Homo sapiens (human): 140775
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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)
BRITE hierarchy
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
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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