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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