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    STXBP4 syntaxin binding protein 4 [ Homo sapiens (human) ]

    Gene ID: 252983, updated on 5-Nov-2017
    Official Symbol
    STXBP4provided by HGNC
    Official Full Name
    syntaxin binding protein 4provided by HGNC
    Primary source
    HGNC:HGNC:19694
    See related
    Ensembl:ENSG00000166263 MIM:610415; Vega:OTTHUMG00000074043
    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
    Synip
    Expression
    Ubiquitous expression in kidney (RPKM 1.4), thyroid (RPKM 1.4) and 25 other tissues See more
    Orthologs
    Location:
    17q22
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (54968728..55164285)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (53046119..53241646)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SK small nuclear pseudogene 14 Neighboring gene target of myb1 like 1 membrane trafficking protein Neighboring gene COX11, cytochrome c oxidase copper chaperone Neighboring gene uncharacterized LOC107985002 Neighboring gene HLF, PAR bZIP transcription factor Neighboring gene monocyte to macrophage differentiation associated

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    NHGRI GWA Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Genome-wide shRNA screening identifies STXBP4, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ16496, MGC50337, MGC149829

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    syntaxin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glucose transport IEA
    Inferred from Electronic Annotation
    more info
     
    insulin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell cycle G1/S phase transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of keratinocyte proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein targeting IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of insulin secretion involved in cellular response to glucose stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    syntaxin-binding protein 4
    Names
    STX4-interacting protein
    syntaxin 4 interacting protein

    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_178509.5NP_848604.3  syntaxin-binding protein 4

      See identical proteins and their annotated locations for NP_848604.3

      Status: VALIDATED

      Source sequence(s)
      AK122865, AK123793, BC041485, CA848494
      Consensus CDS
      CCDS11584.2
      UniProtKB/Swiss-Prot
      Q6ZWJ1
      Related
      ENSP00000365530.2, OTTHUMP00000082667, ENST00000376352.6, OTTHUMT00000157184
      Conserved Domains (4) summary
      cd00992
      Location:2298
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00397
      Location:498527
      WW; WW domain
      pfam06050
      Location:304411
      HGD-D; 2-hydroxyglutaryl-CoA dehydratase, D-component
      pfam08467
      Location:189341
      Luteo_P1-P2; Luteovirus RNA polymerase P1-P2/replicase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      54968728..55164285
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024410.1XP_016879899.1  syntaxin-binding protein 4 isoform X1

    2. XM_005257187.4XP_005257244.1  syntaxin-binding protein 4 isoform X3

      Conserved Domains (4) summary
      cd00992
      Location:22100
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00397
      Location:500529
      WW; WW domain
      pfam06050
      Location:306413
      HGD-D; 2-hydroxyglutaryl-CoA dehydratase, D-component
      pfam08467
      Location:191343
      Luteo_P1-P2; Luteovirus RNA polymerase P1-P2/replicase
    3. XM_017024415.1XP_016879904.1  syntaxin-binding protein 4 isoform X6

    4. XM_017024414.1XP_016879903.1  syntaxin-binding protein 4 isoform X6

    5. XM_017024411.1XP_016879900.1  syntaxin-binding protein 4 isoform X2

    6. XM_017024412.1XP_016879901.1  syntaxin-binding protein 4 isoform X4

    7. XM_006721797.3XP_006721860.1  syntaxin-binding protein 4 isoform X7

      Conserved Domains (1) summary
      cd00992
      Location:22100
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    8. XM_006721798.3XP_006721861.1  syntaxin-binding protein 4 isoform X8

      UniProtKB/TrEMBL
      B5MCT9
      Related
      ENSP00000385944.1, OTTHUMP00000198125, ENST00000405898.5, OTTHUMT00000157190
      Conserved Domains (1) summary
      cd00992
      Location:2298
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    9. XM_017024413.1XP_016879902.1  syntaxin-binding protein 4 isoform X5

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      53111024..53306373
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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