CA5A carbonic anhydrase 5A [Homo sapiens (human)] - Gene

Summary

Official Symbol: CA5Aprovided by HGNC
Official Full Name: carbonic anhydrase 5Aprovided by HGNC
Primary source: HGNC:HGNC:1377
See related: Ensembl:ENSG00000174990 MIM:114761; AllianceGenome:HGNC:1377
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: CA5; CAV; CAVA; CA5AD; GS1-21A4.1
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 VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward liver (RPKM 2.8) See more
Orthologs: mouse all
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Genomic context

Location:: 16q24.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (87881549..87936529, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (93954203..94009111, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (87915155..87970135, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease.
Title: Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease.
In 10 of 96 patients, mutations in CA5A were identified on both alleles but none in CA5B. Exhibiting decreased enzyme activity or thermal stability, all CAVA mutations were proven to cause disease, whereas the three variants showed no relevant effect
Title: Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.
CA5A alterations cause hyperammonemia in early childhood that result in mitochondrial carbonic anhydrase VA deficiency
Title: Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
activators enhanced kcat, with no effect on KM, favoring the RDS in the catalytic cycle; the activation pattern of the two mitochondrial isoforms is very different from each other and as compared to those of the cytosolic isoforms hCA I and II.
Title: Carbonic anhydrase activators: an activation study of the human mitochondrial isoforms VA and VB with amino acids and amines.

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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

Associated conditions

Description	Tests
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MedGen: C3810404 OMIM: 615751 GeneReviews: Carbonic Anhydrase VA Deficiency	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	FITC-labeled Tat 47-59 peptide downregulates gene expression of carbonic anhydrase VA, mitochondrial (CA5A) in U-937 macrophages	PubMed

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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

NoName (e-PCR)
- UniSTS:481316

SHGC-64110 (e-PCR)
- UniSTS:58438

RH70394 (e-PCR)
- UniSTS:32423

RH71359 (e-PCR)
- UniSTS:89774

SHGC-144370 (e-PCR)
- UniSTS:172216

SHGC-78863 (e-PCR)
- UniSTS:100841

NoName (e-PCR)
- UniSTS:483825

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbonate dehydratase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables carbonate dehydratase activity	IDA Inferred from Direct Assay more info	PubMed
enables carbonate dehydratase activity	IMP Inferred from Mutant Phenotype 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	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: carbonic anhydrase 5A, mitochondrial

Names: CA-VA; carbonate dehydratase VA; carbonic anhydrase V, mitochondrial; carbonic anhydrase VA, mitochondrial; carbonic dehydratase

NP_001354154.1

EC 4.2.1.1

NP_001730.1

EC 4.2.1.1

XP_005256191.1

EC 4.2.1.1

XP_047290550.1

EC 4.2.1.1

XP_047290551.1

EC 4.2.1.1

XP_054169825.1

EC 4.2.1.1

XP_054169826.1

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.

Genomic

NG_033227.2 RefSeqGene

Range

5001..53517

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_1280

mRNA and Protein(s)

NM_001367225.1 → NP_001354154.1 carbonic anhydrase 5A, mitochondrial isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' structure, resulting in a novel 3' coding region, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AC127455, AC133539

Consensus CDS

CCDS92202.1

UniProtKB/TrEMBL

A0A3B3IRX9

Related

ENSP00000496993.1, ENST00000649158.1

Conserved Domains (1) summary

cl00012
Location:61 → 258

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 ...
NM_001739.2 → NP_001730.1 carbonic anhydrase 5A, mitochondrial isoform 1 precursor

See identical proteins and their annotated locations for NP_001730.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC133539, BJ996241, L19297

Consensus CDS

CCDS10965.1

UniProtKB/Swiss-Prot

B2RPF2, P35218

Related

ENSP00000498065.2, ENST00000649794.3

Conserved Domains (1) summary

cd03118
Location:61 → 296

alpha_CA_V; Carbonic anhydrase alpha, CA isozyme V_like subgroup. 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 ...

RNA

NR_159798.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC127455, AC133539

Related

ENST00000648022.1
NR_159799.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC127455, AC133539

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

87881549..87936529 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047434595.1 → XP_047290551.1 carbonic anhydrase 5A, mitochondrial isoform X3

Related

ENSP00000497626.1, ENST00000648177.1
XM_047434594.1 → XP_047290550.1 carbonic anhydrase 5A, mitochondrial isoform X2
XM_005256134.5 → XP_005256191.1 carbonic anhydrase 5A, mitochondrial isoform X1

Conserved Domains (1) summary

cl00012
Location:61 → 114

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 ...