Human Gene CA9 (uc003zxo.4) Description and Page Index
Description: Homo sapiens carbonic anhydrase IX (CA9), mRNA. RefSeq Summary (NM_001216): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC014950.1, SRR3476690.458455.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000378357.9/ ENSP00000367608.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr9:35,673,915-35,681,154 Size: 7,240 Total Exon Count: 11 Strand: + Coding Region Position: hg19 chr9:35,673,957-35,681,022 Size: 7,066 Coding Exon Count: 11
ID:CAH9_HUMAN DESCRIPTION: RecName: Full=Carbonic anhydrase 9; EC=22.214.171.124; AltName: Full=Carbonate dehydratase IX; AltName: Full=Carbonic anhydrase IX; Short=CA-IX; Short=CAIX; AltName: Full=Membrane antigen MN; AltName: Full=P54/58N; AltName: Full=Renal cell carcinoma-associated antigen G250; Short=RCC-associated antigen G250; AltName: Full=pMW1; Flags: Precursor; FUNCTION: Reversible hydration of carbon dioxide. Participates in pH regulation. May be involved in the control of cell proliferation and transformation. Appears to be a novel specific biomarker for a cervical neoplasia. CATALYTIC ACTIVITY: H(2)CO(3) = CO(2) + H(2)O. COFACTOR: Zinc. ENZYME REGULATION: Inhibited by coumarins, saccharin, sulfonamide derivatives such as acetazolamide (AZA) and Foscarnet (phosphonoformate trisodium salt). BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 6.5; SUBUNIT: Forms oligomers linked by disulfide bonds. SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleolus. Cell membrane; Single-pass type I membrane protein. Cell projection, microvillus membrane; Single-pass type I membrane protein. Note=Found on the surface microvilli and in the nucleus, particularly in nucleolus. TISSUE SPECIFICITY: Expressed primarily in carcinoma cells lines. Expression is restricted to very few normal tissues and the most abundant expression is found in the epithelial cells of gastric mucosa. INDUCTION: By hypoxia. PTM: Asn-346 bears high-mannose type glycan structures. SIMILARITY: Belongs to the alpha-carbonic anhydrase family.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): CA9 CDC HuGE Published Literature: CA9
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q16790
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.