Cmas cytidine monophospho-N-acetylneuraminic acid synthetase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cmasprovided by MGI
Official Full Name: cytidine monophospho-N-acetylneuraminic acid synthetaseprovided by MGI
Primary source: MGI:MGI:1337124
See related: Ensembl:ENSMUSG00000030282 AllianceGenome:MGI:1337124
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
Also known as: CMPNeu5Ac; D6Bwg0250e
Summary: Enables N-acylneuraminate cytidylyltransferase activity. Involved in CMP-N-acetylneuraminate biosynthetic process. Is active in nucleoplasm. Is expressed in several structures, including alimentary system; genitourinary system; liver; nervous system; and sensory organ. Used to study focal segmental glomerulosclerosis. Orthologous to human CMAS (cytidine monophosphate N-acetylneuraminic acid synthetase). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in liver E14 (RPKM 52.8), liver E14.5 (RPKM 43.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 G2; 6 74.66 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (142702468..142721440)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (142756686..142775714)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase and Solute Carrier Family 35 Member A1 Are Required for Reovirus Binding and Infection.
Title: Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase and Solute Carrier Family 35 Member A1 Are Required for Reovirus Binding and Infection.
CRISPR/Cas9-mediated knock out of the CMAS gene, encoding a key enzyme in the sialylation pathway, in the mouse colorectal cancer MC38 cell line completely abrogated cell surface expression of sialic acids (MC38-Sia(null) ) and, unexpectedly, significantly increased in vivo tumor growth compared to the control MC38-MOCK cells.
Title: Disruption of sialic acid metabolism drives tumor growth by augmenting CD8(+) T cell apoptosis.
Sialylation is dispensable for early murine embryonic development in vitro in CMAS-null embryonic stem cells.
Title: Sialylation Is Dispensable for Early Murine Embryonic Development in Vitro.
The authors provide evidence that the C-terminal domain of CMP-Sialic Acid Synthetase (CSS) serves as a platform for the quaternary organization governing the kinetic properties of the physiologically active enzyme as demonstrated in kinetic studies.[CSS]
Title: A C-terminal phosphatase module conserved in vertebrate CMP-sialic acid synthetases provides a tetramerization interface for the physiologically active enzyme.
the rainbow trout CMP-sialic acid synthetase utilises a nuclear localization signal different from that identified in the mouse enzyme
Title: The rainbow trout CMP-sialic acid synthetase utilises a nuclear localization signal different from that identified in the mouse enzyme.
results describe the crystal structure of the N-terminal catalytically active domain of the murine 5-N-acetylneuraminic acid synthetase in complex with the reaction product
Title: The crystal structure of murine CMP-5-N-acetylneuraminic acid synthetase.
Nuclear localization signal of murine CMP-Neu5Ac synthetase includes residues required for both nuclear targeting and enzymatic activity
Title: Nuclear localization signal of murine CMP-Neu5Ac synthetase includes residues required for both nuclear targeting and enzymatic activity.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW208911 (e-PCR)
- UniSTS:179490

AJ006215 (e-PCR)
- UniSTS:179492

Cmas (e-PCR), detects polymorphism
- UniSTS:141354

CMAS (e-PCR)
- UniSTS:503973

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables N-acylneuraminate cytidylyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables N-acylneuraminate cytidylyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables N-acylneuraminate cytidylyltransferase activity	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
involved_in CMP-N-acetylneuraminate biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within CMP-N-acetylneuraminate biosynthetic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in N-acetylneuraminate metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: N-acylneuraminate cytidylyltransferase

Names: CMP-N-acetylneuraminic acid synthase; CMP-N-acetylneuraminic acid synthetase; CMP-Neu5Ac synthase; CMP-NeuNAc synthase; CMP-NeuNAc synthetase; CMP-sialic acid synthetase

NP_001396504.1

EC 2.7.7.43

NP_001396505.1

EC 2.7.7.43

NP_034038.2

EC 2.7.7.43

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_001409575.1 → NP_001396504.1 N-acylneuraminate cytidylyltransferase isoform 2

Status: VALIDATED

Source sequence(s)

AC164104
NM_001409576.1 → NP_001396505.1 N-acylneuraminate cytidylyltransferase isoform 3

Status: VALIDATED

Source sequence(s)

AC164104
NM_009908.3 → NP_034038.2 N-acylneuraminate cytidylyltransferase isoform 1

See identical proteins and their annotated locations for NP_034038.2

Status: VALIDATED

Source sequence(s)

AC164104

Consensus CDS

CCDS20687.1

UniProtKB/Swiss-Prot

O88719, Q8C330, Q8K2G7, Q99KK2

UniProtKB/TrEMBL

A0A0R4J0B4

Related

ENSMUSP00000032419.9, ENSMUST00000032419.9

Conserved Domains (2) summary

cd02513
Location:42 → 257

CMP-NeuAc_Synthase; CMP-NeuAc_Synthase activates N-acetylneuraminic acid by adding CMP moiety

cl21460
Location:268 → 419

HAD_like; Haloacid Dehalogenase-like Hydrolases