Car5a carbonic anhydrase 5a, mitochondrial [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Car5aprovided by MGI
Official Full Name: carbonic anhydrase 5a, mitochondrialprovided by MGI
Primary source: MGI:MGI:101946
See related: Ensembl:ENSMUSG00000025317 AllianceGenome:MGI:101946
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CAV; Ca5a; Car5
Summary: Enables carbonate dehydratase activity. Predicted to be involved in one-carbon metabolic process. Predicted to act upstream of or within gluconeogenesis. Located in mitochondrion. Orthologous to human CA5A (carbonic anhydrase 5A). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver adult (RPKM 83.4), kidney adult (RPKM 5.1) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 8 E1; 8 70.81 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (122642874..122671651, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (121916135..121944912, complement)

Chromosome 8 - NC_000074.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

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 this report, genetic knockdown and overexpression studies confirm that mitochondrial CA VA regulates respiration in pericytes, whereas mitochondrial CA VB does not contribute significantly. Identification of mitochondrial CA VA as a sole regulator of respiration provides a specific target to develop new drugs with fewer side effects that may be better tolerated and can protect the brain from diabetic injury.
Title: Regulation of high glucose-induced apoptosis of brain pericytes by mitochondrial CA VA: A specific target for prevention of diabetic cerebrovascular pathology.
both Car5A and Car5B contribute to both ammonia detoxification (ureagenesis) and regulation of fasting blood sugar (gluconeogenesis).
Title: Targeted mutagenesis of mitochondrial carbonic anhydrases VA and VB implicates both enzymes in ammonia detoxification and glucose metabolism.
determination of crystal structure
Title: Crystal structure of F65A/Y131C-methylimidazole carbonic anhydrase V reveals architectural features of an engineered proton shuttle.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1) 1 citation
Targeted (1) 1 citation

General gene information

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Markers

Car5a (e-PCR), detects polymorphism
- UniSTS:506774

Car5a (e-PCR), detects polymorphism
- UniSTS:141226

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables carbonate dehydratase activity	IBA Inferred from Biological aspect of Ancestor more info
enables carbonate dehydratase activity	IDA Inferred from Direct Assay more info	PubMed
enables carbonate dehydratase activity	ISO Inferred from Sequence Orthology more info
enables lyase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within gluconeogenesis	TAS Traceable Author Statement more info	PubMed
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
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: carbonic anhydrase 5A, mitochondrial

Names: CA Y; CA-VA; carbonate dehydratase VA; carbonic anhydrase 5, mitochondrial; carbonic anhydrase 5b, mitochondrial; carbonic anhydrase VA

NP_031634.2

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_007608.2 → NP_031634.2 carbonic anhydrase 5A, mitochondrial precursor

See identical proteins and their annotated locations for NP_031634.2

Status: VALIDATED

Source sequence(s)

AI098626, AI132225, AI314393, AI314492, AI527458

Consensus CDS

CCDS22731.1

UniProtKB/Swiss-Prot

P23589

Related

ENSMUSP00000060457.8, ENSMUST00000057653.8

Conserved Domains (1) summary

cd03118
Location:55 → 290

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 ...