Homo sapiens (human): 203228
Help
Entry
203228 CDS
T01001
Symbol
C9orf72, ALSFTD, DENND9, DENNL72, FTDALS, FTDALS1
Name
(RefSeq) guanine nucleotide exchange factor C9orf72 isoform a
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
nt06464
Amyotrophic lateral sclerosis
nt06466
Pathways of neurodegeneration
nt06532
Autophagy
Element
N01142
C9orf72-mediated autophagy initiation
N01143
Mutation-inactivated C9orf72 to C9orf72-mediated autophagy initiation
Disease
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
Ortholog
Paralog
GFIT
Motif
Pfam:
C9orf72-like
Motif
Other DBs
NCBI-GeneID:
203228
NCBI-ProteinID:
NP_001242983
OMIM:
614260
HGNC:
28337
UniProt:
Q96LT7
Structure
PDB
PDBj
LinkDB
All DBs
Position
9:complement(27546546..27573866)
Genome browser
AA seq
481 aa
AA seq
DB search
MSTLCPPPSPAVAKTEIALSGKSPLLAATFAYWDNILGPRVRHIWAPKTEQVLLSDGEIT
FLANHTLNGEILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTE
LSFYLPLHRVCVDRLTHIIRKGRIWMHKERQENVQKIILEGTERMEDQGQSIIPMLTGEV
IPVMELLSSMKSHSVPEEIDIADTVLNDDDIGDSCHEGFLLNAISSHLQTCGCSVVVGSS
AEKVNKIVRTLCLFLTPAERKCSRLCEAESSFKYESGLFVQGLLKDSTGSFVLPFRQVMY
APYPTTHIDVDVNTVKQMPPCHEHIYNQRRYMRSELTAFWRATSEEDMAQDTIIYTDESF
TPDLNIFQDVLHRDTLVKAFLDQVFQLKPGLSLRSTFLAQFLLVLHRKALTLIKYIEDDT
QKGKKPFKSLRNLKIDLDLTAEGDLNIIMALAEKIKPGLHSFIFGRPFYTSVQERDVLMT
F
NT seq
1446 nt
NT seq
+upstream
nt +downstream
nt
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
Homo sapiens (human): 55255
Help
Entry
55255 CDS
T01001
Symbol
WDR41, MSTP048
Name
(RefSeq) WD repeat-containing protein 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
nt06464
Amyotrophic lateral sclerosis
nt06466
Pathways of neurodegeneration
nt06532
Autophagy
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
Ortholog
Paralog
GFIT
Motif
Pfam:
Beta-prop_WDR41
Beta-prop_WDR3_1st
Beta-prop_IFT122_1st
WD40
WD40_Prp19
Beta-prop_WDR5
Beta-prop_THOC3
Beta-prop_TEP1_2nd
WDR55
Beta-prop_WDR3_2nd
Beta-prop_WDR36-Utp21_1st
WD40_WDHD1_1st
Beta-prop_TEP1_C
Beta-prop_EML_2
WD40_CDC20-Fz
Beta-prop_CAF1B_HIR1
Beta-prop_EML
WD40_MABP1-WDR62_2nd
EIF3I
ASA1
Beta-prop_WDR90_POC16_2nd
WD40_Gbeta
Beta-prop_EIPR1
Beta-prop_RIG_2nd
WDR90_beta-prop_4th
Beta-prop_WDR75_1st
DSE1_N
Beta-prop_IP5PC_F
Beta-prop_WDR36-Utp21_2nd
PAC11
Beta-prop_NOL10_N
CFAP251_N
Beta-prop_SCAP
DUF5793
Motif
Other DBs
NCBI-GeneID:
55255
NCBI-ProteinID:
NP_060738
OMIM:
617502
HGNC:
25601
Ensembl:
ENSP00000296679.4
UniProt:
Q9HAD4
A0A0S2Z5E0
Structure
PDB
PDBj
LinkDB
All DBs
Position
5:complement(77430933..77620577)
Genome browser
AA seq
459 aa
AA seq
DB search
MLRWLIGGGREPQGLAEKSPLQTIGEEQTQNPYTELLVLKAHHDIVRFLVQLDDYRFASA
GDDGIVVVWNAQTGEKLLELNGHTQKITAIITFPSLESCEEKNQLILTASADRTVIVWDG
DTTRQVQRISCFQSTVKCLTVLQRLDVWLSGGNDLCVWNRKLDLLCKTSHLSDTGISALV
EIPKNCVVAAVGKELIIFRLVAPTEGSLEWDILEVKRLLDHQDNILSLINVNDLSFVTGS
HVGELIIWDALDWTMQAYERNFWDPSPQLDTQQEIKLCQKSNDISIHHFTCDEENVFAAV
GRGLYVYSLQMKRVIACQKTAHDSNVLHVARLPNRQLISCSEDGSVRIWELREKQQLAAE
PVPTGFFNMWGFGRVSKQASQPVKKQQENATSCSLELIGDLIGHSSSVEMFLYFEDHGLV
TCSADHLIILWKNGERESGLRSLRLFQKLEENGDLYLAV
NT seq
1380 nt
NT seq
+upstream
nt +downstream
nt
