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

Gene ID: 29091, updated on 26-May-2016
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; Vega:OTTHUMG00000140186
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]
Orthologs
Location:
14q12
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 LOC105370413 Neighboring gene granzyme B Neighboring gene uncharacterized LOC105370414 Neighboring gene uncharacterized LOC105370415

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

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
 
phosphatidylinositol-4,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
Golgi to plasma membrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
exocyst localization IBA
Inferred from Biological aspect of Ancestor
more info
 
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
exocyst IBA
Inferred from Biological aspect of Ancestor
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
syntaxin-binding protein 6
Names
syntaxin binding protein 6 (amisyn)

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

    See identical proteins and their annotated locations for NP_001291405.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AL161666, AL834346, BC009499, BC067278, BM738712, BQ024551, DB482578
    Consensus CDS
    CCDS9634.1
    UniProtKB/Swiss-Prot
    Q8NFX7
    Related
    ENSP00000379928, OTTHUMP00000178754, ENST00000396700, OTTHUMT00000276539
    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

    See identical proteins and their annotated locations for NP_001291406.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AK309203, AL161663, AL161666, AL834346, BC067278, BQ024551
    Consensus CDS
    CCDS9634.1
    UniProtKB/Swiss-Prot
    Q8NFX7
    Related
    ENSP00000449536, OTTHUMP00000243809, ENST00000546511, OTTHUMT00000409168
    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_014178.7NP_054897.4  syntaxin-binding protein 6

    See identical proteins and their annotated locations for NP_054897.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AL161663, AL834346, BC067278, BQ024551
    Consensus CDS
    CCDS9634.1
    UniProtKB/Swiss-Prot
    Q8NFX7
    Related
    ENSP00000397212, OTTHUMP00000243808, ENST00000419632, OTTHUMT00000409167
    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 Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011536669.1XP_011534971.1  

    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
  2. XM_011536668.1XP_011534970.1  

    See identical proteins and their annotated locations for XP_011534970.1

    Conserved Domains (2) summary
    cl17171
    Location:151
    PH-like; Pleckstrin homology-like domain
    cl22856
    Location:69130
    SNARE; SNARE motif
  3. XM_006720121.2XP_006720184.1  

    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

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 Alternate CHM1_1.1

    Range
    25277738..25518454 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)