KEGG   Homo sapiens (human): 55669
Entry
55669             CDS       T01001                                 
Symbol
MFN1, hfzo1, hfzo2
Name
(RefSeq) mitofusin 1
  KO
K21356  mitofusin 1 [EC:3.6.5.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04137  Mitophagy - animal
hsa04621  NOD-like receptor signaling pathway
hsa05012  Parkinson disease
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06463  Parkinson disease
nt06466  Pathways of neurodegeneration
nt06536  Mitophagy
  Element
N01052  PINK1-Parkin-mediated MFN2 degradation
N01053  Mutation-inactivated PINK1 to PINK1-Parkin-mediated MFN2 degradation
N01054  Mutation-inactivated PRKN to PINK1-Parkin-mediated MFN2 degradation
N01756  PINK-Parkin-independent ubiquitin-mediated mitophagy
N01759  INK1-Parkin-mediated MFN2 degradation, VCP-OPA1
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04137 Mitophagy - animal
    55669 (MFN1)
 09150 Organismal Systems
  09151 Immune system
   04621 NOD-like receptor signaling pathway
    55669 (MFN1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05012 Parkinson disease
    55669 (MFN1)
   05022 Pathways of neurodegeneration - multiple diseases
    55669 (MFN1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    55669 (MFN1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial dynamics
   Fission and Fusion factors
    55669 (MFN1)
SSDB
Motif
Pfam: Fzo_mitofusin Dynamin_N MMR_HSR1 Synaptobrevin
Other DBs
NCBI-GeneID: 55669
NCBI-ProteinID: NP_284941
OMIM: 608506
HGNC: 18262
Ensembl: ENSG00000171109
UniProt: Q8IWA4
Structure
LinkDB
Position
3:179347709..179394936
AA seq 741 aa
MAEPVSPLKHFVLAKKAITAIFDQLLEFVTEGSHFVEATYKNPELDRIATEDDLVEMQGY
KDKLSIIGEVLSRRHMKVAFFGRTSSGKSSVINAMLWDKVLPSGIGHITNCFLSVEGTDG
DKAYLMTEGSDEKKSVKTVNQLAHALHMDKDLKAGCLVRVFWPKAKCALLRDDLVLVDSP
GTDVTTELDSWIDKFCLDADVFVLVANSESTLMNTEKHFFHKVNERLSKPNIFILNNRWD
ASASEPEYMEDVRRQHMERCLHFLVEELKVVNALEAQNRIFFVSAKEVLSARKQKAQGMP
ESGVALAEGFHARLQEFQNFEQIFEECISQSAVKTKFEQHTIRAKQILATVKNIMDSVNL
AAEDKRHYSVEEREDQIDRLDFIRNQMNLLTLDVKKKIKEVTEEVANKVSCAMTDEICRL
SVLVDEFCSEFHPNPDVLKIYKSELNKHIEDGMGRNLADRCTDEVNALVLQTQQEIIENL
KPLLPAGIQDKLHTLIPCKKFDLSYNLNYHKLCSDFQEDIVFRFSLGWSSLVHRFLGPRN
AQRVLLGLSEPIFQLPRSLASTPTAPTTPATPDNASQEELMITLVTGLASVTSRTSMGII
IVGGVIWKTIGWKLLSVSLTMYGALYLYERLSWTTHAKERAFKQQFVNYATEKLRMIVSS
TSANCSHQVKQQIATTFARLCQQVDITQKQLEEEIARLPKEIDQLEKIQNNSKLLRNKAV
QLENELENFTKQFLPSSNEES
NT seq 2226 nt   +upstreamnt  +downstreamnt
atggcagaacctgtttctccactgaagcactttgtgctggctaagaaggcgattactgca
atctttgaccagttactggagtttgttactgaaggatcacattttgttgaagcaacatat
aagaatccggaacttgatcgaatagccactgaagatgatctggtagaaatgcaaggatat
aaagacaagctttccatcattggtgaggtgctatctcggagacacatgaaggtggcattt
tttggcaggacaagcagtgggaagagctctgttatcaatgcaatgttgtgggataaagtt
ctccctagtgggattggccatataaccaattgcttcctaagtgttgaaggaactgatgga
gataaagcctatcttatgacagaaggatcagatgaaaaaaagagtgtgaagacagttaat
caactggcccatgcccttcacatggacaaagatttgaaagctggctgtcttgtacgtgtg
ttttggccaaaagcaaaatgtgccctcttgagagatgacctggtgttagtagacagtcca
ggcacagatgtcactacagagctggatagctggattgataagttttgcctagatgctgat
gtctttgttttggtcgcaaactctgaatcaacactaatgaatacggaaaaacactttttt
cacaaggtgaatgagcggctttccaagcctaatattttcattctcaataatcgttgggat
gcctctgcatcagagccagaatatatggaagacgtacgcagacagcacatggaaagatgc
ctgcatttcttggtggaggagctcaaagttgtaaatgctttagaagcacagaatcgtatc
ttctttgtttcagcaaaggaagttcttagtgctagaaagcaaaaagcacaggggatgcca
gaaagtggtgtggcacttgctgaaggatttcatgcaagattacaggaatttcagaatttt
gaacaaatctttgaggagtgtatctcgcagtcagcagtgaaaacaaagttcgaacagcac
actatcagagctaaacagatactagctactgtgaaaaacataatggattcagtaaacctg
gcagctgaagataaaaggcattattcagtggaagagagggaagaccaaattgatagactg
gactttattcgaaaccagatgaaccttttaacactggatgttaagaaaaaaatcaaggag
gttaccgaggaggtggcaaacaaagtttcatgtgcaatgacagatgaaatttgtcgactg
tctgttttggttgatgaattttgttcagagtttcatcctaatccagatgtattaaaaata
tataaaagtgaattaaataagcacatagaggatggtatgggaagaaatttggctgatcga
tgcaccgatgaagtaaacgccttagtgcttcagacccagcaagaaattattgaaaatttg
aagccattacttccagctggtatacaggataaactacatacactgatcccttgcaagaaa
tttgatctcagttataatctaaattaccacaagttatgttcagattttcaagaggatatt
gtatttcgtttttccctgggctggtcttcccttgtacatcgatttttgggccctagaaat
gctcaaagggtgctcctaggattatcagagcctatctttcagctccctagatctttagct
tctactcccactgctcctaccactccagcaacgccagataatgcatcacaggaagaactc
atgattacattagtaacaggattggcgtccgttacatctagaacttctatgggcatcatt
attgttggaggagtgatttggaaaactataggctggaaactcctatctgtttcattaact
atgtatggagctttgtatctttatgaaagactgagctggaccacccatgccaaggagcga
gcctttaaacagcagtttgtaaactatgcaactgaaaaactgaggatgattgttagctcc
acgagtgcaaactgcagtcaccaagtaaaacaacaaatagctaccacttttgctcgcctg
tgccaacaagttgatattactcaaaaacagctggaagaagaaattgctagattacccaaa
gaaatagatcagttggagaaaatacaaaacaattcaaagctcttaagaaataaagctgtt
caacttgaaaatgagctggagaattttactaagcagtttctaccttcaagcaatgaagaa
tcctaa

KEGG   Homo sapiens (human): 9927
Entry
9927              CDS       T01001                                 
Symbol
MFN2, CMT2A, CMT2A2, CMT2A2A, CMT2A2B, CPRP1, HMSN6A, HSG, MARF, MSL
Name
(RefSeq) mitofusin 2
  KO
