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    CAPZB capping actin protein of muscle Z-line subunit beta [ Homo sapiens (human) ]

    Gene ID: 832, updated on 7-Apr-2024

    Summary

    Official Symbol
    CAPZBprovided by HGNC
    Official Full Name
    capping actin protein of muscle Z-line subunit betaprovided by HGNC
    Primary source
    HGNC:HGNC:1491
    See related
    Ensembl:ENSG00000077549 MIM:601572; AllianceGenome:HGNC:1491
    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
    CAPB; CAPZ; CAPPB
    Summary
    This gene encodes the beta subunit of the barbed-end actin binding protein, which belongs to the F-actin capping protein family. The capping protein is a heterodimeric actin capping protein that blocks actin filament assembly and disassembly at the fast growing (barbed) filament ends and functions in regulating actin filament dynamics as well as in stabilizing actin filament lengths in muscle and nonmuscle cells. A pseudogene of this gene is located on the long arm of chromosome 2. Multiple alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, Aug 2013]
    Expression
    Ubiquitous expression in appendix (RPKM 43.9), lymph node (RPKM 41.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    1p36.13
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (19338775..19485539, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (19162310..19308992, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (19665269..19812033, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903867 Neighboring gene RNA, U6 small nuclear 1099, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19638229-19638728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 353 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19641943-19642442 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:19644916-19645106 Neighboring gene aldo-keto reductase family 7 member A2 Neighboring gene solute carrier family 66 member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19661163-19661664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19661665-19662164 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19663848-19664812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19665979-19666480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19667246-19668220 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 299 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19679737-19680421 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19682496-19682996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19682997-19683497 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19685462-19685962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19696541-19697233 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 301 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:19727675-19728354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19729033-19729710 Neighboring gene uncharacterized LOC124903868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19745938-19746438 Neighboring gene Sharpr-MPRA regulatory region 10658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19756871-19757759 Neighboring gene RNA, 7SL, cytoplasmic 277, pseudogene Neighboring gene uncharacterized LOC124903869 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19773737-19774404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 303 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19787402-19787902 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19787903-19788403 Neighboring gene Sharpr-MPRA regulatory region 3035 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19795542-19796332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19796333-19797122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 304 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19808059-19808744 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19810310-19810818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19810819-19811326 Neighboring gene uncharacterized LOC105376819 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19811327-19811835 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19813869-19814376 Neighboring gene uncharacterized LOC105376818 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:19837198-19837359 Neighboring gene uncharacterized LOC105376817 Neighboring gene RNA, U4 small nuclear 28, pseudogene

    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
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    EBI GWAS Catalog
    Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.
    EBI GWAS Catalog
    Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.
    EBI GWAS Catalog
    Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Actin filament capping protein subunit beta (CAPZB) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS 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

    • FLJ12274, FLJ44693, MGC104401, MGC129749, MGC129750, DKFZp686K0524

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IDA
    Inferred from Direct Assay
    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 polymerization or depolymerization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in barbed-end actin filament capping IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lamellipodium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of filopodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of lamellipodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of F-actin capping protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    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 
    located_in brush border IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cortical cytoskeleton IEA
    Inferred from Electronic Annotation
    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 hippocampal mossy fiber to CA3 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lamellipodium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     
    located_in sarcomere IEA
    Inferred from Electronic Annotation
    more info
     
    located_in sperm connecting piece IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    F-actin-capping protein subunit beta
    Names
    capZ beta
    capping actin protein of muscle Z-line beta subunit
    capping protein (actin filament) muscle Z-line, beta
    epididymis secretory sperm binding 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.

    Genomic

    1. NG_029551.2 RefSeqGene

      Range
      5034..151798
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001206540.3NP_001193469.1  F-actin-capping protein subunit beta isoform 2

      See identical proteins and their annotated locations for NP_001193469.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional exon in the 3' region, and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AI799520, BC008095, BQ773230, CB267021, HY021163
      Consensus CDS
      CCDS55579.1
      UniProtKB/TrEMBL
      B2R7T8
      Related
      ENSP00000364284.1, ENST00000375142.6
      Conserved Domains (1) summary
      pfam01115
      Location:11239
      F_actin_cap_B; F-actin capping protein, beta subunit
    2. NM_001206541.3NP_001193470.1  F-actin-capping protein subunit beta isoform 3

