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Reviewed, UniProtKB/Swiss-Prot Q16790 (CAH9_HUMAN)

Last modified June 16, 2009. Version 91. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Carbonic anhydrase 9
    EC=4.2.1.1
Alternative name(s):
    Carbonic anhydrase IX
      Short name=CA-IX
      Short name=CAIX
    Carbonate dehydratase IX
    Membrane antigen MN
    P54/58N
    Renal cell carcinoma-associated antigen G250
      Short name=RCC-associated antigen G250
    pMW1
Gene names
Name: CA9
Synonyms: G250, MN
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length459 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

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General annotation (Comments)

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. Ref.10

Catalytic activity

H2CO3 = CO2 + H2O.

Cofactor

Zinc By similarity.

Subunit structure

Forms oligomers linked by disulfide bonds. Ref.10

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. Ref.8

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. Ref.10

Post-translational modification

Asn-346 bears high-mannose type glycan structures.

Sequence similarities

Belongs to the alpha-carbonic anhydrase family.

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Ontologies

Keywords
   Cellular componentCell membrane
Cell projection
Membrane
Nucleus
   Coding sequence diversityPolymorphism
   DomainSignal
Transmembrane
   LigandMetal-binding
Zinc
   Molecular functionLyase
   PTMDisulfide bond
Glycoprotein
Phosphoprotein
   Technical term3D-structure
Direct protein sequencing
Gene Ontology (GO)
   Biological processone-carbon compound metabolic process

Inferred from electronic annotation. Source: InterPro

   Cellular componentintegral to membrane

Traceable author statement. Source: ProtInc

microvillus membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleolus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functioncarbonate dehydratase activity

Traceable author statement. Source: ProtInc

zinc ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3737 Ref.6
Chain38 – 459422Carbonic anhydrase 9
PRO_0000004243

Regions

Topological domain38 – 414377Extracellular
Transmembrane415 – 43521 Potential
Topological domain436 – 45924Cytoplasmic
Region38 – 11275Proteoglycan-like (PG)
Region113 – 414302Catalytic

Sites

Metal binding2261Zinc; catalytic By similarity
Metal binding2281Zinc; catalytic By similarity
Metal binding2511Zinc; catalytic By similarity

Amino acid modifications

Modified residue4491Phosphotyrosine Ref.9
Glycosylation1151O-linked (GlcNAc...) Ref.10
Glycosylation3461N-linked (GlcNAc...) Ref.10
Disulfide bond156 ↔ 336 Ref.10
Disulfide bond174Interchain Probable

Natural variations

Natural variant331V → M: dbSNP rs2071676. Ref.1 Ref.5
VAR_010787
Natural variant3261Q → R: dbSNP rs3829078.
VAR_020049

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Sequences

Sequence LengthMass (Da)Tools
Q16790-1 [UniParc].

Last modified December 6, 2005. Version 2.
Checksum: BA67195483F0F5CE

FASTA45949,698
        10         20         30         40         50         60 
MAPLCPSPWL PLLIPAPAPG LTVQLLLSLL LLVPVHPQRL PRMQEDSPLG GGSSGEDDPL 

        70         80         90        100        110        120 
GEEDLPSEED SPREEDPPGE EDLPGEEDLP GEEDLPEVKP KSEEEGSLKL EDLPTVEAPG 

       130        140        150        160        170        180 
DPQEPQNNAH RDKEGDDQSH WRYGGDPPWP RVSPACAGRF QSPVDIRPQL AAFCPALRPL 

       190        200        210        220        230        240 
ELLGFQLPPL PELRLRNNGH SVQLTLPPGL EMALGPGREY RALQLHLHWG AAGRPGSEHT 

       250        260        270        280        290        300 
VEGHRFPAEI HVVHLSTAFA RVDEALGRPG GLAVLAAFLE EGPEENSAYE QLLSRLEEIA 

       310        320        330        340        350        360 
EEGSETQVPG LDISALLPSD FSRYFQYEGS LTTPPCAQGV IWTVFNQTVM LSAKQLHTLS 

       370        380        390        400        410        420 
DTLWGPGDSR LQLNFRATQP LNGRVIEASF PAGVDSSPRA AEPVQLNSCL AAGDILALVF 

