• Gene id: 55907

Gene Summary

• Gene Symbol: CMAS   Gene   UCSC   Ensembl
• Aliases: CSS
• Gene name: cytidine monophosphate N-acetylneuraminic acid synthetase
• Alternate names: N-acylneuraminate cytidylyltransferase, 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,
• Gene location: 12p12.1 (22046173: 22065673)     Exons: 8     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 603316

Protein Summary

• Protein general information: Q8NFW8  
  • Name: N acylneuraminate cytidylyltransferase (EC 2.7.7.43) (CMP N acetylneuraminic acid synthase) (CMP NeuNAc synthase)
  • Length: 434  
  • Mass: 48379
  • 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
• Sequence:

  MDSVEKGAATSVSNPRGRPSRGRPPKLQRNSRGGQGRGVEKPPHLAALILARGGSKGIPLKNIKHLAGVPLIGWV
  LRAALDSGAFQSVWVSTDHDEIENVAKQFGAQVHRRSSEVSKDSSTSLDAIIEFLNYHNEVDIVGNIQATSPCLH
  PTDLQKVAEMIREEGYDSVFSVVRRHQFRWSEIQKGVREVTEPLNLNPAKRPRRQDWDGELYENGSFYFAKRHLI
  EMGYLQGGKMAYYEMRAEHSVDIDVDIDWPIAEQRVLRYGYFGKEKLKEIKLLVCNIDGCLTNGHIYVSGDQKEI
  ISYDVKDAIGISLLKKSGIEVRLISERACSKQTLSSLKLDCKMEVSVSDKLAVVDEWRKEMGLCWKEVAYLGNEV
  SDEECLKRVGLSGAPADACSTAQKAVGYICKCNGGRGAIREFAEHICLLMEKVNNSCQK

• Structural information:
  • Interpro: IPR003329  IPR036412  IPR023214  IPR029044  
  • STRING: ENSP00000229329
• Other Databases: GeneCards:  CMAS  Malacards:  CMAS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008781	N-acylneuraminate cytidylyltransferase activity	IBA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008781	N-acylneuraminate cytidylyltransferase activity	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006054	N-acetylneuraminate metabolic process	IEA	biological process
GO:0005634	nucleus	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00520	Amino sugar and nucleotide sugar metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881