STX5 syntaxin 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: STX5provided by HGNC
Official Full Name: syntaxin 5provided by HGNC
Primary source: HGNC:HGNC:11440
See related: Ensembl:ENSG00000162236 MIM:603189; AllianceGenome:HGNC:11440
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SED5; STX5A; CDG2AA
Summary: This gene encodes a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for v-SNAREs (vesicle-SNAP receptors), permitting specific synaptic vesicle docking and fusion. The encoded protein regulates endoplasmic reticulum to Golgi transport and plays a critical role in autophagy. Autoantibodies targeting the encoded protein may be a diagnostic marker for endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
Expression: Ubiquitous expression in thyroid (RPKM 22.3), ovary (RPKM 17.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (62806860..62832051, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (62796253..62821448, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (62574332..62599523, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human antigen R transfers miRNA to Syntaxin 5 to synergize miRNA export from activated macrophages.
Title: Human antigen R transfers miRNA to Syntaxin 5 to synergize miRNA export from activated macrophages.
Syntaxin 5 determines Weibel-Palade body size and von Willebrand factor secretion by controlling Golgi architecture.
Title: Syntaxin 5 determines Weibel-Palade body size and von Willebrand factor secretion by controlling Golgi architecture.
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.
Title: Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.
Golgin45-Syntaxin5 Interaction Contributes to Structural Integrity of the Golgi Stack.
Title: Golgin45-Syntaxin5 Interaction Contributes to Structural Integrity of the Golgi Stack.
Expression of the Syn5 K270R mutant in cells impairs post-mitotic Golgi reassembly
Title: Monoubiquitination of Syntaxin 5 Regulates Golgi Membrane Dynamics during the Cell Cycle.
Together, these data strongly suggest that syntaxin 5-mediated retrograde transport to the Golgi apparatus is a broadly conserved feature of adeno-associated virus trafficking.
Title: Syntaxin 5-dependent retrograde transport to the trans-Golgi network is required for adeno-associated virus transduction.
Stx5 might play a role in modulating VLDL-R physiology by participating in an abrasively described or completely novel Golgi-bypass pathway.
Title: Stx5 is a novel interactor of VLDL-R to affect its intracellular trafficking and processing.
serum anti-STX5 autoantibody, which was discovered by a proteomic approach, is a potential new serum marker for the diagnosis of endometriosis.
Title: Identification of anti-syntaxin 5 autoantibody as a novel serum marker of endometriosis.
Depletion of syntaxin-5 complex components results in the accumulation of autophagosomes as a result of lysosomal dysfunction, leading to decreased degradation of autophagic substrates.
Title: Autophagic substrate clearance requires activity of the syntaxin-5 SNARE complex.
Study shows that the SM protein, Sly1, interacts directly with the conserved oligomeric Golgi (COG) tethering complex; Sly1-COG interaction is mediated by the Cog4 subunit, which also interacts with Syntaxin 5 through a different binding site.
Title: Direct interaction between the COG complex and the SM protein, Sly1, is required for Golgi SNARE pairing.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital disorder of glycosylation, type IIaa MedGen: C5830651 OMIM: 620454 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of syntaxin 5 (STX5) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48793 (e-PCR)
- UniSTS:11266

RH102969 (e-PCR)
- UniSTS:97303

SHGC-2475 (e-PCR)
- UniSTS:3877

RH102034 (e-PCR)
- UniSTS:96368

RH79939 (e-PCR)
- UniSTS:86684

D11S4715 (e-PCR)
- UniSTS:68540

STS-U26648 (e-PCR)
- UniSTS:69568

RH66222 (e-PCR)
- UniSTS:15047

RH80822 (e-PCR)
- UniSTS:87760

D11S1140 (e-PCR)
- UniSTS:45010

G62080 (e-PCR)
- UniSTS:139223

WI-15662 (e-PCR)
- UniSTS:65759

STX5A_8658 (e-PCR)
- UniSTS:468726

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SNAP receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables SNAP receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables SNARE binding	IBA Inferred from Biological aspect of Ancestor more info
enables cadherin binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi disassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in early endosome to Golgi transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of Golgi organization	IDA Inferred from Direct Assay more info	PubMed
involved_in retrograde transport, endosome to Golgi	IDA Inferred from Direct Assay more info	PubMed
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle docking	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle fusion with Golgi apparatus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in ER to Golgi transport vesicle membrane	TAS Traceable Author Statement more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	TAS Traceable Author Statement more info
part_of SNARE complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SNARE complex	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	TAS Traceable Author Statement more info
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: syntaxin-5

Names: syntaxin 5A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_030034.1 RefSeqGene

Range

5041..30232

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001244666.3 → NP_001231595.1 syntaxin-5 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift and early stop codon compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

BC002645, CB155395

Consensus CDS

CCDS58140.1

UniProtKB/Swiss-Prot

Q13190

Related

ENSP00000367129.4, ENST00000377897.8

Conserved Domains (3) summary

COG5325
Location:94 → 301

COG5325; t-SNARE complex subunit, syntaxin [Intracellular trafficking and secretion]

pfam11416
Location:53 → 74

Syntaxin-5_N; Syntaxin-5 N-terminal, Sly1p-binding domain

cl22856
Location:266 → 304

SNARE; SNARE motif
NM_001330294.2 → NP_001317223.1 syntaxin-5 isoform 3

Status: REVIEWED

Source sequence(s)

BE409085, BI820950, BT019647, BX537426

Consensus CDS

CCDS81578.1

UniProtKB/Swiss-Prot

Q13190

Related

ENSP00000378182.1, ENST00000394690.5

Conserved Domains (3) summary

COG5325
Location:128 → 270

COG5325; t-SNARE complex subunit, syntaxin [Intracellular trafficking and secretion]

cd15844
Location:212 → 284

SNARE_syntaxin5; SNARE motif of syntaxin 5

pfam11416
Location:1 → 18

Syntaxin-5_N; Syntaxin-5 N-terminal, Sly1p-binding domain
NM_003164.5 → NP_003155.2 syntaxin-5 isoform 1

See identical proteins and their annotated locations for NP_003155.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).

Source sequence(s)

BE409085, CB155395, U26648

Consensus CDS

CCDS8038.2

UniProtKB/Swiss-Prot

B2R8T2, F8W8Q9, Q13190, Q5U0D4, Q7Z3T6, Q9BUG1

Related

ENSP00000294179.3, ENST00000294179.8

Conserved Domains (3) summary

COG5325
Location:182 → 324

COG5325; t-SNARE complex subunit, syntaxin [Intracellular trafficking and secretion]

cd15844
Location:266 → 338

SNARE_syntaxin5; SNARE motif of syntaxin 5

pfam11416
Location:53 → 74

Syntaxin-5_N; Syntaxin-5 N-terminal, Sly1p-binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

62806860..62832051 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011545224.4 → XP_011543526.1 syntaxin-5 isoform X2

See identical proteins and their annotated locations for XP_011543526.1

UniProtKB/TrEMBL

B4DKR0

Conserved Domains (2) summary

cd15844
Location:170 → 242

SNARE_syntaxin5; SNARE motif of syntaxin 5

cl26014
Location:86 → 228

SynN; Syntaxin N-terminus domain; syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane; they are a family of receptors for intracellular transport vesicles; each target membrane may ...
XM_047427505.1 → XP_047283461.1 syntaxin-5 isoform X1

UniProtKB/Swiss-Prot

B2R8T2, F8W8Q9, Q13190, Q5U0D4, Q7Z3T6, Q9BUG1