Homo sapiens (human): 203228
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Entry
203228 CDS
T01001
Symbol
C9orf72, ALSFTD, DENND9, DENNL72, FTDALS, FTDALS1
Name
(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
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
C9orf72-like
Motif
Other DBs
NCBI-GeneID:
203228
NCBI-ProteinID:
NP_001242983
OMIM:
614260
HGNC:
28337
Ensembl:
ENSG00000147894
UniProt:
Q96LT7
Structure
PDB
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
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