KEGG   Homo sapiens (human): 203228
Entry
203228            CDS       T01001                                 

Gene name
C9orf72, ALSFTD, DENND9, DENNL72, FTDALS, FTDALS1
Definition
(RefSeq) C9orf72-SMCR8 complex subunit
  KO
K23609  guanine nucleotide exchange protein C9orf72
Organism
hsa  Homo sapiens (human)
Pathway
hsa04140  Autophagy - animal
hsa05014  Amyotrophic lateral sclerosis
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06413  Autophagy
nt06464  Amyotrophic lateral sclerosis
  Element
N01142  C9orf72-mediated autophagy initiation
N01143  Mutation-inactivated C9orf72 to C9orf72-mediated autophagy initiation
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
H02342  Frontotemporal dementia and amyotrophic lateral sclerosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04140 Autophagy - animal
    203228 (C9orf72)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    203228 (C9orf72)
   05022 Pathways of neurodegeneration - multiple diseases
    203228 (C9orf72)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    203228 (C9orf72)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Other autophagy associated proteins
   Rab associated proteins
    203228 (C9orf72)
SSDB
Motif
Pfam: C9orf72-like
Other DBs
NCBI-GeneID: 203228
NCBI-ProteinID: NP_001242983
OMIM: 614260
HGNC: 28337
Ensembl: ENSG00000147894
Vega: OTTHUMG00000019716
Pharos: Q96LT7(Tbio)
UniProt: Q96LT7
LinkDB
Position
9p21.2
AA seq 481 aa
MSTLCPPPSPAVAKTEIALSGKSPLLAATFAYWDNILGPRVRHIWAPKTEQVLLSDGEIT
FLANHTLNGEILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTE
LSFYLPLHRVCVDRLTHIIRKGRIWMHKERQENVQKIILEGTERMEDQGQSIIPMLTGEV
IPVMELLSSMKSHSVPEEIDIADTVLNDDDIGDSCHEGFLLNAISSHLQTCGCSVVVGSS
AEKVNKIVRTLCLFLTPAERKCSRLCEAESSFKYESGLFVQGLLKDSTGSFVLPFRQVMY
APYPTTHIDVDVNTVKQMPPCHEHIYNQRRYMRSELTAFWRATSEEDMAQDTIIYTDESF
TPDLNIFQDVLHRDTLVKAFLDQVFQLKPGLSLRSTFLAQFLLVLHRKALTLIKYIEDDT
QKGKKPFKSLRNLKIDLDLTAEGDLNIIMALAEKIKPGLHSFIFGRPFYTSVQERDVLMT
F
NT seq 1446 nt   +upstreamnt  +downstreamnt
atgtcgactctttgcccaccgccatctccagctgttgccaagacagagattgctttaagt
ggcaaatcacctttattagcagctacttttgcttactgggacaatattcttggtcctaga
gtaaggcacatttgggctccaaagacagaacaggtacttctcagtgatggagaaataact
tttcttgccaaccacactctaaatggagaaatccttcgaaatgcagagagtggtgctata
gatgtaaagttttttgtcttgtctgaaaagggagtgattattgtttcattaatctttgat
ggaaactggaatggggatcgcagcacatatggactatcaattatacttccacagacagaa
cttagtttctacctcccacttcatagagtgtgtgttgatagattaacacatataatccgg
aaaggaagaatatggatgcataaggaaagacaagaaaatgtccagaagattatcttagaa
ggcacagagagaatggaagatcagggtcagagtattattccaatgcttactggagaagtg
attcctgtaatggaactgctttcatctatgaaatcacacagtgttcctgaagaaatagat
atagctgatacagtactcaatgatgatgatattggtgacagctgtcatgaaggctttctt
ctcaatgccatcagctcacacttgcaaacctgtggctgttccgttgtagtaggtagcagt
gcagagaaagtaaataagatagtcagaacattatgcctttttctgactccagcagagaga
aaatgctccaggttatgtgaagcagaatcatcatttaaatatgagtcagggctctttgta
caaggcctgctaaaggattcaactggaagctttgtgctgcctttccggcaagtcatgtat
gctccatatcccaccacacacatagatgtggatgtcaatactgtgaagcagatgccaccc
tgtcatgaacatatttataatcagcgtagatacatgagatccgagctgacagccttctgg
agagccacttcagaagaagacatggctcaggatacgatcatctacactgacgaaagcttt
actcctgatttgaatatttttcaagatgtcttacacagagacactctagtgaaagccttc
ctggatcaggtctttcagctgaaacctggcttatctctcagaagtactttccttgcacag
tttctacttgtccttcacagaaaagccttgacactaataaaatatatagaagacgatacg
cagaagggaaaaaagccctttaaatctcttcggaacctgaagatagaccttgatttaaca
gcagagggcgatcttaacataataatggctctggctgagaaaattaaaccaggcctacac
tcttttatctttggaagacctttctacactagtgtgcaagaacgagatgttctaatgact
ttttaa

KEGG   Homo sapiens (human): 55255
Entry
55255             CDS       T01001                                 

Gene name
WDR41, MSTP048
Definition
(RefSeq) WD repeat domain 41
  KO
K23610  WD repeat-containing protein 41
Organism
hsa  Homo sapiens (human)
Pathway
hsa04140  Autophagy - animal
hsa05014  Amyotrophic lateral sclerosis
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06413  Autophagy
nt06464  Amyotrophic lateral sclerosis
  Element
N01142  C9orf72-mediated autophagy initiation
N01143  Mutation-inactivated C9orf72 to C9orf72-mediated autophagy initiation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04140 Autophagy - animal
    55255 (WDR41)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    55255 (WDR41)
   05022 Pathways of neurodegeneration - multiple diseases
    55255 (WDR41)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    55255 (WDR41)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Other autophagy associated proteins
   Rab associated proteins
    55255 (WDR41)
SSDB
Motif
Pfam: WD40 DUF5793
Other DBs
NCBI-GeneID: 55255
NCBI-ProteinID: NP_060738
OMIM: 617502
HGNC: 25601
Ensembl: ENSG00000164253
Vega: OTTHUMG00000102169
Pharos: Q9HAD4(Tbio)
UniProt: Q9HAD4 A0A0S2Z5E0
LinkDB
Position
5q13.3-q14.1
AA seq 459 aa
MLRWLIGGGREPQGLAEKSPLQTIGEEQTQNPYTELLVLKAHHDIVRFLVQLDDYRFASA
GDDGIVVVWNAQTGEKLLELNGHTQKITAIITFPSLESCEEKNQLILTASADRTVIVWDG
DTTRQVQRISCFQSTVKCLTVLQRLDVWLSGGNDLCVWNRKLDLLCKTSHLSDTGISALV
EIPKNCVVAAVGKELIIFRLVAPTEGSLEWDILEVKRLLDHQDNILSLINVNDLSFVTGS
HVGELIIWDALDWTMQAYERNFWDPSPQLDTQQEIKLCQKSNDISIHHFTCDEENVFAAV
GRGLYVYSLQMKRVIACQKTAHDSNVLHVARLPNRQLISCSEDGSVRIWELREKQQLAAE
PVPTGFFNMWGFGRVSKQASQPVKKQQENATSCSLELIGDLIGHSSSVEMFLYFEDHGLV
TCSADHLIILWKNGERESGLRSLRLFQKLEENGDLYLAV
NT seq 1380 nt   +upstreamnt  +downstreamnt
atgttgcgatggctgatcgggggaggccgagaaccgcagggactggccgagaaatctcct
ttacagacaataggtgaagaacaaacccagaatccctacactgaactgctagtactgaag
gctcatcatgatattgtacgatttctggtacagttagatgactacagatttgcatctgct
ggtgatgatggaattgtagttgtgtggaatgcccagacaggggaaaaacttttagaactg
aatggacacactcaaaagataacagctattattacatttccttccttggaatcttgtgaa
gagaaaaatcaactcatcttgacagcctctgctgatagaacagttattgtgtgggatggt
gatactaccagacaagttcagagaatatcatgcttccagtctactgtaaagtgtttaact
gttcttcagagactagatgtttggctttctggtgggaatgacctgtgtgtgtggaaccga
aaattagatctcctgtgtaagactagccacctttctgatacaggtattagtgctttggtt
gaaatacctaagaactgtgttgtggcagcagttggcaaagaactgataattttcaggttg
gtagcacccacagaaggatcactagaatgggatattcttgaagttaagcgcctccttgat
