• Gene id: 759

Gene Summary

• Gene Symbol: CA1   Gene   UCSC   Ensembl
• Aliases: CA-I, CAB, Car1, HEL-S-11
• Gene name: carbonic anhydrase 1
• Alternate names: carbonic anhydrase 1, carbonate dehydratase I, carbonic anhydrase B, carbonic anhydrase I, epididymis secretory protein Li 11, epididymis secretory sperm binding protein,
• Gene location: 8q21.2 (85378112: 85327607)     Exons: 11     NC_000008.11
• Gene summary(Entrez): 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,
• OMIM: 604073

Protein Summary

• Protein general information: P00915  
  • Name: Carbonic anhydrase 1 (EC 4.2.1.1) (Carbonate dehydratase I) (Carbonic anhydrase B) (CAB) (Carbonic anhydrase I) (CA I)
  • Length: 261  
  • Mass: 28870
• Sequence:

  MASPDWGYDDKNGPEQWSKLYPIANGNNQSPVDIKTSETKHDTSLKPISVSYNPATAKEIINVGHSFHVNFEDND
  NRSVLKGGPFSDSYRLFQFHFHWGSTNEHGSEHTVDGVKYSAELHVAHWNSAKYSSLAEAASKADGLAVIGVLMK
  VGEANPKLQKVLDALQAIKTKGKRAPFTNFDPSTLLPSSLDFWTYPGSLTHPPLYESVTWIICKESISVSSEQLA
  QFRSLLSNVEGDNAVPMQHNNRPTQPLKGRTVRASF

• Structural information:
  • Protein Domains: (4..26-)
    (/note="Alpha-carbonic-anhydrase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01134"-)
  • Interpro: IPR001148  IPR036398  IPR023561  IPR018338  IPR018442  
  • Prosite: PS00162 PS51144
  • 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
  • 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 6EVR 6EX1 6F3B 6FAF 6FAG 6G3V 6HWZ 6I0J 6I0L
  • STRING: ENSP00000430656
• Other Databases: GeneCards:  CA1  Malacards:  CA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004089	carbonate dehydratase activity	IMP	molecular function
GO:0016836	hydro-lyase activity	IDA	molecular function
GO:0004064	arylesterase activity	IMP	molecular function
GO:0006730	one-carbon metabolic process	IBA	biological process
GO:0016836	hydro-lyase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0004089	carbonate dehydratase activity	IBA	molecular function
GO:0006730	one-carbon metabolic process	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016829	lyase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0015701	bicarbonate transport	TAS	biological process
GO:0015701	bicarbonate transport	TAS	biological process
GO:0015701	bicarbonate transport	TAS	biological process
GO:0035722	interleukin-12-mediated signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00910	Nitrogen metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq