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Q9Y471

- CMAH_HUMAN

UniProt

Q9Y471 - CMAH_HUMAN

Protein

Putative cytidine monophosphate-N-acetylneuraminic acid hydroxylase-like protein

Gene

CMAHP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Protein uncertaini
  1. Functioni

    GO - Molecular functioni

    1. 2 iron, 2 sulfur cluster binding Source: InterPro
    2. oxidoreductase activity Source: InterPro

    GO - Biological processi

    1. CMP-N-acetylneuraminate metabolic process Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Putative cytidine monophosphate-N-acetylneuraminic acid hydroxylase-like protein
    Short name:
    CMP-NeuAc hydroxylase-like protein
    Alternative name(s):
    Cytidine monophosphate-N-acetylneuraminic acid hydroxylase pseudogene
    Gene namesi
    Name:CMAHP
    Synonyms:CMAH
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:2098. CMAHP.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: ProtInc

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 7272Putative cytidine monophosphate-N-acetylneuraminic acid hydroxylase-like proteinPRO_0000127801Add
    BLAST

    Proteomic databases

    PaxDbiQ9Y471.
    PRIDEiQ9Y471.

    Expressioni

    Tissue specificityi

    Widely expressed. Highly expressed in thymus. Not expressed in brain.1 Publication

    Gene expression databases

    GenevestigatoriQ9Y471.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000367228.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini14 – 7259Rieske; truncatedPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the CMP-Neu5Ac hydroxylase family.Curated
    Contains 1 Rieske domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG74230.
    HOVERGENiHBG107724.
    OrthoDBiEOG71P29R.
    PhylomeDBiQ9Y471.
    TreeFamiTF331273.

    Family and domain databases

    InterProiIPR027033. Cnh.
    IPR017941. Rieske_2Fe-2S.
    [Graphical view]
    PANTHERiPTHR15032:SF10. PTHR15032:SF10. 1 hit.
    SUPFAMiSSF50022. SSF50022. 1 hit.
    PROSITEiPS51296. RIESKE. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9Y471-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGSIEQTTEI LLCLSPVEVA SLKEGINFFR NKSTGKDYVL YKNKSRLRAC   50
    KNMCKHQGGL FIKDIEDLAG SC 72
    Length:72
    Mass (Da):8,042
    Last modified:February 10, 2009 - v3
    Checksum:i16AA118D3075F708
    GO

    Sequence cautioni

    The sequence BAA31198.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI20561.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI20562.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI20563.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI20564.1 differs from that shown. Reason: Erroneous gene model prediction.

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF074480 mRNA. Translation: AAC68881.1.
    AL133268 Genomic DNA. Translation: CAI20561.1. Sequence problems.
    AL133268 Genomic DNA. Translation: CAI20562.1. Sequence problems.
    AL133268 Genomic DNA. Translation: CAI20563.1. Sequence problems.
    AL133268 Genomic DNA. Translation: CAI20564.1. Sequence problems.
    AB009668 Genomic DNA. Translation: BAA31198.1. Sequence problems.
    D86324 mRNA. Translation: BAA31160.1. Sequence problems.
    UniGeneiHs.484918.

    Genome annotation databases

    EnsembliENST00000377989; ENSP00000367228; ENSG00000168405.
    ENST00000377993; ENSP00000367232; ENSG00000168405.
    ENST00000399346; ENSP00000382283; ENSG00000168405.
    ENST00000436589; ENSP00000397893; ENSG00000168405.
    ENST00000458373; ENSP00000401225; ENSG00000168405.

    Polymorphism databases

    DMDMi223590237.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF074480 mRNA. Translation: AAC68881.1 .
    AL133268 Genomic DNA. Translation: CAI20561.1 . Sequence problems.
    AL133268 Genomic DNA. Translation: CAI20562.1 . Sequence problems.
    AL133268 Genomic DNA. Translation: CAI20563.1 . Sequence problems.
    AL133268 Genomic DNA. Translation: CAI20564.1 . Sequence problems.
    AB009668 Genomic DNA. Translation: BAA31198.1 . Sequence problems.
    D86324 mRNA. Translation: BAA31160.1 . Sequence problems.
    UniGenei Hs.484918.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000367228.

    Polymorphism databases

    DMDMi 223590237.

    Proteomic databases

    PaxDbi Q9Y471.
    PRIDEi Q9Y471.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000377989 ; ENSP00000367228 ; ENSG00000168405 .
    ENST00000377993 ; ENSP00000367232 ; ENSG00000168405 .
    ENST00000399346 ; ENSP00000382283 ; ENSG00000168405 .
    ENST00000436589 ; ENSP00000397893 ; ENSG00000168405 .
    ENST00000458373 ; ENSP00000401225 ; ENSG00000168405 .

    Organism-specific databases

    GeneCardsi GC06M025082.
    HGNCi HGNC:2098. CMAHP.
    MIMi 603209. gene.
    neXtProti NX_Q9Y471.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG74230.
    HOVERGENi HBG107724.
    OrthoDBi EOG71P29R.
    PhylomeDBi Q9Y471.
    TreeFami TF331273.

    Miscellaneous databases

    SOURCEi Search...

    Gene expression databases

    Genevestigatori Q9Y471.

    Family and domain databases

    InterProi IPR027033. Cnh.
    IPR017941. Rieske_2Fe-2S.
    [Graphical view ]
    PANTHERi PTHR15032:SF10. PTHR15032:SF10. 1 hit.
    SUPFAMi SSF50022. SSF50022. 1 hit.
    PROSITEi PS51296. RIESKE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], LACK OF ENZYME ACTIVITY.
    2. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The molecular basis for the absence of N-glycolylneuraminic acid in humans."
      Irie A., Koyama S., Kozutsumi Y., Kawasaki T., Suzuki A.
      J. Biol. Chem. 273:15866-15871(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 10-72, LACK OF ENZYME ACTIVITY, TISSUE SPECIFICITY.
    4. "Alu-mediated inactivation of the human CMP-N-acetylneuraminic acid hydroxylase gene."
      Hayakawa T., Satta Y., Gagneux P., Varki A., Takahata N.
      Proc. Natl. Acad. Sci. U.S.A. 98:11399-11404(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: ENZYME INACTIVATION.
    5. "Inactivation of CMP-N-acetylneuraminic acid hydroxylase occurred prior to brain expansion during human evolution."
      Chou H.-H., Hayakawa T., Diaz S., Krings M., Indriati E., Leakey M., Paabo S., Satta Y., Takahata N., Varki A.
      Proc. Natl. Acad. Sci. U.S.A. 99:11736-11741(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: ENZYME INACTIVATION.

    Entry informationi

    Entry nameiCMAH_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y471
    Secondary accession number(s): O95250
    , Q5TD41, Q5TD42, Q5TD43, Q5TD44, Q68DC3, Q9UEE7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 10, 2005
    Last sequence update: February 10, 2009
    Last modified: October 1, 2014
    This is version 85 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Caution

    Could be the product of a pseudogene. An Alu-mediated inactivating mutation of this gene occured in common ancestors of humans and Neanderthals approximately 2.1-2.2 million years ago, before brain expansion. The resulting product is a truncated and most probably inactive enzyme explaining the absence CMP-Neu5Gc sialic acid in human, while it is abundantly expressed at the surface of many cells in other vertebrates (PubMed:9751737 and PubMed:12192086).Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3