K06030  mitofusin 2 [EC:3.6.5.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04137  Mitophagy - animal
hsa04621  NOD-like receptor signaling pathway
hsa05012  Parkinson disease
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06463  Parkinson disease
nt06466  Pathways of neurodegeneration
nt06536  Mitophagy
  Element
N01052  PINK1-Parkin-mediated MFN2 degradation
N01053  Mutation-inactivated PINK1 to PINK1-Parkin-mediated MFN2 degradation
N01054  Mutation-inactivated PRKN to PINK1-Parkin-mediated MFN2 degradation
N01756  PINK-Parkin-independent ubiquitin-mediated mitophagy
N01759  INK1-Parkin-mediated MFN2 degradation, VCP-OPA1
Disease
H00264  Charcot-Marie-Tooth disease
H02941  Multiple symmetric lipomatosis with or without axonal peripheral neuropathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04137 Mitophagy - animal
    9927 (MFN2)
 09150 Organismal Systems
  09151 Immune system
   04621 NOD-like receptor signaling pathway
    9927 (MFN2)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05012 Parkinson disease
    9927 (MFN2)
   05022 Pathways of neurodegeneration - multiple diseases
    9927 (MFN2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    9927 (MFN2)
   03029 Mitochondrial biogenesis [BR:hsa03029]
    9927 (MFN2)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Mitophagy
   PINK1-Parkin associated proteins
    9927 (MFN2)
  Other autophagy associated proteins
   ER-mitochondria tethering complex
    9927 (MFN2)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial dynamics
   Fission and Fusion factors
    9927 (MFN2)
SSDB
Motif
Pfam: Fzo_mitofusin Dynamin_N MMR_HSR1 GTP_EFTU Synaptobrevin
Other DBs
NCBI-GeneID: 9927
NCBI-ProteinID: NP_001121132
OMIM: 608507
HGNC: 16877
Ensembl: ENSG00000116688
UniProt: O95140
Structure
LinkDB
Position
1:11980444..12013508
AA seq 757 aa
MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDT
YRNAELDPVTTEEQVLDVKGYLSKVRGISEVLARRHMKVAFFGRTSNGKSTVINAMLWDK
VLPSGIGHTTNCFLRVEGTDGHEAFLLTEGSEEKRSAKTVNQLAHALHQDKQLHAGSLVS
VMWPNSKCPLLKDDLVLMDSPGIDVTTELDSWIDKFCLDADVFVLVANSESTLMQTEKHF
FHKVSERLSRPNIFILNNRWDASASEPEYMEEVRRQHMERCTSFLVDELGVVDRSQAGDR
IFFVSAKEVLNARIQKAQGMPEGGGALAEGFQVRMFEFQNFERRFEECISQSAVKTKFEQ
HTVRAKQIAEAVRLIMDSLHMAAREQQVYCEEMREERQDRLKFIDKQLELLAQDYKLRIK
QITEEVERQVSTAMAEEIRRLSVLVDDYQMDFHPSPVVLKVYKNELHRHIEEGLGRNMSD
RCSTAITNSLQTMQQDMIDGLKPLLPVSVRSQIDMLVPRQCFSLNYDLNCDKLCADFQED
IEFHFSLGWTMLVNRFLGPKNSRRALMGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFM
VSMVTGLASLTSRTSMGILVVGGVVWKAVGWRLIALSFGLYGLLYVYERLTWTTKAKERA
FKRQFVEHASEKLQLVISYTGSNCSHQVQQELSGTFAHLCQQVDVTRENLEQEIAAMNKK
IEVLDSLQSKAKLLRNKAGWLDSELNMFTHQYLQPSR
NT seq 2274 nt   +upstreamnt  +downstreamnt
atgtccctgctcttctctcgatgcaactctatcgtcacagtcaagaaaaataagagacac
atggctgaggtgaatgcatccccacttaagcactttgtcactgccaagaagaagatcaat
ggcatttttgagcagctgggggcctacatccaggagagcgccaccttccttgaagacacg
tacaggaatgcagaactggaccccgttaccacagaagaacaggttctggacgtcaaaggt
tacctatccaaagtgagaggcatcagtgaggtgctggctcggaggcacatgaaagtggct
ttttttggccggacgagcaatgggaagagcaccgtgatcaatgccatgctctgggacaaa
gttctgccctctgggattggccacaccaccaattgcttcctgcgggtagagggcacagat
ggccatgaggcctttctccttaccgagggctcagaggaaaagaggagtgccaagactgtg
aaccagctggcccatgccctccaccaggacaagcagctccatgccggcagcctagtgagt
gtgatgtggcccaactctaagtgcccacttctgaaggatgacctcgttttgatggacagc
cctggtattgatgtcaccacagagctggacagctggattgacaagttttgtctggatgct
gatgtgtttgtgctggtggccaactcagagtccaccctgatgcagacggaaaagcacttc
ttccacaaggtgagtgagcgtctctcccggccaaacatcttcatcctgaacaaccgctgg
gatgcatctgcctcagagcccgagtacatggaggaggtgcggcggcagcacatggagcgt
tgtaccagcttcctggtggatgagctgggcgtggtggatcgatcccaggccggggaccgc
atcttctttgtgtctgctaaggaggtgctcaacgccaggattcagaaagcccagggcatg
cctgaaggagggggcgctctcgcagaaggctttcaagtgaggatgtttgagtttcagaat
tttgagaggagatttgaggagtgcatctcccagtctgcagtgaagaccaagtttgagcag
cacacggtccgggccaagcagattgcagaggcggttcgactcatcatggactccctgcac
atggcggctcgggagcagcaggtttactgcgaggaaatgcgtgaagagcggcaagaccga
ctgaaatttattgacaaacagctggagctcttggctcaagactataagctgcgaattaag
cagattacggaggaagtggagaggcaggtgtcgactgcaatggccgaggagatcaggcgc
ctctctgtactggtggacgattaccagatggacttccacccttctccagtagtcctcaag
gtttataagaatgagctgcaccgccacatagaggaaggactgggtcgaaacatgtctgac
cgctgctccacggccatcaccaactccctgcagaccatgcagcaggacatgatagatggc
ttgaaacccctccttcctgtgtctgtgcggagtcagatagacatgctggtcccacgccag
tgcttctccctcaactatgacctaaactgtgacaagctgtgtgctgacttccaggaagac
attgagttccatttctctctcggatggaccatgctggtgaataggttcctgggccccaag
aacagccgtcgggccttgatgggctacaatgaccaggtccagcgtcccatccctctgacg
ccagccaaccccagcatgcccccactgccacagggctcgctcacccaggaggagttcatg
gtttccatggttaccggcctggcctccttgacatccaggacctccatgggcattcttgtt
gttggaggagtggtgtggaaggcagtgggctggcggctcattgccctctcctttgggctc
tatggcctcctctacgtctatgagcgtctgacctggaccaccaaggccaaggagagggcc
ttcaagcgccagtttgtggagcatgccagcgagaagctgcagcttgtcatcagctacact
ggctccaactgcagccaccaagtccagcaggaactgtctgggacctttgctcatctgtgt
cagcaagttgacgtcacccgggagaacctggagcaggaaattgccgccatgaacaagaaa
