InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CA4

Summary

InnateDB Protein

IDBP-62163.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CA4

Protein Name

carbonic anhydrase IV

Synonyms

CAIV; Car4; RP17;

Species

Homo sapiens

Ensembl Protein

ENSP00000300900

InnateDB Gene

IDBG-62161 (CA4)

Protein Structure

UniProt Annotation

Function

Reversible hydration of carbon dioxide. May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis. It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid. {ECO:0000269PubMed:15563508}.

Subcellular Localization

Cell membrane; Lipid-anchor, GPI-anchor.

Disease Associations

Retinitis pigmentosa 17 (RP17) [MIM:600852]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:15563508}. Note=The disease is caused by mutations affecting the gene represented in this entry. Defective acid overload removal from retina and retinal epithelium, due to mutant CA4, is responsible for photoreceptor degeneration, indicating that impaired pH homeostasis is the most likely cause underlying the RP17 phenotype.

Tissue Specificity

Expressed in the endothelium of the choriocapillaris in eyes (at protein level). Not expressed in the retinal epithelium at detectable levels. {ECO:0000269PubMed:15563508}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004089	carbonate dehydratase activity
GO:0005515	protein binding
GO:0008270	zinc ion binding

Biological Process

GO:0006730	one-carbon metabolic process
GO:0008152	metabolic process
GO:0015701	bicarbonate transport
GO:0042493	response to drug
GO:0044281	small molecule metabolic process
GO:0048513	organ development
GO:0048545	response to steroid hormone

Cellular Component

GO:0005791	rough endoplasmic reticulum
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment
GO:0005794	Golgi apparatus
GO:0005802	trans-Golgi network
GO:0005886	plasma membrane
GO:0009986	cell surface
GO:0016020	membrane
GO:0016324	apical plasma membrane
GO:0016529	sarcoplasmic reticulum
GO:0030658	transport vesicle membrane
GO:0030667	secretory granule membrane
GO:0031362	anchored component of external side of plasma membrane
GO:0031526	brush border membrane
GO:0042383	sarcolemma
GO:0046658	anchored component of plasma membrane
GO:0048471	perinuclear region of cytoplasm
GO:0070062	extracellular vesicular exosome