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STXBP5L syntaxin binding protein 5 like [ Homo sapiens (human) ]

Gene ID: 9515, updated on 12-May-2016
Official Symbol
STXBP5Lprovided by HGNC
Official Full Name
syntaxin binding protein 5 likeprovided by HGNC
Primary source
HGNC:HGNC:30757
See related
Ensembl:ENSG00000145087 MIM:609381; Vega:OTTHUMG00000159426
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
LLGL4
Orthologs
Location:
3q13.33
Exon count:
33
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (120908203..121424761)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (120627050..121143608)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101926983 Neighboring gene uncharacterized LOC105374069 Neighboring gene zinc finger protein 426 pseudogene Neighboring gene microRNA 5682 Neighboring gene actin related protein 2/3 complex subunit 1A pseudogene Neighboring gene polymerase (DNA) theta Neighboring gene ribosomal protein L7a pseudogene 11 Neighboring gene uncharacterized LOC105374070 Neighboring gene arginine-fifty homeobox

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging.
NHGRI GWA Catalog
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1006

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
 
syntaxin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
exocytosis IEA
Inferred from Electronic Annotation
more info
 
glucose homeostasis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein secretion IEA
Inferred from Electronic Annotation
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of protein secretion IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
SNARE complex 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
 
secretory granule IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
syntaxin-binding protein 5-like
Names
lethal(2) giant larvae protein homolog 4
syntaxin binding protein 5-like
tomosyn-2
tomosyn-like

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_001308330.1NP_001295259.1  syntaxin-binding protein 5-like isoform 2

    See identical proteins and their annotated locations for NP_001295259.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 2 which is shorter compared to isoform 1.
    Source sequence(s)
    AC078854, AC079841, AI279148, AK296544, DC324331
    Consensus CDS
    CCDS77799.1
    UniProtKB/TrEMBL
    B4DKF6, E9PFI2
    Conserved Domains (4) summary
    pfam08366
    Location:285397
    LLGL; LLGL2
    COG2319
    Location:109494
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:74281
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cd15893
    Location:10951155
    R-SNARE_STXBP5; SNARE domain of STXBP5
  2. NM_014980.2NP_055795.1  syntaxin-binding protein 5-like isoform 1

    See identical proteins and their annotated locations for NP_055795.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB023223, AC079841, AI279148, DC324331
    Consensus CDS
    CCDS43137.1
    UniProtKB/Swiss-Prot
    Q9Y2K9
    Related
    ENSP00000273666, OTTHUMP00000215251, ENST00000273666, OTTHUMT00000355256
    Conserved Domains (4) summary
    pfam08366
    Location:285397
    LLGL; LLGL2
    COG2319
    Location:109494
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:74281
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cd15893
    Location:11191179
    R-SNARE_STXBP5; SNARE domain of STXBP5

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_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    120908203..121424761
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247907.1XP_005247964.1  

    Related
    ENSP00000420019, OTTHUMP00000215270, ENST00000471454, OTTHUMT00000355284
    Conserved Domains (4) summary
    pfam08366
    Location:285397
    LLGL; LLGL2
    COG2319
    Location:109494
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:74281
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cd15893
    Location:10951155
    R-SNARE_STXBP5; SNARE domain of STXBP5
  2. XM_011513331.1XP_011511633.1  

    Conserved Domains (3) summary
    pfam08366
    Location:285397
    LLGL; LLGL2
    COG2319
    Location:109494
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:74281
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. XM_011513329.1XP_011511631.1  

    Conserved Domains (3) summary
    pfam08366
    Location:285397
    LLGL; LLGL2
    COG2319
    Location:109494
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:74281
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  4. XM_011513330.1XP_011511632.1  

    Conserved Domains (3) summary
    pfam08366
    Location:285397
    LLGL; LLGL2
    COG2319
    Location:109494
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:74281
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  5. XM_011513333.1XP_011511635.1  

    Conserved Domains (3) summary
    pfam08366
    Location:285397
    LLGL; LLGL2
    COG2319
    Location:109494
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:74281
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  6. XM_006713825.2XP_006713888.1  

    See identical proteins and their annotated locations for XP_006713888.1

    UniProtKB/Swiss-Prot
    Q9Y2K9
    Conserved Domains (4) summary
    pfam08366
    Location:285397
    LLGL; LLGL2
    COG2319
    Location:109494
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:74281
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cd15893
    Location:11191179
    R-SNARE_STXBP5; SNARE domain of STXBP5
  7. XM_011513328.1XP_011511630.1  

    Conserved Domains (2) summary
    pfam08366
    Location:936
    LLGL; LLGL2
    cd15893
    Location:758818
    R-SNARE_STXBP5; SNARE domain of STXBP5
  8. XM_011513332.1XP_011511634.1  

    Conserved Domains (1) summary
    cd15893
    Location:635695
    R-SNARE_STXBP5; SNARE domain of STXBP5

RNA

  1. XR_924217.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    120590662..121107318
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)