Q9Y471 (CMAH_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified November 13, 2013. Version 79. History...
Names and origin
|Protein names||Recommended name:|
Putative cytidine monophosphate-N-acetylneuraminic acid hydroxylase-like protein
Short name=CMP-NeuAc hydroxylase-like protein
Cytidine monophosphate-N-acetylneuraminic acid hydroxylase pseudogene
|Organism||Homo sapiens (Human) [Reference proteome]|
|Taxonomic identifier||9606 [NCBI]|
|Taxonomic lineage||Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo|
|Sequence length||72 AA.|
General annotation (Comments)
Widely expressed. Highly expressed in thymus. Not expressed in brain. Ref.3
Belongs to the CMP-Neu5Ac hydroxylase family.
Contains 1 Rieske domain.
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).
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.
|Technical term||Complete proteome|
|Gene Ontology (GO)|
|Molecular_function||2 iron, 2 sulfur cluster binding|
Inferred from electronic annotation. Source: InterProoxidoreductase activity
Inferred from electronic annotation. Source: InterPro
|Complete GO annotation...|
Sequence annotation (Features)
|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.
3D structure databases
Protein-protein interaction databases
Protocols and materials databases
Genome annotation databases
|Ensembl||ENST00000377989; ENSP00000367228; ENSG00000168405. |
ENST00000377993; ENSP00000367232; ENSG00000168405.
ENST00000399346; ENSP00000382283; ENSG00000168405.
ENST00000436589; ENSP00000397893; ENSG00000168405.
ENST00000458373; ENSP00000401225; ENSG00000168405.
|HGNC||HGNC:2098. CMAHP. |
|MIM||603209. gene. |
Gene expression databases
Family and domain databases
|InterPro||IPR017941. Rieske_2Fe-2S. |
|SUPFAM||SSF50022. SSF50022. 1 hit. |
|PROSITE||PS51296. RIESKE. 1 hit. |
|Accession||Primary (citable) accession number: Q9Y471|
Secondary accession number(s): O95250 Q9UEE7
|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.|