STX11 syntaxin 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: STX11provided by HGNC
Official Full Name: syntaxin 11provided by HGNC
Primary source: HGNC:HGNC:11429
See related: Ensembl:ENSG00000135604 MIM:605014; AllianceGenome:HGNC:11429
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: FHL4; HLH4; HPLH4
Summary: This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]
Expression: Biased expression in bone marrow (RPKM 13.4), fat (RPKM 5.2) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q24.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (144139963..144191939)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (145332677..145384568)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (144471654..144513076)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.
Title: Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.
Dynamic palmitoylation of STX11 controls injury-induced fatty acid uptake to promote muscle regeneration.
Title: Dynamic palmitoylation of STX11 controls injury-induced fatty acid uptake to promote muscle regeneration.
Syntaxin 11 Contributes to the Interferon-Inducible Restriction of Coxiella burnetii Intracellular Infection.
Title: Syntaxin 11 Contributes to the Interferon-Inducible Restriction of Coxiella burnetii Intracellular Infection.
Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period.
Title: Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period.
Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis.
Title: Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis.
STX11-deficient familial hemophagocytic lymphohistiocytosis type 4 is associated with self-resolving flares and a milder clinical course.
Title: STX11-deficient familial hemophagocytic lymphohistiocytosis type 4 is associated with self-resolving flares and a milder clinical course.
Data suggest that acylation of SNAP23 (synaptosome associated protein 23) and STX11 (syntaxin-11) regulates exocytosis in platelets; maintaining acylation states of SNAP23 and STX11 is important for platelet function.
Title: Dynamic cycling of t-SNARE acylation regulates platelet exocytosis.
Neonatal platelets exhibit low levels of the Stx11-Munc18b complex (essential component of the SNARE machinery) and of beta1-tubulin. These developmental deficiencies are associated with defects in platelet adhesion, spreading and secretion.
Title: Down Regulation of the Munc18b-syntaxin-11 Complex and β1-tubulin Impairs Secretion and Spreading in Neonatal Platelets.
The results suggest that STX11 plays an important role in the pathogenesis of Peripheral T-cell lymphomas and they may contribute to the future development of new drugs for the treatment of Peripheral T-cell lymphomas.
Title: STX11 functions as a novel tumor suppressor gene in peripheral T-cell lymphomas.
a pivotal role for S-acylation in the function of syntaxin 11 in NK cells
Title: Analysis of familial hemophagocytic lymphohistiocytosis type 4 (FHL-4) mutant proteins reveals that S-acylation is required for the function of syntaxin 11 in natural killer cells.

Submit: New GeneRIF Correction See all GeneRIFs (26)

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
Familial hemophagocytic lymphohistiocytosis 4 MedGen: C1863728 OMIM: 603552 GeneReviews: Not available	Compare labs

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH37559 (e-PCR)
- UniSTS:74787

RH93390 (e-PCR)
- UniSTS:90769

STS-R66896 (e-PCR)
- UniSTS:10907

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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in exocytosis	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 membrane fusion	TAS Traceable Author Statement more info	PubMed
involved_in synaptic vesicle fusion to presynaptic active zone membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle docking	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
part_of SNARE complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in presynaptic active zone membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: syntaxin-11

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.