CA1 (carbonic anhydrase 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
759
Gene name Gene Name - the full gene name approved by the HGNC.
Carbonic anhydrase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CA1
Synonyms (NCBI Gene) Gene synonyms aliases
CA-I, CAB, Car1, HEL-S-11
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption,
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs121909577 C>G,T Pathogenic Missense variant, coding sequence variant
rs121909578 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT021737 hsa-miR-132-3p Microarray 17612493
MIRT028780 hsa-miR-26b-5p Microarray 19088304
MIRT735715 hsa-miR-451a Microarray 32908896
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0004064 Function Arylesterase activity IMP 7758465
GO:0004089 Function Carbonate dehydratase activity IBA 21873635
GO:0004089 Function Carbonate dehydratase activity IMP 7758465
GO:0005515 Function Protein binding IPI 25416956, 25910212
GO:0005737 Component Cytoplasm IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
114800 1368 ENSG00000133742
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P00915
Protein name Carbonic anhydrase 1 (EC 4.2.1.1) (Carbonate dehydratase I) (Carbonic anhydrase B) (CAB) (Carbonic anhydrase I) (CA-I) (Cyanamide hydratase CA1) (EC 4.2.1.69)
Protein function Catalyzes the reversible hydration of carbon dioxide (PubMed:10550681, PubMed:16506782, PubMed:16686544, PubMed:16807956, PubMed:17127057, PubMed:17314045, PubMed:17407288, PubMed:18618712, PubMed:19186056, PubMed:19206230). Can hydrate cyanamid
PDB 1AZM , 1BZM , 1CRM , 1CZM , 1HCB , 1HUG , 1HUH , 1J9W , 1JV0 , 2CAB , 2FOY , 2FW4 , 2IT4 , 2NMX , 2NN1 , 2NN7 , 3LXE , 3W6H , 3W6I , 4WR7 , 4WUP , 4WUQ , 5E2M , 5GMM , 6EVR , 6EX1 , 6F3B , 6FAF , 6FAG , 6G3V , 6HWZ , 6I0J , 6I0L , 6SWM , 6XZE , 6XZO , 6XZS , 6XZX , 6XZY , 6Y00 , 7PLF , 7Q0D , 7QOB , 7ZL5 , 8CDX , 8CDZ , 8Q6L , 8Q7G , 8QGV , 8QQ9 , 8QUN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00194 Carb_anhydrase 5 → 260 Eukaryotic-type carbonic anhydrase Domain
Sequence
Sequence length 261
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Nitrogen metabolism
Metabolic pathways 		  Erythrocytes take up carbon dioxide and release oxygen
Erythrocytes take up oxygen and release carbon dioxide
Reversible hydration of carbon dioxide
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Adenocarcinoma Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular rs121913530, rs886039394, rs121913474 15378696
Carcinoma Carcinoma, Cribriform, Carcinoma, Granular Cell rs121912654, rs555607708, rs786202962, rs1564055259 15378696
Esophagus neoplasm Squamous cell carcinoma of esophagus rs28934578, rs121918714, rs1567556006, rs1575166666 21517111
Gastric cancer Hereditary Diffuse Gastric Cancer rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802
View all (244 more)		 15378696, 19424620
Show/Hide Text Mining Associations (51)
Associations from Text Mining
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 35648061
Alzheimer Disease Stimulate 32107063
Alzheimer Disease Inhibit 35778717
Amyotrophic Lateral Sclerosis Associate 27809276
Anemia Diamond Blackfan Associate 3498522
Apraxias Associate 24015209
Arthritis Rheumatoid Associate 22838845
Ascites Associate 30345303
Bipolar Disorder Associate 26375446
Bone Diseases Metabolic Associate 22619369