STX8 syntaxin 8 [Homo sapiens] - Gene

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Summary

Official Symbol: STX8provided by HGNC
Official Full Name: syntaxin 8provided by HGNC
Primary source: HGNC:11443
See related: Ensembl:ENSG00000170310; HPRD:05012; MIM:604203
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]

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Genomic context

Location :: 17p12

Sequence :: Chromosome: 17; NC_000017.10 (9153788..9479275, complement)

See STX8 in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic risk profiling and prediction of disease course in Crohn's disease patients.
Results report that syntaxin 7, syntaxin 8, vti1b and VAMP8 physically and functionally interact with CFTR.
Title: Endosomal SNARE proteins regulate CFTR activity and trafficking in epithelial cells.
Has two functionally distinct di-leucine-based motifs that act independently in its endocytic and exocytic processes.
Title: Syntaxin 8 has two functionally distinct di-leucine-based motifs.
syntaxin 8 contributes to the regulation of CFTR trafficking and chloride channel activity by the SNARE machinery
Title: Syntaxin 8 impairs trafficking of cystic fibrosis transmembrane conductance regulator (CFTR) and inhibits its channel activity.
There are increases in CARB localized to intraneuronal neurofibrillary tangles and granulovacuolar degeneration in susceptible hippocampal and cortical neurons in Alzheimer's disease.
Title: Elevated expression of a regulator of the G2/M phase of the cell cycle, neuronal CIP-1-associated regulator of cyclin B, in Alzheimer's disease.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Genetic Signatures of Exceptional Longevity in Humans.

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_004844.1	NP_068375.3	VPS11	BIND	PubMed	VPS11 interacts with STX8 (Syntaxin-8). This interaction was modeled on a demonstrated interaction between human VPS11 and STX8 (Syntaxin-8) from an unspecified species.
NP_004844.1	NP_065908.1	VPS18	BIND	PubMed	VPS18 interacts with STX8 (Syntaxin-8). This interaction was modeled on a demonstrated interaction between human VPS18 and STX8 (Syntaxin-8) from an unspecified species.
Q9UNK0	Q04771	ACVR1	HPRD	PubMed
Q9UNK0	P53621	COPA	HPRD	PubMed
Q9UNK0	O43889	CREB3	HPRD	PubMed
Q9UNK0	P54920	NAPA	HPRD	PubMed
Q9UNK0	Q99747	NAPG	HPRD	PubMed
Q9UNK0	P46459	NSF	HPRD	PubMed
Q9UNK0	Q16623	STX1A	HPRD	PubMed
Q9UNK0	O15400	STX7	HPRD	PubMed
Q9UNK0	P36897	TGFBR1	HPRD	PubMed
Q9UNK0	Q9H270	VPS11	HPRD	PubMed
Q9UNK0	Q9P253	VPS18	HPRD	PubMed
Q9UNK0	Q9UEU0	VTI1B	HPRD	PubMed
Q9UNK0	HSPC049 protein	WDR91	HPRD	PubMed
BioGRID:114867	BioGRID:107252	CALM1	BioGRID	PubMed	Reconstituted Complex
BioGRID:114867	BioGRID:115751	CREB3	BioGRID	PubMed	Two-hybrid
BioGRID:114867	BioGRID:122781	HECTD3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114867	BioGRID:114305	NAPA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114867	BioGRID:110960	NSF	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114867	BioGRID:114003	STX7	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114867	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex
BioGRID:114867	BioGRID:114221	VAMP8	BioGRID	PubMed	Affinity Capture-Western; Co-purification
BioGRID:114867	BioGRID:126789	VTI1A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114867	BioGRID:115753	VTI1B	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid

Function	Evidence Code	Pubs
ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: syntaxin-8

Names: syntaxin-8; CIP-1-associated regulator of cyclin B

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NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

NM_004853.2 → NP_004844.1 syntaxin-8

Status: REVIEWED

Description

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

Source sequence(s)

AC087501, AF115323, BC009713

Consensus CDS

CCDS32565.1

UniProtKB/Swiss-Prot

Q9UNK0

Related

ENSP00000305255, ENST00000306357

Conserved Domains (1) summary

cd00193
Location:152 – 207
Blast Score: 109

t_SNARE; Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein (SNAP) REceptor domain; these alpha-helical motifs form twisted and parallel heterotetrameric helix bundles; the core complex contains one helix from a protein that is anchored in ...

RNA

NR_033656.1 RNA Sequence

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, AF115323, BC009713, BU596252

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 Primary Assembly

Range

9153788..9479275, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

9052731..9379133, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC005695.1 (113735..173716)	None
genomic	AC009335.10 (13893..159610)	None
genomic	AC087501.16 (46272..166059)	None
genomic	CH471108.2	EAW90028.1
		EAW90029.1
		EAW90030.1
		EAW90031.1
mRNA	AF036715.1	AAC95285.1
mRNA	AF062077.1	AAC36466.1
mRNA	AF115323.1	AAD20831.1
mRNA	BC009713.1	AAH09713.1
mRNA	BC020924.2	None
mRNA	BT007319.1	AAP35983.1
mRNA	BU596252.1	None
other-genetic	DQ890985.2	ABM81911.1
other-genetic	DQ894161.2	ABM85087.1