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CA9 carbonic anhydrase 9 [ Homo sapiens (human) ]

Gene ID: 768, updated on 13-Jan-2019

Summary

Official Symbol
CA9provided by HGNC
Official Full Name
carbonic anhydrase 9provided by HGNC
Primary source
HGNC:HGNC:1383
See related
Ensembl:ENSG00000107159 MIM:603179
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

Genomic context

See CA9 in Genome Data Viewer
Location:
9p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (35673809..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 skeletal muscle cis-regulatory module in TPM2 intron Neighboring gene tropomyosin 2 Neighboring gene talin 1 Neighboring gene microRNA 6852

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?

HIV-1 interactions

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

Pathways from BioSystems

  • 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,...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
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
 

General protein information

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

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.

mRNA and Protein(s)

  1. NM_001216.3NP_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, ENST00000378357.8
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    35673809..35681159
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001746374.2 RNA Sequence

  2. XR_428428.3 RNA Sequence

    Related
    ENST00000617161.1
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