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    CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 [ Homo sapiens (human) ]

    Gene ID: 829, updated on 6-Jan-2019

    Summary

    Official Symbol
    CAPZA1provided by HGNC
    Official Full Name
    capping actin protein of muscle Z-line subunit alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:1488
    See related
    Ensembl:ENSG00000116489 MIM:601580
    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
    CAPZ; CAZ1; CAPPA1
    Summary
    CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein. The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 69.5), appendix (RPKM 61.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See CAPZA1 in Genome Data Viewer
    Location:
    1p13.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (112619453..112671619)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (113162075..113214241)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene microRNA 4256 Neighboring gene Wnt family member 2B Neighboring gene suppression of tumorigenicity 7 like Neighboring gene mitochondrial ribosomal protein L53 pseudogene 1 Neighboring gene RNA, U7 small nuclear 70 pseudogene Neighboring gene Mov10 RISC complex RNA helicase Neighboring gene ras homolog family member C Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1J

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of capping protein (actin filament) muscle Z-line, alpha 1 (CAPZA1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Advanced glycosylation endproduct receptor signaling, organism-specific biosystem (from REACTOME)
      Advanced glycosylation endproduct receptor signaling, organism-specific biosystemAdvanced Glycosylation End- product-specific Receptor (AGER) also known as Receptor for Advanced Glycation End-products (RAGE) is a multi-ligand membrane receptor belonging to the immunoglobulin supe...
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
      Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cadherin binding HDA PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    ER to Golgi vesicle-mediated transport TAS
    Traceable Author Statement
    more info
     
    actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
    Traceable Author Statement
    more info
     
    barbed-end actin filament capping IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    cell junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    innate immune response TAS
    Traceable Author Statement
    more info
     
    interleukin-12-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    F-actin capping protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    WASH complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin cortical patch IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    F-actin-capping protein subunit alpha-1
    Names
    Cap Z
    capZ alpha-1
    capping actin protein of muscle Z-line alpha subunit 1
    capping protein (actin filament) muscle Z-line, alpha 1

    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.

    mRNA and Protein(s)

    1. NM_006135.3NP_006126.1  F-actin-capping protein subunit alpha-1

      See identical proteins and their annotated locations for NP_006126.1

      Status: REVIEWED

      Source sequence(s)
      BC000144
      Consensus CDS
      CCDS30805.1
      UniProtKB/Swiss-Prot
      P52907
      UniProtKB/TrEMBL
      A0A024R0E5
      Related
      ENSP00000263168.3, ENST00000263168.3
      Conserved Domains (1) summary
      pfam01267
      Location:14282
      F-actin_cap_A; F-actin capping protein alpha subunit

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      112619453..112671619
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002424.2XP_016857913.1  F-actin-capping protein subunit alpha-1 isoform X1

    2. XM_011542225.3XP_011540527.1  F-actin-capping protein subunit alpha-1 isoform X2

      Conserved Domains (1) summary
      pfam01267
      Location:14195
      F-actin_cap_A; F-actin capping protein alpha subunit
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