Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CAPZA1 Gene

Aliases for CAPZA1 Gene

  • Capping Actin Protein Of Muscle Z-Line Alpha Subunit 1 2 3 5
  • Capping Protein (Actin Filament) Muscle Z-Line, Alpha 1 2 3
  • CapZ Alpha-1 3 4
  • F-Actin-Capping Protein Subunit Alpha-1 3
  • CAPPA1 3
  • Cap Z 3
  • CAPZ 3
  • CAZ1 3

External Ids for CAPZA1 Gene

Previous GeneCards Identifiers for CAPZA1 Gene

  • GC01P113584
  • GC01P112047
  • GC01P112263
  • GC01P112461
  • GC01P112873
  • GC01P112963
  • GC01P113161
  • GC01P111020

Summaries for CAPZA1 Gene

Entrez Gene Summary for CAPZA1 Gene

  • 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]

GeneCards Summary for CAPZA1 Gene

CAPZA1 (Capping Actin Protein Of Muscle Z-Line Alpha Subunit 1) is a Protein Coding gene. Diseases associated with CAPZA1 include Autosomal Recessive Primary Microcephaly. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Innate Immune System. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is CAPZA2.

UniProtKB/Swiss-Prot for CAPZA1 Gene

  • F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. May play a role in the formation of epithelial cell junctions.

Gene Wiki entry for CAPZA1 Gene

Additional gene information for CAPZA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAPZA1 Gene

Genomics for CAPZA1 Gene

GeneHancer (GH) Regulatory Elements for CAPZA1 Gene

Promoters and enhancers for CAPZA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I112617 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 566.4 +1.1 1140 6.2 HDGF PKNOX1 CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ST7L CAPZA1 LOC100421402 LRIG2 DDX20 LOC100996251 MOV10 ENSG00000225075 RHOC PPM1J
GH01I112953 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 19.3 +336.8 336835 4.8 MLX DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D SLC16A1 SLC16A1-AS1 LOC100421402 RSBN1 LRIG2 CAPZA1 ST7L AKR7A2P1
GH01I112696 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 15.4 +83.3 83280 11.2 CLOCK MLX DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 MEF2D RHOC PIR38214 PIR32287 ST7L LOC100421402 LRIG2 CAPZA1 DDX20 WNT2B GC01M112698
GH01I111754 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.8 -863.4 -863372 2.7 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 MEF2D DDX20 LOC101928718 FAM212B ST7L DRAM2 DENND2D CAPZA1 CEPT1 FAM212B-AS1
GH01I112671 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 7.2 +54.8 54848 4.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A YY1 POLR2B E2F8 ZNF207 MOV10 ST7L LRIG2 CAPZA1 GC01P112680
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CAPZA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CAPZA1 gene promoter:

Genomic Locations for CAPZA1 Gene

Genomic Locations for CAPZA1 Gene
chr1:112,619,173-112,671,619
(GRCh38/hg38)
Size:
52,447 bases
Orientation:
Plus strand
chr1:113,161,795-113,214,241
(GRCh37/hg19)

Genomic View for CAPZA1 Gene

Genes around CAPZA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAPZA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAPZA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAPZA1 Gene

Proteins for CAPZA1 Gene

  • Protein details for CAPZA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52907-CAZA1_HUMAN
    Recommended name:
    F-actin-capping protein subunit alpha-1
    Protein Accession:
    P52907
    Secondary Accessions:
    • Q53FQ6
    • Q6FHD5

    Protein attributes for CAPZA1 Gene

    Size:
    286 amino acids
    Molecular mass:
    32923 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. Interacts with S100A (By similarity). Component of the WASH complex, composed of F-actin-capping protein subunit alpha (CAPZA1, CAPZA2 or CAPZA3), F-actin-capping protein subunit beta (CAPZB), WASH (WASHC1, WASH2P, WASH3P, WASH4P, WASH5P or WASH6P), WASHC2 (WASHC2A or WASHC2C), WASHC3, WASHC4 and WASHC5. Interacts with S100B. Interacts with SH3BP1; recruits CAPZA1 to forming cell junctions (PubMed:22891260). Interacts with CD2AP (PubMed:22891260).

    Three dimensional structures from OCA and Proteopedia for CAPZA1 Gene

neXtProt entry for CAPZA1 Gene

Post-translational modifications for CAPZA1 Gene

  • Ubiquitination at Lys97, posLast=118118, Lys133, posLast=166166, Lys178, and posLast=226226
  • Modification sites at PhosphoSitePlus

Other Protein References for CAPZA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CAPZA1 Gene

Domains & Families for CAPZA1 Gene

Gene Families for CAPZA1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CAPZA1 Gene

Suggested Antigen Peptide Sequences for CAPZA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P52907

UniProtKB/Swiss-Prot:

CAZA1_HUMAN :
  • Belongs to the F-actin-capping protein alpha subunit family.
Family:
  • Belongs to the F-actin-capping protein alpha subunit family.
genes like me logo Genes that share domains with CAPZA1: view

Function for CAPZA1 Gene

Molecular function for CAPZA1 Gene

UniProtKB/Swiss-Prot Function:
F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. May play a role in the formation of epithelial cell junctions.