       430        440        450 
GLLFAVTSVA FLVQMRRQHR RGTKGGVSYR PAEVAETGA

« Hide

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References

« Hide 'large scale' references
[1]"Cloning and characterization of MN, a human tumor-associated protein with a domain homologous to carbonic anhydrase and a putative helix-loop-helix DNA binding segment."
Pastorek J., Pastorekova S., Callebaut I., Mornon J.-P., Zelnik V., Opavsky R., Zat'Ovicova M., Liao S., Portetelle D., Stanbridge E.J., Zavada J., Burny A., Kettmann R.
Oncogene 9:2877-2888(1994) [PubMed: 8084592] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHARACTERIZATION, VARIANT MET-33.
Tissue: Carcinoma.
[2]"Molecular cloning and immunogenicity of renal cell carcinoma-associated antigen G250."
Grabmaier K., Vissers J.L.M., De Weijert M.C.A., Oosterwijk-Wakka J.C., Van Bokhoven A., Brakenhoff R.H., Noessner E., Mulders P.A., Merkx G., Figdor C.G., Adema G.J., Oosterwijk E.
Int. J. Cancer 85:865-870(2000) [PubMed: 10709109] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Renal cell carcinoma.
[3]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed: 15164053] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT MET-33.
Tissue: Colon.
[6]"Signal peptide prediction based on analysis of experimentally verified cleavage sites."
Zhang Z., Henzel W.J.
Protein Sci. 13:2819-2824(2004) [PubMed: 15340161] [Abstract]
Cited for: PROTEIN SEQUENCE OF 38-52.
[7]"A novel quasi-viral agent, MaTu, is a two-component system."
Pastorekova S., Zavadova Z., Kostal M., Babusikova O., Zavada J.
Virology 187:620-626(1992) [PubMed: 1312272] [Abstract]
Cited for: CHARACTERIZATION.
[8]"Expression of MaTu-MN protein in human tumor cultures and in clinical specimens."
Zavada J., Zavadova Z., Pastorekova S., Ciampor F., Pastorek J., Zelnik V.
Int. J. Cancer 54:268-274(1993) [PubMed: 8486430] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[9]"The role of carbonic anhydrase IX overexpression in kidney cancer."
Dorai T., Sawczuk I.S., Pastorek J., Wiernik P.H., Dutcher J.P.
Eur. J. Cancer 41:2935-2947(2005) [PubMed: 16310354] [Abstract]
Cited for: PHOSPHORYLATION AT TYR-449.
[10]"Biochemical characterization of CA IX, one of the most active carbonic anhydrase isozymes."
Hilvo M., Baranauskiene L., Salzano A.M., Scaloni A., Matulis D., Innocenti A., Scozzafava A., Monti S.M., Di Fiore A., De Simone G., Lindfors M., Janis J., Valjakka J., Pastorekova S., Pastorek J., Kulomaa M.S., Nordlund H.R., Supuran C.T., Parkkila S.
J. Biol. Chem. 283:27799-27809(2008) [PubMed: 18703501] [Abstract]
Cited for: FUNCTION, SUBUNIT, INDUCTION, GLYCOSYLATION AT THR-115 AND ASN-346, DISULFIDE BONDS.
+Additional computationally mapped references.

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Cross-references

Sequence databases

X66839 mRNA. Translation: CAA47315.1.
AJ010588 mRNA. Translation: CAB82444.1.
AL133410, AL357874 Genomic DNA. Translation: CAI10985.1.
AL357874, AL133410 Genomic DNA. Translation: CAI13455.1.
CH471071 Genomic DNA. Translation: EAW58359.1.
BC014950 mRNA. Translation: AAH14950.1.
IPIIPI00003966.
PIRI38013.
RefSeqNP_001207.2.
UniGeneHs.63287

3D structure databases

EntryMethodResolution (Å)ChainPositionsPDBsum
2HKFX-ray2.01P83-91[»]
ModBaseSearch...

PTM databases

PhosphoSiteQ16790.

Proteomic databases

PRIDEQ16790.

Genome annotation databases

EnsemblENSG00000107159. Homo sapiens. [Contig view]
GeneID768.
KEGGhsa:768.

Organism-specific databases

GeneCardsGC09P035663.
HGNCHGNC:1383. CA9.
HPACAB005100.
CAB017107.
MIM603179. gene.
PharmGKBPA24384.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ16790.
HOVERGENQ16790.
OMAQ16790. FRATQPL.

Enzyme and pathway databases

BRENDA4.2.1.1. 247.
Pathway_Interaction_DBhif1_tfpathway. HIF-1-alpha transcription factor network.

Gene expression databases

ArrayExpressQ16790.
BgeeQ16790.
CleanExHS_CA9.
GermOnlineENSG00000107159. Homo sapiens.

Family and domain databases

InterProIPR001148. Carbonic_anhydrase_a-class_cat.
IPR018338. Carbonic_anhydrase_a-class_CS.
IPR018429. Carbonic_anhydrase_CA9.
[Graphical view]
Gene3DG3DSA:3.10.200.10. Euk_COanhd. 1 hit.
PANTHERPTHR18952:SF18. Carbonic_anhydrase_CA9. 1 hit.
PTHR18952. Euk_COanhd. 1 hit.
PfamPF00194. Carb_anhydrase. 1 hit.
[Graphical view]
ProDomPD000865. Euk_COanhd. 1 hit.
[Graphical view] [Entries sharing at least one domain]
PROSITEPS00162. ALPHA_CA_1. 1 hit.
PS51144. ALPHA_CA_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio3106.
SOURCESearch...

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Entry information

Entry nameCAH9_HUMAN
AccessionPrimary (citable) accession number: Q16790
Secondary accession number(s): Q5T4R1
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: December 6, 2005
Last modified: June 16, 2009
This is version 91 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents