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CMAHP cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene [ Homo sapiens (human) ]

Gene ID: 8418, updated on 1-Jun-2020

Summary

Official Symbol
CMAHPprovided by HGNC
Official Full Name
cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogeneprovided by HGNC
Primary source
HGNC:HGNC:2098
See related
Ensembl:ENSG00000168405 MIM:603209
Gene type
pseudo
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CMAH; CSAH
Summary
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]
Expression
Ubiquitous expression in skin (RPKM 10.5), lung (RPKM 9.3) and 23 other tissues See more

Genomic context

See CMAHP in Genome Data Viewer
Location:
6p22.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (25081067..25138392, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (25081295..25138620, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RHO family interacting cell polarization regulator 2 Neighboring gene uncharacterized LOC102724765 Neighboring gene RNA, 7SL, cytoplasmic 334, pseudogene Neighboring gene argininosuccinate synthetase 1 pseudogene 1 Neighboring gene calcium activated nucleotidase 1 pseudogene Neighboring gene nucleoporin 50 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

General gene information

Markers

Other Names

  • CMP-N-acetylneuraminic acid hydroxylase
  • CMP-Neu5Ac hydroxylase
  • CMP-NeuAc hydroxylase
  • CMP-sialic acid hydroxylase
  • cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMP-N-acetylneuraminate monooxygenase)(pseudogene)

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT CMP-N-acetylneuraminate monooxygenase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
regulation of Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

RNA

  1. NR_002174.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript.
    Source sequence(s)
    AF074480, BG536615, CA312822
    Related
    ENST00000643807.1
  2. NR_027626.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains alternate 5' and 3' exons, compared to variant 1.
    Source sequence(s)
    AL133268, BC032500, DA976765

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    25081067..25138392 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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