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

    Gene ID: 832, updated on 14-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See CAPZB in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (19338775..19485539, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (19162310..19308992, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Systematic characterization of human testis-specific actin capping protein β3 as a possible biomarker for male infertility. Soda T, et al. Hum Reprod, 2017 Mar 1. PMID 28104696
    2. Actin cortex architecture regulates cell surface tension. Chugh P, et al. Nat Cell Biol, 2017 Jun. PMID 28530659, Free PMC Article
    3. Expression of F-actin-capping protein subunit beta, CAPZB, is associated with cell growth and motility in epithelioid sarcoma. Mukaihara K, et al. BMC Cancer, 2016 Mar 10. PMID 26965049, Free PMC Article
    4. Purification and characterization of an alpha 1 beta 2 isoform of CapZ from human erythrocytes: cytosolic location and inability to bind to Mg2+ ghosts suggest that erythrocyte actin filaments are capped by adducin. Kuhlman PA, et al. Biochemistry, 1997 Nov 4. PMID 9354614
    5. A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis. Aagaard Nolting L, et al. Clin Genet, 2020 Jun. PMID 32170730

    See all (223) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Capping protein regulates endosomal trafficking by controlling F-actin density around endocytic vesicles and recruiting RAB5 effectors.
      Title: Capping protein regulates endosomal trafficking by controlling F-actin density around endocytic vesicles and recruiting RAB5 effectors.
    2. Vacuolin-1 inhibits endosomal trafficking and metastasis via CapZbeta.
      Title: Vacuolin-1 inhibits endosomal trafficking and metastasis via CapZβ.
    3. A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis.
      Title: A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis.
    4. CAPZB controls spindle orientation independently of its classical role in the actin cytoskeleton by regulating the assembly, stability, and motor activity of the dynein/dynactin complex at the cell cortex, as well as the dynamics of mitotic microtubules.
      Title: An RNAi Screen in a Novel Model of Oriented Divisions Identifies the Actin-Capping Protein Z β as an Essential Regulator of Spindle Orientation.
    5. replication confirmed at genome-wide significance the association of loci at FOXE1 with hypothyroidism, and PDE8B, CAPZB and PDE10A with serum TSH. A total of 12 SNPs seemed to explain nearly 7% of the serum TSH variation
      Title: Replication confirms the association of loci in FOXE1, PDE8B, CAPZB and PDE10A with thyroid traits: a Genetics of Diabetes Audit and Research Tayside study (GoDARTS).
    6. At each step during spermatogenesis, the cellular localization of hCPbeta3 changed dynamically. In spermatogonia, hCPbeta3 showed a slight signal in cytoplasm. hCPbeta3 expression was conspicuous mainly from spermatocytes, and hCPbeta3 localization dynamically migrated from cytoplasm to the acrosomal cap and acrosome. In mature spermatozoa, hCPbeta3 accumulated in the postacrosomal region and less so at the midpiece of...
      Title: Systematic characterization of human testis-specific actin capping protein β3 as a possible biomarker for male infertility.
    7. A subject with micrognathia, cleft palate and hypotonia harbored a de novo, balanced chromosomal translocation that disrupts the CAPZB gene. The function of capzb was analyzed in the zebrafish model.
      Title: Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†.
    8. CAPZB is involved in tumor progression in cases of epithelioid sarcoma (EpiS), irrespective of the INI1 expression, and may be a potential therapeutic target. The paradoxical relationship between the tumor suppressor INI1 and the oncoprotein CAPZB in the pathogenesis of EpiS remains to be clarified
      Title: Expression of F-actin-capping protein subunit beta, CAPZB, is associated with cell growth and motility in epithelioid sarcoma.
    9. RAGE has a role in endothelial cell membrane repair and regulates F-actin remodeling and membrane resealing
      Title: Receptor for advanced glycation end products (RAGE) prevents endothelial cell membrane resealing and regulates F-actin remodeling in a beta-catenin-dependent manner.
    10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 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 cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lamellipodium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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 head-tail coupling apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    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)

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    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_001206540.3 → NP_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:11 → 239
      F_actin_cap_B; F-actin capping protein, beta subunit

    2. NM_001206541.3 → NP_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:37 → 244
      F_actin_cap_B; F-actin capping protein, beta subunit

    3. NM_001282162.2 → NP_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:40 → 268
      F_actin_cap_B; F-actin capping protein, beta subunit

    4. NM_001313932.2 → NP_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:6 → 110
      F_actin_cap_B; F-actin capping protein, beta subunit

    5. NM_004930.5 → NP_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:11 → 239
      F_actin_cap_B; F-actin capping protein, beta subunit

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      19338775..19485539 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      B4DWA6
      Conserved Domains (1) summary
      pfam01115
      Location:40 → 268
      F_actin_cap_B; F-actin capping protein, beta subunit

    2. XM_047431397.1 → XP_047287353.1  F-actin-capping protein subunit beta isoform X3

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

      UniProtKB/TrEMBL
      B2R7T8
      Conserved Domains (1) summary
      pfam01115
      Location:38 → 266
      F_actin_cap_B; F-actin capping protein, beta subunit

    4. XM_047431400.1 → XP_047287356.1  F-actin-capping protein subunit beta isoform X4

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

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

    7. XM_017002430.3 → XP_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_054338952.1 → XP_054194927.1  F-actin-capping protein subunit beta isoform X1

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

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

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

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

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

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

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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P47756.5 GenPept UniProtKB/Swiss-Prot:P47756

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