      See identical proteins and their annotated locations for NP_001193470.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in both UTR's and has multiple differences in the coding region, compared to variant 1. The encoded protein (isoform 3) has distinct N- and C-termini and is shorter compared to isoform 1.
      Source sequence(s)
      AK125085, BQ773230, HY021163
      Consensus CDS
      CCDS72717.1
      UniProtKB/TrEMBL
      B1AK85, B1AK87
      Related
      ENSP00000264203.3, ENST00000264203.7
      Conserved Domains (1) summary
      pfam01115
      Location:37244
      F_actin_cap_B; F-actin capping protein, beta subunit
    3. NM_001282162.2NP_001269091.1  F-actin-capping protein subunit beta isoform 4

      See identical proteins and their annotated locations for NP_001269091.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate 5' terminal exon, and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at an alternate AUG and result in an isoform (4) with a longer and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK301442, BC008095, BC107752, BQ773230
      Consensus CDS
      CCDS72718.1
      UniProtKB/TrEMBL
      B1AK88, B4DWA6
      Related
      ENSP00000401010.1, ENST00000433834.5
      Conserved Domains (1) summary
      pfam01115
      Location:40268
      F_actin_cap_B; F-actin capping protein, beta subunit
    4. NM_001313932.2NP_001300861.1  F-actin-capping protein subunit beta isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks several exons in the 3' coding region and includes an alternate 3' terminal exon compared to variant 1. It encodes isoform 5, which is shorter than and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL445163, CB993069, HY021163
      Conserved Domains (1) summary
      pfam01115
      Location:6110
      F_actin_cap_B; F-actin capping protein, beta subunit
    5. NM_004930.5NP_004921.1  F-actin-capping protein subunit beta isoform 1

      See identical proteins and their annotated locations for NP_004921.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      BC008095, BC107752, BQ773230, HY021163
      Consensus CDS
      CCDS41277.1
      UniProtKB/Swiss-Prot
      P47756, Q32Q68, Q5U0L4, Q8TB49, Q9NUC4
      UniProtKB/TrEMBL
      A0A384MR50, B2R7T8
      Related
      ENSP00000264202.7, ENST00000264202.8
      Conserved Domains (1) summary
      pfam01115
      Location:11239
      F_actin_cap_B; F-actin capping protein, beta 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
      19338775..19485539 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542228.4XP_011540530.1  F-actin-capping protein subunit beta isoform X1

      UniProtKB/TrEMBL
      B4DWA6
      Conserved Domains (1) summary
      pfam01115
      Location:40268
      F_actin_cap_B; F-actin capping protein, beta subunit
    2. XM_047431397.1XP_047287353.1  F-actin-capping protein subunit beta isoform X3

    3. XM_006710938.5XP_006711001.1  F-actin-capping protein subunit beta isoform X2

      UniProtKB/TrEMBL
      B2R7T8
      Conserved Domains (1) summary
      pfam01115
      Location:38266
      F_actin_cap_B; F-actin capping protein, beta subunit
    4. XM_047431400.1XP_047287356.1  F-actin-capping protein subunit beta isoform X4

    5. XM_047431404.1XP_047287360.1  F-actin-capping protein subunit beta isoform X4

    6. XM_017002429.3XP_016857918.1  F-actin-capping protein subunit beta isoform X5

    7. XM_017002430.3XP_016857919.1  F-actin-capping protein subunit beta isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      19162310..19308992 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338952.1XP_054194927.1  F-actin-capping protein subunit beta isoform X1

    2. XM_054338954.1XP_054194929.1  F-actin-capping protein subunit beta isoform X3

    3. XM_054338953.1XP_054194928.1  F-actin-capping protein subunit beta isoform X2

    4. XM_054338955.1XP_054194930.1  F-actin-capping protein subunit beta isoform X4

    5. XM_054338956.1XP_054194931.1  F-actin-capping protein subunit beta isoform X4

    6. XM_054338957.1XP_054194932.1  F-actin-capping protein subunit beta isoform X7

    7. XM_054338958.1XP_054194933.1  F-actin-capping protein subunit beta isoform X5

    8. XM_054338959.1XP_054194934.1  F-actin-capping protein subunit beta isoform X6