attgaggttcttgactcacttcagagcaaagcaaagctgctcaggaataaagccggttgg
ttggacagtgagctcaacatgttcacacaccagtacctgcagcccagcagatag

KEGG   Homo sapiens (human): 55288
Entry
55288             CDS       T01001                                 
Symbol
RHOT1, ARHT1, MIRO-1, MIRO1
Name
(RefSeq) ras homolog family member T1
  KO
K07870  mitochondrial Rho GTPase 1 [EC:3.6.5.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04137  Mitophagy - animal
Network
nt06536  Mitophagy
  Element
N01756  PINK-Parkin-independent ubiquitin-mediated mitophagy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04137 Mitophagy - animal
    55288 (RHOT1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    55288 (RHOT1)
  09183 Protein families: signaling and cellular processes
   04031 GTP-binding proteins [BR:hsa04031]
    55288 (RHOT1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial protein import machinery
  Endoplasmic reticulum membrane and cytosol
   Other ER-memrane and cytosol factors
    55288 (RHOT1)
 Mitochondrial quality control factors
  Mitochondrial dynamics
   Morphogenesis factors
    55288 (RHOT1)
GTP-binding proteins [BR:hsa04031]
 Small (monomeric) G-proteins
  Rho Family
   Miro
    55288 (RHOT1)
SSDB
Motif
Pfam: EF_assoc_2 EF_assoc_1 Ras Roc EF-hand_7 MMR_HSR1 Arf EF-hand_6 EF-hand_1 SRPRB RsgA_GTPase Dynamin_N AAA_22 Rad4 EF-hand_5 EF-hand_8
Other DBs
NCBI-GeneID: 55288
NCBI-ProteinID: NP_060777
OMIM: 613888
HGNC: 21168
Ensembl: ENSG00000126858
UniProt: Q8IXI2
Structure
LinkDB
Position
17:32142502..32225727
AA seq 618 aa
MKKDVRILLVGEPRVGKTSLIMSLVSEEFPEEVPPRAEEITIPADVTPERVPTHIVDYSE
AEQSDEQLHQEISQANVICIVYAVNNKHSIDKVTSRWIPLINERTDKDSRLPLILVGNKS
DLVEYSSMETILPIMNQYTEIETCVECSAKNLKNISELFYYAQKAVLHPTGPLYCPEEKE
MKPACIKALTRIFKISDQDNDGTLNDAELNFFQRICFNTPLAPQALEDVKNVVRKHISDG
VADSGLTLKGFLFLHTLFIQRGRHETTWTVLRRFGYDDDLDLTPEYLFPLLKIPPDCTTE
LNHHAYLFLQSTFDKHDLDRDCALSPDELKDLFKVFPYIPWGPDVNNTVCTNERGWITYQ
GFLSQWTLTTYLDVQRCLEYLGYLGYSILTEQESQASAVTVTRDKKIDLQKKQTQRNVFR
CNVIGVKNCGKSGVLQALLGRNLMRQKKIREDHKSYYAINTVYVYGQEKYLLLHDISESE
FLTEAEIICDVVCLVYDVSNPKSFEYCARIFKQHFMDSRIPCLIVAAKSDLHEVKQEYSI
SPTDFCRKHKMPPPQAFTCNTADAPSKDIFVKLTTMAMYPHVTQADLKSSTFWLRASFGA
TVFAVLGFAMYKALLKQR
NT seq 1857 nt   +upstreamnt  +downstreamnt
atgaagaaagacgtgcggatcctgctggtgggagaacctagagttgggaagacatcactg
attatgtctctggtcagtgaagaatttccagaagaggttcctccccgggcagaagaaatc
accattccagctgatgtcaccccagagagagttccaacacacattgtagattactcagaa
gcagaacagagtgatgaacaacttcatcaagaaatatctcaggctaatgtcatctgtata
gtgtatgccgttaacaacaagcattctattgataaggtaacaagtcgatggattcctctc
ataaatgaaagaacagacaaagacagcaggctgcctttaatattggttgggaacaaatct
gatctggtggaatatagtagtatggagaccatccttcctattatgaaccagtatacagaa
atagaaacctgtgtggagtgttcagcgaaaaacctgaagaacatatcagagctcttttat
tacgcacagaaagctgttcttcatcctacagggcccctgtactgcccagaggagaaggag
atgaaaccagcttgtataaaagcccttactcgtatatttaaaatatctgatcaagataat
gatggtactctcaatgatgctgaactcaacttctttcagaggatttgtttcaacactcca
ttagctcctcaagctctggaggatgtcaagaatgtagtcagaaaacatataagtgatggt
gtggctgacagtgggttgaccctgaaaggttttctctttttacacacactttttatccag
agagggagacacgaaactacttggactgtgcttcgacgatttggttatgatgatgacctg
gatttgacacctgaatatttgttccccctgctgaaaatacctcctgattgcactactgaa
ttaaatcatcatgcatatttatttctccaaagcacctttgacaagcatgatttggataga
gactgtgctttgtcacctgatgagcttaaagatttatttaaagttttcccttacatacct
tgggggccagatgtgaataacacagtttgtaccaatgaaagaggctggataacctaccag
ggattcctttcccagtggacgctcacgacttatttagatgtacagcggtgcctggaatat
ttgggctatctaggctattcaatattgactgagcaagagtctcaagcttcagctgttaca
gtgacaagagataaaaagatagacctgcagaaaaaacaaactcaaagaaatgtgttcaga
tgtaatgtaattggagtgaaaaactgtgggaaaagtggagttcttcaggctcttcttgga
agaaacttaatgaggcagaagaaaattcgtgaagatcataaatcctactatgcgattaac
actgtttatgtatatggacaagagaaatacttgttgttgcatgatatctcagaatcggaa
tttctaactgaagctgaaatcatttgtgatgttgtatgcctggtatatgatgtcagcaat
cccaaatcctttgaatactgtgccaggatttttaagcaacactttatggacagcagaata
ccttgcttaatcgtagctgcaaagtcagacctgcatgaagttaaacaagaatacagtatt
tcacctactgatttctgcaggaaacacaaaatgcctccaccacaagccttcacttgcaat
actgctgatgcccccagtaaggatatctttgttaaattgacaacaatggccatgtatccg
cacgtgacacaagctgacctcaagagctccacgttttggcttcgagcaagttttggtgct
actgtttttgcagttttgggctttgctatgtacaaagcattattgaaacagcgatga

KEGG   Homo sapiens (human): 89941
Entry
89941             CDS       T01001                                 
Symbol
RHOT2, ARHT2, C16orf39, MIRO-2, MIRO2, RASL
Name
(RefSeq) ras homolog family member T2
  KO
K07871  mitochondrial Rho GTPase 2 [EC:3.6.5.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04137  Mitophagy - animal
Network
nt06536  Mitophagy
  Element
N01756  PINK-Parkin-independent ubiquitin-mediated mitophagy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04137 Mitophagy - animal
    89941 (RHOT2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04031 GTP-binding proteins [BR:hsa04031]
    89941 (RHOT2)
GTP-binding proteins [BR:hsa04031]
 Small (monomeric) G-proteins
  Rho Family
   Miro
    89941 (RHOT2)
SSDB
Motif
