• Gene id: 377677

Gene Summary

• Gene Symbol: CA13   Gene   UCSC   Ensembl
• Aliases: CAXIII
• Gene name: carbonic anhydrase 13
• Alternate names: carbonic anhydrase 13, CA-XIII, carbonate dehydratase XIII, carbonic anhydrase XIII,
• Gene location: 8q21.2 (33391523: 33410225)     Exons: 13     NC_000006.12
• Gene summary(Entrez): Carbonic anhydrases (CAs) are a family of zinc metalloenzymes. For background information on the CA family, see MIM 114800.[supplied by OMIM, Mar 2008]
• OMIM: 611436

Protein Summary

• Protein general information: Q8N1Q1  
  • Name: Carbonic anhydrase 13 (EC 4.2.1.1) (Carbonate dehydratase XIII) (Carbonic anhydrase XIII) (CA XIII)
  • Length: 262  
  • Mass: 29443
  • Tissue specificity: Expressed in thymus, small intestine, spleen, prostate, ovary, colon and testis. {ECO
• Sequence:

  MSRLSWGYREHNGPIHWKEFFPIADGDQQSPIEIKTKEVKYDSSLRPLSIKYDPSSAKIISNSGHSFNVDFDDTE
  NKSVLRGGPLTGSYRLRQVHLHWGSADDHGSEHIVDGVSYAAELHVVHWNSDKYPSFVEAAHEPDGLAVLGVFLQ
  IGEPNSQLQKITDTLDSIKEKGKQTRFTNFDLLSLLPPSWDYWTYPGSLTVPPLLESVTWIVLKQPINISSQQLA
  KFRSLLCTAEGEAAAFLVSNHRPPQPLKGRKVRASFH

• Structural information:
  • Protein Domains: (4..26-)
    (/note="Alpha-carbonic-anhydrase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01134"-)
  • Interpro: IPR001148  IPR036398  IPR023561  IPR018338  
  • Prosite: PS00162 PS51144
  • PDB: 3CZV 3D0N 3DA2 4HU1 4KNM 4KNN 4QIZ 4QJP 4QJX 4QSJ 5E2N 5LLA 5LLN 5OGJ 5OHH 6G5U
  • PDBsum: 3CZV 3D0N 3DA2 4HU1 4KNM 4KNN 4QIZ 4QJP 4QJX 4QSJ 5E2N 5LLA 5LLN 5OGJ 5OHH 6G5U
  • STRING: ENSP00000318912
• Other Databases: GeneCards:  CA13  Malacards:  CA13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006730	one-carbon metabolic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0016836	hydro-lyase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0004089	carbonate dehydratase activity	IBA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0015701	bicarbonate transport	TAS	biological process
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:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043209	myelin sheath	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00910	Nitrogen metabolism

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray