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Q9Y471 (CMAH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified June 11, 2014. Version 83. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:CMAHP
Synonyms:CMAH
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length72 AA.
Sequence statusComplete.
Protein existenceUncertain

General annotation (Comments)

Tissue specificity

Widely expressed. Highly expressed in thymus. Not expressed in brain. Ref.3

Sequence similarities

Belongs to the CMP-Neu5Ac hydroxylase family.

Contains 1 Rieske domain.

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 (Ref.1 and Ref.5).

Sequence caution

The sequence BAA31160.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

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.

Ontologies

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 7272Putative cytidine monophosphate-N-acetylneuraminic acid hydroxylase-like protein
PRO_0000127801

Regions

Domain14 – 7259Rieske; truncated

Sequences

Sequence LengthMass (Da)Tools
Q9Y471 [UniParc].

Last modified February 10, 2009. Version 3.
Checksum: 16AA118D3075F708

FASTA728,042
        10         20         30         40         50         60 
MGSIEQTTEI LLCLSPVEVA SLKEGINFFR NKSTGKDYVL YKNKSRLRAC KNMCKHQGGL 

        70 
FIKDIEDLAG SC 

« Hide

References

« Hide 'large scale' references
[1]"A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence."
Chou H.-H., Takematsu H., Diaz S., Iber J., Nickerson E., Wright K.L., Muchmore E.A., Nelson D.L., Warren S.T., Varki A.
Proc. Natl. Acad. Sci. U.S.A. 95:11751-11756(1998) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
UniGeneHs.484918.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000367228.

Polymorphism databases

DMDM223590237.

Proteomic databases

PaxDbQ9Y471.
PRIDEQ9Y471.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000377989; ENSP00000367228; ENSG00000168405.
ENST00000377993; ENSP00000367232; ENSG00000168405.
ENST00000399346; ENSP00000382283; ENSG00000168405.
ENST00000436589; ENSP00000397893; ENSG00000168405.
ENST00000458373; ENSP00000401225; ENSG00000168405.

Organism-specific databases

GeneCardsGC06M025082.
HGNCHGNC:2098. CMAHP.
MIM603209. gene.
neXtProtNX_Q9Y471.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG74230.
HOVERGENHBG107724.
OrthoDBEOG71P29R.
PhylomeDBQ9Y471.
TreeFamTF331273.

Gene expression databases

GenevestigatorQ9Y471.

Family and domain databases

InterProIPR027033. Cnh.
IPR017941. Rieske_2Fe-2S.
[Graphical view]
PANTHERPTHR15032:SF10. PTHR15032:SF10. 1 hit.
SUPFAMSSF50022. SSF50022. 1 hit.
PROSITEPS51296. RIESKE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

SOURCESearch...

Entry information

Entry nameCMAH_HUMAN
AccessionPrimary (citable) accession number: Q9Y471
Secondary accession number(s): O95250 expand/collapse secondary AC list , Q5TD41, Q5TD42, Q5TD43, Q5TD44, Q68DC3, Q9UEE7
Entry history
Integrated into UniProtKB/Swiss-Prot: May 10, 2005
Last sequence update: February 10, 2009
Last modified: June 11, 2014
This is version 83 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM