STX5
entrez
6811
canonical
uniprot
Q13190
canonical
ensembl
ENSG00000162236
resolver
ensp
ENSP00000294179
resolver
ensp
ENSP00000367129
resolver
ensp
ENSP00000378182
resolver
ensp
ENSP00000528778
resolver
genesymbol
STX5
resolver
genesymbol
STX5A
resolver
genesymbol_syn
STX5A
resolver
hgnc
HGNC:11440
resolver
uniprot
B2R8T2
resolver
uniprot
B4DKR0
resolver
uniprot
F8W8Q9
resolver
uniprot
Q5U0D4
resolver
uniprot
Q7Z3T6
resolver
uniprot
Q9BUG1
resolver
uniprot_entry
B4DKR0_HUMAN
resolver
uniprot_entry
STX5_HUMAN
resolver
uniprot_sec
B2R8T2
resolver
uniprot_sec
F8W8Q9
resolver
uniprot_sec
Q5U0D4
resolver
uniprot_sec
Q7Z3T6
resolver
uniprot_sec
Q9BUG1
resolver
amino_acid_sequence
MIPRKRYGSKNTDQGVYLGLSKTQVLSPATAGSSSSDIAPLPPPVTLVPPPPDTMSCRDRTQEFLSACKSLQTRQNGIQTNKPALRAVRQRSEFTLMAKRIGKDLSNTFAKLEKLTILAKRKSLFDDKAVEIEELTYIIKQDINSLNKQIAQLQDFVRAKGSQSGRHLQTHSNTIVVSLQSKLASMSNDFKSVLEVRTENLKQQRSRREQFSRAPVSALPLAPNHLGGGAVVLGAESHASKDVAIDMMDSRTSQQLQLIDEQDSYIQSRADTMQNIESTIVELGSIFQQLAHMVKEQEETIQRIDENVLGAQLDVEAAHSEILKYFQSVTSNRWLMVKIFLILIVFFIIFVVFLA
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 2AA (CDG2AA) [MIM:620454]: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2AA is an autosomal recessive, early fatal form characterized by severe liver disease, skeletal abnormalities, and protein glycosylation defects. {ECO:0000269|PubMed:34711829}. Note=The disease may be caused by variants affecting the gene represented in this entry. A likely pathogenic nucleotide substitution affecting the translation initiation codon of isoform 2 has been found in a CDG2AA family, and fully abrogates isoform 2 production. Loss of isoform 2 results in altered morphology of the endoplasmic reticulum and Golgi apparatus, compromised intra-Golgi trafficking, mislocalization of glycosyltransferases, and protein glycosylation defects. {ECO:0000269|PubMed:34711829}.
uniprot
proteins
function
FUNCTION: Mediates endoplasmic reticulum to Golgi transport. Together with p115/USO1 and GM130/GOLGA2, involved in vesicle tethering and fusion at the cis-Golgi membrane to maintain the stacked and inter-connected structure of the Golgi apparatus. {ECO:0000250|UniProtKB:Q08851}.; FUNCTION: [Isoform 2]: Required for Golgi to endoplasmic reticulum retrogade transport, and for intra-Golgi transport. {ECO:0000269|PubMed:34711829}.; FUNCTION: (Microbial infection) Required for the efficient production of infectious virion during human cytomegalovirus infection. Mechanistically, participates in the formation of the cytoplasmic viral assembly compartment where tegument acquisition and envelopment occur. {ECO:0000269|PubMed:27795424}.
uniprot
proteins
mass_dalton
39673
uniprot
proteins
mutagenesis
MUTAGEN 245; /note="I->A: Loss of interaction with SEC24C."; /evidence="ECO:0000269|PubMed:18843296"; MUTAGEN 247; /note="M->A: Loss of interaction with SEC24C."; /evidence="ECO:0000269|PubMed:18843296
uniprot
proteins
protein_family
Syntaxin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18843296
uniprot
proteins
pubmed
19536132
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23701949
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27795424
uniprot
proteins
pubmed
29463886
uniprot
proteins
pubmed
34711829
uniprot
proteins
pubmed
34779586
uniprot
proteins
pubmed
9188044
uniprot
proteins
sequence_length
355
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000250|UniProtKB:Q08851}; Single-pass type IV membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:27795424}. Note=Localizes throughout the Golgi apparatus, but most abundant in the cis-most cisternae. {ECO:0000269|PubMed:27795424}.
uniprot
proteins
transmembrane_region
TRANSMEM 334..354; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins