Cmah cytidine monophospho-N-acetylneuraminic acid hydroxylase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cmahprovided by MGI
Official Full Name: cytidine monophospho-N-acetylneuraminic acid hydroxylaseprovided by MGI
Primary source: MGI:MGI:103227
See related: Ensembl:ENSMUSG00000016756 AllianceGenome:MGI:103227
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables CMP-N-acetylneuraminate monooxygenase activity. Acts upstream of or within CMP-N-acetylneuraminate metabolic process. Located in cytoplasm. Orthologous to human CMAHP (cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in spleen adult (RPKM 1.9), liver adult (RPKM 1.7) and 14 other tissues See more
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Genomic context

Location:: 13 A3.1; 13 10.34 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (24511387..24661272)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (24327404..24477289)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cmah deficiency blunts cellular senescence in adipose tissues and improves whole-body glucose metabolism in aged mice.
Title: Cmah deficiency blunts cellular senescence in adipose tissues and improves whole-body glucose metabolism in aged mice.
Human evolutionary loss of CMAH likely contributes to atherosclerosis predisposition via multiple intrinsic and extrinsic mechanisms.
Title: Human species-specific loss of CMP-N-acetylneuraminic acid hydroxylase enhances atherosclerosis via intrinsic and extrinsic mechanisms.
These findings have the potential to significantly advance our understanding of how this enigmatic tumor-associated antigen is produced in humans, and also suggest a possible mechanism of action of anti-tumor antibodies that recognize hypoxia markers, such as 14F7.
Title: Hypothesis: Hypoxia induces de novo synthesis of NeuGc gangliosides in humans through CMAH domain substitute.
this study shows that Cmah(-/-) mice manifest a decreased survival in endotoxemia following bacterial lipopolysaccharide injection, and that macrophages from Cmah(-/-) mice secrete more inflammatory cytokines with LPS stimulation and show more phagocytic activity
Title: Loss of CMAH during Human Evolution Primed the Monocyte-Macrophage Lineage toward a More Inflammatory and Phagocytic State.
Used CMP-Neu5Ac Hydroxylase null mouse models to study the modification/turnover of gene products that are altered in humans due to evolutionary loss of Neu5Gc.
Title: CMP-Neu5Ac Hydroxylase Null Mice as a Model for Studying Metabolic Disorders Caused by the Evolutionary Loss of Neu5Gc in Humans.
The target miRNAs are closely associated with dysregulation of insulin/PI3K-AKT signaling, suggesting that the Cmah-null mice could be a useful model for studying diabetes.
Title: MicroRNA dysregulation in liver and pancreas of CMP-Neu5Ac hydroxylase null mice disrupts insulin/PI3K-AKT signaling.
Mice bearing a human-like deletion of the Cmah gene serve as an important model for the study of abnormal pathogenesis and/or metabolism caused by the evolutionary loss of Neu5Gc synthesis in humans.
Title: Gene expression and pathway analysis of effects of the CMAH deactivation on mouse lung, kidney and heart.
In vitro T cell proliferation and activation is augmented in Cmah-deficient mice.
Title: Enhanced T cell function in a mouse model of human glycosylation.
This study showed that mice bearing a human-like deletion of the Cmah gene exhibit fasting hyperglycemia and glucose intolerance following a high-fat diet.
Title: Pancreatic beta-cell failure in obese mice with human-like CMP-Neu5Ac hydroxylase deficiency.
A human-specific deletion in mouse Cmah increases disease severity in the mdx model of Duchenne muscular dystrophy.
Title: A human-specific deletion in mouse Cmah increases disease severity in the mdx model of Duchenne muscular dystrophy.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (5) 1 citation

General gene information

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Markers

px-64b6 (e-PCR)
- UniSTS:258088

RH125907 (e-PCR)
- UniSTS:162629

px-50g7 (e-PCR)
- UniSTS:257891

D13Mit15 (e-PCR), detects polymorphism
- UniSTS:126972

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 2 iron, 2 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables CMP-N-acetylneuraminate monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables CMP-N-acetylneuraminate monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables CMP-N-acetylneuraminate monooxygenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables iron-sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in CMP-N-acetylneuraminate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within CMP-N-acetylneuraminate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of Wnt signaling pathway	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cytidine monophosphate-N-acetylneuraminic acid hydroxylase

Names: CMP-N-acetylneuraminate monooxygenase; CMP-N-acetylneuraminic acid hydroxylase; CMP-Neu5Ac hydroxylase; CMP-NeuAc hydroxylase

NP_001104580.1

EC 1.14.18.2

NP_001271448.1

EC 1.14.18.2

NP_001271449.1

EC 1.14.18.2

NP_031743.3

EC 1.14.18.2

XP_011242567.1

EC 1.14.18.2

XP_011242568.1

EC 1.14.18.2

XP_011242576.1

EC 1.14.18.2

XP_036013735.1

EC 1.14.18.2

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001111110.2 → NP_001104580.1 cytidine monophosphate-N-acetylneuraminic acid hydroxylase isoform a

See identical proteins and their annotated locations for NP_001104580.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Variants 1, 2, and 3 encode the same protein (isoform a).

Source sequence(s)

AA122526, AB061276, AK083394, AL589744, AL590864

Consensus CDS

CCDS26376.1

UniProtKB/Swiss-Prot

Q61419, Q7TMR9, Q8JZM9

UniProtKB/TrEMBL

Q3TLI9

Related

ENSMUSP00000129007.2, ENSMUST00000167746.8

Conserved Domains (3) summary

COG2220
Location:135 → 252

UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]

cd03473
Location:6 → 112

Rieske_CMP_Neu5Ac_hydrolase_N; Cytidine monophosphate-N-acetylneuraminic acid (CMP Neu5Ac) hydroxylase family, N-terminal Rieske domain; The Rieske domain is a [2Fe-2S] cluster binding domain involved in electron transfer. CMP Neu5Ac hydroxylase is the key enzyme for the synthesis of ...

cl23716
Location:138 → 208

metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
NM_001284519.1 → NP_001271448.1 cytidine monophosphate-N-acetylneuraminic acid hydroxylase isoform a

See identical proteins and their annotated locations for NP_001271448.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AA122526, AB061277, AK083394, AL589744, AL590864

Consensus CDS

CCDS26376.1

UniProtKB/Swiss-Prot

Q61419, Q7TMR9, Q8JZM9

UniProtKB/TrEMBL

Q3TLI9

Related

ENSMUSP00000061045.6, ENSMUST00000050859.13

Conserved Domains (3) summary

COG2220
Location:135 → 252

UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]

cd03473
Location:6 → 112

Rieske_CMP_Neu5Ac_hydrolase_N; Cytidine monophosphate-N-acetylneuraminic acid (CMP Neu5Ac) hydroxylase family, N-terminal Rieske domain; The Rieske domain is a [2Fe-2S] cluster binding domain involved in electron transfer. CMP Neu5Ac hydroxylase is the key enzyme for the synthesis of ...

cl23716
Location:138 → 208

metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
NM_001284520.1 → NP_001271449.1 cytidine monophosphate-N-acetylneuraminic acid hydroxylase isoform b

See identical proteins and their annotated locations for NP_001271449.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate in-frame exon in the coding region, compared to variant 3. The resulting protein (isoform b) is shorter than isoform a.

Source sequence(s)

AA122526, AK083394, AL589744, BC055079, CA577904

UniProtKB/TrEMBL

Q3TLI9

Related

ENSMUSP00000153248.2, ENSMUST00000224819.2

Conserved Domains (3) summary

COG2220
Location:135 → 252

UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]

cd03473
Location:6 → 112

Rieske_CMP_Neu5Ac_hydrolase_N; Cytidine monophosphate-N-acetylneuraminic acid (CMP Neu5Ac) hydroxylase family, N-terminal Rieske domain; The Rieske domain is a [2Fe-2S] cluster binding domain involved in electron transfer. CMP Neu5Ac hydroxylase is the key enzyme for the synthesis of ...

cl23716
Location:138 → 208

metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
NM_007717.5 → NP_031743.3 cytidine monophosphate-N-acetylneuraminic acid hydroxylase isoform a

See identical proteins and their annotated locations for NP_031743.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. Variants 1, 2, and 3 encode the same protein (isoform a).

Source sequence(s)

AA122526, AK083394, AL589744, BC055079, CA577904

Consensus CDS

CCDS26376.1

UniProtKB/Swiss-Prot

Q61419, Q7TMR9, Q8JZM9

UniProtKB/TrEMBL

Q3TLI9

Related

ENSMUSP00000153495.2, ENSMUST00000224657.2

Conserved Domains (3) summary

COG2220
Location:135 → 252

UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]

cd03473
Location:6 → 112

Rieske_CMP_Neu5Ac_hydrolase_N; Cytidine monophosphate-N-acetylneuraminic acid (CMP Neu5Ac) hydroxylase family, N-terminal Rieske domain; The Rieske domain is a [2Fe-2S] cluster binding domain involved in electron transfer. CMP Neu5Ac hydroxylase is the key enzyme for the synthesis of ...

cl23716
Location:138 → 208

metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

24511387..24661272

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036157842.1 → XP_036013735.1 cytidine monophosphate-N-acetylneuraminic acid hydroxylase isoform X3
XM_011244265.4 → XP_011242567.1 cytidine monophosphate-N-acetylneuraminic acid hydroxylase isoform X1

See identical proteins and their annotated locations for XP_011242567.1

UniProtKB/TrEMBL

Q3TLI9

Conserved Domains (2) summary

COG2220
Location:138 → 255

UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]

cd03473
Location:9 → 115

Rieske_CMP_Neu5Ac_hydrolase_N; Cytidine monophosphate-N-acetylneuraminic acid (CMP Neu5Ac) hydroxylase family, N-terminal Rieske domain; The Rieske domain is a [2Fe-2S] cluster binding domain involved in electron transfer. CMP Neu5Ac hydroxylase is the key enzyme for the synthesis of ...
XM_011244266.4 → XP_011242568.1 cytidine monophosphate-N-acetylneuraminic acid hydroxylase isoform X1

See identical proteins and their annotated locations for XP_011242568.1

UniProtKB/TrEMBL

Q3TLI9

Conserved Domains (2) summary

COG2220
Location:138 → 255

UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]

cd03473
Location:9 → 115

Rieske_CMP_Neu5Ac_hydrolase_N; Cytidine monophosphate-N-acetylneuraminic acid (CMP Neu5Ac) hydroxylase family, N-terminal Rieske domain; The Rieske domain is a [2Fe-2S] cluster binding domain involved in electron transfer. CMP Neu5Ac hydroxylase is the key enzyme for the synthesis of ...
XM_011244274.4 → XP_011242576.1 cytidine monophosphate-N-acetylneuraminic acid hydroxylase isoform X2

UniProtKB/TrEMBL

Q3TLI9

Conserved Domains (2) summary

COG2220
Location:138 → 255

UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]

cd03473
Location:9 → 115

Rieske_CMP_Neu5Ac_hydrolase_N; Cytidine monophosphate-N-acetylneuraminic acid (CMP Neu5Ac) hydroxylase family, N-terminal Rieske domain; The Rieske domain is a [2Fe-2S] cluster binding domain involved in electron transfer. CMP Neu5Ac hydroxylase is the key enzyme for the synthesis of ...