Carbonic Anhydrase VIII (CA8)

The carbonic anhydrases (or carbonate dehydratases) are classified as metalloenzyme for its zinc ion prosthetic group and form a family of enzymes that catalyze the rapid interconversion of carbon dioxide and water to bicarbonate and protons, a reversible reaction that takes part in maintaining acid-base balance in blood and other tissues. The carbonic anhydrasekl (CA) family consists of at least 11 enzymatically active members and a few inactive homologous proteins. Carbonic anhydrase protein (CA) VIII, which is a member of the CA gene family, has been shown to have no catalytic CA activity and its biological function is still unknown. Increased expression of CA-RP VIII was observed in 78% of colorectal carcinomas. It suggested that CA-RP VIII plays a role in the process of invasion in colorectal cancer.

Carbonic Anhydrase VIII (CA8) Related Areas

Enzyme>>Carbonic Anhydrase>>Carbonic Anhydrase VIII

Carbonic Anhydrase VIII (CA8) Alternative Names

Carbonic Anhydrase VIII, CA8, CA-VIII, CALS, CAMRQ3, CARP, MGC120502, MGC99509 [Homo sapiens]

Carbonic Anhydrase VIII, Car8, RP23-180H12.1, AW546993, Ca8, Cals, Cals1, Carp, wdl [Mus musculus]

Summaries for Carbonic Anhydrase VIII (CA8)

Entrez Gene summary for Carbonic Anhydrase VIII (CA8):

The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form

OMIM - description for Carbonic Anhydrase VIII (CA8):

The CA8 (CARP) gene encodes carbonic anhydrase VIII, which is part of a family of zinc metalloenzymes. Although CA8 has a central carbonic anhydrase motif, it lacks carbonic anhydrase activity (EC 4.2.1.1) due to absence of catalytic zinc coordinating residues (Kato, 1990). Nonetheless, the gene product was designated carbonic anhydrase VIII by several workers because it showed a clear sequence identity to other members of the carbonic anhydrase gene family from many sources.

Wikipedia summary for Carbonic Anhydrase VIII (CA8):

Carbonic anhydrase-related protein is an enzyme that in humans is encoded by the CA8 gene. The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form.

Human Carbonic Anhydrase VIII (CA8) Protein General Information

 

• Protein names: Recommended name: Carbonic anhydrase-related protein Short name=CARP
• Sequence length: 290 AA.
• Sequence similarities: Belongs to the alpha-carbonic anhydrase family.
• Involvement in disease: Defects in CA8 are the cause of cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]. CMARQ3 is a congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mild mental retardation

General information above from UniProt

Function for Carbonic Anhydrase VIII (CA8) Protein

UniProtKB:

Does not have a carbonic anhydrase catalytic activity.

Genatlas:

• carbonic anhydrase VIII, putatively involved in nerve function
• Carbonic Anhydrase VIII (CA8) reversibly hydrates Co2 in cellular ion transport and pH homeostasis
• Carbonic Anhydrase VIII (CA8) plays roles in various biological process of the CNS
• Carbonic Anhydrase VIII (CA8) plays a role in the growth of colon cancer cells
• autoantigen involved in the pathogenesis of melanoma-associated paraneoplastic cerebellar degeneration

Homology for human Carbonic Anhydrase VIII (CA8)

• ortholog to murine Carp
• homolog to murine Cals1

Phenotype Information for Carbonic Anhydrase VIII (CA8)

• Gene/Locus: CA8, CALS, CARP, CAMRQ3
• Phenotype: Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3

Phenotype Information for Carbonic Anhydrase VIII (CA8) from OMIM (Online Mendelian Inheritance in Man)