STXBP1
entrez
6812
canonical
uniprot
P61764
canonical
ensembl
ENSG00000136854
resolver
ensp
ENSP00000362396
resolver
ensp
ENSP00000362399
resolver
ensp
ENSP00000485895
resolver
ensp
ENSP00000486814
resolver
ensp
ENSP00000486944
resolver
ensp
ENSP00000487211
resolver
ensp
ENSP00000489762
resolver
ensp
ENSP00000489791
resolver
ensp
ENSP00000490519
resolver
ensp
ENSP00000490613
resolver
ensp
ENSP00000490903
resolver
ensp
ENSP00000498834
resolver
ensp
ENSP00000515991
resolver
ensp
ENSP00000614244
resolver
enst
ENST00000625363
resolver
enst
ENST00000626333
resolver
enst
ENST00000626539
resolver
enst
ENST00000627871
resolver
enst
ENST00000635950
resolver
enst
ENST00000636962
resolver
enst
ENST00000637173
resolver
enst
ENST00000637521
resolver
enst
ENST00000637953
resolver
enst
ENST00000650920
resolver
enst
ENST00000704680
resolver
genesymbol
STXBP1
resolver
genesymbol_syn
UNC18A
resolver
hgnc
HGNC:11444
resolver
uniprot
A0A0D9SEP9
resolver
uniprot
A0A0D9SFQ7
resolver
uniprot
A0A0D9SFW6
resolver
uniprot
A0A0D9SG72
resolver
uniprot
A0A1B0GTP9
resolver
uniprot
A0A1B0GVQ5
resolver
uniprot
A0A1B0GWF2
resolver
uniprot
B1AM97
resolver
uniprot
Q28208
resolver
uniprot
Q62759
resolver
uniprot
Q64320
resolver
uniprot
Q68CM6
resolver
uniprot
Q96TG8
resolver
uniprot_entry
A0A0D9SG72_HUMAN
resolver
uniprot_entry
A0A1B0GTP9_HUMAN
resolver
uniprot_entry
A0A1B0GVQ5_HUMAN
resolver
uniprot_entry
A0A1B0GWF2_HUMAN
resolver
uniprot_entry
STXB1_HUMAN
resolver
uniprot_sec
A0A0D9SEP9
resolver
uniprot_sec
A0A0D9SFQ7
resolver
uniprot_sec
A0A0D9SFW6
resolver
uniprot_sec
B1AM97
resolver
uniprot_sec
Q28208
resolver
uniprot_sec
Q62759
resolver
uniprot_sec
Q64320
resolver
uniprot_sec
Q68CM6
resolver
uniprot_sec
Q96TG8
resolver
amino_acid_sequence
MAPIGLKAVVGEKIMHDVIKKVKKKGEWKVLVVDQLSMRMLSSCCKMTDIMTEGITIVEDINKRREPLPSLEAVYLITPSEKSVHSLISDFKDPPTAKYRAAHVFFTDSCPDALFNELVKSRAAKVIKTLTEINIAFLPYESQVYSLDSADSFQSFYSPHKAQMKNPILERLAEQIATLCATLKEYPAVRYRGEYKDNALLAQLIQDKLDAYKADDPTMGEGPDKARSQLLILDRGFDPSSPVLHELTFQAMSYDLLPIENDVYKYETSGIGEARVKEVLLDEDDDLWIALRHKHIAEVSQEVTRSLKDFSSSKRMNTGEKTTMRDLSQMLKKMPQYQKELSKYSTHLHLAEDCMKHYQGTVDKLCRVEQDLAMGTDAEGEKIKDPMRAIVPILLDANVSTYDKIRIILLYIFLKNGITEENLNKLIQHAQIPPEDSEIITNMAHLGVPIVTDSTLRRRSKPERKERISEQTYQLSRWTPIIKDIMEDTIEDKLDTKHYPYISTRSSASFSTTAVSARYGHWHKNKAPGEYRSGPRLIIFILGGVSLNEMRCAYEVTQANGKWEVLIGSTHILTPQKLLDTLKKLNKTDEEISS
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164]: A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Affected individuals have neonatal or infantile onset of seizures, profound intellectual disability, and MRI evidence of brain hypomyelination. {ECO:0000269|PubMed:18469812, ECO:0000269|PubMed:20887364, ECO:0000269|PubMed:21770924, ECO:0000269|PubMed:23662938, ECO:0000269|PubMed:23708187, ECO:0000269|PubMed:24170257, ECO:0000269|PubMed:24623842, ECO:0000269|PubMed:25714420, ECO:0000269|PubMed:25818041, ECO:0000269|PubMed:26993267, ECO:0000269|PubMed:27864847}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Participates in the regulation of synaptic vesicle docking and fusion through interaction with GTP-binding proteins (By similarity). Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. Involved in the release of neurotransmitters from neurons through interacting with SNARE complex component STX1A and mediating the assembly of the SNARE complex at synaptic membranes (By similarity). May play a role in determining the specificity of intracellular fusion reactions. {ECO:0000250|UniProtKB:O08599, ECO:0000250|UniProtKB:P61765}.
uniprot
proteins
mass_dalton
67569
uniprot
proteins
protein_family
STXBP/unc-18/SEC1 family
uniprot
proteins
pubmed
12730201
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18469812
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20887364
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21770924
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23662938
uniprot
proteins
pubmed
23708187
uniprot
proteins
pubmed
24170257
uniprot
proteins
pubmed
24623842
uniprot
proteins
pubmed
25714420
uniprot
proteins
pubmed
25818041
uniprot
proteins
pubmed
26993267
uniprot
proteins
pubmed
27597756
uniprot
proteins
pubmed
27864847
uniprot
proteins
pubmed
8824310
uniprot
proteins
pubmed
9545644
uniprot
proteins
sequence_length
594
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:20887364}. Membrane; Peripheral membrane protein.
uniprot
proteins