1. Gene
  2. CA5B - carbonic anhydrase 5B Gene

CA5B - carbonic anhydrase 5B Gene

Homo sapiens

Also known as CAVB; CA-VB

Gene ID: 11238 | Gene type: protein coding

About CA5B

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:15,738,270-15,788,411 (from NCBI)

This gene has 10 transcripts (splice variants), 218 orthologues and 14 paralogues. Broad expression in testis (RPKM 4.8), ovary (RPKM 2.8) and 24 other tissues.

Summary

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, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes Carbonic Anhydrase 5B. CA5B, and the related CA5A gene, has its expression localized in the mitochondria though CA5B has a wider tissue distribution than CA5A, which is restricted to the liver, kidneys, and skeletal muscle. A Carbonic Anhydrase pseudogene (CA5BP1) is adjacent to the CA5B gene and these two loci produce CA5BP1-CA5B readthrough transcripts. [provided by RefSeq, Jan 2019]

CA5B Products(1)

mRNA Protein Name
NM_007220.4 NP_009151.1 carbonic anhydrase 5B, mitochondrial precursor
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables carbonate dehydratase activity IDA
IDA: Inferred from direct assay
10409679 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrion IDA
IDA: Inferred from direct assay
10409679 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CA5B Protein Structure

Carb_anhydrase

Carb_anhydrase: Eukaryotic-type carbonic anhydrase (43 - 296)

  • 0
  • 100
  • 200
  • 317 a.a.
Protein Preferred Names Protein Names

carbonic anhydrase 5B, mitochondrial

carbonate dehydratase VB

CA5B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
CA5B Q9Y2D0 DBT Homo sapiens P11182
Anti Tag CoIP
28514442
Intra
CA5B Q9Y2D0 DBT Homo sapiens P11182
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CA5B Proteins

Cat. No. Product Name Accession Purity
HY-P7721 Carbonic Anhydrase 5B Protein, Human (His) Q9Y2D0 (C34-P317) ≥95%

Related Diseases

Diseases Alias
Carbonic Anhydrase Va Deficiency

Hyperammonemic Encephalopathy Due To Carbonic Anhydrase Va Deficiency

Ca-Va Deficiency

Hyperammonemia Due To Carbonic Anhydrase Va Deficiency

Mitochondrial Carbonic Anhydrase Va Deficiency

Ca5ad

Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To

Intracranial Hypertension, Idiopathic

Pseudotumor Cerebri

Idiopathic Intracranial Hypertension

Benign Intracranial Hypertension

Iih

Benign Intracran. Hypt.

External Ear Disease

Diseases Of External Ear

Preauricular Cyst

Preauricular Sinus And Fistula

Preauricular Sinus Or Fistula

Enamel Erosion
Otitis Externa

Swimmer'S Ear

Infective Otitis Externa

Acute Infective Otitis Externa

Seborrheic Dermatitis

Seborrhoeic Dermatitis

Seborrhea

Seborrhoeic Eczema

Skin Seborrheic

Dermatitis, Seborrheic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus CA5B MGD MGI:1926249
Macaca mulatta CA5B VGNC VGNC:70492
Canis familiaris CA5B VGNC VGNC:38613
Bos taurus CA5B VGNC VGNC:26655
Rattus norvegicus CA5B RGD RGD:1549783
Felis catus CA5B VGNC VGNC:60276
Others CA5B NCBI