atgttgcgatggctgatcgggggaggccgagaaccgcagggactggccgagaaatctcct
ttacagacaataggtgaagaacaaacccagaatccctacactgaactgctagtactgaag
gctcatcatgatattgtacgatttctggtacagttagatgactacagatttgcatctgct
ggtgatgatggaattgtagttgtgtggaatgcccagacaggggaaaaacttttagaactg
aatggacacactcaaaagataacagctattattacatttccttccttggaatcttgtgaa
gagaaaaatcaactcatcttgacagcctctgctgatagaacagttattgtgtgggatggt
gatactaccagacaagttcagagaatatcatgcttccagtctactgtaaagtgtttaact
gttcttcagagactagatgtttggctttctggtgggaatgacctgtgtgtgtggaaccga
aaattagatctcctgtgtaagactagccacctttctgatacaggtattagtgctttggtt
gaaatacctaagaactgtgttgtggcagcagttggcaaagaactgataattttcaggttg
gtagcacccacagaaggatcactagaatgggatattcttgaagttaagcgcctccttgat
caccaggataatattctctcattgattaatgtcaatgatttgagttttgtcaccggctcc
cacgtcggagagctgatcatctgggatgccctggactggaccatgcaggcctatgaacgc
aacttctgggacccatctccacaactggacacccaacaagaaataaaactctgtcaaaaa
tcaaatgacatttctattcatcatttcacatgtgatgaagagaatgtatttgctgcagtt
ggaaggggtttatacgtgtatagccttcaaatgaagcgtgtgattgcctgccagaaaact
gcacatgactccaatgtcctgcacgttgccagacttccaaacaggcagttaatctcatgc
tcagaagatggcagtgtacgcatttgggagttaagagaaaaacagcagcttgcagctgag
cctgtaccaacaggtttttttaacatgtggggatttggaagagtcagcaaacaagccagc
caacctgttaaaaagcagcaagaaaatgctacttcatgttcactggagcttattggagat
ttgattggacactcatcatctgtggagatgtttctatactttgaagatcatggactagtg
acgtgctccgctgatcatctcattattttgtggaaaaatggagagcgagaatctggattg
cgcagtttaagattatttcaaaaattagaggagaatggtgacttataccttgctgtctag
Homo sapiens (human): 140775
Help
Entry
140775 CDS
T01001
Symbol
SMCR8, DENND8A
Name
(RefSeq) guanine nucleotide exchange protein SMCR8
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
nt06464
Amyotrophic lateral sclerosis
nt06466
Pathways of neurodegeneration
nt06532
Autophagy
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
Ortholog
Paralog
GFIT
Motif
Pfam:
SMCR8_C
Folliculin
Motif
Other DBs
NCBI-GeneID:
140775
NCBI-ProteinID:
NP_658988
OMIM:
617074
HGNC:
17921
Ensembl:
ENSP00000385025.3
UniProt:
Q8TEV9
Structure
PDB
PDBj
LinkDB
All DBs
Position
17:18315293..18328056
Genome browser
AA seq
937 aa
AA seq
DB search
MISAPDVVAFTKEEEYEEEPYNEPALPEEYSVPLFPFASQGANPWSKLSGAKFSRDFILI
SEFSEQVGPQPLLTIPNDTKVFGTFDLNYFSLRIMSVDYQASFVGHPPGSAYPKLNFVED
SKVVLGDSKEGAFAYVHHLTLYDLEARGFVRPFCMAYISADQHKIMQQFQELSAEFSRAS
ECLKTGNRKAFAGELEKKLKDLDYTRTVLHTETEIQKKANDKGFYSSQAIEKANELASVE
KSIIEHQDLLKQIRSYPHRKLKGHDLCPGEMEHIQDQASQASTTSNPDESADTDLYTCRP
AYTPKLIKAKSTKCFDKKLKTLEELCDTEYFTQTLAQLSHIEHMFRGDLCYLLTSQIDRA
LLKQQHITNFLFEDFVEVDDRMVEKQESIPSKPSQDRPPSSSLEECPIPKVLISVGSYKS
SVESVLIKMEQELGDEEYKEVEVTELSSFDPQENLDYLDMDMKGSISSGESIEVLGTEKS
TSVLSKSDSQASLTVPLSPQVVRSKAVSHRTISEDSIEVLSTCPSEALIPDDFKASYPSA
INEEESYPDGNEGAIRFQASISPPELGETEEGSIENTPSQIDSSCCIGKESDGQLVLPST
PAHTHSDEDGVVSSPPQRHRQKDQGFRVDFSVENANPSSRDNSCEGFPAYELDPSHLLAS
RDISKTSLDNYSDTTSYVSSVASTSSDRIPSAYPAGLSSDRHKKRAGQNALKFIRQYPFA
HPAIYSLLSGRTLVVLGEDEAIVRKLVTALAIFVPSYGCYAKPVKHWASSPLHIMDFQKW
KLIGLQRVASPAGAGTLHALSRYSRYTSILDLDNKTLRCPLYRGTLVPRLADHRTQIKRG
STYYLHVQSMLTQLCSKAFLYTFCHHLHLPTHDKETEELVASRQMSFLKLTLGLVNEDVR
VVQYLAELLKLHYMQESPGTSHPMLRFDYVPSFLYKI
NT seq
2814 nt
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system
