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

Gene ID: 832, updated on 8-Aug-2021

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
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
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Genomic context

See CAPZB in Genome Data Viewer
Location:
1p36.13
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (19338775..19485539, complement)
105.20201022 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 RNA, U6 small nuclear 1099, pseudogene Neighboring gene aldo-keto reductase family 7 member A2 Neighboring gene solute carrier family 66 member 1 Neighboring gene RNA, 7SL, cytoplasmic 277, pseudogene Neighboring gene Sharpr-MPRA regulatory region 3035 Neighboring gene uncharacterized LOC105376819 Neighboring gene uncharacterized LOC105376818 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

Associated conditions

Description Tests
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
GeneReviews: Not available
Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci.
GeneReviews: Not available
Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.
GeneReviews: Not available
Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.
GeneReviews: Not available
Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function.
GeneReviews: Not available

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

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 actin filament binding IBA
Inferred from Biological aspect of Ancestor
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 barbed-end actin filament capping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
Component Evidence Code Pubs
part_of F-actin capping protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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/Swiss-Prot
    P47756
    UniProtKB/TrEMBL
    Q7L4N0
    Related
    ENSP00000364284.1, ENST00000375142.5
    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
    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/Swiss-Prot
    P47756
    UniProtKB/TrEMBL
    B1AK88, B4DWA6, Q7L4N0
    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
    UniProtKB/TrEMBL
    Q7L4N0
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024450096.1XP_024305864.1  F-actin-capping protein subunit beta isoform X5

    Conserved Domains (1) summary
    pfam01115
    Location:1152
    F_actin_cap_B; F-actin capping protein, beta subunit
  2. XM_024450097.1XP_024305865.1  F-actin-capping protein subunit beta isoform X5

    Conserved Domains (1) summary
    pfam01115
    Location:1152
    F_actin_cap_B; F-actin capping protein, beta subunit
  3. XM_011542228.3XP_011540530.1  F-actin-capping protein subunit beta isoform X1

    Conserved Domains (1) summary
    pfam01115
    Location:40268
    F_actin_cap_B; F-actin capping protein, beta subunit
  4. XM_017002428.2XP_016857917.1  F-actin-capping protein subunit beta isoform X3

    Conserved Domains (1) summary
    pfam01115
    Location:1227
    F_actin_cap_B; F-actin capping protein, beta subunit
  5. XM_006710938.4XP_006711001.1  F-actin-capping protein subunit beta isoform X2

    Conserved Domains (1) summary
    pfam01115
    Location:38266
    F_actin_cap_B; F-actin capping protein, beta subunit
  6. XM_011542229.3XP_011540531.1  F-actin-capping protein subunit beta isoform X4

    See identical proteins and their annotated locations for XP_011540531.1

    Conserved Domains (1) summary
    pfam01115
    Location:1152
    F_actin_cap_B; F-actin capping protein, beta subunit
  7. XM_011542230.3XP_011540532.1  F-actin-capping protein subunit beta isoform X4

    See identical proteins and their annotated locations for XP_011540532.1

    Conserved Domains (1) summary
    pfam01115
    Location:1152
    F_actin_cap_B; F-actin capping protein, beta subunit
  8. XM_017002429.2XP_016857918.1  F-actin-capping protein subunit beta isoform X6

  9. XM_017002430.2XP_016857919.1  F-actin-capping protein subunit beta isoform X7

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