Pfam: EF_assoc_2 EF_assoc_1 Ras Roc EF-hand_7 Arf EF-hand_6 EF-hand_1 MMR_HSR1 AAA_16 SRPRB EF-hand_5
Other DBs
NCBI-GeneID: 89941
NCBI-ProteinID: NP_620124
OMIM: 613889
HGNC: 21169
Ensembl: ENSG00000140983
UniProt: Q8IXI1
Structure
LinkDB
Position
16:668083..674174
AA seq 618 aa
MRRDVRILLLGEAQVGKTSLILSLVGEEFPEEVPPRAEEITIPADVTPEKVPTHIVDYSE
AEQTDEELREEIHKANVVCVVYDVSEEATIEKIRTKWIPLVNGGTTQGPRVPIILVGNKS
DLRSGSSMEAVLPIMSQFPEIETCVECSAKNLRNISELFYYAQKAVLHPTAPLYDPEAKQ
LRPACAQALTRIFRLSDQDLDQALSDEELNAFQKSCFGHPLAPQALEDVKTVVCRNVAGG
VREDRLTLDGFLFLNTLFIQRGRHETTWTILRRFGYSDALELTADYLSPLIHVPPGCSTE
LNHLGYQFVQRVFEKHDQDRDGALSPVELQSLFSVFPAAPWGPELPRTVRTEAGRLPLHG
YLCQWTLVTYLDVRSCLGHLGYLGYPTLCEQDQAHAITVTREKRLDQEKGQTQRSVLLCK
VVGARGVGKSAFLQAFLGRGLGHQDTREQPPGYAIDTVQVNGQEKYLILCEVGTDGLLAT
SLDATCDVACLMFDGSDPKSFAHCASVYKHHYMDGQTPCLFVSSKADLPEGVAVSGPSPA
EFCRKHRLPAPVPFSCAGPAEPSTTIFTQLATMAAFPHLVHAELHPSSFWLRGLLGVVGA
AVAAVLSFSLYRVLVKSQ
NT seq 1857 nt   +upstreamnt  +downstreamnt
atgaggcgggacgtgcgcatcctgttactgggcgaggcccaggtggggaagacgtcgctg
atcctgtccctggtgggcgaggagttccccgaggaggtccctccccgcgcggaggagatc
accatccccgcggacgtcaccccggagaaggtgcccacccacatcgtggactactcagaa
gccgagcagacggacgaggagctgcgggaggagatccacaaggcaaacgtggtgtgtgtg
gtgtatgacgtctctgaggaggccaccattgagaagattcgaactaagtggatcccactg
gtgaatggggggaccacgcaggggcccagggtgcccatcatcctagtgggcaacaagtca
gacctgcggtcggggagctccatggaggccgtgctccccatcatgagccagtttcccgag
attgagacctgcgtggagtgttcggccaagaacctgaggaacatctcagagctgttctac
tacgcccagaaggccgtcctgcatcccacagcccccctctatgaccctgaggccaagcag
ttgaggcccgcgtgcgcccaggcgctgacgcgcatcttcaggctctcagatcaggacctg
gaccaggcgctcagtgacgaagagctcaacgctttccagaaatcctgctttgggcacccc
ctggccccgcaggccctggaggacgtgaagacggtggtgtgcaggaacgtggcgggcggc
gtgcgggaggaccggctgaccctggatggtttcctcttcctgaacacgctcttcatccag
cgcggccggcacgagaccacctggaccatcctgcggcgcttcggctacagcgatgccctg
gagctgactgcggactatctctcccctctgatccacgtgccccccggctgcagcacggag
ctcaaccaccttggctaccagtttgtgcagagagtgtttgagaagcacgaccaggaccgc
gacggcgccctctcgcccgtggagctgcaaagccttttcagtgtgttcccagcagcgccc
tggggccccgagctcccacgcacagtccgcacagaggccggccggttgcccctgcacgga
tacctctgccagtggaccctggtgacctacctggacgtccggagctgccttggacaccta
ggctacctgggctaccccaccctctgtgagcaggaccaggcccatgccatcacagtcact
cgtgagaagaggctggaccaggagaagggacagacgcagcggagcgtcctcctgtgcaag
gtggtaggggcccgtggagtgggcaagtctgccttcctgcaggcctttctcggccgcggc
ctggggcaccaggacacgagggagcagcctcccggctacgccatcgacacggtgcaggtc
aatggacaggagaagtacttgatcctctgtgaggtgggcacagatggtctgctggccaca
tcgctggacgccacctgtgacgttgcctgcttgatgtttgatggcagtgacccaaagtcc
tttgcacattgtgccagcgtctacaagcaccattacatggacgggcagaccccctgcctc
tttgtctcctccaaggccgacctgcccgaaggtgtcgcggtgtctggcccatcaccggcc
gagttttgccgcaagcaccggctacccgctcccgtgccgttctcctgtgctggcccagcc
gagcccagcaccaccatcttcacccagctcgccaccatggccgccttcccacatttggtc
cacgcagagctgcatccctcttccttctggctccgggggctgctgggggttgtcggggcc
gccgtggccgcagtcctcagcttctcactctacagggtcctggtgaagagccagtga

KEGG   Homo sapiens (human): 55847
Entry
55847             CDS       T01001                                 
Symbol
CISD1, C10orf70, MDS029, ZCD1, mitoNEET
Name
(RefSeq) CDGSH iron sulfur domain 1
  KO
K23885  CDGSH iron-sulfur domain-containing protein 1
Organism
hsa  Homo sapiens (human)
Network
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06536  Mitophagy
  Element
N01137  PINK-Parkin-mediated autophagosome formation
N01138  Mutation-inactivated OPTN to PINK-Parkin-mediated autophagosome formation
N01139  Mutation-inactivated p62 to PINK-Parkin-mediated autophagosome formation
N01756  PINK-Parkin-independent ubiquitin-mediated mitophagy
N01757  PINK-Parkin-independent ubiquitin-mediated mitophagy, ubiquitin E3 ligase
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09193 Unclassified: signaling and cellular processes
   99977 Transport
    55847 (CISD1)
SSDB
Motif
Pfam: zf-CDGSH MitoNEET_N
Other DBs
NCBI-GeneID: 55847
NCBI-ProteinID: NP_060934
OMIM: 611932
HGNC: 30880
Ensembl: ENSG00000122873
UniProt: Q9NZ45
Structure
LinkDB
Position
10:58269162..58289586
AA seq 108 aa
MSLTSSSSVRVEWIAAVTIAAGTAAIGYLAYKRFYVKDHRNKAMINLHIQKDNPKIVHAF
DMEDLGDKAVYCRCWRSKKFPFCDGAHTKHNEETGDNVGPLIIKKKET
NT seq 327 nt   +upstreamnt  +downstreamnt
atgagtctgacttccagttccagcgtacgagttgaatggatcgcagcagttaccattgct
gctgggacagctgcaattggttatctagcttacaaaagattttatgttaaagatcatcga
aataaagctatgataaaccttcacatccagaaagacaaccccaagatagtacatgctttt
gacatggaggatttgggagataaagctgtgtactgccgttgttggaggtccaaaaagttc
ccattctgtgatggggctcacacaaaacataacgaagagactggagacaatgtgggccct
ctgatcatcaagaaaaaagaaacttaa

KEGG   Homo sapiens (human): 493856
Entry
493856            CDS       T01001                                 
Symbol
CISD2, ERIS, Miner1, NAF-1, WFS2, ZCD2
Name
(RefSeq) CDGSH iron sulfur domain 2
  KO
K23882  CDGSH iron-sulfur domain-containing protein 2
Organism
hsa  Homo sapiens (human)
Network
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06536  Mitophagy
  Element
N01137  PINK-Parkin-mediated autophagosome formation
N01138  Mutation-inactivated OPTN to PINK-Parkin-mediated autophagosome formation