caccaggataatattctctcattgattaatgtcaatgatttgagttttgtcaccggctcc
cacgtcggagagctgatcatctgggatgccctggactggaccatgcaggcctatgaacgc
aacttctgggacccatctccacaactggacacccaacaagaaataaaactctgtcaaaaa
tcaaatgacatttctattcatcatttcacatgtgatgaagagaatgtatttgctgcagtt
ggaaggggtttatacgtgtatagccttcaaatgaagcgtgtgattgcctgccagaaaact
gcacatgactccaatgtcctgcacgttgccagacttccaaacaggcagttaatctcatgc
tcagaagatggcagtgtacgcatttgggagttaagagaaaaacagcagcttgcagctgag
cctgtaccaacaggtttttttaacatgtggggatttggaagagtcagcaaacaagccagc
caacctgttaaaaagcagcaagaaaatgctacttcatgttcactggagcttattggagat
ttgattggacactcatcatctgtggagatgtttctatactttgaagatcatggactagtg
acgtgctccgctgatcatctcattattttgtggaaaaatggagagcgagaatctggattg
cgcagtttaagattatttcaaaaattagaggagaatggtgacttataccttgctgtctag

KEGG   Homo sapiens (human): 140775
Entry
140775            CDS       T01001                                 

Gene name
SMCR8, DENND8A
Definition
(RefSeq) SMCR8-C9orf72 complex subunit
  KO
K23611  guanine nucleotide exchange protein SMCR8
Organism
hsa  Homo sapiens (human)
Pathway
hsa04140  Autophagy - animal
hsa05014  Amyotrophic lateral sclerosis
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06413  Autophagy
nt06464  Amyotrophic lateral sclerosis
  Element
N01142  C9orf72-mediated autophagy initiation
N01143  Mutation-inactivated C9orf72 to C9orf72-mediated autophagy initiation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04140 Autophagy - animal
    140775 (SMCR8)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    140775 (SMCR8)
   05022 Pathways of neurodegeneration - multiple diseases
    140775 (SMCR8)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    140775 (SMCR8)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Other autophagy associated proteins
   Rab associated proteins
    140775 (SMCR8)
SSDB
Motif
Pfam: Folliculin
Other DBs
NCBI-GeneID: 140775
NCBI-ProteinID: NP_658988
OMIM: 617074
HGNC: 17921
Ensembl: ENSG00000176994
Vega: OTTHUMG00000059394
Pharos: Q8TEV9(Tdark)
UniProt: Q8TEV9
LinkDB
Position
17p11.2
AA seq 937 aa
MISAPDVVAFTKEEEYEEEPYNEPALPEEYSVPLFPFASQGANPWSKLSGAKFSRDFILI
SEFSEQVGPQPLLTIPNDTKVFGTFDLNYFSLRIMSVDYQASFVGHPPGSAYPKLNFVED
SKVVLGDSKEGAFAYVHHLTLYDLEARGFVRPFCMAYISADQHKIMQQFQELSAEFSRAS
ECLKTGNRKAFAGELEKKLKDLDYTRTVLHTETEIQKKANDKGFYSSQAIEKANELASVE
KSIIEHQDLLKQIRSYPHRKLKGHDLCPGEMEHIQDQASQASTTSNPDESADTDLYTCRP
AYTPKLIKAKSTKCFDKKLKTLEELCDTEYFTQTLAQLSHIEHMFRGDLCYLLTSQIDRA
LLKQQHITNFLFEDFVEVDDRMVEKQESIPSKPSQDRPPSSSLEECPIPKVLISVGSYKS
SVESVLIKMEQELGDEEYKEVEVTELSSFDPQENLDYLDMDMKGSISSGESIEVLGTEKS
TSVLSKSDSQASLTVPLSPQVVRSKAVSHRTISEDSIEVLSTCPSEALIPDDFKASYPSA
INEEESYPDGNEGAIRFQASISPPELGETEEGSIENTPSQIDSSCCIGKESDGQLVLPST
PAHTHSDEDGVVSSPPQRHRQKDQGFRVDFSVENANPSSRDNSCEGFPAYELDPSHLLAS
RDISKTSLDNYSDTTSYVSSVASTSSDRIPSAYPAGLSSDRHKKRAGQNALKFIRQYPFA
HPAIYSLLSGRTLVVLGEDEAIVRKLVTALAIFVPSYGCYAKPVKHWASSPLHIMDFQKW
KLIGLQRVASPAGAGTLHALSRYSRYTSILDLDNKTLRCPLYRGTLVPRLADHRTQIKRG
STYYLHVQSMLTQLCSKAFLYTFCHHLHLPTHDKETEELVASRQMSFLKLTLGLVNEDVR
VVQYLAELLKLHYMQESPGTSHPMLRFDYVPSFLYKI
