Car8 carbonic anhydrase 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Car8provided by MGI
Official Full Name: carbonic anhydrase 8provided by MGI
Primary source: MGI:MGI:88253
See related: Ensembl:ENSMUSG00000041261 AllianceGenome:MGI:88253
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: Ca8; wdl; Cals; Carp; Cals1
Summary: Predicted to enable hydro-lyase activity. Acts upstream of or within positive regulation of calcium-mediated signaling. Located in cytoplasm. Is expressed in several structures, including alimentary system; brain; ear; genitourinary system; and respiratory system. Used to study cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome. Human ortholog(s) of this gene implicated in cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3. Orthologous to human CA8 (carbonic anhydrase 8). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cerebellum adult (RPKM 76.1) and lung adult (RPKM 3.9) See more
Orthologs: human all
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Genomic context

Location:: 4 A1; 4 3.53 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (8141491..8239226, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (8141493..8239041, complement)

Chromosome 4 - NC_000070.7 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 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?

we demonstrate the protective function of CA8 in Machado-Joseph disease models
Title: Protective roles of carbonic anhydrase 8 in Machado-Joseph Disease.
This study demonstrated that the Climbing Fiber Development of cerebellum Is Impaired in Postnatal Car8 (wdl) Mice.
Title: Climbing Fiber Development Is Impaired in Postnatal Car8 (wdl) Mice.
Dorsal root ganglion (DRG) carbonic anhydrase 8 (Car8) expression is variable across 25 naive-inbred strains of mice, and this cis-regulated quantitative trait locus is correlated with nociceptive responses in mice. Mean DRG Car8 gene expression is directly related to the dose of morphine or clonidine needed to provide a half-maximal analgesic response.
Title: Car8 dorsal root ganglion expression and genetic regulation of analgesic responses are associated with a cis-eQTL in mice.
CA8 is a novel important regulator of Purkinje cell dendritic development and that its expression is controlled by PKCgamma activity.
Title: Carbonic Anhydrase 8 Expression in Purkinje Cells Is Controlled by PKCγ Activity and Regulates Purkinje Cell Dendritic Growth.
Car8 regulates inflammatory pain by inhibiting the ITPR1-cytosolic free calcium pathway.
Title: Carbonic anhydrase-8 regulates inflammatory pain by inhibiting the ITPR1-cytosolic free calcium pathway.
Results indicate a widespread disruption in cerebellar circuitry hampering proper neuronal communication in CAR8 mutant mice
Title: Mice deficient in carbonic anhydrase type 8 exhibit motor dysfunctions and abnormal calcium dynamics in the somatic region of cerebellar granule cells.
CA8 overexpression desensitizes neuronal cells to STS induced apoptotic stress and increases cell migration and invasion ability in neuronal cells.
Title: Roles of carbonic anhydrase 8 in neuronal cells and zebrafish.
The datum of this study provide evidence that the CAVIII protein, which is highly conserved in vertebrates, is selectively expressed within neural circuits, and may be important for modulating retinal neurotransmission.
Title: Carbonic anhydrase-related protein VIII is expressed in rod bipolar cells and alters signaling at the rod bipolar to AII-amacrine cell synapse in the mammalian retina.
CAR8 plays a central role in motor control; data indicate that the waddles mouse is a Car8 null mutant.
Title: Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice.
Results describe the tissue distribution of carbonic anhydrase-related proteins VIII, X, and XI and their developmental expression in the murine embryonic brain.
Title: cDNA cloning and developmental expression of murine carbonic anhydrase-related proteins VIII, X, and XI.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

Endonuclease-mediated (2)
Spontaneous (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW546993 (e-PCR)
- UniSTS:178965

X61397 (e-PCR)
- UniSTS:125824

Car8 (e-PCR), detects polymorphism
- UniSTS:506778

AA923902 (e-PCR)
- UniSTS:226205

Car8 (e-PCR), detects polymorphism
- UniSTS:478944

Gene Ontology Provided by MGI

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 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
acts_upstream_of_or_within positive regulation of calcium-mediated signaling	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: carbonic anhydrase-related protein

Names: CA-RP VIII; CA-VIII; carbonic anhydrase VIII; carbonic anhydrase-like sequence 1

NP_001406892.1

EC 4.2.1.1

NP_031618.2

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_001419963.1 → NP_001406892.1 carbonic anhydrase-related protein

Status: VALIDATED

Source sequence(s)

AL772336

UniProtKB/Swiss-Prot

P28651, Q8CF58, Q91XF6
NM_007592.4 → NP_031618.2 carbonic anhydrase-related protein

See identical proteins and their annotated locations for NP_031618.2

Status: VALIDATED

Source sequence(s)

AL772336

Consensus CDS

CCDS17954.1

UniProtKB/Swiss-Prot

P28651, Q8CF58, Q91XF6

Related

ENSMUSP00000063511.7, ENSMUST00000066674.8

Conserved Domains (1) summary

cd03120
Location:36 → 290

alpha_CARP_VIII; Carbonic anhydrase alpha related protein, group VIII. Carbonic anhydrase related proteins (CARPs) are sequence similar to carbonic anhydrases. Carbonic anhydrases are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a ...