CMAHP - Inactive cytidine monophosphate-N-acetylneuraminic acid hydroxylase - human protein (Function)
 
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CMAHP »  Inactive cytidine monophosphate-N-acetylneuraminic acid hydroxylase  (CMP-NeuAc hydroxylase-like protein)
 
Protein also known as:  Cytidine monophosphate-N-acetylneuraminic acid hydroxylase pseudogene.
Gene name:  CMAHP
Family name: CMP-Neu5Ac hydroxylase
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Function

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Overview 
Sialic acids are components of carbohydrate chains of glycoconjugates and are involved in cell-cell recognition and cell-pathogen interactions. That protein has no CMP-N-acetylneuraminate monooxygenase activity and is not able to convert CMP-N-acetylneuraminic acid (CMP-Neu5Ac) into its hydroxylated derivative CMP-N-glycolylneuraminic acid (CMP-Neu5Gc), a sialic acid abundantly expressed at the surface of many cells in vertebrates (PubMed9624188). However, it may play a role in Wnt signaling (PubMed19890979).  
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  • UniProtKB
GO molecular function 
2 iron, 2 sulfur cluster bindingdefinition[GO:0051537] silver  
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  • InterPro 2 GO
Not  CMP-N-acetylneuraminate monooxygenase activitydefinition[GO:0030338]  
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  • UniProtKB
GO biological process 
CMP-N-acetylneuraminate metabolic processdefinition[GO:0046381] silver  
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  • InterPro 2 GO
Oxidation-reduction processdefinition[GO:0055114] silver  
1
  • InterPro 2 GO
Regulation of Wnt signaling pathwaydefinition[GO:0030111]  
1
  • UniProtKB
Caution 
An Alu-mediated mutation of this gene occured in a common ancestor of homo sapiens and homo sapiens neanderthalis, approximately 2.1-2.2 million years ago, before brain expansion. It is generally accepted that the product of this gene, if any, is catalytically inactive as suggested by the absence of CMP-Neu5Gc sialic acid in human, while it is abundantly expressed at the surface of many cells in other vertebrates. The gene is however, significantly transcribed and the product described here might be expressed in vivo (PubMed19890979). The putative protein is N-terminally truncated compared to orthologs and lacks a region probably essential to the CMP-N-acetylneuraminate monooxygenase activity.  
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  • UniProtKB
 

Keywords

Technical term 
Reference proteome  definition   [KW-1185]