N01139  Mutation-inactivated p62 to PINK-Parkin-mediated autophagosome formation
N01756  PINK-Parkin-independent ubiquitin-mediated mitophagy
N01757  PINK-Parkin-independent ubiquitin-mediated mitophagy, ubiquitin E3 ligase
Disease
H00854  Wolfram syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    493856 (CISD2)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Other autophagy associated proteins
   Others
    493856 (CISD2)
SSDB
Motif
Pfam: MitoNEET_N zf-CDGSH PGA2
Other DBs
NCBI-GeneID: 493856
NCBI-ProteinID: NP_001008389
OMIM: 611507
HGNC: 24212
Ensembl: ENSG00000145354
UniProt: Q8N5K1
Structure
LinkDB
Position
4:102868992..102892807
AA seq 135 aa
MVLESVARIVKVQLPAYLKRLPVPESITGFARLTVSEWLRLLPFLGVLALLGYLAVRPFL
PKKKQQKDSLINLKIQKENPKVVNEINIEDLCLTKAAYCRCWRSKTFPACDGSHNKHNEL
TGDNVGPLILKKKEV
NT seq 408 nt   +upstreamnt  +downstreamnt
atggtgctggagagcgtggcccgtatcgtgaaggtgcagctccctgcatatctgaagcgg
ctcccagtccctgaaagcattaccgggttcgctaggctcacagtttcagaatggcttcgg
ttattgcctttccttggtgtactcgcacttcttggctaccttgcagttcgtccattcctc
ccgaagaagaaacaacagaaggatagcttgattaatcttaaaatacaaaaggaaaatccg
aaagtagtgaatgaaataaacattgaagatttgtgtcttactaaagcagcttattgtagg
tgttggcgttctaaaacgtttcctgcctgcgatggttcacataataaacacaatgaattg
acaggagataatgtgggtccactaatactgaagaagaaagaagtataa

KEGG   Homo sapiens (human): 23197
Entry
23197             CDS       T01001                                 
Symbol
FAF2, ETEA, UBXD8, UBXN3B
Name
(RefSeq) Fas associated factor family member 2
  KO
K18726  FAS-associated factor 2
Organism
hsa  Homo sapiens (human)
Network
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06536  Mitophagy
  Element
N01137  PINK-Parkin-mediated autophagosome formation
N01138  Mutation-inactivated OPTN to PINK-Parkin-mediated autophagosome formation
N01139  Mutation-inactivated p62 to PINK-Parkin-mediated autophagosome formation
N01756  PINK-Parkin-independent ubiquitin-mediated mitophagy
N01757  PINK-Parkin-independent ubiquitin-mediated mitophagy, ubiquitin E3 ligase
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    23197 (FAF2)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Ran-mediated transport factors
     23197 (FAF2)
SSDB
Motif
Pfam: UBA_8 FAF1 UBA_4 UBX Thioredoxin_7 LIM_bind PFF1_TM PEHE
Other DBs
NCBI-GeneID: 23197
NCBI-ProteinID: NP_055428
OMIM: 616935
HGNC: 24666
Ensembl: ENSG00000113194
UniProt: Q96CS3
Structure
LinkDB
Position
5:176448385..176510074
AA seq 445 aa
MAAPEERDLTQEQTEKLLQFQDLTGIESMDQCRHTLEQHNWNIEAAVQDRLNEQEGVPSV
FNPPPSRPLQVNTADHRIYSYVVSRPQPRGLLGWGYYLIMLPFRFTYYTILDIFRFALRF
IRPDPRSRVTDPVGDIVSFMHSFEEKYGRAHPVFYQGTYSQALNDAKRELRFLLVYLHGD
DHQDSDEFCRNTLCAPEVISLINTRMLFWACSTNKPEGYRVSQALRENTYPFLAMIMLKD
RRMTVVGRLEGLIQPDDLINQLTFIMDANQTYLVSERLEREERNQTQVLRQQQDEAYLAS
LRADQEKERKKREERERKRRKEEEVQQQKLAEERRRQNLQEEKERKLECLPPEPSPDDPE
SVKIIFKLPNDSRVERRFHFSQSLTVIHDFLFSLKESPEKFQIEANFPRRVLPCIPSEEW
PNPPTLQEAGLSHTEVLFVQDLTDE
NT seq 1338 nt   +upstreamnt  +downstreamnt
atggcggcgcctgaggagcgggatctaacccaggagcagacagagaagctgctgcagttt
caggatctcactggcatcgaatctatggatcagtgtcgccataccttggaacagcataac
tggaacatagaggctgctgtacaggacagattgaatgagcaagagggcgtacctagtgtt
ttcaacccacctccatcacgacccctgcaggttaatacagctgaccacaggatctacagc
tatgttgtctcaagacctcaaccaagggggctgcttggatggggttattacttgataatg
cttccattccggtttacctattacacgatacttgatatatttaggtttgctcttcgtttt
atacggcctgaccctcgcagccgggtcactgaccccgttggggacattgtttcatttatg
cactcttttgaagagaaatatgggagggcacaccctgtcttctaccagggaacgtacagc
caggcacttaacgatgccaaaagggagcttcgctttcttttggtttatcttcatggagat
gatcaccaggactctgatgagttttgtcgcaacacactctgtgcacctgaagttatttca
ctaataaacactaggatgctcttctgggcatgctctacaaacaaacctgagggatacagg
gtctcacaggctttacgagagaacacctatccattcctggccatgattatgctgaaggat
cgaaggatgactgtggtgggacggctagaaggcctcattcaacctgatgacctcattaac
caactgacatttatcatggatgctaaccagacttacctggtgtcagaacgcctagaaagg
gaagaaagaaaccagacccaagtgctgagacaacagcaggatgaggcctacctggcctct
ctcagagctgaccaggagaaagaaagaaagaaacgggaggagcgggagcgtaagcggcgg
aaggaggaggaggtgcaacagcaaaagttggcagaggagagacggcggcagaatttacag
gaggaaaaggaaaggaagttggaatgcctgccccctgaaccttcccctgatgaccctgaa
agtgtcaagatcatcttcaaattacctaatgattctcgagtagagagacgattccacttt
tcacagtctctaacagtaatccacgacttcttattctccttgaaggaaagcccagaaaag
tttcagattgaagccaattttcccaggcgagtgctgccctgcatcccttcagaggagtgg
cccaatccccctacgctacaggaggccggactcagccacacagaagttctttttgttcag
gacctaactgacgaatga

KEGG   Homo sapiens (human): 23770
Entry
23770             CDS       T01001                                 
Symbol
FKBP8, FKBP38, FKBPr38
Name
(RefSeq) FKBP prolyl isomerase 8
  KO
K09574  FK506-binding protein 8 [EC:5.2.1.8]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04137  Mitophagy - animal
Network
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06536  Mitophagy
  Element
N01137  PINK-Parkin-mediated autophagosome formation
N01138  Mutation-inactivated OPTN to PINK-Parkin-mediated autophagosome formation
N01139  Mutation-inactivated p62 to PINK-Parkin-mediated autophagosome formation
