STX4
entrez
6810
canonical
uniprot
Q12846
canonical
ensembl
ENSG00000103496
resolver
ensp
ENSP00000317714
resolver
ensp
ENSP00000378447
resolver
ensp
ENSP00000643245
resolver
genesymbol
STX4
resolver
genesymbol
STX4A
resolver
genesymbol_syn
STX4A
resolver
hgnc
HGNC:11439
resolver
uniprot
A8MXY0
resolver
uniprot
B7Z425
resolver
uniprot
Q15525
resolver
uniprot
Q6FHE8
resolver
uniprot_entry
B7Z425_HUMAN
resolver
uniprot_entry
STX4_HUMAN
resolver
uniprot_sec
A8MXY0
resolver
uniprot_sec
Q15525
resolver
uniprot_sec
Q6FHE8
resolver
amino_acid_sequence
MRDRTHELRQGDDSSDEEDKERVALVVHPGTARLGSPDEEFFHKVRTIRQTIVKLGNKVQELEKQQVTILATPLPEESMKQELQNLRDEIKQLGREIRLQLKAIEPQKEEADENYNSVNTRMRKTQHGVLSQQFVELINKCNSMQSEYREKNVERIRRQLKITNAGMVSDEELEQMLDSGQSEVFVSNILKDTQVTRQALNEISARHSEIQQLERSIRELHDIFTFLATEVEMQGEMINRIEKNILSSADYVERGQEHVKTALENQKKARKKKVLIAICVSITVVLLAVIIGVTVVG
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 123 (DFNB123) [MIM:620745]: A form of non-syndromic deafness characterized by bilateral, severe to profound sensorineural hearing loss with onset in the first decade of life. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:36355422}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plasma membrane t-SNARE that mediates docking of transport vesicles (By similarity). Necessary for the translocation of SLC2A4 from intracellular vesicles to the plasma membrane (By similarity). In neurons, recruited at neurite tips to membrane domains rich in the phospholipid 1-oleoyl-2-palmitoyl-PC (OPPC) which promotes neurite tip surface expression of the dopamine transporter SLC6A3/DAT by facilitating fusion of SLC6A3-containing transport vesicles with the plasma membrane (By similarity). Together with STXB3 and VAMP2, may also play a role in docking/fusion of intracellular GLUT4-containing vesicles with the cell surface in adipocytes and in docking of synaptic vesicles at presynaptic active zones (By similarity). Required for normal hearing (PubMed:36355422). {ECO:0000250|UniProtKB:P70452, ECO:0000250|UniProtKB:Q08850, ECO:0000269|PubMed:36355422}.
uniprot
proteins
mass_dalton
34180
uniprot
proteins
protein_family
Syntaxin family
uniprot
proteins
pubmed
10080545
uniprot
proteins
pubmed
10508479
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
36355422
uniprot
proteins
pubmed
8206394
uniprot
proteins
pubmed
8760387
uniprot
proteins
sequence_length
297
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q08850}; Single-pass type IV membrane protein {ECO:0000305}. Cell projection, neuron projection {ECO:0000250|UniProtKB:Q08850}. Cell projection, stereocilium {ECO:0000250|UniProtKB:P70452}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:P70452}. Note=Localizes to neurite tips in neuronal cells. {ECO:0000250|UniProtKB:Q08850}.
uniprot
proteins
transmembrane_region
TRANSMEM 276..296; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins