Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CA1 (carbonic anhydrase 1)

Identity

Alias_namescarbonic anhydrase I
Alias_symbol (synonym)Car1
Other aliasCA-I
CAB
HEL-S-11
HGNC (Hugo) CA1
LocusID (NCBI) 759
Atlas_Id 53151
Location 8q21.2  [Link to chromosome band 8q21]
Location_base_pair Starts at 85328229 and ends at 85378154 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)
HTATIP2 (11p15.1) / CA1 (8q21.2)

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Lung: Translocations in Squamous Cell Carcinoma
t(8;11)(q21;p15) HTATIP2/CA1

External links

Nomenclature
HGNC (Hugo)CA1   1368
Cards
Entrez_Gene (NCBI)CA1  759  carbonic anhydrase 1
AliasesCA-I; CAB; Car1; HEL-S-11
GeneCards (Weizmann)CA1
Ensembl hg19 (Hinxton)ENSG00000133742 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000133742 [Gene_View]  ENSG00000133742 [Sequence]  chr8:85328229-85378154 [Contig_View]  CA1 [Vega]
ICGC DataPortalENSG00000133742
TCGA cBioPortalCA1
AceView (NCBI)CA1
Genatlas (Paris)CA1
WikiGenes759
SOURCE (Princeton)CA1
Genetics Home Reference (NIH)CA1
Genomic and cartography
GoldenPath hg38 (UCSC)CA1  -     chr8:85328229-85378154 -  8q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CA1  -     8q21.2   [Description]    (hg19-Feb_2009)
EnsemblCA1 - 8q21.2 [CytoView hg19]  CA1 - 8q21.2 [CytoView hg38]
Mapping of homologs : NCBICA1 [Mapview hg19]  CA1 [Mapview hg38]
OMIM114800   
Gene and transcription
Genbank (Entrez)AI802646 BC027890 BP261967 BU655910 BU656154
RefSeq transcript (Entrez)NM_001128829 NM_001128830 NM_001128831 NM_001164830 NM_001291967 NM_001291968 NM_001738
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CA1
Cluster EST : UnigeneHs.23118 [ NCBI ]
CGAP (NCI)Hs.23118
Alternative Splicing GalleryENSG00000133742
Gene ExpressionCA1 [ NCBI-GEO ]   CA1 [ EBI - ARRAY_EXPRESS ]   CA1 [ SEEK ]   CA1 [ MEM ]
Gene Expression Viewer (FireBrowse)CA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)759
GTEX Portal (Tissue expression)CA1
Human Protein AtlasENSG00000133742-CA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00915   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP00915  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP00915
Splice isoforms : SwissVarP00915
Catalytic activity : Enzyme4.2.1.1 [ Enzyme-Expasy ]   4.2.1.14.2.1.1 [ IntEnz-EBI ]   4.2.1.1 [ BRENDA ]   4.2.1.1 [ KEGG ]   
PhosPhoSitePlusP00915
Domaine pattern : Prosite (Expaxy)ALPHA_CA_1 (PS00162)    ALPHA_CA_2 (PS51144)   
Domains : Interpro (EBI)Carbonic_anhydrase_a    Carbonic_anhydrase_a-class    Carbonic_anhydrase_a-class_CS    Carbonic_anhydrase_a_sf    Carbonic_anhydrase_CA1   
Domain families : Pfam (Sanger)Carb_anhydrase (PF00194)   
Domain families : Pfam (NCBI)pfam00194   
Domain families : Smart (EMBL)Carb_anhydrase (SM01057)  
Conserved Domain (NCBI)CA1
DMDM Disease mutations759
Blocks (Seattle)CA1
PDB (RSDB)1AZM    1BZM    1CRM    1CZM    1HCB    1HUG    1HUH    1J9W    1JV0    2CAB    2FOY    2FW4    2IT4    2NMX    2NN1    2NN7    3LXE    3W6H    3W6I    4WR7    4WUP    4WUQ    5E2M    5GMM   
PDB Europe1AZM    1BZM    1CRM    1CZM    1HCB    1HUG    1HUH    1J9W    1JV0    2CAB    2FOY    2FW4    2IT4    2NMX    2NN1    2NN7    3LXE    3W6H    3W6I    4WR7    4WUP    4WUQ    5E2M    5GMM   
PDB (PDBSum)1AZM    1BZM    1CRM    1CZM    1HCB    1HUG    1HUH    1J9W    1JV0    2CAB    2FOY    2FW4    2IT4    2NMX    2NN1    2NN7    3LXE    3W6H    3W6I    4WR7    4WUP    4WUQ    5E2M    5GMM   
PDB (IMB)1AZM    1BZM    1CRM    1CZM    1HCB    1HUG    1HUH    1J9W    1JV0    2CAB    2FOY    2FW4    2IT4    2NMX    2NN1    2NN7    3LXE    3W6H    3W6I    4WR7    4WUP    4WUQ    5E2M    5GMM   
Structural Biology KnowledgeBase1AZM    1BZM    1CRM    1CZM    1HCB    1HUG    1HUH    1J9W    1JV0    2CAB    2FOY    2FW4    2IT4    2NMX    2NN1    2NN7    3LXE    3W6H    3W6I    4WR7    4WUP    4WUQ    5E2M    5GMM   
SCOP (Structural Classification of Proteins)1AZM    1BZM    1CRM    1CZM    1HCB    1HUG    1HUH    1J9W    1JV0    2CAB    2FOY    2FW4    2IT4    2NMX    2NN1    2NN7    3LXE    3W6H    3W6I    4WR7    4WUP    4WUQ    5E2M    5GMM   
CATH (Classification of proteins structures)1AZM    1BZM    1CRM    1CZM    1HCB    1HUG    1HUH    1J9W    1JV0    2CAB    2FOY    2FW4    2IT4    2NMX    2NN1    2NN7    3LXE    3W6H    3W6I    4WR7    4WUP    4WUQ    5E2M    5GMM   
SuperfamilyP00915
Human Protein Atlas [tissue]ENSG00000133742-CA1 [tissue]
Peptide AtlasP00915
HPRD00265
IPIIPI00215983   IPI00798267   IPI00985350   IPI01015710   IPI00977761   IPI01015030   IPI00978296   IPI00980674   IPI00977704   IPI00976480   IPI00978901   IPI00982406   IPI00977005   IPI00981830   
Protein Interaction databases
DIP (DOE-UCLA)P00915
IntAct (EBI)P00915
FunCoupENSG00000133742
BioGRIDCA1
STRING (EMBL)CA1
ZODIACCA1
Ontologies - Pathways
QuickGOP00915
Ontology : AmiGOarylesterase activity  carbonate dehydratase activity  carbonate dehydratase activity  protein binding  cytosol  one-carbon metabolic process  zinc ion binding  bicarbonate transport  hydro-lyase activity  interleukin-12-mediated signaling pathway  extracellular exosome  
Ontology : EGO-EBIarylesterase activity  carbonate dehydratase activity  carbonate dehydratase activity  protein binding  cytosol  one-carbon metabolic process  zinc ion binding  bicarbonate transport  hydro-lyase activity  interleukin-12-mediated signaling pathway  extracellular exosome  
Pathways : KEGGNitrogen metabolism   
NDEx NetworkCA1
Atlas of Cancer Signalling NetworkCA1
Wikipedia pathwaysCA1
Orthology - Evolution
OrthoDB759
GeneTree (enSembl)ENSG00000133742
Phylogenetic Trees/Animal Genes : TreeFamCA1
HOGENOMP00915
Homologs : HomoloGeneCA1
Homology/Alignments : Family Browser (UCSC)CA1
Gene fusions - Rearrangements
Fusion : MitelmanHTATIP2/CA1 [11p15.1/8q21.2]  [t(8;11)(q21;p15)]  
Fusion : QuiverCA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CA1
dbVarCA1
ClinVarCA1
1000_GenomesCA1 
Exome Variant ServerCA1
ExAC (Exome Aggregation Consortium)ENSG00000133742
GNOMAD BrowserENSG00000133742
Varsome BrowserCA1
Genetic variants : HAPMAP759
Genomic Variants (DGV)CA1 [DGVbeta]
DECIPHERCA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCA1 
Mutations
ICGC Data PortalCA1 
TCGA Data PortalCA1 
Broad Tumor PortalCA1
OASIS PortalCA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCA1
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 CA1
DgiDB (Drug Gene Interaction Database)CA1
DoCM (Curated mutations)CA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CA1 (select a term)
intoGenCA1
Cancer3DCA1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114800   
Orphanet
DisGeNETCA1
MedgenCA1
Genetic Testing Registry CA1
NextProtP00915 [Medical]
TSGene759
GENETestsCA1
Target ValidationCA1
Huge Navigator CA1 [HugePedia]
snp3D : Map Gene to Disease759
BioCentury BCIQCA1
ClinGenCA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD759
Chemical/Pharm GKB GenePA25984
Clinical trialCA1
Miscellaneous
canSAR (ICR)CA1 (select the gene name)
DataMed IndexCA1
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCA1
EVEXCA1
GoPubMedCA1
iHOPCA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 17 18:04:03 CET 2019
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