Mouse Gene Cmah (ENSMUST00000224953.2) from GENCODE VM30
  Description: Catalyzes the conversion of 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, except in brain. (from UniProt Q61419)
Gencode Transcript: ENSMUST00000224953.2
Gencode Gene: ENSMUSG00000016756.18
Transcript (Including UTRs)
   Position: mm39 chr13:24,511,387-24,652,619 Size: 141,233 Total Exon Count: 16 Strand: +
Coding Region
   Position: mm39 chr13:24,600,983-24,652,605 Size: 51,623 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2022-06-02 09:33:23

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:24,511,387-24,652,619)mRNA (may differ from genome)Protein (577 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSEnsembl
ExonPrimerGeneCardsMGIPubMedUniProtKB

-  Comments and Description Text from UniProtKB
  ID: CMAH_MOUSE
DESCRIPTION: RecName: Full=Cytidine monophosphate-N-acetylneuraminic acid hydroxylase; Short=CMP-N-acetylneuraminic acid hydroxylase; EC=1.14.18.2; AltName: Full=CMP-N-acetylneuraminate monooxygenase; AltName: Full=CMP-Neu5Ac hydroxylase; AltName: Full=CMP-NeuAc hydroxylase; Flags: Precursor;
FUNCTION: Catalyzes the conversion of 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, except in brain.
CATALYTIC ACTIVITY: CMP-N-acetylneuraminate + 2 ferrocytochrome b5 + O(2) + 2 H(+) = CMP-N-glycoloylneuraminate + 2 ferricytochrome b5 + H(2)O.
COFACTOR: Binds 1 2Fe-2S cluster per subunit (Probable).
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=5 uM for CMP-NeuAc;
PATHWAY: Amino-sugar metabolism; N-acetylneuraminate metabolism.
SUBCELLULAR LOCATION: Cytoplasm.
SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum (Probable).
TISSUE SPECIFICITY: Expressed in all tissues tested, except in brain.
DISRUPTION PHENOTYPE: Mice do not synthesize N-glycolylneuraminic acid (Neu5Gc).
SIMILARITY: Belongs to the CMP-Neu5Ac hydroxylase family.
SIMILARITY: Contains 1 Rieske domain.
SEQUENCE CAUTION: Sequence=BAB91361.1; Type=Erroneous initiation; Sequence=BAB91362.1; Type=Erroneous initiation; Sequence=BAB91553.1; Type=Erroneous initiation;

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -150.80473-0.319 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017941 - Rieske_2Fe-2S

Pfam Domains:
PF00355 - Rieske [2Fe-2S] domain

ModBase Predicted Comparative 3D Structure on Q61419
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
HumanRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
      
      
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016491 oxidoreductase 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: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


-  Descriptions from all associated GenBank mRNAs
  BC028474 - Mus musculus cytidine monophospho-N-acetylneuraminic acid hydroxylase, mRNA (cDNA clone IMAGE:4160949).
AB061276 - Mus musculus CMAH mRNA for CMP-NeuAc hydroxylase, complete cds, major form of alternative splicing.
AB061277 - Mus musculus CMAH mRNA for CMP-NeuAc hydroxylase, complete cds, minor form of alternative splicing.
AK166486 - Mus musculus mammary gland RCB-0527 Jyg-MC(B) cDNA, RIKEN full-length enriched library, clone:G930028C23 product:cytidine monophospho-N-acetylneuraminic acid hydroxylase, full insert sequence.
BC055079 - Mus musculus cytidine monophospho-N-acetylneuraminic acid hydroxylase, mRNA (cDNA clone MGC:60630 IMAGE:30077348), complete cds.
AK145110 - Mus musculus mammary gland RCB-0526 Jyg-MC(A) cDNA, RIKEN full-length enriched library, clone:G830046F18 product:cytidine monophospho-N-acetylneuraminic acid hydroxylase, full insert sequence.
D21826 - Mus musculus mRNA for CMP-N-acetylneuraminic acid hydroxylase, complete cds.
AK083394 - Mus musculus 2 days neonate thymus thymic cells cDNA, RIKEN full-length enriched library, clone:C920028L09 product:cytidine monophospho-N-acetylneuraminic acid hydroxylase, full insert sequence.
AK145199 - Mus musculus mammary gland RCB-0527 Jyg-MC(B) cDNA, RIKEN full-length enriched library, clone:G930017O18 product:cytidine monophospho-N-acetylneuraminic acid hydroxylase, full insert sequence.
AK040274 - Mus musculus 0 day neonate thymus cDNA, RIKEN full-length enriched library, clone:A430082J01 product:CMP-N-ACETYLNEURAMINIC ACID HYDROXYLASE homolog [Mus musculus], full insert sequence.

-  Other Names for This Gene
  Alternate Gene Symbols: CMAH_MOUSE, ENSMUST00000224953.1, Q61419, Q7TMR9, Q8JZM9, uc288lnr.1, uc288lnr.2
UCSC ID: ENSMUST00000224953.2
RefSeq Accession: NM_001111110
Protein: Q61419 (aka CMAH_MOUSE)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.