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

Gene ID: 11238, updated on 4-Jun-2020

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
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

Genomic context

See CA5B in Genome Data Viewer
Location:
Xp22.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (15738270..15788411)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (15756412..15805748)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene collectrin, amino acid transport regulator Neighboring gene nonconserved acetylation island sequence 104 enhancer Neighboring gene CA5BP1-CA5B readthrough Neighboring gene carbonic anhydrase 5B pseudogene 1 Neighboring gene inactivation escape 2 Neighboring gene zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 Neighboring gene adaptor related protein complex 1 subunit sigma 2 Neighboring gene RNA, U5F small nuclear 7, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC39962

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbonate dehydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hydro-lyase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
bicarbonate transport TAS
Traceable Author Statement
more info
 
one-carbon metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
carbonic anhydrase 5B, mitochondrial
Names
carbonate dehydratase VB
carbonic anhydrase VB, mitochondrial
carbonic dehydratase
NP_009151.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_012766.1 RefSeqGene

    Range
    4982..55123
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_007220.4NP_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
    Q9Y2D0
    UniProtKB/TrEMBL
    A0A024RBW9
    Related
    ENSP00000314099.3, ENST00000318636.8
    Conserved Domains (1) summary
    cl00012
    Location:61296
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    15738270..15788411
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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