CMAS cytidine monophosphate N-acetylneuraminic acid synthetase [Homo sapiens (human)] - Gene

Summary

Official Symbol: CMASprovided by HGNC
Official Full Name: cytidine monophosphate N-acetylneuraminic acid synthetaseprovided by HGNC
Primary source: HGNC:HGNC:18290
See related: Ensembl:ENSG00000111726 MIM:603316; AllianceGenome:HGNC:18290
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CSS
Summary: This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Expression: Ubiquitous expression in testis (RPKM 46.2), colon (RPKM 38.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p12.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (22046218..22065668)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (21924274..21943724)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (22199152..22218602)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family.
Title: A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family.
FXR1P interacts with CMAS, and that FXR1P may enhance the activation of sialic acid via interaction with CMAS, and increase GM1 levels to affect the development of the nervous system, thus providing evidence for further research into the pathogenesis of FXS.
Title: CMP‑N‑acetylneuraminic acid synthetase interacts with fragile X related protein 1.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G62289 (e-PCR)
- UniSTS:139347

STS-W85899 (e-PCR)
- UniSTS:48041

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acylneuraminate cytidylyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info

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

Component	Evidence Code	Pubs
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	HDA 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 synthetase; CMP-NeuNAc synthase; CMP-NeuNAc synthetase; CMP-sialic acid synthetase; cytidine 5'-monophosphate N-acetylneuraminic acid synthetase

NP_061156.1

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_018686.6 → NP_061156.1 N-acylneuraminate cytidylyltransferase

See identical proteins and their annotated locations for NP_061156.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the protein.

Source sequence(s)

AL832975, DA344740, DB527942

Consensus CDS

CCDS8696.1

UniProtKB/Swiss-Prot

Q8NFW8, Q96AX5, Q9NQZ0

UniProtKB/TrEMBL

Q53GF0

Related

ENSP00000229329.2, ENST00000229329.7

Conserved Domains (2) summary

cd02513
Location:44 → 259

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

cl21460
Location:270 → 421

HAD_like; Haloacid Dehalogenase-like Hydrolases

RNA

NR_135117.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC016609, DA344740, DB527942

Related

ENST00000534981.5