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CA8 carbonic anhydrase 8 [ Homo sapiens (human) ]

Gene ID: 767, updated on 5-Aug-2018

Summary

Official Symbol
CA8provided by HGNC
Official Full Name
carbonic anhydrase 8provided by HGNC
Primary source
HGNC:HGNC:1382
See related
Ensembl:ENSG00000178538 MIM:114815; Vega:OTTHUMG00000165325
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
CALS; CARP; CA-RP; CAMRQ3; CA-VIII
Summary
The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Expression
Broad expression in testis (RPKM 2.4), placenta (RPKM 2.4) and 20 other tissues See more
Orthologs

Genomic context

See CA8 in Genome Data Viewer
Location:
8q12.1
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (60185420..60281423, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (61101423..61193954, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375863 Neighboring gene SLC2A13 pseudogene 1 Neighboring gene uncharacterized LOC105375864 Neighboring gene phosducin-like 3 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
MedGen: C2750509 OMIM: 613227 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
NHGRI GWA Catalog
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

  • Nitrogen metabolism, organism-specific biosystem (from KEGG)
    Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • Nitrogen metabolism, conserved biosystem (from KEGG)
    Nitrogen metabolism, conserved biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC99509, MGC120502

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbonate dehydratase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
phosphatidylinositol-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
carbonic anhydrase-related protein
Names
CA-related protein
carbonate dehydratase
carbonic anhydrase VIII
carbonic anhydrase-like sequence
NP_001308766.1
NP_001308767.1
NP_001308768.1
NP_004047.3
XP_011515889.1
XP_011515890.1
XP_016869307.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_023193.2 RefSeqGene

    Range
    4973..100976
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001321837.1NP_001308766.1  carbonic anhydrase-related protein isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 3' terminal exon and differs in the 3' UTR, compared to variant 1. Both variants 1 and 2 encode isoform a.
    Source sequence(s)
    AC132834, BC108929, BX098118, DC400671
    Consensus CDS
    CCDS6174.1
    UniProtKB/Swiss-Prot
    P35219
    Conserved Domains (1) summary
    cd03120
    Location:35289
    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 ...
  2. NM_001321838.1NP_001308767.1  carbonic anhydrase-related protein isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an additional exon that results in a frameshift to an early stop codon, and it also contains an alternate 3' terminal exon and thus differs in the 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct and shorter C-terminus, compared to isoform a.
    Source sequence(s)
    AC132834, BC108929, BX098118, DC400671
    UniProtKB/Swiss-Prot
    P35219
    Conserved Domains (1) summary
    cl00012
    Location:35247
    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 ...
  3. NM_001321839.1NP_001308768.1  carbonic anhydrase-related protein isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
    Source sequence(s)
    AC021393, BC108929, DC400671, HY307263
    UniProtKB/Swiss-Prot
    P35219
    Conserved Domains (1) summary
    cl00012
    Location:35257
    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 ...
  4. NM_004056.5NP_004047.3  carbonic anhydrase-related protein isoform a

    See identical proteins and their annotated locations for NP_004047.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Both variants 1 and 2 encode isoform a.
    Source sequence(s)
    AC021393, BC108929, DC400671, HY307263
    Consensus CDS
    CCDS6174.1
    UniProtKB/Swiss-Prot
    P35219
    Related
    ENSP00000314407.4, OTTHUMP00000229370, ENST00000317995.4, OTTHUMT00000383445
    Conserved Domains (1) summary
    cd03120
    Location:35289
    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 ...

RNA

  1. NR_135821.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC021393, AC132834, BC108929, DC400671, HY307263

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    60185420..60281423 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013818.1XP_016869307.1  carbonic anhydrase-related protein isoform X1

  2. XM_011517588.3XP_011515890.1  carbonic anhydrase-related protein isoform X3

    Conserved Domains (1) summary
    cl00012
    Location:35140
    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 ...
  3. XM_011517587.2XP_011515889.1  carbonic anhydrase-related protein isoform X2

    Conserved Domains (1) summary
    cl00012
    Location:35140
    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 ...
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