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Q9Y471

- CMAH_HUMAN

UniProt

Q9Y471 - CMAH_HUMAN

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Protein
Putative cytidine monophosphate-N-acetylneuraminic acid hydroxylase-like protein
Gene
CMAHP, CMAH
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Protein uncertaini

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
Complete GO annotation...

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
Complete GO annotation...

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 7272Putative cytidine monophosphate-N-acetylneuraminic acid hydroxylase-like protein
PRO_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; truncated
Add
BLAST

Sequence similaritiesi

Contains 1 Rieske domain.

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

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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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 84 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 (1 Publication and 1 Publication).

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

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