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

    Gene ID: 829, updated on 11-Apr-2024

    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; AllianceGenome:HGNC:1488
    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
    NEW
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    Genomic context

    Location:
    1p13.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (112619832..112671616)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (112632399..112684197)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (113162454..113214238)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1513 Neighboring gene MPRA-validated peak369 silencer Neighboring gene microRNA 4256 Neighboring gene Wnt family member 2B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:113050855-113051398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1200 Neighboring gene Sharpr-MPRA regulatory region 8072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:113052323-113052822 Neighboring gene suppression of tumorigenicity 7 like Neighboring gene MPRA-validated peak370 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:113161935-113163134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:113180612-113181112 Neighboring gene mitochondrial ribosomal protein L53 pseudogene 1 Neighboring gene RNA, U7 small nuclear 70 pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:113234976-113235476 Neighboring gene Mov10 RNA helicase Neighboring gene Sharpr-MPRA regulatory region 4682 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:113242906-113243833 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:113246858-113247412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1203 Neighboring gene ras homolog family member C

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cadherin binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in barbed-end actin filament capping IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of F-actin capping protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of WASH complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in cortical cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in 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)

    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_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, Q53FQ6, Q6FHD5
      UniProtKB/TrEMBL
      A8K0T9
      Related
      ENSP00000263168.3, ENST00000263168.4
      Conserved Domains (1) summary
      pfam01267
      Location:14282
      F-actin_cap_A; F-actin capping protein alpha subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      112619832..112671616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002424.3XP_016857913.1  F-actin-capping protein subunit alpha-1 isoform X1

      UniProtKB/TrEMBL
      A8K0T9
    2. XM_011542225.4XP_011540527.1  F-actin-capping protein subunit alpha-1 isoform X2

      Related
      ENST00000498626.1
      Conserved Domains (1) summary
      pfam01267
      Location:14195
      F-actin_cap_A; F-actin capping protein alpha subunit

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      112632399..112684197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338936.1XP_054194911.1  F-actin-capping protein subunit alpha-1 isoform X1

    2. XM_054338937.1XP_054194912.1  F-actin-capping protein subunit alpha-1 isoform X2