U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 11238, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CA5B in Genome Data Viewer
    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_000023.11Genomic Context describing neighboring genes Neighboring gene collectrin, amino acid transport regulator Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:15693246-15693864 Neighboring gene CA5BP1-CA5B readthrough Neighboring gene carbonic anhydrase 5B pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chrX:15713069-15713611 Neighboring gene small nucleolar RNA SNORA7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20673 Neighboring gene NANOG hESC enhancer GRCh37_chrX:15765293-15766154 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:15770987-15771772 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:15787311-15788154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:15809593-15810094 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 ATAC-STARR-seq lymphoblastoid silent region 20674 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:15872970-15873574

    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

    Clone Names

    • MGC39962

    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 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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      A8K4T5, Q9Y2D0
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      15321214..15371343
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)