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

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Vacuolin-1 inhibits endosomal trafficking and metastasis via CapZbeta.
Title: Vacuolin-1 inhibits endosomal trafficking and metastasis via CapZβ.
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.
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.
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).
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.
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†.
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.
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.
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.

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-147427 (e-PCR)
- UniSTS:172804

SHGC-148894 (e-PCR)
- UniSTS:173066

SHGC-175 (e-PCR)
- UniSTS:25620

SHGC-107611 (e-PCR)
- UniSTS:173845

D10S275 (e-PCR)
- UniSTS:147992

SHGC-155098 (e-PCR)
- UniSTS:182056

NoName (e-PCR)
- UniSTS:483898

AL033889 (e-PCR)
- UniSTS:93765

G35510 (e-PCR)
- UniSTS:44150

SHGC-74331 (e-PCR)
- UniSTS:15746

AL009488 (e-PCR)
- UniSTS:73612

D1S1674 (e-PCR)
- UniSTS:40335

RH103414 (e-PCR)
- UniSTS:97739

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 more info	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 more info	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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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

NG_029551.2 RefSeqGene

Range

5034..151798

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

19338775..19485539 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B2R7T8
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
XM_047431400.1 → XP_047287356.1 F-actin-capping protein subunit beta isoform X4

UniProtKB/TrEMBL

B2R7T8
XM_047431404.1 → XP_047287360.1 F-actin-capping protein subunit beta isoform X4

UniProtKB/TrEMBL

B2R7T8
XM_017002429.3 → XP_016857918.1 F-actin-capping protein subunit beta isoform X5
XM_017002430.3 → XP_016857919.1 F-actin-capping protein subunit beta isoform X6

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

19162310..19308992 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B4DWA6
XM_054338954.1 → XP_054194929.1 F-actin-capping protein subunit beta isoform X3

UniProtKB/TrEMBL

B2R7T8
XM_054338953.1 → XP_054194928.1 F-actin-capping protein subunit beta isoform X2

UniProtKB/TrEMBL

B2R7T8
XM_054338955.1 → XP_054194930.1 F-actin-capping protein subunit beta isoform X4

UniProtKB/TrEMBL

B2R7T8
XM_054338956.1 → XP_054194931.1 F-actin-capping protein subunit beta isoform X4

UniProtKB/TrEMBL

B2R7T8
XM_054338957.1 → XP_054194932.1 F-actin-capping protein subunit beta isoform X7
XM_054338958.1 → XP_054194933.1 F-actin-capping protein subunit beta isoform X5
XM_054338959.1 → XP_054194934.1 F-actin-capping protein subunit beta isoform X6