CA13 carbonic anhydrase 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CA13provided by HGNC
Official Full Name: carbonic anhydrase 13provided by HGNC
Primary source: HGNC:HGNC:14914
See related: Ensembl:ENSG00000185015 MIM:611436; AllianceGenome:HGNC:14914
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CAXIII
Summary: Predicted to enable carbonate dehydratase activity. Predicted to be involved in one-carbon metabolic process. Predicted to be located in intracellular membrane-bounded organelle and myelin sheath. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in small intestine (RPKM 7.8), duodenum (RPKM 6.3) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q21.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (85245458..85284073)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (85684055..85722800)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (86157687..86196302)

Chromosome 8 - NC_000008.11 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 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 13 suppresses bone metastasis in breast cancer.
Title: Carbonic anhydrase 13 suppresses bone metastasis in breast cancer.
investigation of residues modulating the catalytic features of one of the least investigated cytosolic isoform, hCA XIII; results showed that residues assisting the formation of an ordered solvent network within the catalytic site as well as those forming a histidine cluster on the protein surface are important to guarantee an efficient proton transfer
Title: Exploration of the residues modulating the catalytic features of human carbonic anhydrase XIII by a site-specific mutagenesis approach.
Cytosolic carbonic anhydrase XIII may have a role in maintaining the acid-base balance in the kidney and the gastrointestinal and reproductive tracts. [review]
Title: Recent advances in research on the most novel carbonic anhydrases, CA XIII and XV.
cytosolic CA I, II, and XIII are downregulated in neoplastic colorectal mucosa compared to normal colorectal mucosa
Title: Expression of a novel carbonic anhydrase, CA XIII, in normal and neoplastic colorectal mucosa.
a unique and widespread distribution pattern for CA XIII compared with the other cytosolic CA isozymes. May play important physiological roles in several organs
Title: Characterization of CA XIII, a novel member of the carbonic anhydrase isozyme family.

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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
Genome-wide association study identifies loci affecting blood copper, selenium and zinc. 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

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

D22S296 (e-PCR)
- UniSTS:147641

WI-16869 (e-PCR)
- UniSTS:31187

RH99059 (e-PCR)
- UniSTS:83937

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbonate dehydratase activity	IBA Inferred from Biological aspect of Ancestor more info
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 one-carbon metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IEA Inferred from Electronic Annotation more info
located_in myelin sheath	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: carbonic anhydrase 13

Names: CA-XIII; carbonate dehydratase XIII; carbonic anhydrase XIII

NP_940986.1

EC 4.2.1.1

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)

NM_198584.3 → NP_940986.1 carbonic anhydrase 13

See identical proteins and their annotated locations for NP_940986.1

Status: VALIDATED

Source sequence(s)

AC011773, AK095314, BC052602, DB287770

Consensus CDS

CCDS6236.1

UniProtKB/Swiss-Prot

Q8N1Q1

Related

ENSP00000318912.3, ENST00000321764.4

Conserved Domains (1) summary

cd03119
Location:2 → 261

alpha_CA_I_II_III_XIII; Carbonic anhydrase alpha, isozymes I, II, and III and XIII. 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 ...