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STXBP6 syntaxin binding protein 6 [ Homo sapiens (human) ]

Gene ID: 29091, updated on 1-Jun-2020

Summary

Official Symbol
STXBP6provided by HGNC
Official Full Name
syntaxin binding protein 6provided by HGNC
Primary source
HGNC:HGNC:19666
See related
Ensembl:ENSG00000168952 MIM:607958
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
amisyn; HSPC156
Summary
STXBP6 binds components of the SNARE complex (see MIM 603215) and may be involved in regulating SNARE complex formation (Scales et al., 2002 [PubMed 12145319]).[supplied by OMIM, Mar 2008]
Expression
Broad expression in placenta (RPKM 6.6), brain (RPKM 5.7) and 19 other tissues See more
Orthologs

Genomic context

See STXBP6 in Genome Data Viewer
Location:
14q12
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (24809654..25050297, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (25278860..25519095, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984667 Neighboring gene uncharacterized LOC105370413 Neighboring gene granzyme B Neighboring gene long intergenic non-protein coding RNA 2286 Neighboring gene uncharacterized LOC105370415

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
NHGRI GWA Catalog
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
NHGRI GWA Catalog
Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ39638

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP-Rho binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cadherin binding involved in cell-cell adhesion HDA PubMed 
phosphatidylinositol-4,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
Golgi to plasma membrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
exocyst localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of exocytosis TAS
Traceable Author Statement
more info
PubMed 
regulation of SNARE complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
adherens junction HDA PubMed 
exocyst IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

  1. NM_001304476.1NP_001291405.1  syntaxin-binding protein 6 isoform 1

    See identical proteins and their annotated locations for NP_001291405.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 4 and results in an isoform with a shorter N-terminus, compared to isoform 2. Variants 1, 2, 3, 5, 6, and 7 encode the same protein.
    Source sequence(s)
    AL161666, AL834346, BC009499, BC067278, BM738712, BQ024551, DB482578
    Consensus CDS
    CCDS9634.1
    UniProtKB/Swiss-Prot
    Q8NFX7
    Related
    ENSP00000379928.1, ENST00000396700.5
    Conserved Domains (2) summary
    cd14681
    Location:2131
    PH-STXBP6; PH-like domain of Syntaxin binding protein 6
    cd15892
    Location:149210
    R-SNARE_STXBP6; SNARE domain of STXBP6
  2. NM_001304477.1NP_001291406.1  syntaxin-binding protein 6 isoform 1

    See identical proteins and their annotated locations for NP_001291406.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 4 and results in an isoform with a shorter N-terminus, compared to isoform 2. Variants 1, 2, 3, 5, 6, and 7 encode the same protein.
    Source sequence(s)
    AK309203, AL161663, AL161666, AL834346, BC067278, BQ024551
    Consensus CDS
    CCDS9634.1
    UniProtKB/Swiss-Prot
    Q8NFX7
    Related
    ENSP00000449536.1, ENST00000546511.5
    Conserved Domains (2) summary
    cd14681
    Location:2131
    PH-STXBP6; PH-like domain of Syntaxin binding protein 6
    cd15892
    Location:149210
    R-SNARE_STXBP6; SNARE domain of STXBP6
  3. NM_001351940.1NP_001338869.1  syntaxin-binding protein 6 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) encodes the longer isoform (2).
    Source sequence(s)
    AL137164, AL161663, AL161666
    Conserved Domains (2) summary
    cd14681
    Location:14143
    PH-STXBP6; PH-like domain of Syntaxin binding protein 6
    cd15892
    Location:161222
    R-SNARE_STXBP6; SNARE domain of STXBP6
  4. NM_001351941.1NP_001338870.1  syntaxin-binding protein 6 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region, compared to variant 4 and results in an isoform with a shorter N-terminus, compared to isoform 2. Variants 1, 2, 3, 5, 6, and 7 encode the same protein.
    Source sequence(s)
    AL137164, AL161663, AL161666
    Consensus CDS
    CCDS9634.1
    Conserved Domains (2) summary
    cd14681
    Location:2131
    PH-STXBP6; PH-like domain of Syntaxin binding protein 6
    cd15892
    Location:149210
    R-SNARE_STXBP6; SNARE domain of STXBP6
  5. NM_001351942.1NP_001338871.1  syntaxin-binding protein 6 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and 5' coding region, compared to variant 4 and results in an isoform with a shorter N-terminus, compared to isoform 2. Variants 1, 2, 3, 5, 6, and 7 encode the same protein.
    Source sequence(s)
    AL137164, AL161663, AL161666
    Consensus CDS
    CCDS9634.1
    Conserved Domains (2) summary
    cd14681
    Location:2131
    PH-STXBP6; PH-like domain of Syntaxin binding protein 6
    cd15892
    Location:149210
    R-SNARE_STXBP6; SNARE domain of STXBP6
  6. NM_001351943.1NP_001338872.1  syntaxin-binding protein 6 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and 5' coding region, compared to variant 4 and results in an isoform with a shorter N-terminus, compared to isoform 2. Variants 1, 2, 3, 5, 6, and 7 encode the same protein.
    Source sequence(s)
    AL137164, AL161663, AL161666
    Consensus CDS
    CCDS9634.1
    Conserved Domains (2) summary
    cd14681
    Location:2131
    PH-STXBP6; PH-like domain of Syntaxin binding protein 6
    cd15892
    Location:149210
    R-SNARE_STXBP6; SNARE domain of STXBP6
  7. NM_014178.7NP_054897.4  syntaxin-binding protein 6 isoform 1

