• Gene id: 761

Gene Summary

• Gene Symbol: CA3   Gene   UCSC   Ensembl
• Aliases: CAIII, Car3
• Gene name: carbonic anhydrase 3
• Alternate names: carbonic anhydrase 3, CA-III, HEL-S-167mP, carbonate dehydratase III, carbonic anhydrase III, muscle specific, carbonic anhydrase IIII, epididymis secretory sperm binding protein Li 167mP,
• Gene location: 8q21.2 (85438858: 85449039)     Exons: 7     NC_000008.11
• Gene summary(Entrez): Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dio
• OMIM: 147562

SNPs

rs140506267

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.894044A>G
NC_000009.11   g.894044A>G
NG_009221.1   g.57355A>G
NM_021951.3   c.671A>G
NM_021951.2   c.671A>G
NM_001363767.1   c.197A>G
XM_011517773.3   c.197A>G
XM_006716732.1   c.671A>G
XM_011517770.1   c.719A>G
XM_011517771.1   c.719A>G
XM_011517772.1  

rs34946058

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.894156C>G
NC_000009.12   g.894156C>T
NC_000009.11   g.894156C>G
NC_000009.11   g.894156C>T
NG_009221.1   g.57467C>G
NG_009221.1   g.57467C>T
NM_021951.3   c.783C>G
NM_021951.3   c.783C>T
NM_021951.2   c.783C>G
NM_021951.2   c.783C>T
NM_001363767.1   c.309

rs6563386

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36202894C>A
NC_000013.11   g.36202894C>G
NC_000013.11   g.36202894C>T
NC_000013.10   g.36777031C>A
NC_000013.10   g.36777031C>G
NC_000013.10   g.36777031C>T
NG_033786.1   g.16722G>T
NG_033786.1   g.16722G>C
NG_033786.1   g.16722G>A|SEQ=[C/A/G/T]|GENE=

rs1328626

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36204635C>A
NC_000013.10   g.36778772C>A
NG_033786.1   g.14981G>T|SEQ=[C/A]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

rs144122237

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.841785C>T
NC_000009.11   g.841785C>T
NG_009221.1   g.5096C>T
NM_021951.3   c.-54C>T
NM_021951.2   c.-54C>T
XM_006716732.1   c.-54C>T
XM_017014375.1   c.-54C>T|SEQ=[C/T]|GENE=DMRT1

rs376518776

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.842051G>A
NC_000009.11   g.842051G>A
NG_009221.1   g.5362G>A
NM_021951.3   c.213G>A
NM_021951.2   c.213G>A
XM_006716732.1   c.213G>A
XM_017014375.1   c.213G>A|SEQ=[G/A]|GENE=DMRT1

rs200423545

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.967959T>A
NC_000009.12   g.967959T>C
NC_000009.11   g.967959T>A
NC_000009.11   g.967959T>C
NG_009221.1   g.131270T>A
NG_009221.1   g.131270T>C|SEQ=[T/A/C]|GENE=DMRT1

Protein Summary

• Protein general information: P07451  
  • Name: Carbonic anhydrase 3 (EC 4.2.1.1) (Carbonate dehydratase III) (Carbonic anhydrase III) (CA III)
  • Length: 260  
  • Mass: 29557
  • Tissue specificity: Muscle specific.
• Sequence:

  MAKEWGYASHNGPDHWHELFPNAKGENQSPVELHTKDIRHDPSLQPWSVSYDGGSAKTILNNGKTCRVVFDDTYD
  RSMLRGGPLPGPYRLRQFHLHWGSSDDHGSEHTVDGVKYAAELHLVHWNPKYNTFKEALKQRDGIAVIGIFLKIG
  HENGEFQIFLDALDKIKTKGKEAPFTKFDPSCLFPACRDYWTYQGSFTTPPCEECIVWLLLKEPMTVSSDQMAKL
  RSLLSSAENEPPVPLVSNWRPPQPINNRVVRASFK

• Structural information:
  • Protein Domains: (3..25-)
    (/note="Alpha-carbonic-anhydrase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01134"-)
  • Interpro: IPR001148  IPR036398  IPR023561  IPR018338  IPR018441  
  • Prosite: PS00162 PS51144
  • PDB: 1Z93 1Z97 2HFW 3UYN 3UYQ
  • PDBsum: 1Z93 1Z97 2HFW 3UYN 3UYQ
  • STRING: ENSP00000285381
• Other Databases: GeneCards:  CA3  Malacards:  CA3

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: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: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:0005829	cytosol	IEA	cellular component
GO:0045471	response to ethanol	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0009617	response to bacterium	IEA	biological process
GO:0006979	response to oxidative stress	IEA	biological process
GO:0016791	phosphatase activity	IEA	molecular function
GO:0016151	nickel cation binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016311	dephosphorylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00910	Nitrogen metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881