Phenotypes From GWAS Catalog for CAPZA1 Gene

Gene Ontology (GO) - Molecular Function for CAPZA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 22891260
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with CAPZA1: view

Phenotypes for CAPZA1 Gene

GenomeRNAi human phenotypes for CAPZA1:
genes like me logo Genes that share phenotypes with CAPZA1: view

miRNA for CAPZA1 Gene

miRTarBase miRNAs that target CAPZA1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CAPZA1 Gene

Localization for CAPZA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAPZA1 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAPZA1 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CAPZA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 16130169
GO:0008290 F-actin capping protein complex IEA,TAS --
genes like me logo Genes that share ontologies with CAPZA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CAPZA1 Gene

Pathways & Interactions for CAPZA1 Gene

genes like me logo Genes that share pathways with CAPZA1: view

Pathways by source for CAPZA1 Gene

SIGNOR curated interactions for CAPZA1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CAPZA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly TAS 9331217
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006928 movement of cell or subcellular component TAS 16130169
GO:0007596 blood coagulation TAS --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
genes like me logo Genes that share ontologies with CAPZA1: view

Drugs & Compounds for CAPZA1 Gene

No Compound Related Data Available

Transcripts for CAPZA1 Gene

Unigene Clusters for CAPZA1 Gene

Capping protein (actin filament) muscle Z-line, alpha 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAPZA1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11
SP1: - - - -
SP2: - -
SP3: -
SP4: -
SP5:

Relevant External Links for CAPZA1 Gene

GeneLoc Exon Structure for
CAPZA1
ECgene alternative splicing isoforms for
CAPZA1

Expression for CAPZA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CAPZA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CAPZA1 Gene

This gene is overexpressed in Whole Blood (x6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CAPZA1 Gene



Protein tissue co-expression partners for CAPZA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CAPZA1 Gene:

CAPZA1

SOURCE GeneReport for Unigene cluster for CAPZA1 Gene:

Hs.744974

Evidence on tissue expression from TISSUES for CAPZA1 Gene

  • Blood(4.6)
  • Liver(4.3)
  • Stomach(4.3)
  • Nervous system(3.6)
  • Skin(2.7)
  • Lung(2.5)
  • Intestine(2.4)
genes like me logo Genes that share expression patterns with CAPZA1: view

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAPZA1 Gene

Orthologs for CAPZA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CAPZA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAPZA1 33 34
  • 97.2 (n)
dog
(Canis familiaris)
Mammalia CAPZA1 33
  • 96.62 (n)
-- 34
  • 94 (a)
OneToMany
-- 34
  • 92 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CAPZA1 33 34
  • 95.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 94 (a)
OneToMany
-- 34
  • 82 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Capza1 33
  • 93.12 (n)
mouse
(Mus musculus)
Mammalia Capza1 33 16 34
  • 92.42 (n)
4933400A11Rik 34
  • 68 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia CAPZA1 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAPZA1 33 34
  • 84.62 (n)
lizard
(Anolis carolinensis)
Reptilia CAPZA1 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia capza1 33
  • 78.55 (n)
zebrafish
(Danio rerio)
Actinopterygii capza1a 33
  • 75.99 (n)
wufa19e05 33
fruit fly
(Drosophila melanogaster)
Insecta CG10540 35
  • 64 (a)
cpa 33 34
  • 61.13 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006141 33
  • 59.74 (n)
worm
(Caenorhabditis elegans)
Secernentea cap-1 35 33 34
  • 57.51 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAP1 34
  • 28 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G05520 33
  • 47.52 (n)
rice
(Oryza sativa)
Liliopsida Os07g0414800 33
  • 49.06 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8055 34
  • 55 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2607 33
Species where no ortholog for CAPZA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CAPZA1 Gene

ENSEMBL:
Gene Tree for CAPZA1 (if available)
TreeFam:
Gene Tree for CAPZA1 (if available)

Paralogs for CAPZA1 Gene

Paralogs for CAPZA1 Gene

(2) SIMAP similar genes for CAPZA1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CAPZA1: view

Variants for CAPZA1 Gene

Sequence variations from dbSNP and Humsavar for CAPZA1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000007271 -- 112,641,907(+) T/A intron_variant
rs1000128397 -- 112,634,194(+) T/C intron_variant
rs1000137429 -- 112,618,272(+) T/A/C upstream_transcript_variant
rs1000212011 -- 112,649,572(+) G/A intron_variant
rs1000228038 -- 112,641,491(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CAPZA1 Gene

Variant ID Type Subtype PubMed ID
esv27061 CNV gain+loss 19812545
esv3310239 CNV mobile element insertion 20981092
esv3356260 CNV insertion 20981092
esv3587216 CNV loss 21293372
nsv159055 CNV deletion 16902084
nsv946142 CNV duplication 23825009

Variation tolerance for CAPZA1 Gene

Residual Variation Intolerance Score: 75.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.47; 43.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAPZA1 Gene

Human Gene Mutation Database (HGMD)
CAPZA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAPZA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAPZA1 Gene

Disorders for CAPZA1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CAPZA1 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
autosomal recessive primary microcephaly
  • mcph
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CAPZA1

genes like me logo Genes that share disorders with CAPZA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CAPZA1 Gene

Publications for CAPZA1 Gene

  1. Epithelial junction formation requires confinement of Cdc42 activity by a novel SH3BP1 complex. (PMID: 22891260) Elbediwy A … Balda MS (The Journal of cell biology 2012) 3 4 58
  2. Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. (PMID: 21572416) Kato N … He J (Nature genetics 2011) 3 44 58
  3. The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex. (PMID: 19922875) Derivery E … Gautreau A (Developmental cell 2009) 3 4 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for CAPZA1 Gene

Sources for CAPZA1 Gene

Content
Loading form....