Hmdb loader
Survey
Identification
HMDB Protein ID HMDBP00399
Secondary Accession Numbers
  • 5636
Name N-acylneuraminate cytidylyltransferase
Synonyms
  1. CMP-N-acetylneuraminic acid synthase
  2. CMP-NeuNAc synthase
Gene Name CMAS
Protein Type Enzyme
Biological Properties
General Function Involved in lipopolysaccharide biosynthetic process
Specific 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 (Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN).
Pathways
  • Amino sugar and nucleotide sugar metabolism
  • Amino Sugar Metabolism
  • G(M2)-Gangliosidosis: Variant B, Tay-sachs disease
  • N-acetylneuraminate metabolism
  • Salla Disease/Infantile Sialic Acid Storage Disease
  • Sialuria or French Type Sialuria
  • Tay-Sachs Disease
Reactions
Cytidine triphosphate + N-acylneuraminate → Pyrophosphate + Cytidine 5'-monophosphate-N-acetylneuraminic acid details
Cytidine triphosphate + N-Acetylneuraminic acid → Pyrophosphate + Cytidine 5'-monophosphate-N-acetylneuraminic acid details
Cytidine triphosphate + N-Glycolylneuraminic acid → Pyrophosphate + CMP-N-glycoloylneuraminate details
GO Classification
Biological Process
lipopolysaccharide biosynthetic process
N-acetylneuraminate metabolic process
Cellular Component
nucleus
Molecular Function
N-acylneuraminate cytidylyltransferase activity
Process
metabolic process
primary metabolic process
lipopolysaccharide biosynthetic process
lipid metabolic process
lipid biosynthetic process
Cellular Location
  1. Nucleus
Gene Properties
Chromosome Location 12
Locus 12p12.1
SNPs CMAS
Gene Sequence
>1305 bp
ATGGACTCGGTGGAGAAGGGGGCCGCCACCTCCGTCTCCAACCCGCGGGGGCGACCGTCC
CGGGGCCGGCCGCCGAAGCTGCAGCGCAACTCTCGCGGCGGCCAGGGCCGAGGTGTGGAG
AAGCCCCCGCACCTGGCAGCCCTAATTCTGGCCCGGGGAGGCAGCAAAGGCATCCCCCTG
AAGAACATTAAGCACCTGGCGGGGGTCCCGCTCATTGGCTGGGTCCTGCGTGCGGCCCTG
GATTCAGGGGCCTTCCAGAGTGTATGGGTTTCGACAGACCATGATGAAATTGAGAATGTG
GCCAAACAATTTGGTGCACAAGTTCATCGAAGAAGTTCTGAAGTTTCAAAAGACAGCTCT
ACCTCACTAGATGCCATCATAGAATTTCTTAATTATCATAATGAGGTTGACATTGTAGGA
AATATTCAAGCTACTTCTCCATGTTTACATCCTACTGATCTTCAAAAAGTTGCAGAAATG
ATTCGAGAAGAAGGATATGATTCTGTTTTCTCTGTTGTGAGACGCCATCAGTTTCGATGG
AGTGAAATTCAGAAAGGAGTTCGTGAAGTGACCGAACCTCTGAATTTAAATCCAGCTAAA
CGGCCTCGTCGACAAGACTGGGATGGAGAATTATATGAAAATGGCTCATTTTATTTTGCT
AAAAGACATTTGATAGAGATGGGTTACTTGCAGGGTGGAAAAATGGCATACTACGAAATG
CGAGCTGAACATAGTGTGGATATAGATGTGGATATTGATTGGCCTATTGCAGAGCAAAGA
GTATTAAGATATGGCTATTTTGGCAAAGAGAAGCTTAAGGAAATAAAACTTTTGGTTTGC
AATATTGATGGATGTCTCACCAATGGCCACATTTATGTATCAGGAGACCAAAAAGAAATA
ATATCTTATGATGTAAAAGATGCTATTGGGATAAGTTTATTAAAGAAAAGTGGTATTGAG
GTGAGGCTAATCTCAGAAAGGGCCTGTTCAAAGCAGACGCTGTCTTCTTTAAAACTGGAT
TGCAAAATGGAAGTCAGTGTATCAGACAAGCTAGCAGTTGTAGATGAATGGAGAAAAGAA
ATGGGCCTGTGCTGGAAAGAAGTGGCATATCTTGGAAATGAAGTGTCTGATGAAGAGTGC
TTGAAGAGAGTGGGCCTAAGTGGCGCTCCTGCTGATGCCTGTTCTACTGCCCAGAAGGCT
GTTGGATACATTTGCAAATGTAATGGTGGCCGTGGTGCCATCCGAGAATTTGCAGAGCAC
ATTTGCCTACTAATGGAAAAGGTTAATAATTCATGCCAAAAATAG
Protein Properties
Number of Residues 434
Molecular Weight 48378.835
Theoretical pI 7.933
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>N-acylneuraminate cytidylyltransferase
MDSVEKGAATSVSNPRGRPSRGRPPKLQRNSRGGQGRGVEKPPHLAALILARGGSKGIPL
KNIKHLAGVPLIGWVLRAALDSGAFQSVWVSTDHDEIENVAKQFGAQVHRRSSEVSKDSS
TSLDAIIEFLNYHNEVDIVGNIQATSPCLHPTDLQKVAEMIREEGYDSVFSVVRRHQFRW
SEIQKGVREVTEPLNLNPAKRPRRQDWDGELYENGSFYFAKRHLIEMGYLQGGKMAYYEM
RAEHSVDIDVDIDWPIAEQRVLRYGYFGKEKLKEIKLLVCNIDGCLTNGHIYVSGDQKEI
ISYDVKDAIGISLLKKSGIEVRLISERACSKQTLSSLKLDCKMEVSVSDKLAVVDEWRKE
MGLCWKEVAYLGNEVSDEECLKRVGLSGAPADACSTAQKAVGYICKCNGGRGAIREFAEH
ICLLMEKVNNSCQK
GenBank ID Protein 8515843
UniProtKB/Swiss-Prot ID Q8NFW8
UniProtKB/Swiss-Prot Entry Name NEUA_HUMAN
PDB IDs Not Available
GenBank Gene ID AF271388
GeneCard ID CMAS
GenAtlas ID CMAS
HGNC ID HGNC:18290
References
General References
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  3. Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed:17974005 ]
  4. Lawrence SM, Huddleston KA, Tomiya N, Nguyen N, Lee YC, Vann WF, Coleman TA, Betenbaugh MJ: Cloning and expression of human sialic acid pathway genes to generate CMP-sialic acids in insect cells. Glycoconj J. 2001 Mar;18(3):205-13. [PubMed:11602804 ]