N01756  PINK-Parkin-independent ubiquitin-mediated mitophagy
N01757  PINK-Parkin-independent ubiquitin-mediated mitophagy, ubiquitin E3 ligase
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04137 Mitophagy - animal
    23770 (FKBP8)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    23770 (FKBP8)
  09182 Protein families: genetic information processing
   03110 Chaperones and folding catalysts [BR:hsa03110]
    23770 (FKBP8)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.2  cis-trans-Isomerases
   5.2.1  cis-trans Isomerases (only sub-subclass identified to date)
    5.2.1.8  peptidylprolyl isomerase
     23770 (FKBP8)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein serine/threonine phosphatases
  Phosphoprotein phosphatases (PPPs)
   Calcineurin (PPP3/ PP2B)
    Other calcineurin-interacting proteins
     23770 (FKBP8)
Chaperones and folding catalysts [BR:hsa03110]
 Protein folding catalysts
  Peptidyl prolyl isomerase
   FKBP
    23770 (FKBP8)
SSDB
Motif
Pfam: FKBP_C TPR_1 TPR_2 TPR_16 TPR_14 Fis1_TPR_C TPR_19 TPR_11 TPR_8 TPR_9 TPR_17 TPR_12 ANAPC3 TPR_7 TPR_CcmH_CycH TPR_6 TPR_Slam ARM_TT21_5th NatA_aux_su ARM_TT21 UBL_UBAC1
Other DBs
NCBI-GeneID: 23770
NCBI-ProteinID: NP_001295302
OMIM: 604840
HGNC: 3724
Ensembl: ENSG00000105701
UniProt: Q14318 B2R8G6
Structure
LinkDB
Position
19:complement(18531763..18543573)
AA seq 412 aa
MASCAEPSEPSAPLPAGVPPLEDFEVLDGVEDAEGEEEEEEEEEEEDDLSELPPLEDMGQ
PPAEEAEQPGALAREFLAAMEPEPAPAPAPEEWLDILGNGLLRKKTLVPGPPGSSRPVKG
QVVTVHLQTSLENGTRVQEEPELVFTLGDCDVIQALDLSVPLMDVGETAMVTADSKYCYG
PQGRSPYIPPHAALCLEVTLKTAVDGPDLEMLTGQERVALANRKRECGNAHYQRADFVLA
ANSYDLAIKAITSSAKVDMTFEEEAQLLQLKVKCLNNLAASQLKLDHYRAALRSCSLVLE
HQPDNIKALFRKGKVLAQQGEYSEAIPILRAALKLEPSNKTIHAELSKLVKKHAAQRSTE
TALYRKMLGNPSRLPAKCPGKGAWSIPWKWLFGATAVALGGVALSVVIAARN
NT seq 1239 nt   +upstreamnt  +downstreamnt
atggcatcgtgtgctgaaccctctgagccctctgccccactgcccgccggggtcccaccg
ctcgaggacttcgaggtactggatggggttgaggatgcagagggtgaggaggaagaggag
gaggaagaggaggaagaggatgacctgagtgagctgccaccgctggaggacatgggacaa
cccccggcggaggaggctgagcagcctggggccctggcccgagagttccttgctgccatg
gagcccgagcccgccccagccccggccccagaagagtggctggacattctggggaacggg
ctgttgaggaagaagacgctggtcccagggccgccaggttcgagccgcccggtcaagggc
caggtggtcaccgtacatctgcagacgtcgctggagaatggcacacgggtgcaggaggag
ccggagctggtgttcactctgggtgactgtgacgtcatccaggccctggatctcagtgtc
ccactcatggacgtgggggagacggccatggtcactgctgactccaagtactgctacggc
ccccaaggcaggagcccatacatccccccgcacgcggccctgtgcctggaggtgaccctg
aagacggctgtggacgggcctgacctggagatgctcacggggcaggagcgcgtggccctg
gccaaccggaagcgggagtgcggcaacgcccactaccagcgggcggacttcgtcctggcc
gccaactcctacgacctcgccatcaaggctatcacctccagcgccaaagtggacatgacg
ttcgaggaggaggcacagctcctgcagttgaaggtgaagtgtctgaacaacctggcggcc
tcgcagctgaagctcgaccactaccgcgcagccctgcgctcctgcagccttgtgctggag
caccagccagacaacatcaaggctctcttccgcaagggcaaggtgctggcccagcagggg
gagtacagtgaggccatccccatcctgagggcagccctgaagctggaaccttccaacaag
acgatccacgcagagctctcaaagctggtgaagaagcatgcggcgcagcggagcacggag
accgccttgtaccggaaaatgctgggcaaccccagccggctgcctgctaagtgccctggc
aagggtgcctggtccatcccatggaagtggctgtttggggcgactgctgttgccttgggg
ggtgtggcactctctgtggtcatcgctgccaggaactga

KEGG   Homo sapiens (human): 9868
Entry
9868              CDS       T01001                                 
Symbol
TOMM70, TOMM70A, Tom70
Name
(RefSeq) translocase of outer mitochondrial membrane 70
  KO
K17768  mitochondrial import receptor subunit TOM70
Organism
hsa  Homo sapiens (human)
Pathway
hsa04137  Mitophagy - animal
Network
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06536  Mitophagy
  Element
N01137  PINK-Parkin-mediated autophagosome formation
N01138  Mutation-inactivated OPTN to PINK-Parkin-mediated autophagosome formation
N01139  Mutation-inactivated p62 to PINK-Parkin-mediated autophagosome formation
N01756  PINK-Parkin-independent ubiquitin-mediated mitophagy
N01757  PINK-Parkin-independent ubiquitin-mediated mitophagy, ubiquitin E3 ligase
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04137 Mitophagy - animal
    9868 (TOMM70)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    9868 (TOMM70)
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    9868 (TOMM70)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial protein import machinery
  Outer membrane
   Transporter outer membrane (TOM) complex
    9868 (TOMM70)
Transporters [BR:hsa02000]
 Other transporters
  Primary active transporters [TC:3]
   9868 (TOMM70)
SSDB
Motif
Pfam: TPR_1 TPR_2 TPR_8 TPR_11 TPR_14 TPR_12 TPR_9 TPR_17 TPR_19 TPR_CcmH_CycH DUF5569 ARM_TT21_C TPR_7 TPR_BSK1_C MIT HAT_PRP39_N TPR_21 NRBF2_MIT RPN7 ARM_TT21_2nd DUF7773
Other DBs
NCBI-GeneID: 9868
NCBI-ProteinID: NP_055635
OMIM: 606081
HGNC: 11985
Ensembl: ENSG00000154174
UniProt: O94826
Structure
LinkDB
Position
3:complement(100363431..100401089)
AA seq 608 aa
MAASKPVEAAVVAAAVPSSGSGVGGGGTAGPGTGGLPRWQLALAVGAPLLLGAGAIYLWS
RQQRRREARGRGDASGLKRNSERKTPEGRASPAPGSGHPEGPGAHLDMNSLDRAQAAKNK
