KEGG   Homo sapiens (human): 140775
Entry
140775            CDS       T01001                                 
Symbol
SMCR8, DENND8A
Name
(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
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
Motif
Pfam: Folliculin
Other DBs
NCBI-GeneID: 140775
NCBI-ProteinID: NP_658988
OMIM: 617074
HGNC: 17921
Ensembl: ENSG00000176994
UniProt: Q8TEV9
Structure
Position
17:18315293..18328056
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (3)   
   KEGG PATHWAY (3)   
Network (5)   
   KEGG NETWORK (5)   
Disease (1)   
   OMIM (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   RefGene (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (27)   
   RefSeq(nuc) (1)   
   GenBank (13)   
   EMBL (13)   
3D Structure (5)   
   PDB (5)   
Protein domain (1)   
   Pfam (1)   
All databases (64)   

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