Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways
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,

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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

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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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004064	Function	Arylesterase activity	IMP	7758465
GO:0004089	Function	Carbonate dehydratase activity	IBA
GO:0004089	Function	Carbonate dehydratase activity	IDA	10550681
GO:0004089	Function	Carbonate dehydratase activity	IEA
GO:0004089	Function	Carbonate dehydratase activity	IMP	7758465, 16506782, 16686544, 16807956, 17127057, 17314045, 17407288, 19206230
GO:0004089	Function	Carbonate dehydratase activity	TAS	2121614
GO:0005515	Function	Protein binding	IPI	25416956, 25910212
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0008270	Function	Zinc ion binding	IEA
GO:0009750	Process	Response to fructose	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016836	Function	Hydro-lyase activity	IDA	2114290
GO:0018820	Function	Cyanamide hydratase activity	IDA	10550681
GO:0018820	Function	Cyanamide hydratase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
114800	1368	ENSG00000133742

Protein

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

MASPDWGYDDKNGPEQWSKLYPIANGNNQSPVDIKTSETKHDTSLKPISVSYNPATAKEI
INVGHSFHVNFEDNDNRSVLKGGPFSDSYRLFQFHFHWGSTNEHGSEHTVDGVKYSAELH
VAHWNSAKYSSLAEAASKADGLAVIGVLMKVGEANPKLQKVLDALQAIKTKGKRAPFTNF
DPSTLLPSSLDFWTYPGSLTHPPLYESVTWIICKESISVSSEQLAQFRSLLSNVEGDNAV
PMQHNNRPTQPLKGRTVRASF

Sequence length

261

Interactions

View interactions

	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

CA1 (carbonic anhydrase 1)