CA5B carbonic anhydrase 5B [Homo sapiens (human)] - Gene

Summary

Official Symbol: CA5Bprovided by HGNC
Official Full Name: carbonic anhydrase 5Bprovided by HGNC
Primary source: HGNC:HGNC:1378
See related: Ensembl:ENSG00000169239 MIM:300230; AllianceGenome:HGNC:1378
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CAVB; CA-VB
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]
Expression: Broad expression in testis (RPKM 4.8), ovary (RPKM 2.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp22.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (15738270..15788411)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (15321214..15371343)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (15756393..15806534)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease.
Title: Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease.
In 10 of 96 patients, mutations in CA5A were identified on both alleles but none in CA5B. Exhibiting decreased enzyme activity or thermal stability, all CAVA mutations were proven to cause disease, whereas the three variants showed no relevant effect
Title: Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.
activators enhanced kcat, with no effect on KM, favoring the RDS in the catalytic cycle; the activation pattern of the two mitochondrial isoforms is very different from each other and as compared to those of the cytosolic isoforms hCA I and II.
Title: Carbonic anhydrase activators: an activation study of the human mitochondrial isoforms VA and VB with amino acids and amines.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:9484

D10S275 (e-PCR)
- UniSTS:147992

DXS6753 (e-PCR)
- UniSTS:42275

L17739 (e-PCR)
- UniSTS:71472

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

G24103 (e-PCR)
- UniSTS:23652

DXS1351 (e-PCR)
- UniSTS:98925

DXS1292 (e-PCR)
- UniSTS:99694

G35510 (e-PCR)
- UniSTS:44150

D11S3114 (e-PCR)
- UniSTS:152207

Cda1bf09 (e-PCR)
- UniSTS:87453

G44365 (e-PCR)
- UniSTS:95151

G31008 (e-PCR)
- UniSTS:71625

RH47691 (e-PCR)
- UniSTS:19152

GDB:631802 (e-PCR)
- UniSTS:158429

Readthrough CA5BP1-CA5B

Readthrough gene: CA5BP1-CA5B, Included gene: CA5BP1

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbonate dehydratase activity	IBA Inferred from Biological aspect of Ancestor more info
enables carbonate dehydratase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: carbonic anhydrase 5B, mitochondrial

Names: carbonate dehydratase VB; carbonic anhydrase VB, mitochondrial; carbonic dehydratase

NP_009151.1

EC 4.2.1.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012766.1 RefSeqGene

Range

4982..55123

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_007220.4 → NP_009151.1 carbonic anhydrase 5B, mitochondrial precursor

See identical proteins and their annotated locations for NP_009151.1

Status: REVIEWED

Source sequence(s)

AB021660, AC096510, AC112497, BP371510

Consensus CDS

CCDS14171.1

UniProtKB/Swiss-Prot

A8K4T5, Q9Y2D0

Related

ENSP00000314099.3, ENST00000318636.8

Conserved Domains (1) summary

cl00012
Location:61 → 296

alpha_CA; Carbonic anhydrase alpha (vertebrate-like) group. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...