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

    Gene ID: 252983, updated on 27-Nov-2024

    Summary

    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; AllianceGenome:HGNC:19694
    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
    Summary
    Enables syntaxin binding activity. Involved in several processes, including positive regulation of cell cycle G1/S phase transition; positive regulation of keratinocyte proliferation; and protein stabilization. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 1.4), thyroid (RPKM 1.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See STXBP4 in Genome Data Viewer
    Location:
    17q22
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (54968765..55213273)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (55843691..56088281)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (53046126..53250993)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904033 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12406 Neighboring gene uncharacterized LOC124904032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12407 Neighboring gene target of myb1 like 1 membrane trafficking protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:53045085-53046034 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:53046035-53046983 Neighboring gene cytochrome c oxidase copper chaperone COX11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12412 Neighboring gene MPRA-validated peak2901 silencer Neighboring gene uncharacterized LOC107985002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8731 Neighboring gene VISTA enhancer hs2291 Neighboring gene Sharpr-MPRA regulatory regions 2486 and 1497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:53398039-53398539 Neighboring gene Sharpr-MPRA regulatory region 10605 Neighboring gene HLF transcription factor, PAR bZIP family member Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8733 Neighboring gene monocyte to macrophage differentiation associated

    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

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ16496, MGC50337, MGC149829

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables syntaxin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables syntaxin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in phagocytic vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    syntaxin-binding protein 4
    Names
    STX4-interacting protein
    syntaxin 4 interacting protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001398481.1NP_001385410.1  syntaxin-binding protein 4 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC005177, AC007485
      Conserved Domains (3) summary
      COG1196
      Location:298463
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      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
    2. NM_001398482.1NP_001385411.1  syntaxin-binding protein 4 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC007485
      Consensus CDS
      CCDS92360.1
      UniProtKB/TrEMBL
      B5MCT9
      Related
      ENSP00000385944.1, ENST00000405898.5
      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) ...
    3. NM_001398483.1NP_001385412.1  syntaxin-binding protein 4 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC007485
      Conserved Domains (2) summary
      COG1196
      Location:296461
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      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) ...
    4. NM_178509.6NP_848604.3  syntaxin-binding protein 4 isoform 1

      See identical proteins and their annotated locations for NP_848604.3

      Status: VALIDATED

      Source sequence(s)
      AC005177, AK122865, AK123793, BC041485, CA848494
      Consensus CDS
      CCDS11584.2
      UniProtKB/Swiss-Prot
      Q6ZWJ1, Q8IVZ5
      UniProtKB/TrEMBL
      E7EPP7
      Related
      ENSP00000365530.2, ENST00000376352.6
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      54968765..55213273
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435714.1XP_047291670.1  syntaxin-binding protein 4 isoform X4

    2. XM_017024410.2XP_016879899.1  syntaxin-binding protein 4 isoform X1

      UniProtKB/TrEMBL
      E7EPP7
    3. XM_017024411.3XP_016879900.1  syntaxin-binding protein 4 isoform X2

      UniProtKB/TrEMBL
      E7EPP7
    4. XM_047435716.1XP_047291672.1  syntaxin-binding protein 4 isoform X6

    5. XM_047435715.1XP_047291671.1  syntaxin-binding protein 4 isoform X5

    6. XM_047435717.1XP_047291673.1  syntaxin-binding protein 4 isoform X7

    7. XM_047435713.1XP_047291669.1  syntaxin-binding protein 4 isoform X3

    8. XM_017024414.3XP_016879903.1  syntaxin-binding protein 4 isoform X9

    9. XM_006721797.5XP_006721860.1  syntaxin-binding protein 4 isoform X10

      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) ...
    10. XM_017024413.2XP_016879902.1  syntaxin-binding protein 4 isoform X8

      UniProtKB/TrEMBL
      E7EPP7

    RNA

    1. XR_007065289.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      55843691..56088281
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315640.1XP_054171615.1  syntaxin-binding protein 4 isoform X4

    2. XM_054315637.1XP_054171612.1  syntaxin-binding protein 4 isoform X1

    3. XM_054315638.1XP_054171613.1  syntaxin-binding protein 4 isoform X2

    4. XM_054315641.1XP_054171616.1  syntaxin-binding protein 4 isoform X6

    5. XM_054315639.1XP_054171614.1  syntaxin-binding protein 4 isoform X3

    6. XM_054315643.1XP_054171618.1  syntaxin-binding protein 4 isoform X10

    7. XM_054315642.1XP_054171617.1  syntaxin-binding protein 4 isoform X8

    RNA

    1. XR_008484801.1 RNA Sequence

    2. XR_008484802.1 RNA Sequence