NT seq 2814 nt   +upstreamnt  +downstreamnt
atgatcagcgcccctgacgtagtggccttcaccaaagaggaagagtatgaagaagagcct
tacaatgagccggccctgcctgaggagtactcggtgccgctcttccccttcgccagtcag
ggtgctaacccctggtcaaaactgtccggggccaagttttcgagggacttcattcttatt
tccgagttctctgagcaggtgggaccccaacccttactgaccatccccaatgacaccaaa
gtttttggcacttttgatctcaattacttctccctgcgtatcatgtctgtggattaccag
gcttccttcgtgggccatcctcctggatctgcctaccccaagctgaacttcgtggaggac
tccaaggtggtgctgggagattctaaggagggcgcctttgcatacgtgcaccaccttacc
ctatacgacctggaggcccgtggcttcgtgaggccgttttgcatggcttatatctctgca
gaccagcataaaatcatgcagcagttccaggagctttcagccgaattttccagagcttct
gagtgcttgaagactggcaacaggaaggcatttgctggggaacttgaaaaaaagctgaaa
gacttggattacaccaggacagtgctacacacagaaacggagatccagaagaaagccaac
gacaaaggcttttactcatctcaggcaattgagaaagccaatgaactggccagtgtggag
aagtccatcattgaacatcaagacctgctgaagcagatccgctcataccctcatcggaag
ttgaaggggcatgatttgtgtcctggtgagatggagcacatccaggatcaggccagccag
gcatccactacctctaaccctgatgagtctgccgacacagacctttacacctgcagacca
gcctacaccccaaaacttatcaaagcaaagtccaccaagtgttttgacaagaagttgaag
accttggaggagctctgtgacactgaatatttcacccagaccctggctcagctcagccac
attgaacacatgttcagaggagacctgtgttacctcctgaccagtcagattgatagagca
cttctaaaacaacagcatataacaaactttctctttgaagactttgtggaggtcgatgac
aggatggtggagaaacaagaaagcataccctctaagcccagtcaagacaggccgccttcc
agttctctagaagaatgcccaattcctaaagtgttaattagtgttggttcttacaagtcc
agtgtggagtctgtgttgatcaagatggagcaggaactgggagatgaggagtacaaggaa
gtggaagtgactgagttgagcagtttcgacccccaggaaaacttggactacctggatatg
gatatgaaagggagtatcagcagtggtgaaagtattgaagttttgggcacggagaaatcc
acctccgtgctttctaaatctgacagccaggcaagcctcacagtaccattgagcccccag
gtggtccggagcaaagcagtcagccacaggaccatcagcgaggacagtattgaagtcctc
agtacctgcccctctgaggccctcatccctgatgactttaaggccagctacccaagtgcc
attaatgaagaagaatcatatccagatggcaatgaaggagccatccgcttccaggcaagc
atcagtcctccagaactgggtgagacagaggaaggcagcatagaaaacaccccatcacaa
atagactcctcctgctgtattgggaaggagagcgatggtcagttggtgctgccctccact
ccagcccacacacactctgacgaggatggggtggtgagcagccccccacagcgccacagg
cagaaggaccaggggttccgtgtagacttttcagtggaaaatgccaacccttcttcccga
gacaacagttgtgaagggtttcccgcttatgagctggacccgagccacctgctggctagc
cgggacatcagtaagaccagcctggacaactactcagacaccaccagctacgtgagcagt
gtagcgtccaccagctcagacaggatcccctctgcttatcctgctggcctgtcttccgat
aggcataaaaagagggctggccagaacgccttaaaattcatccgccagtacccctttgcc
cacccagccatctactccctgctcagtgggaggacacttgtggtcctgggggaagatgag
gccatagtcaggaaactcgtgactgcactggctatctttgtccccagctatggctgctac
gctaagcccgtgaaacattgggcctcctcccctttgcacattatggattttcagaagtgg
aagcttattggcttgcagagagtggcctcccctgccggtgccggtaccctccatgccctg
agccgctacagccgctacacgagcatcctggaccttgacaacaaaaccctgcgctgcccc
ctttacagaggcaccctggtgccccgcctggcagaccaccgcacacagatcaagcggggc
agcacctactacctgcatgtccagagcatgctcacccagctctgctccaaggccttcctc
tacaccttctgccaccacctgcacctgcctacccacgacaaggagacagaggagctggta
gccagccgccagatgagcttcctaaagctgaccctgggtctggtgaatgaggatgttagg
gtggtccagtacctggctgagctgctgaagctgcactacatgcaggaatctccagggacc
agccaccccatgctcaggtttgactatgtccccagctttttgtataaaatctga

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