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    CA10 carbonic anhydrase 10 [ Homo sapiens (human) ]

    Gene ID: 56934, updated on 14-Nov-2024

    Summary

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    Official Symbol
    CA10provided by HGNC
    Official Full Name
    carbonic anhydrase 10provided by HGNC
    Primary source
    HGNC:HGNC:1369
    See related
    Ensembl:ENSG00000154975 MIM:604642; AllianceGenome:HGNC:1369
    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
    CARPX; CA-RPX; HUCEP-15
    Summary
    This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 15.3), kidney (RPKM 2.4) and 2 other tissues See more
    Orthologs
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    Genomic context

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    See CA10 in Genome Data Viewer
    Location:
    17q21.33-q22
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (51630313..52160023, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (52497937..53027747, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (49707674..50237383, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2073 Neighboring gene ribosomal protein L7 pseudogene 48 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:49675964-49676711 Neighboring gene carbonic anhydrase 10 repeat instability region Neighboring gene MPRA-validated peak2891 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:50104733-50105932 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:50133703-50133855 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:50197634-50198833 Neighboring gene Sharpr-MPRA regulatory region 175 Neighboring gene uncharacterized LOC105371829 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:50486474-50487018 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:50487019-50487562 Neighboring gene long intergenic non-protein coding RNA 1982 Neighboring gene NANOG hESC enhancer GRCh37_chr17:50528526-50529375

    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 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. Carbonic anhydrases: current state of the art, therapeutic applications and future prospects. Pastorekova S, et al. J Enzyme Inhib Med Chem, 2004 Jun. PMID 15499993
    2. Designing of novel carbonic anhydrase inhibitors and activators. Supuran CT, et al. Curr Med Chem Cardiovasc Hematol Agents, 2004 Jan. PMID 15328829
    3. Carbonic anhydrase inhibitors. Supuran CT, et al. Med Res Rev, 2003 Mar. PMID 12500287
    4. Carbonic anhydrase 10 functions as a tumor suppressor in renal cell carcinoma and its methylation is a risk factor for survival outcome. Li Q, et al. Urol Oncol, 2022 Apr. PMID 34980544
    5. Functional diversity, conservation, and convergence in the evolution of the alpha-, beta-, and gamma-carbonic anhydrase gene families. Hewett-Emmett D, et al. Mol Phylogenet Evol, 1996 Feb. PMID 8673298

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Carbonic anhydrase 10 functions as a tumor suppressor in renal cell carcinoma and its methylation is a risk factor for survival outcome.
      Title: Carbonic anhydrase 10 functions as a tumor suppressor in renal cell carcinoma and its methylation is a risk factor for survival outcome.
    2. Glycolysis, via NADH-dependent dimerisation of CtBPs, regulates hypoxia-induced expression of CAIX and stem-like breast cancer cell survival.
      Title: Glycolysis, via NADH-dependent dimerisation of CtBPs, regulates hypoxia-induced expression of CAIX and stem-like breast cancer cell survival.
    3. Methylation of WT1, CA10 in peripheral blood leukocyte is associated with breast cancer risk: a case-control study.
      Title: Methylation of WT1, CA10 in peripheral blood leukocyte is associated with breast cancer risk: a case-control study.
    4. results suggest that CA11 and CA10 negatively regulate neuronal activity-dependent glioma growth and inhibit glioma aggression. Thus, CA11/CA10 may represent a potential therapeutic target for the treatment of gliomas.
      Title: CA10 and CA11 negatively regulate neuronal activity-dependent growth of gliomas.
    5. CA10 directly binds in a cis configuration to a conserved membrane-proximal, extracellular sequence of alpha- and beta-neurexins.
      Title: Carbonic anhydrase-related protein CA10 is an evolutionarily conserved pan-neurexin ligand.
    6. Total heterogeneous methylation of CA10 conferred a significantly higher risk of Colorectal Cancer.The gene methylation status of blood leukocytes may be associated with CRC risk.
      Title: Methylation Status of Transcriptional Modulatory Genes Associated with Colorectal Cancer in Northeast China.
    7. The changes in the ratios of mRNA levels and the respective proteins (HIF-1alpha, HIF-2, NF-kB, VEGF, VEGFR2, and carboanhydrase IX) may contribute to kidney-cancer metastasis.
      Title: [Transcription factors NF-kB, HIF-1, HIF-2, growth factor VEGF, VEGFR2 and carboanhydrase IX mRNA and protein level in the development of kidney cancer metastasis].
    8. Two African-ancestry specific variants were found to be significantly associated with metabolic syndrome S: SNP rs73989312[A] near CA10 that conferred increased risk; and SNP rs77244975[C] in CTNNA3 that conferred protection against this disease.
      Title: Genome-wide association study identifies African-ancestry specific variants for metabolic syndrome.
    9. Copy number deletion on CA10 was associated with a 1.69-fold decreased risk for osteoarthritis.
      Title: A genome-wide association study of copy-number variation identifies putative loci associated with osteoarthritis in Koreans.
    10. our results suggest that genes CA10 and also SGK493 may be an important risk factor for asthma development, especially for a nonatopic phenotype.
      Title: Polymorphisms in recent GWA identified asthma genes CA10, SGK493, and CTNNA3 are associated with disease severity and treatment response in childhood asthma.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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
    Epidemiological and genome-wide association study of gastritis or gastric ulcer in korean populations.
    EBI GWAS Catalog
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    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)

    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydro-lyase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in brain development NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    carbonic anhydrase-related protein 10
    Names
    CA-RP X
    CARP X
    carbonic anhydrase X
    carbonic anhydrase-related protein X
    cerebral protein-15
    epididymis secretory sperm binding protein

    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_001082533.1 → NP_001076002.1  carbonic anhydrase-related protein 10 precursor

      See identical proteins and their annotated locations for NP_001076002.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC005883, AW135066, BC047456, DA110822
      Consensus CDS
      CCDS32684.1
      UniProtKB/Swiss-Prot
      B2R7J0, B4DGL6, Q9NS85
      UniProtKB/TrEMBL
      A0A384MTY8, Q68D28
      Related
      ENSP00000285273.4, ENST00000285273.8
      Conserved Domains (1) summary
      cd03121
      Location:46 → 302
      alpha_CARP_X_XI_like; Carbonic anhydrase alpha related protein: groups X, XI and related proteins. This subgroup contains carbonic anhydrase related proteins (CARPs) X and XI, which have been implicated in various biological processes of the central nervous system. CARPs are ...

    2. NM_001082534.2 → NP_001076003.1  carbonic anhydrase-related protein 10 precursor

      See identical proteins and their annotated locations for NP_001076003.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC005883, AC092713, AF288385, AW135066, DA518921
      Consensus CDS
      CCDS32684.1
      UniProtKB/Swiss-Prot
      B2R7J0, B4DGL6, Q9NS85
      UniProtKB/TrEMBL
      A0A384MTY8, Q68D28
      Related
      ENSP00000390666.2, ENST00000442502.6
      Conserved Domains (1) summary
      cd03121
      Location:46 → 302
      alpha_CARP_X_XI_like; Carbonic anhydrase alpha related protein: groups X, XI and related proteins. This subgroup contains carbonic anhydrase related proteins (CARPs) X and XI, which have been implicated in various biological processes of the central nervous system. CARPs are ...

    3. NM_020178.5 → NP_064563.1  carbonic anhydrase-related protein 10 precursor

      See identical proteins and their annotated locations for NP_064563.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC005883, AW135066, BC047456, DA128892
      Consensus CDS
      CCDS32684.1
      UniProtKB/Swiss-Prot
      B2R7J0, B4DGL6, Q9NS85
      UniProtKB/TrEMBL
      A0A384MTY8, Q68D28
      Related
      ENSP00000405388.2, ENST00000451037.7
      Conserved Domains (1) summary
      cd03121
      Location:46 → 302
      alpha_CARP_X_XI_like; Carbonic anhydrase alpha related protein: groups X, XI and related proteins. This subgroup contains carbonic anhydrase related proteins (CARPs) X and XI, which have been implicated in various biological processes of the central nervous system. CARPs are ...

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      51630313..52160023 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      52497937..53027747 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NS85.1 GenPept UniProtKB/Swiss-Prot:Q9NS85

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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