Q13190 · STX5_HUMAN
- ProteinSyntaxin-5
- GeneSTX5
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids355 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Isoform 2
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Biological process
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameSyntaxin-5
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ13190
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 1-333 | Cytoplasmic | ||||
Sequence: MIPRKRYGSKNTDQGVYLGLSKTQVLSPATAGSSSSDIAPLPPPVTLVPPPPDTMSCRDRTQEFLSACKSLQTRQNGIQTNKPALRAVRQRSEFTLMAKRIGKDLSNTFAKLEKLTILAKRKSLFDDKAVEIEELTYIIKQDINSLNKQIAQLQDFVRAKGSQSGRHLQTHSNTIVVSLQSKLASMSNDFKSVLEVRTENLKQQRSRREQFSRAPVSALPLAPNHLGGGAVVLGAESHASKDVAIDMMDSRTSQQLQLIDEQDSYIQSRADTMQNIESTIVELGSIFQQLAHMVKEQEETIQRIDENVLGAQLDVEAAHSEILKYFQSVTSNR | ||||||
Transmembrane | 334-354 | Helical; Anchor for type IV membrane protein | ||||
Sequence: WLMVKIFLILIVFFIIFVVFL | ||||||
Topological domain | 355 | Vesicular | ||||
Sequence: A |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Congenital disorder of glycosylation 2AA (CDG2AA)
- Note
- DescriptionA 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.
- See alsoMIM:620454
Natural variants in CDG2AA
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_088766 | 55 | M>V | in CDG2AA; the underlying nucleotide substitution affects the site of alternative translation initiation and results in complete loss of isoform 2 |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_052248 | 51 | in dbSNP:rs3802945 | |||
Sequence: P → L | ||||||
Natural variant | VAR_088766 | 55 | in CDG2AA; the underlying nucleotide substitution affects the site of alternative translation initiation and results in complete loss of isoform 2 | |||
Sequence: M → V | ||||||
Natural variant | VAR_052249 | 72 | in dbSNP:rs11231241 | |||
Sequence: Q → H | ||||||
Natural variant | VAR_035642 | 79 | in a breast cancer sample; somatic mutation | |||
Sequence: Q → H | ||||||
Natural variant | VAR_081529 | 138 | found in a patient with childhood apraxia of speech; uncertain significance; dbSNP:rs746774052 | |||
Sequence: I → V | ||||||
Mutagenesis | 245 | Loss of interaction with SEC24C. | ||||
Sequence: I → A | ||||||
Mutagenesis | 247 | Loss of interaction with SEC24C. | ||||
Sequence: M → A |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 392 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000210205 | 1-355 | UniProt | Syntaxin-5 | |||
Sequence: MIPRKRYGSKNTDQGVYLGLSKTQVLSPATAGSSSSDIAPLPPPVTLVPPPPDTMSCRDRTQEFLSACKSLQTRQNGIQTNKPALRAVRQRSEFTLMAKRIGKDLSNTFAKLEKLTILAKRKSLFDDKAVEIEELTYIIKQDINSLNKQIAQLQDFVRAKGSQSGRHLQTHSNTIVVSLQSKLASMSNDFKSVLEVRTENLKQQRSRREQFSRAPVSALPLAPNHLGGGAVVLGAESHASKDVAIDMMDSRTSQQLQLIDEQDSYIQSRADTMQNIESTIVELGSIFQQLAHMVKEQEETIQRIDENVLGAQLDVEAAHSEILKYFQSVTSNRWLMVKIFLILIVFFIIFVVFLA | |||||||
Modified residue (large scale data) | 9 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 17 | PRIDE | Phosphotyrosine | ||||
Sequence: Y | |||||||
Modified residue (large scale data) | 264 | PRIDE | Phosphoserine | ||||
Sequence: S |
Proteomic databases
PTM databases
Expression
Induction
Gene expression databases
Organism-specific databases
Interaction
Subunit
Identified in a unique SNARE complex composed of the Golgi SNAREs GOSR1, GOSR2, YKT6 and VTI1A (By similarity).
Component of a SNARE complex consisting of STX5, YKT6, GOSR1 and BET1L (By similarity).
Interacts with BET1L (PubMed:34711829).
Interacts with BET1 (PubMed:34779586).
Interacts with COG4 (PubMed:19536132).
Interacts with GM130/GOLGA2 (By similarity).
Interacts (via IxM motif) with SEC24C and SEC24D; mediates STX5 packaging into COPII-coated vesicles (PubMed:18843296).
Interacts with VLDLR; this interaction mediates VLDLR translocation from the endoplasmic reticulum to the plasma membrane (PubMed:23701949).
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, motif, domain, coiled coil.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 28-51 | Disordered | ||||
Sequence: PATAGSSSSDIAPLPPPVTLVPPP | ||||||
Motif | 245-247 | IxM motif; signal for cargo packaging into COPII-coated vesicles | ||||
Sequence: IDM | ||||||
Domain | 263-325 | t-SNARE coiled-coil homology | ||||
Sequence: DSYIQSRADTMQNIESTIVELGSIFQQLAHMVKEQEETIQRIDENVLGAQLDVEAAHSEILKY | ||||||
Coiled coil | 287-318 | |||||
Sequence: FQQLAHMVKEQEETIQRIDENVLGAQLDVEAA |
Sequence similarities
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 4 isoforms produced by Alternative splicing & Alternative initiation.
Q13190-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length355
- Mass (Da)39,673
- Last updated2006-09-05 v2
- ChecksumEE8616A226888501
Q13190-2
- Name2
- NoteProduced by alternative initiation at Met-55 of isoform 1.
- Differences from canonical
- 1-54: Missing
Q13190-3
- Name3
- NoteProduced by alternative splicing and alternative initiation.
Q13190-4
- Name4
- Differences from canonical
- 303-355: RIDENVLGAQLDVEAAHSEILKYFQSVTSNRWLMVKIFLILIVFFIIFVVFLA → SVLLFPLLPALSPGSTRTC
Computationally mapped potential isoform sequences
There are 4 potential isoforms mapped to this entry
Features
Showing features for alternative sequence.
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U26648 EMBL· GenBank· DDBJ | AAC71078.1 EMBL· GenBank· DDBJ | mRNA | ||
BX537426 EMBL· GenBank· DDBJ | CAD97668.1 EMBL· GenBank· DDBJ | mRNA | ||
AK313497 EMBL· GenBank· DDBJ | BAG36279.1 EMBL· GenBank· DDBJ | mRNA | ||
BT019646 EMBL· GenBank· DDBJ | AAV38452.1 EMBL· GenBank· DDBJ | mRNA | ||
BT019647 EMBL· GenBank· DDBJ | AAV38453.1 EMBL· GenBank· DDBJ | mRNA | ||
AP001160 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC002645 EMBL· GenBank· DDBJ | AAH02645.1 EMBL· GenBank· DDBJ | mRNA | ||
BC012137 EMBL· GenBank· DDBJ | AAH12137.2 EMBL· GenBank· DDBJ | mRNA |