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    CA8 carbonic anhydrase 8 [ Homo sapiens (human) ]

    Gene ID: 767, updated on 17-Jun-2019

    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
    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
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (60185412..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 PDCL3 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 Apr 4 07:08:55 2018

    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
    Compare labs

    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_001321837.2NP_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_001321838.2NP_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_001321839.2NP_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_004056.6NP_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, ENST00000317995.5
      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

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      60185412..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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