STX8 syntaxin 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: STX8provided by HGNC
Official Full Name: syntaxin 8provided by HGNC
Primary source: HGNC:HGNC:11443
See related: Ensembl:ENSG00000170310 MIM:604203; AllianceGenome:HGNC:11443
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: CARB
Summary: The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identified on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Expression: Ubiquitous expression in testis (RPKM 14.6), fat (RPKM 9.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (9250471..9575820, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (9157469..9484308, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (9153788..9479137, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

Smuggle tau through a secret(ory) pathway.
Title: Smuggle tau through a secret(ory) pathway.
STX8 silencing restores the function ofDeltaF508-CFTR.
Title: Syntaxin 8 and the Endoplasmic Reticulum Processing of ΔF508-CFTR.
Stx8 is required for proper and timely sorting and trafficking of cytotoxic molecules to functional lytic granules through the endosomal pathway in human cytotoxic t-lymphocytes.
Title: Syntaxin 8 is required for efficient lytic granule trafficking in cytotoxic T lymphocytes.
Increased STX8 expression in visceral adipose tissue appears to be associated with the presence of type 2 diabetes in obese patients through a mechanism that may involve GLUT4.
Title: Expression of syntaxin 8 in visceral adipose tissue is increased in obese patients with type 2 diabetes and related to markers of insulin resistance and inflammation.
Syntaxin 8 has a role in regulating platelet dense granule secretion, aggregation, and thrombus stability
Title: Syntaxin 8 regulates platelet dense granule secretion, aggregation, and thrombus stability.
Syntaxin-8 regulates the endocytosis of TASK-1.
Title: Cooperative endocytosis of the endosomal SNARE protein syntaxin-8 and the potassium channel TASK-1.
These results suggest that STX8 mediates the recycling of CLDN16 and constitutes an important component of the CLDN16 trafficking machinery in the kidney.
Title: Tight junctional localization of claudin-16 is regulated by syntaxin 8 in renal tubular epithelial cells.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Molecular reclassification of Crohn's disease by cluster analysis of genetic variants.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Palmitoylation does not affect the rate of protein turnover of syntaxins 7 and 8 nor does it influence the steady-state localization of syntaxin 8 in late endosomes.
Title: Differential palmitoylation of the endosomal SNAREs syntaxin 7 and syntaxin 8.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

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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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Yeast two hybrid assay identifies the HIV-1 Nef-interacting protein syntaxin 8	PubMed
Pr55(Gag)	gag	HIV-1 Gag co-localizes with the endosomal SNARE proteins Vti1b and syntaxin 8 in HPS2 fibroblasts	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

G29125 (e-PCR)
- UniSTS:70921

D17S1791 (e-PCR), detects polymorphism
- UniSTS:14360

SHGC-3315 (e-PCR)
- UniSTS:19742

A071XD9 (e-PCR)
- UniSTS:81989

STS-H49358 (e-PCR)
- UniSTS:3399

RH35921 (e-PCR)
- UniSTS:27471

RH102024 (e-PCR)
- UniSTS:96358

SHGC-79909 (e-PCR)
- UniSTS:101478

RH121339 (e-PCR)
- UniSTS:138603

SHGC-149527 (e-PCR)
- UniSTS:177058

RH41868 (e-PCR)
- UniSTS:84904

RH122466 (e-PCR)
- UniSTS:135338

SHGC-150916 (e-PCR)
- UniSTS:173500

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SNAP receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables SNARE binding	IBA Inferred from Biological aspect of Ancestor more info
enables chloride channel inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables syntaxin binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to type II interferon	IEA Inferred from Electronic Annotation more info
involved_in early endosome to late endosome transport	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of protein localization to plasma membrane	IDA Inferred from Direct Assay 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

Component	Evidence Code	Pubs
part_of SNARE complex	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic vesicle	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
located_in recycling endosome	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: syntaxin-8

Names: CIP-1-associated regulator of cyclin B

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_047110.1 RefSeqGene

Range

5139..330488

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004853.3 → NP_004844.1 syntaxin-8

See identical proteins and their annotated locations for NP_004844.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.

Source sequence(s)

AC087501, BC009713

Consensus CDS

CCDS32565.1

UniProtKB/Swiss-Prot

O60712, Q53XT8, Q9UNK0

Related

ENSP00000305255.2, ENST00000306357.9

Conserved Domains (1) summary

cd15852
Location:152 → 204

SNARE_Syntaxin8; SNARE motif of syntaxin 8

RNA

NR_033656.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC087501, BC009713, BU596252

Related

ENST00000575858.5

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_000017.11 Reference GRCh38.p14 Primary Assembly

Range

9250471..9575820 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011524079.2 → XP_011522381.1 syntaxin-8 isoform X1

Conserved Domains (1) summary

cd15852
Location:97 → 149

SNARE_Syntaxin8; SNARE motif of syntaxin 8