GNKYFKAGKYEQAIQCYTEAISLCPTEKNVDLSTFYQNRAAAFEQLQKWKEVAQDCTKAV
ELNPKYVKALFRRAKAHEKLDNKKECLEDVTAVCILEGFQNQQSMLLADKVLKLLGKEKA
KEKYKNREPLMPSPQFIKSYFSSFTDDIISQPMLKGEKSDEDKDKEGEALEVKENSGYLK
AKQYMEEENYDKIISECSKEIDAEGKYMAEALLLRATFYLLIGNANAAKPDLDKVISLKE
ANVKLRANALIKRGSMYMQQQQPLLSTQDFNMAADIDPQNADVYHHRGQLKILLDQVEEA
VADFDECIRLRPESALAQAQKCFALYRQAYTGNNSSQIQAAMKGFEEVIKKFPRCAEGYA
LYAQALTDQQQFGKADEMYDKCIDLEPDNATTYVHKGLLQLQWKQDLDRGLELISKAIEI
DNKCDFAYETMGTIEVQRGNMEKAIDMFNKAINLAKSEMEMAHLYSLCDAAHAQTEVAKK
YGLKPPTL
NT seq 1827 nt   +upstreamnt  +downstreamnt
atggccgcctctaaacctgtggaggcagcggtggtcgcagccgctgtaccgagctccggg
agtggggtgggcggcggcgggactgcgggcccgggcacgggggggctgccgcgatggcag
ctggctctggcggtcggggcacccctgctgctgggcgcgggtgccatatacctgtggagt
cggcagcaacggcgccgggaggccagaggccggggcgacgccagcggcctgaagcgcaac
agcgaacggaagaccccggagggcagggccagtccggccccgggcagcggacaccctgaa
ggtcccggtgctcacttggacatgaactctcttgatagagcccaagcagccaagaataaa
ggcaataaatattttaaagcaggaaaatatgaacaagctattcagtgctatactgaggct
attagcttgtgccctacagagaagaatgttgacctttctacattttatcaaaacagagct
gctgcctttgaacagttgcaaaaatggaaagaagtggcacaagactgtacaaaagctgtt
gaacttaatcccaaatatgtgaaagctctctttagacgtgcaaaagcccatgagaagcta
gacaataagaaggaatgtttagaagatgtcactgctgtgtgtatattagaagggttccaa
aatcaacaaagcatgctgttagccgataaagttcttaaactccttggaaaagagaaagcc
aaagaaaaatataagaatcgtgaacctctgatgccatctccacagtttatcaaatcttac
ttcagttctttcacggatgatatcatttcccagcccatgcttaaaggagagaaatctgat
gaagataaagacaaggaaggggaggctttagaagtgaaagaaaattctggatacttaaag
gccaaacagtatatggaagaagaaaactacgataaaatcataagtgaatgctcaaaagaa
atagatgctgaaggcaaatacatggcagaagcattgctactacgagctaccttctacctg
cttattggcaatgccaatgcagccaaaccagatttagataaagtcatcagtttgaaagaa
gctaatgtgaagcttcgagcaaatgctctcatcaaaagaggcagcatgtacatgcaacag
cagcagcctttgctgtccactcaagattttaacatggctgctgacatcgatcctcagaat
gcagatgtttatcaccaccgaggacagctgaaaatactccttgatcaagttgaagaagca
gtggcagattttgatgaatgtattaggttaagacctgagtctgctctggcacaagcacag
aaatgttttgcattgtaccgccaggcatatacgggaaacaactcttcacaaatccaagca
gctatgaaaggttttgaagaggtcataaagaaatttccaaggtgtgccgaaggctatgca
ctatacgcccaggcattaacagatcaacaacagtttggtaaagctgatgaaatgtatgat
aaatgtattgatttggaaccagataatgctacaacatatgttcataaaggtttacttcaa
cttcagtggaagcaagatctggatagaggtttggaacttatcagcaaggctattgaaatt
gacaataaatgtgattttgcctatgaaaccatgggaactattgaagtacaaagaggaaac
atggagaaagccattgacatgttcaacaaagctattaacctggccaaatcggaaatggag
atggcccatctgtattcactttgcgatgccgcccatgcccagacagaagttgcaaagaaa
tacggattaaaaccaccaacattataa

KEGG   Homo sapiens (human): 3098
Entry
3098              CDS       T01001                                 
Symbol
HK1, CNSHA5, HK, HK1-ta, HK1-tb, HK1-tc, HKD, HKI, HMSNR, HXK1, NEDVIBA, NMSR, RP79, hexokinase
Name
(RefSeq) hexokinase 1
  KO
K00844  hexokinase [EC:2.7.1.1]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00010  Glycolysis / Gluconeogenesis
hsa00051  Fructose and mannose metabolism
hsa00052  Galactose metabolism
hsa00500  Starch and sucrose metabolism
hsa00520  Amino sugar and nucleotide sugar metabolism
hsa00524  Neomycin, kanamycin and gentamicin biosynthesis
hsa01100  Metabolic pathways
hsa01200  Carbon metabolism
hsa01250  Biosynthesis of nucleotide sugars
hsa04066  HIF-1 signaling pathway
hsa04910  Insulin signaling pathway
hsa04930  Type II diabetes mellitus
hsa04973  Carbohydrate digestion and absorption
hsa05131  Shigellosis
hsa05230  Central carbon metabolism in cancer
Module
hsa_M00001  Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate
hsa_M00549  UDP-Glc biosynthesis, Glc => UDP-Glc
hsa_M01015  GDP-Man biosynthesis, Man => GDP-Man
Network
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06524  Apoptosis
nt06536  Mitophagy
  Element
N00950  Shigella FimA to crosstalk between extrinsic and intrinsic apoptotic pathways
N01137  PINK-Parkin-mediated autophagosome formation
N01138  Mutation-inactivated OPTN to PINK-Parkin-mediated autophagosome formation
N01139  Mutation-inactivated p62 to PINK-Parkin-mediated autophagosome formation
N01756  PINK-Parkin-independent ubiquitin-mediated mitophagy
N01757  PINK-Parkin-independent ubiquitin-mediated mitophagy, ubiquitin E3 ligase
Disease
H00264  Charcot-Marie-Tooth disease
H00527  Retinitis pigmentosa
H00664  Anemia due to disorders of glycolytic enzymes
H02470  Neurodevelopmental disorder with structural brain abnormalities
H02999  Congenital nonspherocytic hemolytic anemia
Drug target
Lonidamine: D07257
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00010 Glycolysis / Gluconeogenesis
    3098 (HK1)
   00051 Fructose and mannose metabolism
    3098 (HK1)
   00052 Galactose metabolism
    3098 (HK1)
   00500 Starch and sucrose metabolism
    3098 (HK1)
  09107 Glycan biosynthesis and metabolism
   00520 Amino sugar and nucleotide sugar metabolism
    3098 (HK1)
  09110 Biosynthesis of other secondary metabolites
   00524 Neomycin, kanamycin and gentamicin biosynthesis
    3098 (HK1)
 09130 Environmental Information Processing
  09132 Signal transduction
   04066 HIF-1 signaling pathway
