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    CA9 carbonic anhydrase 9 [ Homo sapiens (human) ]

    Gene ID: 768, updated on 11-Feb-2018
    Official Symbol
    CA9provided by HGNC
    Official Full Name
    carbonic anhydrase 9provided by HGNC
    Primary source
    HGNC:HGNC:1383
    See related
    Ensembl:ENSG00000107159 MIM:603179; Vega:OTTHUMG00000021029
    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
    MN; CAIX
    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 IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jun 2014]
    Expression
    Biased expression in stomach (RPKM 43.2), gall bladder (RPKM 17.1) and 4 other tissues See more
    Orthologs
    Location:
    9p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (35673859..35681159)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35673915..35681156)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Rho guanine nucleotide exchange factor 39 Neighboring gene coiled-coil domain containing 107 Neighboring gene RNA, 7SL, cytoplasmic 22, pseudogene Neighboring gene tropomyosin 2 Neighboring gene talin 1 Neighboring gene microRNA 6852

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CA9 PubMed

    Go to the HIV-1, Human Interaction Database

    • Cellular response to hypoxia, organism-specific biosystem (from REACTOME)
      Cellular response to hypoxia, organism-specific biosystemOxygen plays a central role in the functioning of human cells: it is both essential for normal metabolism and toxic. To begin the annotation of stress responses in Reactome, we have annotated one asp...
    • Cellular responses to stress, organism-specific biosystem (from REACTOME)
      Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
    • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      HIF-1-alpha transcription factor network, organism-specific biosystem
      HIF-1-alpha transcription factor network
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • 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...
    • Regulation of Hypoxia-inducible Factor (HIF) by oxygen, organism-specific biosystem (from REACTOME)
      Regulation of Hypoxia-inducible Factor (HIF) by oxygen, organism-specific biosystemIn the presence of oxygen members of the transcription factor family HIF-alpha, comprising HIF1A, HIF2A (EPAS1), and HIF3A, are hydroxylated on proline residues by PHD1 (EGLN2), PHD2 (EGLN1), and PHD...
    • Regulation of gene expression by Hypoxia-inducible Factor, organism-specific biosystem (from REACTOME)
      Regulation of gene expression by Hypoxia-inducible Factor, organism-specific biosystemHIF-alpha (HIF1A, HIF2A (EPAS1), HIF3A) is translocated to the nucleus, possibly by two pathways: importin 4/7 (Chachami et al. 2009) and importin alpha/beta (Depping et al. 2008). Once in the nucleu...
    • Reversible hydration of carbon dioxide, organism-specific biosystem (from REACTOME)
      Reversible hydration of carbon dioxide, organism-specific biosystemCarbonic anhydrases reversibly catalyze the hydration of carbon dioxide and directly produce bicarbonate and protons, bypassing the formation of carbonic acid (reviewed in Lindskog 1997, Breton 2001,...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    carbonate dehydratase activity TAS
    Traceable Author Statement
    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
    bicarbonate transport TAS
    Traceable Author Statement
    more info
     
    morphogenesis of an epithelium IEA
    Inferred from Electronic Annotation
    more info
     
    one-carbon metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
    Traceable Author Statement
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to testosterone IEA
    Inferred from Electronic Annotation
    more info
     
    secretion IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    microvillus membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    carbonic anhydrase 9
    Names
    CA-IX
    P54/58N
    RCC-associated antigen G250
    RCC-associated protein G250
    carbonate dehydratase IX
    carbonic anhydrase IX
    carbonic dehydratase
    membrane antigen MN
    pMW1
    renal cell carcinoma-associated antigen G250
    NP_001207.2

    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)

    1. NM_001216.2NP_001207.2  carbonic anhydrase 9 precursor

      See identical proteins and their annotated locations for NP_001207.2

      Status: REVIEWED

      Source sequence(s)
      AI023541, AL554705, X66839
      Consensus CDS
      CCDS6585.1
      UniProtKB/Swiss-Prot
      Q16790
      UniProtKB/TrEMBL
      A0A0S2Z3D0
      Related
      ENSP00000367608.4, OTTHUMP00000022773, ENST00000378357.8, OTTHUMT00000055479
      Conserved Domains (1) summary
      cd03150
      Location:145391
      alpha_CA_IX; Carbonic anhydrase alpha, isozyme IX. 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 dioxide, followed ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      35673859..35681159
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001746374.1 RNA Sequence

    2. XR_428428.3 RNA Sequence

      Related
      ENST00000617161.1

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      35673743..35680984
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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