CA10 carbonic anhydrase 10 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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].
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH124024 (e-PCR)
- UniSTS:135432

RH91156 (e-PCR)
- UniSTS:91927

D17S956 (e-PCR), detects polymorphism
- UniSTS:15386

D17S2122 (e-PCR)
- UniSTS:46939

SHGC-81490 (e-PCR)
- UniSTS:103520

G60320 (e-PCR)
- UniSTS:137576

A002U30 (e-PCR)
- UniSTS:77423

SHGC-62998 (e-PCR)
- UniSTS:95382

D17S1388E (e-PCR)
- UniSTS:67229

A008O45 (e-PCR)
- UniSTS:67742

WI-22496 (e-PCR)
- UniSTS:82601

D17S809 (e-PCR)
- UniSTS:21933

D17S941 (e-PCR), detects polymorphism
- UniSTS:29135

D17S1820 (e-PCR), detects polymorphism
- UniSTS:28131

D17S809 (e-PCR)
- UniSTS:52463

SHGC-133050 (e-PCR)
- UniSTS:170994

RH11759 (e-PCR)
- UniSTS:75006

STS-N26826 (e-PCR)
- UniSTS:5119

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)

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 ...
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 ...
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 ...