Q9Y471 (CMAH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	CMAHP
Synonyms:	CMAH

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	72 AA.
Sequence status	Complete.
Protein existence	Uncertain

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

Keywords
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	CMP-N-acetylneuraminate metabolic process Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Traceable author statement PubMed 7608218. Source: ProtInc
Molecular_function	2 iron, 2 sulfur cluster binding Inferred from electronic annotation. Source: InterPro oxidoreductase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 72	72	Putative cytidine monophosphate-N-acetylneuraminic acid hydroxylase-like protein		PRO_0000127801
Regions
	Domain	14 – 72	59	Rieske; truncated

Sequences

	Sequence		Length	Mass (Da)
	Q9Y471 [UniParc]. Last modified February 10, 2009. Version 3. Checksum: 16AA118D3075F708	FASTA	72	8,042
	10 20 30 40 50 60 MGSIEQTTEI LLCLSPVEVA SLKEGINFFR NKSTGKDYVL YKNKSRLRAC KNMCKHQGGL 70 FIKDIEDLAG SC

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00921331.
UniGene	Hs.484918.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000367228.
Polymorphism databases
DMDM	223590237.
Proteomic databases
PaxDb	Q9Y471.
PRIDE	Q9Y471.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000377989; ENSP00000367228; ENSG00000168405. ENST00000377993; ENSP00000367232; ENSG00000168405. ENST00000399346; ENSP00000382283; ENSG00000168405. ENST00000436589; ENSP00000397893; ENSG00000168405. ENST00000458373; ENSP00000401225; ENSG00000168405.
Organism-specific databases
GeneCards	GC06M025082.
HGNC	HGNC:2098. CMAHP.
HPA	CAB020711.
MIM	603209. gene.
neXtProt	NX_Q9Y471.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG74230.
HOVERGEN	HBG107724.
OrthoDB	EOG4T782W.
Gene expression databases
Genevestigator	Q9Y471.
GermOnline	ENSG00000168405. Homo sapiens.
Family and domain databases
InterPro	IPR027033. Cnh. IPR017941. Rieske_2Fe-2S. [Graphical view]
PANTHER	PTHR15032:SF2. PTHR15032:SF2. 1 hit.
PROSITE	PS51296. RIESKE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
SOURCE	Search...

Entry information

Entry name

CMAH_HUMAN

Accession

Primary (citable) accession number: Q9Y471
Secondary accession number(s): O95250 , Q5TD41, Q5TD42, Q5TD43, Q5TD44, Q68DC3, Q9UEE7

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 10, 2005
Last sequence update:	February 10, 2009
Last modified:	May 1, 2013
This is version 75 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.