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

Gene ID: 832, updated on 6-Jan-2019

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

Genomic context

See CAPZB in Genome Data Viewer
Location:
1p36.13
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (19338773..19485641, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (19665267..19812066, 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 PQ loop repeat containing 2 Neighboring gene RNA, 7SL, cytoplasmic 277, pseudogene 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
NHGRI GWA Catalog
Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci.
NHGRI GWA Catalog
Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.
NHGRI GWA Catalog
Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.
NHGRI GWA Catalog
Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function.
NHGRI GWA 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 BioSystems

  • 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...

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
actin binding IDA
Inferred from Direct Assay
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 IEA
Inferred from Electronic Annotation
more info
 
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 morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of filopodium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of lamellipodium assembly IBA
Inferred from Biological aspect of Ancestor
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 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 
sarcomere 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)

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
    4932..151800
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001206540.2NP_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_001206541.2NP_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_001282162.1NP_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_001313932.1NP_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:11110
    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, ENST00000264202.7
    Conserved Domains (1) summary
    pfam01115
    Location:11239
    F_actin_cap_B; F-actin capping protein, beta 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
    19338773..19485641 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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