KEGG   Homo sapiens (human): 6812
Entry
6812              CDS       T01001                                 

Gene name
STXBP1, MUNC18-1, N-Sec1, NSEC1, P67, RBSEC1, UNC18, unc-18A, unc18-1
Definition
(RefSeq) syntaxin binding protein 1
  KO
K15292  syntaxin-binding protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04721  Synaptic vesicle cycle
Disease
H00606  Early infantile epileptic encephalopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04721 Synaptic vesicle cycle
    6812 (STXBP1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    6812 (STXBP1)
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    6812 (STXBP1)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Small GTPases and associated proteins
   Rab associated proteins
    6812 (STXBP1)
 SNARE
  SNARE associated proteins
   Syntaxin-binding proteins
    6812 (STXBP1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   6812 (STXBP1)
SSDB
Motif
Pfam: Sec1 YlbD_coat FRB_dom
Other DBs
NCBI-GeneID: 6812
NCBI-ProteinID: NP_001027392
OMIM: 602926
HGNC: 11444
Ensembl: ENSG00000136854
Vega: OTTHUMG00000020713
Pharos: P61764(Tbio)
UniProt: P61764
Position
9q34.11
AA seq 594 aa
MAPIGLKAVVGEKIMHDVIKKVKKKGEWKVLVVDQLSMRMLSSCCKMTDIMTEGITIVED
INKRREPLPSLEAVYLITPSEKSVHSLISDFKDPPTAKYRAAHVFFTDSCPDALFNELVK
SRAAKVIKTLTEINIAFLPYESQVYSLDSADSFQSFYSPHKAQMKNPILERLAEQIATLC
ATLKEYPAVRYRGEYKDNALLAQLIQDKLDAYKADDPTMGEGPDKARSQLLILDRGFDPS
SPVLHELTFQAMSYDLLPIENDVYKYETSGIGEARVKEVLLDEDDDLWIALRHKHIAEVS
QEVTRSLKDFSSSKRMNTGEKTTMRDLSQMLKKMPQYQKELSKYSTHLHLAEDCMKHYQG
TVDKLCRVEQDLAMGTDAEGEKIKDPMRAIVPILLDANVSTYDKIRIILLYIFLKNGITE
ENLNKLIQHAQIPPEDSEIITNMAHLGVPIVTDSTLRRRSKPERKERISEQTYQLSRWTP
IIKDIMEDTIEDKLDTKHYPYISTRSSASFSTTAVSARYGHWHKNKAPGEYRSGPRLIIF
ILGGVSLNEMRCAYEVTQANGKWEVLIGSTHILTPQKLLDTLKKLNKTDEEISS
NT seq 1785 nt   +upstreamnt  +downstreamnt
atggcccccattggcctcaaagctgttgtcggagagaagattatgcatgatgtgataaag
aaggtcaagaagaagggggaatggaaggtgctggtggtggatcagttaagcatgaggatg
ctgtcctcctgctgcaagatgacagacatcatgaccgagggcataacgattgtggaagat
atcaataagcgcagagagccgctccccagcctggaggctgtgtatctcatcactccatcc
gagaagtccgtccactctctcatcagtgactttaaggacccgccgactgctaaataccgg
gctgcacacgtcttcttcactgactcttgtccagatgccctgtttaatgaactggtaaaa
tcccgagcagccaaagtcatcaaaactctgacggaaatcaatattgcatttctcccgtat
gaatcccaggtctattccttggactctgctgactctttccaaagcttctacagtccccac
aaggctcagatgaagaatcctatactggagcgcctggcagagcagatcgcgaccctttgt
gccaccctgaaggagtacccggctgtgcggtatcggggggaatacaaggacaatgccctg
ctggctcagctaatccaggacaagctcgatgcctataaagctgatgatccaacaatgggg
gagggcccagacaaggcacgctcccagctcctgatcctggatcgaggctttgaccccagc
tcccctgtgctccatgaattgacttttcaggctatgagttatgatctgctgcctatcgaa
aatgatgtatacaagtatgagaccagcggcatcggggaggcacgggtgaaggaggtgctc
ctggacgaggacgacgacctgtggatagcactgcgccacaagcacatcgcagaggtgtcc
caggaagtcacccggtctctgaaagatttttcttctagcaagagaatgaatactggagag
aagaccaccatgcgggacctgtcccagatgctgaagaagatgcctcagtaccagaaagag
ctcagcaagtactccacccacctgcaccttgctgaggactgtatgaagcattaccaaggc
accgtagacaaactctgccgagtggagcaggacctggccatgggcacagatgctgaggga
gagaagatcaaggaccctatgcgagccatcgtccccattctgctggatgccaatgtcagc
acttatgacaaaatccgcatcatccttctctacatctttttgaagaatggcatcacggag
gaaaacctgaacaaactgatccagcacgcccagatacccccggaggatagtgagatcatc
accaacatggctcacctcggcgtgcccatcgtcaccgattccacgctgcgtcgccggagc
aagccggagcggaaggaacgcatcagcgagcagacctaccagctctcacggtggactccg
attatcaaggacatcatggaggacactattgaggacaaacttgacaccaaacactaccct
tatatctctacccgttcctctgcctccttcagcaccaccgccgtcagcgcccgctatggg
cactggcataagaacaaggccccaggcgagtaccgcagtggcccccgcctcatcattttc
atccttgggggtgtgagcctgaatgagatgcgctgcgcctacgaggtgacccaggccaac
ggaaagtgggaggtgctgataggatccacacacatcctcaccccacagaaactgctggac
acactgaagaaactgaataaaacagatgaagaaataagcagttaa

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