Version 5.4
Mus musculus Gene: Cmah
Summary
InnateDB Gene IDBG-138610.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Cmah
Gene Name cytidine monophospho-N-acetylneuraminic acid hydroxylase
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000016756
Encoded Proteins
IDBP-138612
cytidine monophospho-N-acetylneuraminic acid hydroxylase
IDBP-260371
cytidine monophospho-N-acetylneuraminic acid hydroxylase
IDBP-619779
cytidine monophospho-N-acetylneuraminic acid hydroxylase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000168405:
Sialic acids are terminal components of the carbohydrate chains of glycoconjugates involved in ligand-receptor, cell-cell, and cell-pathogen interactions. The two most common forms of sialic acid found in mammalian cells are N-acetylneuraminic acid (Neu5Ac) and its hydroxylated derivative, N-glycolylneuraminic acid (Neu5Gc). Studies of sialic acid distribution show that Neu5Gc is not detectable in normal human tissues although it was an abundant sialic acid in other mammals. Neu5Gc is, in actuality, immunogenic in humans. The absense of Neu5Gc in humans is due to a deletion within the human gene CMAH encoding cytidine monophosphate-N-acetylneuraminic acid hydroxylase, an enzyme responsible for Neu5Gc biosynthesis. Sequences encoding the mouse, pig, and chimpanzee hydroxylase enzymes were obtained by cDNA cloning and found to be highly homologous. However, the homologous human cDNA differs from these cDNAs by a 92-bp deletion in the 5\' region. This deletion, corresponding to exon 6 of the mouse hydroxylase gene, causes a frameshift mutation and premature termination of the polypeptide chain in human. It seems unlikely that the truncated human hydroxylase mRNA encodes for an active enzyme explaining why Neu5Gc is undetectable in normal human tissues. Human genomic DNA also shows evidence of this deletion which does not occur in the genomes of African great apes. Nonetheless, the CMAH gene maps to 6p21.32 in humans and great apes indicating that mutation of the CMAH gene occurred following human divergence from chimpanzees and bonobos. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 13:24327420-24477285
Strand Forward strand
Band A3.1
Transcripts
ENSMUST00000050859 ENSMUSP00000061045
ENSMUST00000110391 ENSMUSP00000106021
ENSMUST00000131691
ENSMUST00000144621
ENSMUST00000142882
ENSMUST00000167746 ENSMUSP00000129007
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0016491 oxidoreductase activity
GO:0016787 hydrolase activity
GO:0030338 CMP-N-acetylneuraminate monooxygenase activity
GO:0046872 metal ion binding
GO:0051537 2 iron, 2 sulfur cluster binding
Biological Process
GO:0006054 N-acetylneuraminate metabolic process
GO:0046381 CMP-N-acetylneuraminate metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000168405
View Gene Order
ENSBTAG00000003892
Not yet available
Pathways
NETPATH
REACTOME
KEGG
mmu00520
Amino sugar and nucleotide sugar metabolism pathway
INOH
PID NCI
Cross-References
SwissProt Q61419
TrEMBL
UniProt Splice Variant
Entrez Gene 12763
UniGene Mm.8396
RefSeq NM_007717 NM_001111110 NM_001284519
OMIM
CCDS CCDS26376
HPRD
IMGT
MGI ID MGI:103227
MGI Symbol Cmah
EMBL AB061276 AB061277 AB061346 AL589744 BC055079 D21826
GenPept AAH55079 BAA04850 BAB91361 BAB91362 BAB91553 CAI26039
RNA Seq Atlas 12763

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca