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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

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