• Gene id: 762

Gene Summary

• Gene Symbol: CA4   Gene   UCSC   Ensembl
• Aliases: CAIV, Car4, RP17
• Gene name: carbonic anhydrase 4
• Alternate names: carbonic anhydrase 4, CA-IV, carbonate dehydratase IV, carbonic anhydrase IV, carbonic dehydratase IV,
• Gene location: 17q23.1 (60149941: 60179020)     Exons: 13     NC_000017.11
• 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: 610598

SNPs

rs28362491

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000004.12   g.102500998_102501001ATTG[1]
NC_000004.11   g.103422155_103422158ATTG[1]
NG_050628.1   g.4670_4673ATTG[1]|SEQ=[ATTG/-]|GENE=NFKB1
LOC105377621   105377621

Protein Summary

• Protein general information: P22748  
  • Name: Carbonic anhydrase 4 (EC 4.2.1.1) (Carbonate dehydratase IV) (Carbonic anhydrase IV) (CA IV)
  • Length: 312  
  • Mass: 35032
  • Tissue specificity: Expressed in the endothelium of the choriocapillaris in eyes (at protein level). Not expressed in the retinal epithelium at detectable levels. {ECO
• Sequence:

  MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRFFFSGY
  DKKQTWTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTS
  RNVKEAQDPEDEIAVLAFLVEAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYFRYLGSLT
  TPTCDEKVVWTVFREPIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALPALLG
  PMLACLLAGFLR

• Structural information:
  • Protein Domains: (21..28-)
    (/note="Alpha-carbonic-anhydrase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01134"-)
  • Interpro: IPR041874  IPR001148  IPR036398  IPR023561  IPR018338   IPR018343  
  • Prosite: PS00162 PS51144
  • CDD: cd03117
  • PDB: 1ZNC 3F7B 3F7U 3FW3 5IPZ 5JN8 5JN9 5JNA 5JNC 5KU6
  • PDBsum: 1ZNC 3F7B 3F7U 3FW3 5IPZ 5JN8 5JN9 5JNA 5JNC 5KU6
  • STRING: ENSP00000300900
• Other Databases: GeneCards:  CA4  Malacards:  CA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004089	carbonate dehydratase activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0016836	hydro-lyase activity	IBA	molecular function
GO:0006730	one-carbon metabolic process	IBA	biological process
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IDA	cellular component
GO:0005791	rough endoplasmic reticulum	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	NOT|cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0015701	bicarbonate transport	IMP	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0030658	transport vesicle membrane	IDA	cellular component
GO:0030667	secretory granule membrane	IDA	cellular component
GO:0031526	brush border membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0031362	anchored component of external side of plasma membrane	IDA	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0016829	lyase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0016020	membrane	TAS	cellular component
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0015701	bicarbonate transport	TAS	biological process
GO:0015701	bicarbonate transport	TAS	biological process
GO:0015701	bicarbonate transport	TAS	biological process
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0046658	anchored component of plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04964	Proximal tubule bicarbonate reclamation
hsa00910	Nitrogen metabolism

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	PMID:15090652
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