InnateDB: Systems Biology of the Innate Immune Response

Bos taurus Gene: CMAHP

Summary

InnateDB Gene

IDBG-635501.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CMAHP

Gene Name

Uncharacterized protein

Synonyms

Species

Bos taurus

Ensembl Gene

ENSBTAG00000003892

Encoded Proteins

IDBP-687387

cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene

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 23:32463210-32520458

Strand

Forward strand

Band

Transcripts

ENSBTAT00000005079

ENSBTAP00000005079

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:0051536	iron-sulfur cluster binding
GO:0051537	2 iron, 2 sulfur cluster binding

Biological Process

GO:0046381	CMP-N-acetylneuraminate metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005737

cytoplasm

Orthologs

Species

Homo sapiens

Mus musculus

Gene ID

Gene Order

ENSG00000168405

View Gene Order

ENSMUSG00000016756

View Gene Order

Pathway Predictions based on Human Orthology Data

NETPATH

REACTOME

KEGG

mmu00520

Amino sugar and nucleotide sugar metabolism pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Bt.106877

RefSeq

XM_002697563 XM_617171

HUGO

OMIM

CCDS

HPRD

IMGT

EMBL

GenPept

RNA Seq Atlas