Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55907
Gene name	Cytidine monophosphate N-acetylneuraminic acid synthetase
Gene symbol	CMAS
Synonyms (NCBI Gene)	CSS
Chromosome	12
Chromosome location	12p12.1
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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019892	hsa-miR-375	Microarray	20215506
MIRT025499	hsa-miR-34a-5p	Proteomics	21566225
MIRT044783	hsa-miR-320a	CLASH	23622248
MIRT039435	hsa-miR-421	CLASH	23622248
MIRT036233	hsa-miR-320b	CLASH	23622248
MIRT898395	hsa-miR-3064-5p	CLIP-seq
MIRT898396	hsa-miR-3154	CLIP-seq
MIRT898397	hsa-miR-3185	CLIP-seq
MIRT898398	hsa-miR-338-5p	CLIP-seq
MIRT898399	hsa-miR-3609	CLIP-seq
MIRT898400	hsa-miR-3613-3p	CLIP-seq
MIRT898401	hsa-miR-4477a	CLIP-seq
MIRT898402	hsa-miR-4699-3p	CLIP-seq
MIRT898403	hsa-miR-4703-3p	CLIP-seq
MIRT898404	hsa-miR-5095	CLIP-seq
MIRT898405	hsa-miR-520d-5p	CLIP-seq
MIRT898406	hsa-miR-520g	CLIP-seq
MIRT898407	hsa-miR-520h	CLIP-seq
MIRT898408	hsa-miR-524-5p	CLIP-seq
MIRT898409	hsa-miR-539	CLIP-seq
MIRT898410	hsa-miR-548ah	CLIP-seq
MIRT898411	hsa-miR-633	CLIP-seq
MIRT898412	hsa-miR-892b	CLIP-seq
MIRT1966383	hsa-miR-3200-5p	CLIP-seq
MIRT898398	hsa-miR-338-5p	CLIP-seq
MIRT1966384	hsa-miR-33a	CLIP-seq
MIRT1966385	hsa-miR-33b	CLIP-seq
MIRT898399	hsa-miR-3609	CLIP-seq
MIRT1966386	hsa-miR-4251	CLIP-seq
MIRT1966387	hsa-miR-4329	CLIP-seq
MIRT898402	hsa-miR-4699-3p	CLIP-seq
MIRT898405	hsa-miR-520d-5p	CLIP-seq
MIRT898406	hsa-miR-520g	CLIP-seq
MIRT898407	hsa-miR-520h	CLIP-seq
MIRT898408	hsa-miR-524-5p	CLIP-seq
MIRT898409	hsa-miR-539	CLIP-seq
MIRT898410	hsa-miR-548ah	CLIP-seq
MIRT1966388	hsa-miR-548c-3p	CLIP-seq
MIRT1966389	hsa-miR-548u	CLIP-seq
MIRT1966390	hsa-miR-622	CLIP-seq
MIRT2202244	hsa-miR-194	CLIP-seq
MIRT2202245	hsa-miR-3074-3p	CLIP-seq
MIRT2202246	hsa-miR-3143	CLIP-seq
MIRT2202247	hsa-miR-3163	CLIP-seq
MIRT2202248	hsa-miR-323-3p	CLIP-seq
MIRT2202249	hsa-miR-3607-3p	CLIP-seq
MIRT2202250	hsa-miR-3686	CLIP-seq
MIRT2202251	hsa-miR-4639-3p	CLIP-seq
MIRT2202252	hsa-miR-4668-3p	CLIP-seq
MIRT2202253	hsa-miR-4719	CLIP-seq
MIRT2202254	hsa-miR-4733-5p	CLIP-seq
MIRT2202255	hsa-miR-4802-3p	CLIP-seq
MIRT2202256	hsa-miR-543	CLIP-seq
MIRT2202257	hsa-miR-605	CLIP-seq
MIRT898398	hsa-miR-338-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006054	Process	N-acetylneuraminate metabolic process	IEA
GO:0006055	Process	CMP-N-acetylneuraminate biosynthetic process	IEA
GO:0006055	Process	CMP-N-acetylneuraminate biosynthetic process	IMP	31121216
GO:0008781	Function	N-acylneuraminate cytidylyltransferase activity	IBA
GO:0008781	Function	N-acylneuraminate cytidylyltransferase activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0070085	Process	Glycosylation	IMP	31121216

MIM	HGNC	e!Ensembl
603316	18290	ENSG00000111726

Q8NFW8

Protein name

N-acylneuraminate cytidylyltransferase (EC 2.7.7.43) (CMP-N-acetylneuraminic acid synthase) (CMP-NeuNAc synthase)

Protein function

Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid. Has some activity toward NeuNAc, N-glycolylneuraminic acid (Neu

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02348	CTP_transf_3	46 → 303	Cytidylyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. Expressed in pancreas, kidney, liver, skeletal muscle, lung, placenta, brain, heart, colon, PBL, small intestine, ovary, testis, prostate, thymus and spleen. {ECO:0000269|PubMed:11602804}.

Sequence

MDSVEKGAATSVSNPRGRPSRGRPPKLQRNSRGGQGRGVEKPPHLAALILARGGSKGIPL
KNIKHLAGVPLIGWVLRAALDSGAFQSVWVSTDHDEIENVAKQFGAQVHRRSSEVSKDSS
TSLDAIIEFLNYHNEVDIVGNIQATSPCLHPTDLQKVAEMIREEGYDSVFSVVRRHQFRW
SEIQKGVREVTEPLNLNPAKRPRRQDWDGELYENGSFYFAKRHLIEMGYLQGGKMAYYEM
RAEHSVDIDVDIDWPIAEQRVLRYGYFGKEKLKEIKLLVCNIDGCLTNGHIYVSGDQKEI
ISYDVKDAIGISLLKKSGIEVRLISERACSKQTLSSLKLDCKMEVSVSDKLAVVDEWRKE
MGLCWKEVAYLGNEVSDEECLKRVGLSGAPADACSTAQKAVGYICKCNGGRGAIREFAEH
ICLLMEKVNNSCQK

Sequence length

434

Interactions

View interactions

	KEGG		Reactome
	Biosynthesis of various nucleotide sugars Metabolic pathways Biosynthesis of nucleotide sugars		Sialic acid metabolism

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
EPILEPSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	30539379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	22628087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	29756307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carney Triad	Carney Triad	BEFREE	19522824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28977873, 29137333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	27986833, 31038933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21345667, 26502222, 30018674, 30578646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23036577, 28287186, 30293904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	23763294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	23763294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	19522824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24366606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24366606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	29946800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	24366606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30349098, 31495922		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	40222041	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	29428936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	29756307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31180564, 31380282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21345667, 26502222, 29428936, 30045033, 31179077		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30155908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23036577, 28430643, 30045033, 30619744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	BEFREE	1659781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23763294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20581473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	19522824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31180564, 31380282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Artery Stenosis	Renal Artery Stenosis	BEFREE	28721152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28287186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	19522824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	28430643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30597654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	23763294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	30871883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	19336578, 31837440		★★★★★ ★☆☆☆☆ Found in Text Mining only

CMAS (cytidine monophosphate N-acetylneuraminic acid synthetase)