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CAPZA1 (capping actin protein of muscle Z-line subunit alpha 1)

Identity

Alias (NCBI)CAPPA1
CAPZ
CAZ1
HGNC (Hugo) CAPZA1
HGNC Previous namecapping protein (actin filament) muscle Z-line, alpha 1
 capping actin protein of muscle Z-line alpha subunit 1
LocusID (NCBI) 829
Atlas_Id 52471
Location 1p13.2  [Link to chromosome band 1p13]
Location_base_pair Starts at 112619832 and ends at 112671614 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CAPZA1 (1p13.2) / VPS52 (6p21.32)EBF1 (5q33.3) / CAPZA1 (1p13.2)HIST2H2BE (1q21.2) / CAPZA1 (1p13.2)
PLD3 (19q13.2) / CAPZA1 (1p13.2)RBFOX2 (22q12.3) / CAPZA1 (1p13.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(1;1)(q24;q25) RCSD1/ABL2::inv(1)(q24q25) RCSD1/ABL2

External links

Nomenclature
HGNC (Hugo)CAPZA1   1488
Cards
Entrez_Gene (NCBI)CAPZA1    capping actin protein of muscle Z-line subunit alpha 1
AliasesCAPPA1; CAPZ; CAZ1
GeneCards (Weizmann)CAPZA1
Ensembl hg19 (Hinxton)ENSG00000116489 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116489 [Gene_View]  ENSG00000116489 [Sequence]  chr1:112619832-112671614 [Contig_View]  CAPZA1 [Vega]
ICGC DataPortalENSG00000116489
TCGA cBioPortalCAPZA1
AceView (NCBI)CAPZA1
Genatlas (Paris)CAPZA1
SOURCE (Princeton)CAPZA1
Genetics Home Reference (NIH)CAPZA1
Genomic and cartography
GoldenPath hg38 (UCSC)CAPZA1  -     chr1:112619832-112671614 +  1p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CAPZA1  -     1p13.2   [Description]    (hg19-Feb_2009)
GoldenPathCAPZA1 - 1p13.2 [CytoView hg19]  CAPZA1 - 1p13.2 [CytoView hg38]
ImmunoBaseENSG00000116489
genome Data Viewer NCBICAPZA1 [Mapview hg19]  
OMIM601580   
Gene and transcription
Genbank (Entrez)AJ227918 AK223226 AK289654 BC000144 BC034391
RefSeq transcript (Entrez)NM_006135
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CAPZA1
Alternative Splicing GalleryENSG00000116489
Gene ExpressionCAPZA1 [ NCBI-GEO ]   CAPZA1 [ EBI - ARRAY_EXPRESS ]   CAPZA1 [ SEEK ]   CAPZA1 [ MEM ]
Gene Expression Viewer (FireBrowse)CAPZA1 [ Firebrowse - Broad ]
GenevisibleExpression of CAPZA1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)829
GTEX Portal (Tissue expression)CAPZA1
Human Protein AtlasENSG00000116489-CAPZA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP52907   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP52907  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP52907
Splice isoforms : SwissVarP52907
PhosPhoSitePlusP52907
Domaine pattern : Prosite (Expaxy)F_ACTIN_CAPPING_A_1 (PS00748)    F_ACTIN_CAPPING_A_2 (PS00749)   
Domains : Interpro (EBI)CapZ_alpha    CapZ_alpha/beta    CapZ_alpha/beta_2    CapZ_alpha_1    F-actin_cap_asu_CS   
Domain families : Pfam (Sanger)F-actin_cap_A (PF01267)   
Domain families : Pfam (NCBI)pfam01267   
Conserved Domain (NCBI)CAPZA1
Blocks (Seattle)CAPZA1
PDB (RSDB)1MQ1    1MWN   
PDB Europe1MQ1    1MWN   
PDB (PDBSum)1MQ1    1MWN   
PDB (IMB)1MQ1    1MWN   
Structural Biology KnowledgeBase1MQ1    1MWN   
SCOP (Structural Classification of Proteins)1MQ1    1MWN   
CATH (Classification of proteins structures)1MQ1    1MWN   
SuperfamilyP52907
Human Protein Atlas [tissue]ENSG00000116489-CAPZA1 [tissue]
Peptide AtlasP52907
HPRD03347
IPIIPI00005969   
Protein Interaction databases
DIP (DOE-UCLA)P52907
IntAct (EBI)P52907
BioGRIDCAPZA1
STRING (EMBL)CAPZA1
ZODIACCAPZA1
Ontologies - Pathways
QuickGOP52907
Ontology : AmiGOactin binding  protein binding  extracellular region  cytosol  cytoskeleton  endoplasmic reticulum to Golgi vesicle-mediated transport  blood coagulation  F-actin capping protein complex  actin cytoskeleton  antigen processing and presentation of exogenous peptide antigen via MHC class II  actin cytoskeleton organization  cell junction assembly  interleukin-12-mediated signaling pathway  innate immune response  cadherin binding  actin filament binding  barbed-end actin filament capping  protein-containing complex assembly  extracellular exosome  WASH complex  
Ontology : EGO-EBIactin binding  protein binding  extracellular region  cytosol  cytoskeleton  endoplasmic reticulum to Golgi vesicle-mediated transport  blood coagulation  F-actin capping protein complex  actin cytoskeleton  antigen processing and presentation of exogenous peptide antigen via MHC class II  actin cytoskeleton organization  cell junction assembly  interleukin-12-mediated signaling pathway  innate immune response  cadherin binding  actin filament binding  barbed-end actin filament capping  protein-containing complex assembly  extracellular exosome  WASH complex  
NDEx NetworkCAPZA1
Atlas of Cancer Signalling NetworkCAPZA1
Wikipedia pathwaysCAPZA1
Orthology - Evolution
OrthoDB829
GeneTree (enSembl)ENSG00000116489
Phylogenetic Trees/Animal Genes : TreeFamCAPZA1
HOGENOMP52907
Homologs : HomoloGeneCAPZA1
Homology/Alignments : Family Browser (UCSC)CAPZA1
Gene fusions - Rearrangements
Fusion : QuiverCAPZA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAPZA1 [hg38]
dbVarCAPZA1
ClinVarCAPZA1
MonarchCAPZA1
1000_GenomesCAPZA1 
Exome Variant ServerCAPZA1
GNOMAD BrowserENSG00000116489
Varsome BrowserCAPZA1
Genomic Variants (DGV)CAPZA1 [DGVbeta]
DECIPHERCAPZA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCAPZA1 
Mutations
ICGC Data PortalCAPZA1 
TCGA Data PortalCAPZA1 
Broad Tumor PortalCAPZA1
OASIS PortalCAPZA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAPZA1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCAPZA1
Mutations and Diseases : HGMDCAPZA1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CAPZA1
DgiDB (Drug Gene Interaction Database)CAPZA1
DoCM (Curated mutations)CAPZA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAPZA1 (select a term)
intoGenCAPZA1
Cancer3DCAPZA1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601580   
Orphanet
DisGeNETCAPZA1
MedgenCAPZA1
Genetic Testing Registry CAPZA1
NextProtP52907 [Medical]
GENETestsCAPZA1
Target ValidationCAPZA1
Huge Navigator CAPZA1 [HugePedia]
ClinGenCAPZA1
Clinical trials, drugs, therapy
MyCancerGenomeCAPZA1
Protein Interactions : CTD
Pharm GKB GenePA26069
PharosP52907
Clinical trialCAPZA1
Miscellaneous
canSAR (ICR)CAPZA1 (select the gene name)
HarmonizomeCAPZA1
DataMed IndexCAPZA1
Probes
Litterature
PubMed141 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCAPZA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Mar 25 19:13:49 CET 2021
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