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Protein

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

Gene

CMAHP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 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: Unplaced

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 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.
InParanoidiQ9Y471.
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

        10         20         30         40         50
MGSIEQTTEI LLCLSPVEVA SLKEGINFFR NKSTGKDYVL YKNKSRLRAC
60 70
KNMCKHQGGL FIKDIEDLAG SC
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. Curated
The sequence CAI20561.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI20562.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI20563.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI20564.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000367228.

Polymorphism databases

DMDMi223590237.

Proteomic databases

PaxDbiQ9Y471.
PRIDEiQ9Y471.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

GeneCardsiGC06M025082.
HGNCiHGNC:2098. CMAHP.
MIMi603209. gene.
neXtProtiNX_Q9Y471.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG74230.
HOVERGENiHBG107724.
InParanoidiQ9Y471.
OrthoDBiEOG71P29R.
PhylomeDBiQ9Y471.
TreeFamiTF331273.

Miscellaneous databases

ChiTaRSiCMAHP. human.
SOURCEiSearch...

Gene expression databases

GenevestigatoriQ9Y471.

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]
ProtoNetiSearch...

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: January 7, 2015
This is version 88 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.