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    CA14 carbonic anhydrase 14 [ Homo sapiens (human) ]

    Gene ID: 23632, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CA14provided by HGNC
    Official Full Name
    carbonic anhydrase 14provided by HGNC
    Primary source
    HGNC:HGNC:1372
    See related
    Ensembl:ENSG00000118298 MIM:604832; AllianceGenome:HGNC:1372
    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
    CAXiV
    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. CA XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 3.3), skin (RPKM 1.4) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CA14 in Genome Data Viewer
    Location:
    1q21.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (150257774..150265078)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (149382687..149389995)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150230169..150237478)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene acidic nuclear phosphoprotein 32 family member E Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1676 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150208844-150209411 Neighboring gene RNA, U2 small nuclear 17, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150228359-150229053 Neighboring gene small nucleolar RNA, C/D box 13C Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:150241516-150242127 Neighboring gene uncharacterized LOC124904414 Neighboring gene aph-1 homolog A, gamma-secretase subunit Neighboring gene chromosome 1 open reading frame 54 Neighboring gene Sharpr-MPRA regulatory region 3157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1679 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:150254031-150255230

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Expression of membrane-associated carbonic anhydrase XIV on neurons and axons in mouse and human brain. Parkkila S, et al. Proc Natl Acad Sci U S A, 2001 Feb 13. PMID 11172051, Free PMC Article
    2. The structural comparison between membrane-associated human carbonic anhydrases provides insights into drug design of selective inhibitors. Alterio V, et al. Biopolymers, 2014 Jul. PMID 24374484
    3. Carbonic anhydrase XIV: luminal expression suggests key role in renal acidification. Kaunisto K, et al. Kidney Int, 2002 Jun. PMID 12028451
    4. Human skeletal muscle and erythrocyte proteins involved in acid-base homeostasis: adaptations to chronic hypoxia. Juel C, et al. J Physiol, 2003 Apr 15. PMID 12611920, Free PMC Article
    5. Human carbonic anhydrase XIV (CA14): cDNA cloning, mRNA expression, and mapping to chromosome 1. Fujikawa-Adachi K, et al. Genomics, 1999 Oct 1. PMID 10512682

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data indicate that carbonic anhydrase isoform XIV (hCA XIV) shows high sequence identity with the other membrane-associated carbonic anhydrases (hCAs).
      Title: The structural comparison between membrane-associated human carbonic anhydrases provides insights into drug design of selective inhibitors.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Results indicate that some derivatives showed potent hCA IX and hCA XIV inhibitory effects at nanomolar concentrations as well as low affinity for the ubiquitous hCA II.
      Title: Identification of 3,4-Dihydroisoquinoline-2(1H)-sulfonamides as potent carbonic anhydrase inhibitors: synthesis, biological evaluation, and enzyme--ligand X-ray studies.
    4. No mutation was found in the coding regions and intron-exon boundaries of the genes for CA II, CA IV, CA XIV, kNCB1, NHE3, NHE8, NHRF1, NHRF2 and SLC26A6 amplified from genomic DNA of family members with pRTA.
      Title: Familial pure proximal renal tubular acidosis--a clinical and genetic study.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbonate dehydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    carbonic anhydrase 14
    Names
    CA-XIV
    carbonate dehydratase XIV
    carbonic anhydrase XIV
    carbonic dehydratase
    NP_036245.1
    XP_005245116.1
    XP_005245117.1
    XP_006711322.1
    XP_006711324.1
    XP_011507681.1
    XP_016856383.1
    XP_054191705.1
    XP_054191706.1
    XP_054191707.1
    XP_054191708.1
    XP_054191709.1
    XP_054191710.1

    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.

    mRNA and Protein(s)

    1. NM_012113.3 → NP_036245.1  carbonic anhydrase 14 precursor

      See identical proteins and their annotated locations for NP_036245.1

      Status: REVIEWED

      Source sequence(s)
      AB025904, AK315469, BP361793
      Consensus CDS
      CCDS947.1
      UniProtKB/Swiss-Prot
      Q5TB24, Q8NCF4, Q9ULX7
      UniProtKB/TrEMBL
      A8K3J4
      Related
      ENSP00000358107.3, ENST00000369111.9
      Conserved Domains (1) summary
      cd03126
      Location:29 → 278
      alpha_CA_XII_XIV; Carbonic anhydrase alpha, isozymes XII and XIV. 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 dioxide, ...

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      150257774..150265078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509379.4 → XP_011507681.1  carbonic anhydrase 14 isoform X2

      Conserved Domains (2) summary
      cl00012
      Location:50 → 264
      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 ...
      cl23791
      Location:277 → 308
      UPF0154; uncharacterized protein family (UPF0154)

    2. XM_005245060.4 → XP_005245117.1  carbonic anhydrase 14 isoform X3

      Conserved Domains (1) summary
      cd03126
      Location:29 → 278
      alpha_CA_XII_XIV; Carbonic anhydrase alpha, isozymes XII and XIV. 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 dioxide, ...

    3. XM_005245059.4 → XP_005245116.1  carbonic anhydrase 14 isoform X1

      See identical proteins and their annotated locations for XP_005245116.1

      Conserved Domains (1) summary
      cd03126
      Location:29 → 278
      alpha_CA_XII_XIV; Carbonic anhydrase alpha, isozymes XII and XIV. 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 dioxide, ...

    4. XM_006711259.4 → XP_006711322.1  carbonic anhydrase 14 isoform X4

      Conserved Domains (1) summary
      cd03126
      Location:29 → 278
      alpha_CA_XII_XIV; Carbonic anhydrase alpha, isozymes XII and XIV. 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 dioxide, ...

    5. XM_017000894.3 → XP_016856383.1  carbonic anhydrase 14 isoform X6

    6. XM_006711261.4 → XP_006711324.1  carbonic anhydrase 14 isoform X5

      Conserved Domains (2) summary
      cl00012
      Location:8 → 222
      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 ...
      cl23791
      Location:235 → 266
      UPF0154; uncharacterized protein family (UPF0154)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      149382687..149389995
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335731.1 → XP_054191706.1  carbonic anhydrase 14 isoform X2

    2. XM_054335732.1 → XP_054191707.1  carbonic anhydrase 14 isoform X3

    3. XM_054335730.1 → XP_054191705.1  carbonic anhydrase 14 isoform X1

    4. XM_054335733.1 → XP_054191708.1  carbonic anhydrase 14 isoform X4

    5. XM_054335735.1 → XP_054191710.1  carbonic anhydrase 14 isoform X6

    6. XM_054335734.1 → XP_054191709.1  carbonic anhydrase 14 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULX7.1 GenPept UniProtKB/Swiss-Prot:Q9ULX7

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