• Gene id: 763

Gene Summary

• Gene Symbol: CA5A   Gene   UCSC   Ensembl
• Aliases: CA5, CA5AD, CAV, CAVA, GS1-21A4.1
• Gene name: carbonic anhydrase 5A
• Alternate names: carbonic anhydrase 5A, mitochondrial, CA-VA, carbonate dehydratase VA, carbonic anhydrase V, mitochondrial, carbonic anhydrase VA, mitochondrial, carbonic dehydratase,
• Gene location: 16q24.2 (119468443: 119471395)     Exons: 4     NC_000023.11
• 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: 114761

Protein Summary

• Protein general information: P35218  
  • Name: Carbonic anhydrase 5A, mitochondrial (EC 4.2.1.1) (Carbonate dehydratase VA) (Carbonic anhydrase VA) (CA VA)
  • Length: 305  
  • Mass: 34750
• Sequence:

  MLGRNTWKTSAFSFLVEQMWAPLWSRSMRPGRWCSQRSCAWQTSNNTLHPLWTVPVSVPGGTRQSPINIQWRDSV
  YDPQLKPLRVSYEAASCLYIWNTGYLFQVEFDDATEASGISGGPLENHYRLKQFHFHWGAVNEGGSEHTVDGHAY
  PAELHLVHWNSVKYQNYKEAVVGENGLAVIGVFLKLGAHHQTLQRLVDILPEIKHKDARAAMRPFDPSTLLPTCW
  DYWTYAGSLTTPPLTESVTWIIQKEPVEVAPSQLSAFRTLLFSALGEEEKMMVNNYRPLQPLMNRKVWASFQATN
  EGTRS

• Structural information:
  • Protein Domains: (39..29-)
    (/note="Alpha-carbonic-anhydrase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01134"-)
  • Interpro: IPR001148  IPR036398  IPR023561  IPR018338  
  • Prosite: PS00162 PS51144
  • STRING: ENSP00000309649
• Other Databases: GeneCards:  CA5A  Malacards:  CA5A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006730	one-carbon metabolic process	IBA	biological process
GO:0004089	carbonate dehydratase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0016836	hydro-lyase 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:0005739	mitochondrion	IEA	cellular component
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0005759	mitochondrial matrix	NAS	cellular component
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0015701	bicarbonate transport	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00910	Nitrogen metabolism

Diseases

Associated diseases	References
Secondary hyperammonemia	KEGG:H01400
Secondary hyperammonemia	KEGG:H01400
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq