CMAS - cytidine monophosphate N-acetylneuraminic acid synthetase Gene

Also Known as CSS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55907

About CMAS

Cytogenetic location: 12p12.1 Genomic coordinates (GRCh38): 12:22,046,218-22,065,668 (from NCBI)

This gene has 5 transcripts (splice variants) and 249 orthologues. Ubiquitous expression in testis (RPKM 46.2), colon (RPKM 38.5) and 25 other tissues.

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]

CMAS Products (1)

mRNA	Protein	Name
NM_018686.6	NP_061156.1	N-acylneuraminate cytidylyltransferase

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in CMP-N-acetylneuraminate biosynthetic process	IMP IMP: Inferred from mutant phenotype	31121216	GOA
involved in glycosylation	IMP IMP: Inferred from mutant phenotype	31121216	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CMAS Protein Structure

CTP_transf_3

0
100
200
300
400
434 a.a.

Protein Preferred Names	Protein Names
N-acylneuraminate cytidylyltransferase	CMP-N-acetylneuraminic acid synthase

Related Diseases

Diseases	Alias
Palmoplantar Keratoderma And Congenital Alopecia 2	Cataract-Alopecia-Sclerodactyly Syndrome Cass Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia PPKCA2 Autosomal Recessive Palmoplantar Hyperkeratosis And Congenital Alopecia Palmoplantar Keratoderma And Congenital Alopecia, Wallis Type Ppk-Ca, Wallis Type Cataract, Alopecia, Sclerodactyly Ppkca, Wallis Type Ppkca Wallis Type Cataract, Alopecia, Sclerodactyly Syndrome
Coffin-Siris Syndrome 2	CSS2 Mrd14 Mental Retardation, Autosomal Dominant 14 Autosomal Dominant Mental Retardation 14 Coffin-Siris Syndrome, Type 2
Coffin-Siris Syndrome 4	CSS4 Mrd16 Mental Retardation, Autosomal Dominant 16 Autosomal Dominant Mental Retardation 16 Coffin-Siris Syndrome, Type 4
Brooke-Spiegler Syndrome	Cyld Cutaneous Syndrome Spiegler-Brooke Syndrome Familial Cylindromatosis BRSS Bss Sbs Multiple Familial Trichoepithelioma Ancell-Spiegler Cylindromas Familial Multiple Trichoepithelioma Trichoepithelioma Fc Mft Multiple Familial Trichoepitheliomas Ccs Turban Tumor Syndrome Schilbach-Rott Syndrome Eccrine Dermal Cylindroma Familial Multiple Trichoepitheliomata
Parotid Disease	Parotid Diseases
Siderosis	Pulmonary Siderosis Deposition Of Iron Arc-Welders' Disease Arc-Welders' Lung Arc-Welders' Nodulation Arc-Welders' Pneumoconiosis Iron Oxide Lung Iron Pneumoconiosis Pneumoconiosis Siderotico Siderotic Lung Disease Steel Grinders' Disease Welders' Lung Welders' Siderosis Lung Fibrosis With Siderosis
Hemosiderosis	Haemosiderosis Iron Overload
Parotitis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (17)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P1098	Ac2-26	Inhibitor	99.43%	Unkown
HY-W013508	I2959		98.28%	Unkown
HY-101106	AR7	Antagonist	99.38%	Unkown
HY-134923	CA77.1	Inducer	99.92%	Unkown
HY-112486	TA-316		99.50%	Unkown
HY-112483	QX77	Inducer	99.48%	Unkown
HY-155747	FDW028	Inhibitor	99.51%	Unkown
HY-P1098A	Ac2-26 TFA	Inhibitor	98.09%	Unkown
HY-P1098B	Ac2-26 ammonium	Degrader	97.45%	Unkown
HY-173150	Hapalindole Q	Ligand	/	Unkown
HY-RS02853	CMA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS02854	CMAS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19313	Cma1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22126	Cmas Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25439	Mas1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25804	Cma1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28648	Cmas Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CMAS	VGNC	VGNC:60993
Rattus norvegicus	CMAS	RGD	RGD:1310911
Mus musculus	CMAS	MGD	MGI:1337124
Macaca mulatta	CMAS	VGNC	VGNC:71201
Canis familiaris	CMAS	VGNC	VGNC:39375
Bos taurus	CMAS	VGNC	VGNC:27476
Others	CMAS	NCBI