    See identical proteins and their annotated locations for NP_054897.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR and 5' coding region, compared to variant 4 and results in an isoform with a shorter N-terminus, compared to isoform 2. Variants 1, 2, 3, 5, 6, and 7 encode the same protein.
    Source sequence(s)
    AL161663, AL834346, BC067278, BQ024551
    Consensus CDS
    CCDS9634.1
    UniProtKB/Swiss-Prot
    Q8NFX7
    Related
    ENSP00000397212.2, ENST00000419632.6
    Conserved Domains (2) summary
    cd14681
    Location:2131
    PH-STXBP6; PH-like domain of Syntaxin binding protein 6
    cd15892
    Location:149210
    R-SNARE_STXBP6; SNARE domain of STXBP6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    24809654..25050297 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021231.2XP_016876720.1  syntaxin-binding protein 6 isoform X2

    UniProtKB/Swiss-Prot
    Q8NFX7
    Related
    ENSP00000324302.5, ENST00000323944.9
    Conserved Domains (2) summary
    cd14681
    Location:2131
    PH-STXBP6; PH-like domain of Syntaxin binding protein 6
    cd15892
    Location:149210
    R-SNARE_STXBP6; SNARE domain of STXBP6
  2. XM_011536669.2XP_011534971.1  syntaxin-binding protein 6 isoform X3

    See identical proteins and their annotated locations for XP_011534971.1

    Conserved Domains (2) summary
    cl17171
    Location:151
    PH-like; Pleckstrin homology-like domain
    cl22856
    Location:69130
    SNARE; SNARE motif
  3. XM_017021241.1XP_016876730.1  syntaxin-binding protein 6 isoform X2

    UniProtKB/Swiss-Prot
    Q8NFX7
    Conserved Domains (2) summary
    cd14681
    Location:2131
    PH-STXBP6; PH-like domain of Syntaxin binding protein 6
    cd15892
    Location:149210
    R-SNARE_STXBP6; SNARE domain of STXBP6
  4. XM_017021234.1XP_016876723.1  syntaxin-binding protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q8NFX7
    Conserved Domains (2) summary
    cd14681
    Location:14143
    PH-STXBP6; PH-like domain of Syntaxin binding protein 6
    cd15892
    Location:161222
    R-SNARE_STXBP6; SNARE domain of STXBP6
  5. XM_017021240.2XP_016876729.1  syntaxin-binding protein 6 isoform X2

    UniProtKB/Swiss-Prot
    Q8NFX7
    Conserved Domains (2) summary
    cd14681
    Location:2131
    PH-STXBP6; PH-like domain of Syntaxin binding protein 6
    cd15892
    Location:149210
    R-SNARE_STXBP6; SNARE domain of STXBP6
  6. XM_017021235.1XP_016876724.1  syntaxin-binding protein 6 isoform X2

    UniProtKB/Swiss-Prot
    Q8NFX7
    Conserved Domains (2) summary
    cd14681
    Location:2131
    PH-STXBP6; PH-like domain of Syntaxin binding protein 6
    cd15892
    Location:149210
    R-SNARE_STXBP6; SNARE domain of STXBP6
  7. XM_024449547.1XP_024305315.1  syntaxin-binding protein 6 isoform X2

    Conserved Domains (2) summary
    cd14681
    Location:2131
    PH-STXBP6; PH-like domain of Syntaxin binding protein 6
    cd15892
    Location:149210
    R-SNARE_STXBP6; SNARE domain of STXBP6
  8. XM_017021232.1XP_016876721.1  syntaxin-binding protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q8NFX7
    Conserved Domains (2) summary
    cd14681
    Location:14143
    PH-STXBP6; PH-like domain of Syntaxin binding protein 6
    cd15892
    Location:161222
    R-SNARE_STXBP6; SNARE domain of STXBP6
  9. XM_017021239.1XP_016876728.1  syntaxin-binding protein 6 isoform X2

    UniProtKB/Swiss-Prot
    Q8NFX7
    Related
    ENSP00000449379.1, ENST00000550887.5
    Conserved Domains (2) summary
    cd14681
    Location:2131
    PH-STXBP6; PH-like domain of Syntaxin binding protein 6
    cd15892
    Location:149210
    R-SNARE_STXBP6; SNARE domain of STXBP6
  10. XM_017021238.1XP_016876727.1  syntaxin-binding protein 6 isoform X2

    UniProtKB/Swiss-Prot
    Q8NFX7
    Conserved Domains (2) summary
    cd14681
    Location:2131
    PH-STXBP6; PH-like domain of Syntaxin binding protein 6
    cd15892
    Location:149210
    R-SNARE_STXBP6; SNARE domain of STXBP6
  11. XM_006720121.4XP_006720184.1  syntaxin-binding protein 6 isoform X3

    See identical proteins and their annotated locations for XP_006720184.1

    Conserved Domains (2) summary
    cl17171
    Location:151
    PH-like; Pleckstrin homology-like domain
    cl22856
    Location:69130
    SNARE; SNARE motif
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