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

Gene ID: 9515, updated on 13-Mar-2020

Summary

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
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
LLGL4
Summary
The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017]
Expression
Biased expression in brain (RPKM 4.6), thyroid (RPKM 3.2) and 5 other tissues See more
Orthologs

Genomic context

See STXBP5L in Genome Data Viewer
Location:
3q13.33
Exon count:
35
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (120908205..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 long intergenic non-protein coding RNA 2049 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 DNA polymerase theta Neighboring gene Sharpr-MPRA regulatory region 30 Neighboring gene ribosomal protein L7a pseudogene 11

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
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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
myosin II binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
syntaxin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of protein secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of synaptic vesicle exocytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
SNARE complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
neuronal dense core vesicle IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
syntaxin-binding protein 5-like
Names
lethal(2) giant larvae protein homolog 4
tomosyn-2
tomosyn-like

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.

Genomic

  1. NG_052890.1 RefSeqGene

    Range
    5003..521559
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001308330.2NP_001295259.1  syntaxin-binding protein 5-like isoform 2

    See identical proteins and their annotated locations for NP_001295259.1

    Status: REVIEWED

    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. Variants 2, 4, and 5 all encode the same isoform (2).
    Source sequence(s)
    AC078854, AC079841, AI279148, AK296544
    Consensus CDS
    CCDS77799.1
    UniProtKB/TrEMBL
    B4DKF6, E9PFI2
    Related
    ENSP00000420019.1, ENST00000471454.5
    Conserved Domains (5) summary
    COG2319
    Location:249552
    WD40; WD40 repeat [General function prediction only]
    cd15893
    Location:10951155
    R-SNARE_STXBP5; SNARE domain of STXBP5
    sd00039
    Location:74107
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:289396
    LLGL; LLGL2
    cl25539
    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 ...
  2. NM_001348343.2NP_001335272.1  syntaxin-binding protein 5-like isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (1).
    Source sequence(s)
    AC072026, AC078854, AC078857, AC079841, AC128659
    Consensus CDS
    CCDS43137.1
    UniProtKB/Swiss-Prot
    Q9Y2K9
    Related
    ENSP00000420167.1, ENST00000471262.1
    Conserved Domains (5) summary
    COG2319
    Location:249552
    WD40; WD40 repeat [General function prediction only]
    cd15893
    Location:11191179
    R-SNARE_STXBP5; SNARE domain of STXBP5
    sd00039
    Location:74107
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:289396
    LLGL; LLGL2
    cl25539
    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. NM_001348344.2NP_001335273.1  syntaxin-binding protein 5-like isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and 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. Variants 2, 4, and 5 all encode the same isoform (2).
    Source sequence(s)
    AC072026, AC078854, AC078857, AC079841, AC128659
    Consensus CDS
    CCDS77799.1
    UniProtKB/TrEMBL
    E9PFI2
    Conserved Domains (5) summary
    COG2319
    Location:249552
    WD40; WD40 repeat [General function prediction only]
    cd15893
    Location:10951155
    R-SNARE_STXBP5; SNARE domain of STXBP5
    sd00039
    Location:74107
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:289396
    LLGL; LLGL2
    cl25539
    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. NM_001348345.2NP_001335274.1  syntaxin-binding protein 5-like isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and 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. Variants 2, 4, and 5 all encode the same isoform (2).
    Source sequence(s)
    AC072026, AC078854, AC078857, AC079841, AC128659
    Consensus CDS
    CCDS77799.1
    UniProtKB/TrEMBL
    E9PFI2
    Conserved Domains (5) summary
    COG2319
    Location:249552
    WD40; WD40 repeat [General function prediction only]
    cd15893
    Location:10951155
    R-SNARE_STXBP5; SNARE domain of STXBP5
    sd00039
    Location:74107
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:289396
    LLGL; LLGL2
    cl25539
    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. NM_014980.3NP_055795.1  syntaxin-binding protein 5-like isoform 1

    See identical proteins and their annotated locations for NP_055795.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 3 both encode the same isoform (1).
    Source sequence(s)
    AB023223, AC079841, AI279148, DC324331
    Consensus CDS
    CCDS43137.1
    UniProtKB/Swiss-Prot
    Q9Y2K9
    Related
    ENSP00000273666.6, ENST00000273666.10
    Conserved Domains (5) summary
    COG2319
    Location:249552
    WD40; WD40 repeat [General function prediction only]
    cd15893
    Location:11191179
    R-SNARE_STXBP5; SNARE domain of STXBP5
    sd00039
    Location:74107
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:289396
    LLGL; LLGL2
    cl25539
    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 ...

RNA

  1. NR_145516.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC072026, AC078854, AC078857, AC079841, AC128659
  2. NR_145517.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) is shorter at the 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC072026, AC078857, AC128659
    Related
    ENST00000461772.5

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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    120908205..121424761
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007534.1XP_016863023.1  syntaxin-binding protein 5-like isoform X3

  2. XM_011513331.2XP_011511633.1  syntaxin-binding protein 5-like isoform X4

    Conserved Domains (4) summary
    COG2319
    Location:109494
    WD40; WD40 repeat [General function prediction only]
    pfam08366
    Location:289396
    LLGL; LLGL2
    sd00039
    Location:74107
    7WD40; WD40 repeat [structural motif]
    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_011513333.3XP_011511635.1  syntaxin-binding protein 5-like isoform X6

    Conserved Domains (4) summary
    COG2319
    Location:109494
    WD40; WD40 repeat [General function prediction only]
    pfam08366
    Location:289396
    LLGL; LLGL2
    sd00039
    Location:74107
    7WD40; WD40 repeat [structural motif]
    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_024453832.1XP_024309600.1  syntaxin-binding protein 5-like isoform X2

    Conserved Domains (4) summary
    COG2319
    Location:26258
    WD40; WD40 repeat [General function prediction only]
    cd15893
    Location:932992
    R-SNARE_STXBP5; SNARE domain of STXBP5
    sd00039
    Location:6692
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:102209
    LLGL; LLGL2
  5. XM_017007535.2XP_016863024.1  syntaxin-binding protein 5-like isoform X6

    Conserved Domains (4) summary
    COG2319
    Location:109494
    WD40; WD40 repeat [General function prediction only]
    pfam08366
    Location:289396
    LLGL; LLGL2
    sd00039
    Location:74107
    7WD40; WD40 repeat [structural motif]
    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_006713825.3XP_006713888.1  syntaxin-binding protein 5-like isoform X1

    See identical proteins and their annotated locations for XP_006713888.1

    UniProtKB/Swiss-Prot
    Q9Y2K9
    Conserved Domains (5) summary
    COG2319
    Location:249552
    WD40; WD40 repeat [General function prediction only]
    cd15893
    Location:11191179
    R-SNARE_STXBP5; SNARE domain of STXBP5
    sd00039
    Location:74107
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:289396
    LLGL; LLGL2
    cl25539
    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 ...
  7. XM_011513332.2XP_011511634.1  syntaxin-binding protein 5-like isoform X5

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

RNA

  1. XR_924217.2 RNA Sequence

  2. XR_001740373.1 RNA Sequence

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