STX1B
entrez
112755
canonical
uniprot
P61266
canonical
ensembl
ENSG00000099365
resolver
ensp
ENSP00000215095
resolver
genesymbol
STX1B
resolver
genesymbol_syn
STX1B1
resolver
genesymbol_syn
STX1B2
resolver
hgnc
HGNC:18539
resolver
uniprot
Q15531
resolver
uniprot
Q2VPS2
resolver
uniprot_entry
STX1B_HUMAN
resolver
uniprot_sec
Q15531
resolver
uniprot_sec
Q2VPS2
resolver
amino_acid_sequence
MKDRTQELRSAKDSDDEEEVVHVDRDHFMDEFFEQVEEIRGCIEKLSEDVEQVKKQHSAILAAPNPDEKTKQELEDLTADIKKTANKVRSKLKAIEQSIEQEEGLNRSSADLRIRKTQHSTLSRKFVEVMTEYNATQSKYRDRCKDRIQRQLEITGRTTTNEELEDMLESGKLAIFTDDIKMDSQMTKQALNEIETRHNEIIKLETSIRELHDMFVDMAMLVESQGEMIDRIEYNVEHSVDYVERAVSDTKKAVKYQSKARRKKIMIIICCVVLGVVLASSIGGTLGL
uniprot
proteins
disease_involvement
DISEASE: Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172]: An autosomal dominant neurologic disorder characterized by febrile and/or afebrile seizures manifesting in early childhood. Seizure are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence types. Most patients have remission of seizures later in childhood with no residual neurologic deficits. Rarely, patients may show mild developmental delay or mild intellectual disabilities. {ECO:0000269|PubMed:25362483}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
33245
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by CK2. {ECO:0000250}.
uniprot
proteins
protein_family
Syntaxin family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
18691641
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
25362483
uniprot
proteins
sequence_length
288
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 2]: Nucleus {ECO:0000269|PubMed:18691641}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:18691641}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:18691641}. Note=Colocalizes with Lamin A/C and NuMA in interphasic nuclei, and with NuMA and gamma-tubulin in the pericentrosomal region of the mitotic spindle in dividing cells.
uniprot
proteins
transmembrane_region
TRANSMEM 265..288; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins