STX3
entrez
6809
canonical
uniprot
Q13277
canonical
ensembl
ENSG00000166900
resolver
ensp
ENSP00000338562
resolver
ensp
ENSP00000431386
resolver
ensp
ENSP00000433248
resolver
ensp
ENSP00000434836
resolver
ensp
ENSP00000487790
resolver
ensp
ENSP00000493027
resolver
ensp
ENSP00000557413
resolver
ensp
ENSP00000598786
resolver
ensp
ENSP00000709363
resolver
ensp
ENSP00000793147
resolver
enst
ENST00000633708
resolver
enst
ENST00000641815
resolver
genesymbol
STX3
resolver
genesymbol
STX3A
resolver
genesymbol_syn
STX3A
resolver
hgnc
HGNC:11438
resolver
uniprot
A0A0J9YW33
resolver
uniprot
A0A286YF28
resolver
uniprot
A0A8F5AFX5
resolver
uniprot
B4DME0
resolver
uniprot
O43750
resolver
uniprot
O43751
resolver
uniprot
Q15360
resolver
uniprot
Q53YE2
resolver
uniprot_entry
A0A0J9YW33_HUMAN
resolver
uniprot_entry
A0A286YF28_HUMAN
resolver
uniprot_entry
A0A8F5AFX5_HUMAN
resolver
uniprot_entry
Q53YE2_HUMAN
resolver
uniprot_entry
STX3_HUMAN
resolver
uniprot_sec
B4DME0
resolver
uniprot_sec
O43750
resolver
uniprot_sec
O43751
resolver
uniprot_sec
Q15360
resolver
amino_acid_sequence
MKDRLEQLKAKQLTQDDDTDAVEIAIDNTAFMDEFFSEIEETRLNIDKISEHVEEAKKLYSIILSAPIPEPKTKDDLEQLTTEIKKRANNVRNKLKSMEKHIEEDEVRSSADLRIRKSQHSVLSRKFVEVMTKYNEAQVDFRERSKGRIQRQLEITGKKTTDEELEEMLESGNPAIFTSGIIDSQISKQALSEIEGRHKDIVRLESSIKELHDMFMDIAMLVENQGEMLDNIELNVMHTVDHVEKARDETKKAVKYQSQARKKLIIIIVLVVVLLGILALIIGLSVGLN
uniprot
proteins
disease_involvement
DISEASE: Retinal dystrophy and microvillus inclusion disease (RDMVID) [MIM:619446]: An autosomal recessive disease characterized by early-onset, severe retinal dystrophy associated with intractable congenital diarrhea. Intestinal biopsies show loss of microvilli, microvillus inclusions, and accumulation of subapical vesicles in villus enterocytes. {ECO:0000269|PubMed:24726755, ECO:0000269|PubMed:29282386, ECO:0000269|PubMed:33974130}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Diarrhea 12, with microvillus atrophy (DIAR12) [MIM:619445]: An autosomal recessive congenital enteropathy characterized by intractable secretory diarrhea, resulting in severe dehydration and metabolic acidosis. DIAR12 can be diagnosed based on variable loss of brush-border microvilli, microvillus inclusions, and accumulation of subapical vesicles in villus enterocytes. {ECO:0000269|PubMed:24726755}. 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. Apical receptor involved in membrane fusion of apical vesicles. {ECO:0000269|PubMed:24726755}.; FUNCTION: [Isoform B]: Essential for survival of retinal photoreceetors. {ECO:0000269|PubMed:33974130}.; FUNCTION: [Isoform 3]: Functions as a regulator of gene expression. {ECO:0000269|PubMed:29475951}.
uniprot
proteins
mass_dalton
33155
uniprot
proteins
protein_family
Syntaxin family
uniprot
proteins
pubmed
10080545
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24726755
uniprot
proteins
pubmed
25358429
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29282386
uniprot
proteins
pubmed
29475951
uniprot
proteins
pubmed
33974130
uniprot
proteins
pubmed
9378770
uniprot
proteins
sequence_length
289
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform A]: Apical cell membrane {ECO:0000269|PubMed:24726755}; Single-pass type IV membrane protein {ECO:0000305}. Note=Localized to the inner and outer plexiform layers, the cell body and the inner segments of photoreceptors. {ECO:0000250|UniProtKB:Q64704}.; SUBCELLULAR LOCATION: [Isoform 3]: Nucleus {ECO:0000269|PubMed:29475951}.
uniprot
proteins
transmembrane_region
TRANSMEM 264..284; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins