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

Identity

Alias_namescapping protein (actin filament) muscle Z-line
Other aliasCAPPA1
CAPZ
CAZ1
HGNC (Hugo) CAPZA1
LocusID (NCBI) 829
Atlas_Id 52471
Location 1p13.2  [Link to chromosome band 1p13]
Location_base_pair Starts at 112619453 and ends at 112671619 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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

 


External links

Nomenclature
HGNC (Hugo)CAPZA1   1488
Cards
Entrez_Gene (NCBI)CAPZA1  829  capping actin protein of muscle Z-line alpha subunit 1
AliasesCAPPA1; CAPZ; CAZ1
GeneCards (Weizmann)CAPZA1
Ensembl hg19 (Hinxton)ENSG00000116489 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116489 [Gene_View]  chr1:112619453-112671619 [Contig_View]  CAPZA1 [Vega]
ICGC DataPortalENSG00000116489
TCGA cBioPortalCAPZA1
AceView (NCBI)CAPZA1
Genatlas (Paris)CAPZA1
WikiGenes829
SOURCE (Princeton)CAPZA1
Genetics Home Reference (NIH)CAPZA1
Genomic and cartography
GoldenPath hg38 (UCSC)CAPZA1  -     chr1:112619453-112671619 +  1p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CAPZA1  -     1p13.2   [Description]    (hg19-Feb_2009)
EnsemblCAPZA1 - 1p13.2 [CytoView hg19]  CAPZA1 - 1p13.2 [CytoView hg38]
Mapping of homologs : NCBICAPZA1 [Mapview hg19]  CAPZA1 [Mapview hg38]
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
Cluster EST : UnigeneHs.744974 [ NCBI ]
CGAP (NCI)Hs.744974
Alternative Splicing GalleryENSG00000116489
Gene ExpressionCAPZA1 [ NCBI-GEO ]   CAPZA1 [ EBI - ARRAY_EXPRESS ]   CAPZA1 [ SEEK ]   CAPZA1 [ MEM ]
Gene Expression Viewer (FireBrowse)CAPZA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)829
GTEX Portal (Tissue expression)CAPZA1
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    F-actin_cap_asu_CS   
Domain families : Pfam (Sanger)F-actin_cap_A (PF01267)   
Domain families : Pfam (NCBI)pfam01267   
Conserved Domain (NCBI)CAPZA1
DMDM Disease mutations829
Blocks (Seattle)CAPZA1
PDB (SRS)1MQ1    1MWN   
PDB (PDBSum)1MQ1    1MWN   
PDB (IMB)1MQ1    1MWN   
PDB (RSDB)1MQ1    1MWN   
Structural Biology KnowledgeBase1MQ1    1MWN   
SCOP (Structural Classification of Proteins)1MQ1    1MWN   
CATH (Classification of proteins structures)1MQ1    1MWN   
SuperfamilyP52907
Human Protein AtlasENSG00000116489
Peptide AtlasP52907
HPRD03347
IPIIPI00005969   
Protein Interaction databases
DIP (DOE-UCLA)P52907
IntAct (EBI)P52907
FunCoupENSG00000116489
BioGRIDCAPZA1
STRING (EMBL)CAPZA1
ZODIACCAPZA1
Ontologies - Pathways
QuickGOP52907
Ontology : AmiGOactin binding  protein binding  extracellular region  cytosol  cytoskeleton  protein complex assembly  movement of cell or subcellular component  blood coagulation  F-actin capping protein complex  actin cytoskeleton  innate immune response  cadherin binding  barbed-end actin filament capping  extracellular exosome  WASH complex  
Ontology : EGO-EBIactin binding  protein binding  extracellular region  cytosol  cytoskeleton  protein complex assembly  movement of cell or subcellular component  blood coagulation  F-actin capping protein complex  actin cytoskeleton  innate immune response  cadherin binding  barbed-end actin filament capping  extracellular exosome  WASH complex  
NDEx NetworkCAPZA1
Atlas of Cancer Signalling NetworkCAPZA1
Wikipedia pathwaysCAPZA1
Orthology - Evolution
OrthoDB829
GeneTree (enSembl)ENSG00000116489
Phylogenetic Trees/Animal Genes : TreeFamCAPZA1
HOVERGENP52907
HOGENOMP52907
Homologs : HomoloGeneCAPZA1
Homology/Alignments : Family Browser (UCSC)CAPZA1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAPZA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAPZA1
dbVarCAPZA1
ClinVarCAPZA1
1000_GenomesCAPZA1 
Exome Variant ServerCAPZA1
ExAC (Exome Aggregation Consortium)CAPZA1 (select the gene name)
Genetic variants : HAPMAP829
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601580   
Orphanet
MedgenCAPZA1
Genetic Testing Registry CAPZA1
NextProtP52907 [Medical]
TSGene829
GENETestsCAPZA1
Target ValidationCAPZA1
Huge Navigator CAPZA1 [HugePedia]
snp3D : Map Gene to Disease829
BioCentury BCIQCAPZA1
ClinGenCAPZA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD829
Chemical/Pharm GKB GenePA26069
Clinical trialCAPZA1
Miscellaneous
canSAR (ICR)CAPZA1 (select the gene name)
Probes
Litterature
PubMed77 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAPZA1
EVEXCAPZA1
GoPubMedCAPZA1
iHOPCAPZA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:26:40 CEST 2017

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