CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CAPZA1provided by HGNC
Official Full Name: capping actin protein of muscle Z-line subunit alpha 1provided by HGNC
Primary source: HGNC:HGNC:1488
See related: Ensembl:ENSG00000116489 MIM:601580; AllianceGenome:HGNC:1488
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: CAPZ; CAZ1; CAPPA1
Summary: CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein. The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in lymph node (RPKM 69.5), appendix (RPKM 61.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p13.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (112619832..112671616)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (112632399..112684197)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (113162454..113214238)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exosome-Delivered circSTAU2 Inhibits the Progression of Gastric Cancer by Targeting the miR-589/CAPZA1 Axis.
Title: Exosome-Delivered circSTAU2 Inhibits the Progression of Gastric Cancer by Targeting the miR-589/CAPZA1 Axis.
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.
A barbed end interference mechanism reveals how capping protein promotes nucleation in branched actin networks.
Title: A barbed end interference mechanism reveals how capping protein promotes nucleation in branched actin networks.
in CAPZA1-overexpressing gastric epithelial cells infected with H. pylori, autolysosome formation is inhibited and CagA escapes autophagic degradation.
Title: CAPZA1 determines the risk of gastric carcinogenesis by inhibiting Helicobacter pylori CagA-degraded autophagy.
Data show that CAPZA1 inhibits EMT in hepatocellular carcinoma (HCC cells by regulating actin cytoskeleton remodeling, thereby reducing the metastatic ability of the cells.
Title: CAPZA1 modulates EMT by regulating actin cytoskeleton remodelling in hepatocellular carcinoma.
Disease causing mutations in inverted formin 2 regulate its binding to G-actin, F-actin capping protein (CapZ alpha-1) and profilin 2.
Title: Disease causing mutations in inverted formin 2 regulate its binding to G-actin, F-actin capping protein (CapZ α-1) and profilin 2.
mDia1 displaced from the barbed end by CapZ Actin Capping Protein can randomly slide along the actin filament and later return.
Title: Single-molecule visualization of a formin-capping protein 'decision complex' at the actin filament barbed end.
The present study suggests that CAPZA1 could be a marker of good prognosis in gastric cancer and shows that CAPZA1 is associated with decreased cancer cell migration and invasion.
Title: Prognostic value of CAPZA1 overexpression in gastric cancer.
CAPAZA1 is over expressed in malignant melanoma.
Title: Differential expression patterns of capping protein, protein phosphatase 1, and casein kinase 1 may serve as diagnostic markers for malignant melanoma.
Damaging exercise induced the expression of capZalpha, MCIP1, CARP1, DNAJB2, c-myc, and junD, each of which are likely involved in skeletal muscle growth, remodeling, and stress management.
Title: Gene expression profiling in human skeletal muscle during recovery from eccentric exercise.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. 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
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of capping protein (actin filament) muscle Z-line, alpha 1 (CAPZA1) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed

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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

D1S487 (e-PCR)
- UniSTS:22330

D1S487 (e-PCR)
- UniSTS:23210

SHGC-75335 (e-PCR)
- UniSTS:45277

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	TAS Traceable Author Statement more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
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 cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in barbed-end actin filament capping	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein-containing complex assembly	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of F-actin capping protein complex	IBA Inferred from Biological aspect of Ancestor 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
is_active_in cortical cytoskeleton	IBA Inferred from Biological aspect of Ancestor 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 extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: F-actin-capping protein subunit alpha-1

Names: Cap Z; capZ alpha-1; capping actin protein of muscle Z-line alpha subunit 1; capping protein (actin filament) muscle Z-line, alpha 1

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.

mRNA and Protein(s)

NM_006135.3 → NP_006126.1 F-actin-capping protein subunit alpha-1

See identical proteins and their annotated locations for NP_006126.1

Status: REVIEWED

Source sequence(s)

BC000144

Consensus CDS

CCDS30805.1

UniProtKB/Swiss-Prot

P52907, Q53FQ6, Q6FHD5

UniProtKB/TrEMBL

A8K0T9

Related

ENSP00000263168.3, ENST00000263168.4

Conserved Domains (1) summary

pfam01267
Location:14 → 282

F-actin_cap_A; F-actin capping protein alpha 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

112619832..112671616

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017002424.3 → XP_016857913.1 F-actin-capping protein subunit alpha-1 isoform X1

UniProtKB/TrEMBL

A8K0T9
XM_011542225.4 → XP_011540527.1 F-actin-capping protein subunit alpha-1 isoform X2

Related

ENST00000498626.1

Conserved Domains (1) summary

pfam01267
Location:14 → 195

F-actin_cap_A; F-actin capping protein alpha subunit

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

112632399..112684197

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054338936.1 → XP_054194911.1 F-actin-capping protein subunit alpha-1 isoform X1
XM_054338937.1 → XP_054194912.1 F-actin-capping protein subunit alpha-1 isoform X2