    3098 (HK1)
 09150 Organismal Systems
  09152 Endocrine system
   04910 Insulin signaling pathway
    3098 (HK1)
  09154 Digestive system
   04973 Carbohydrate digestion and absorption
    3098 (HK1)
 09160 Human Diseases
  09161 Cancer: overview
   05230 Central carbon metabolism in cancer
    3098 (HK1)
  09171 Infectious disease: bacterial
   05131 Shigellosis
    3098 (HK1)
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    3098 (HK1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    3098 (HK1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.1  Phosphotransferases with an alcohol group as acceptor
    2.7.1.1  hexokinase
     3098 (HK1)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Mitophagy
   Other mitophagy associated  proteins
    3098 (HK1)
SSDB
Motif
Pfam: Hexokinase_2 Hexokinase_1 Sec23_helical UvrD-helicase
Other DBs
NCBI-GeneID: 3098
NCBI-ProteinID: NP_000179
OMIM: 142600
HGNC: 4922
Ensembl: ENSG00000156515
UniProt: P19367 B3KXY9 A8K7J7 Q59FD4
Structure
LinkDB
Position
10:69270000..69401882
AA seq 917 aa
MIAAQLLAYYFTELKDDQVKKIDKYLYAMRLSDETLIDIMTRFRKEMKNGLSRDFNPTAT
VKMLPTFVRSIPDGSEKGDFIALDLGGSSFRILRVQVNHEKNQNVHMESEVYDTPENIVH
GSGSQLFDHVAECLGDFMEKRKIKDKKLPVGFTFSFPCQQSKIDEAILITWTKRFKASGV
EGADVVKLLNKAIKKRGDYDANIVAVVNDTVGTMMTCGYDDQHCEVGLIIGTGTNACYME
ELRHIDLVEGDEGRMCINTEWGAFGDDGSLEDIRTEFDREIDRGSLNPGKQLFEKMVSGM
YLGELVRLILVKMAKEGLLFEGRITPELLTRGKFNTSDVSAIEKNKEGLHNAKEILTRLG
VEPSDDDCVSVQHVCTIVSFRSANLVAATLGAILNRLRDNKGTPRLRTTVGVDGSLYKTH
PQYSRRFHKTLRRLVPDSDVRFLLSESGSGKGAAMVTAVAYRLAEQHRQIEETLAHFHLT
KDMLLEVKKRMRAEMELGLRKQTHNNAVVKMLPSFVRRTPDGTENGDFLALDLGGTNFRV
LLVKIRSGKKRTVEMHNKIYAIPIEIMQGTGEELFDHIVSCISDFLDYMGIKGPRMPLGF
TFSFPCQQTSLDAGILITWTKGFKATDCVGHDVVTLLRDAIKRREEFDLDVVAVVNDTVG
TMMTCAYEEPTCEVGLIVGTGSNACYMEEMKNVEMVEGDQGQMCINMEWGAFGDNGCLDD
IRTHYDRLVDEYSLNAGKQRYEKMISGMYLGEIVRNILIDFTKKGFLFRGQISETLKTRG
IFETKFLSQIESDRLALLQVRAILQQLGLNSTCDDSILVKTVCGVVSRRAAQLCGAGMAA
VVDKIRENRGLDRLNVTVGVDGTLYKLHPHFSRIMHQTVKELSPKCNVSFLLSEDGSGKG
AALITAVGVRLRTEASS
NT seq 2754 nt   +upstreamnt  +downstreamnt
atgatcgccgcgcagctcctggcctattacttcacggagctgaaggatgaccaggtcaaa
aagattgacaagtatctctatgccatgcggctctccgatgaaactctcatagatatcatg
actcgcttcaggaaggagatgaagaatggcctctcccgggattttaatccaacagccaca
gtcaagatgttgccaacattcgtaaggtccattcctgatggctctgaaaagggagatttc
attgccctggatcttggtgggtcttcctttcgaattctgcgggtgcaagtgaatcatgag
aaaaaccagaatgttcacatggagtccgaggtttatgacaccccagagaacatcgtgcac
ggcagtggaagccagctttttgatcatgttgctgagtgcctgggagatttcatggagaaa
aggaagatcaaggacaagaagttacctgtgggattcacgttttcttttccttgccaacaa
tccaaaatagatgaggccatcctgatcacctggacaaagcgatttaaagcgagcggagtg
gaaggagcagatgtggtcaaactgcttaacaaagccatcaaaaagcgaggggactatgat
gccaacatcgtagctgtggtgaatgacacagtgggcaccatgatgacctgtggctatgac
gaccagcactgtgaagtcggcctgatcatcggcactggcaccaatgcttgctacatggag
gaactgaggcacattgatctggtggaaggagacgaggggaggatgtgtatcaatacagaa
tggggagcctttggagacgatggatcattagaagacatccggacagagtttgacagggag
atagaccggggatccctcaaccctggaaaacagctgtttgagaagatggtcagtggcatg
tacttgggagagctggttcgactgatcctagtcaagatggccaaggagggcctcttattt
gaagggcggatcaccccggagctgctcacccgagggaagtttaacaccagtgatgtgtca
gccatcgaaaagaataaggaaggcctccacaatgccaaagaaatcctgacccgcctggga
gtggagccgtccgatgatgactgtgtctcagtccagcacgtttgcaccattgtctcattt
cgctcagccaacttggtggctgccacactgggcgccatcttgaaccgcctgcgtgataac
aagggcacacccaggctgcggaccacggttggtgtcgacggatctctttacaagacgcac
ccacagtattcccggcgtttccacaagactctaaggcgcttggtgccagactccgatgtg
cgcttcctcctctcggagagtggcagcggcaagggggctgccatggtgacggcggtggcc
taccgcttggccgagcagcaccggcagatagaggagaccctggctcatttccacctcacc
aaggacatgctgctggaggtgaagaagaggatgcgggccgagatggagctggggctgagg
aagcagacgcacaacaatgccgtggttaagatgctgccctccttcgtccggagaactccc
gacgggaccgagaatggtgacttcttggccctggatcttggaggaaccaatttccgtgtg
ctgctggtgaaaatccgtagtgggaaaaagagaacggtggaaatgcacaacaagatctac
gccattcctattgaaatcatgcagggcactggggaagagctgtttgatcacattgtctcc
tgcatctctgacttcttggactacatggggatcaaaggccccaggatgcctctgggcttc
acgttctcatttccctgccagcagacgagtctggacgcgggaatcttgatcacgtggaca
aagggttttaaggcaacagactgcgtgggccacgatgtagtcaccttactaagggatgcg
ataaaaaggagagaggaatttgacctggacgtggtggctgtggtcaacgacacagtgggc
accatgatgacctgtgcttatgaggagcccacctgtgaggttggactcattgttgggacc
ggcagcaatgcctgctacatggaggagatgaagaacgtggagatggtggagggggaccag
gggcagatgtgcatcaacatggagtggggggcctttggggacaacgggtgtctggatgat
atcaggacacactacgacagactggtggacgaatattccctaaatgctgggaaacaaagg
tatgagaagatgatcagtggtatgtacctgggtgaaatcgtccgcaacatcttaatcgac
ttcaccaagaagggattcctcttccgagggcagatctctgagacgctgaagacccggggc
atctttgagaccaagtttctctctcagatcgagagtgaccgattagcactgctccaggtc
cgggctatcctccagcagctaggtctgaatagcacctgcgatgacagtatcctcgtcaag
acagtgtgcggggtggtgtccaggagggccgcacagctgtgtggcgcaggcatggctgcg
gttgtggataagatccgcgagaacagaggactggaccgtctgaatgtgactgtgggagtg
gacgggacactctacaagcttcatccacacttctccagaatcatgcaccagacggtgaag
gaactgtcaccaaaatgtaacgtgtccttcctcctgtctgaggatggcagcggcaagggg
gccgccctcatcacggccgtgggcgtgcggttacgcacagaggcaagcagctaa

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