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Protein

N-acylneuraminate cytidylyltransferase

Gene

CMAS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).

Catalytic activityi

CTP + N-acylneuraminate = diphosphate + CMP-N-acylneuraminate.1 Publication

Pathwayi: N-acetylneuraminate metabolism

This protein is involved in the pathway N-acetylneuraminate metabolism, which is part of Amino-sugar metabolism.
View all proteins of this organism that are known to be involved in the pathway N-acetylneuraminate metabolism and in Amino-sugar metabolism.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei52 – 521SubstrateBy similarity
Binding sitei62 – 621SubstrateBy similarity
Binding sitei111 – 1111SubstrateBy similarity
Binding sitei120 – 1201SubstrateBy similarity
Binding sitei122 – 1221SubstrateBy similarity
Binding sitei143 – 1431SubstrateBy similarity
Active sitei201 – 2011By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Nucleotidyltransferase, Transferase

Enzyme and pathway databases

ReactomeiR-HSA-4085001. Sialic acid metabolism.
UniPathwayiUPA00628.

Names & Taxonomyi

Protein namesi
Recommended name:
N-acylneuraminate cytidylyltransferase (EC:2.7.7.43)
Alternative name(s):
CMP-N-acetylneuraminic acid synthase
Short name:
CMP-NeuNAc synthase
Gene namesi
Name:CMAS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:18290. CMAS.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: GO_Central
  • membrane Source: UniProtKB
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38519.

Polymorphism and mutation databases

BioMutaiCMAS.
DMDMi68059539.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 434434N-acylneuraminate cytidylyltransferasePRO_0000213199Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionineCombined sources1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ8NFW8.
MaxQBiQ8NFW8.
PaxDbiQ8NFW8.
PeptideAtlasiQ8NFW8.
PRIDEiQ8NFW8.

PTM databases

iPTMnetiQ8NFW8.
PhosphoSiteiQ8NFW8.
SwissPalmiQ8NFW8.

Expressioni

Tissue specificityi

Ubiquitously expressed. Expressed in pancreas, kidney, liver, skeletal muscle, lung, placenta, brain, heart, colon, PBL, small intestine, ovary, testis, prostate, thymus and spleen.1 Publication

Gene expression databases

BgeeiENSG00000111726.
CleanExiHS_CMAS.
ExpressionAtlasiQ8NFW8. baseline and differential.
GenevisibleiQ8NFW8. HS.

Organism-specific databases

HPAiHPA039905.

Interactioni

Subunit structurei

Homotetramer; the active enzyme is formed by a dimer of dimers.

Protein-protein interaction databases

BioGridi120993. 19 interactions.
IntActiQ8NFW8. 7 interactions.
STRINGi9606.ENSP00000229329.

Structurei

3D structure databases

ProteinModelPortaliQ8NFW8.
SMRiQ8NFW8. Positions 42-270, 274-431.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi15 – 3117BC1 motifAdd
BLAST
Motifi200 – 2067BC2 motif
Motifi269 – 2768BC3 motif

Domaini

The BC2 (basic cluster 2) motif is necessary and sufficient for the nuclear localization and contains the catalytic active site. The localization in the nucleus is however not required for the enzyme activity (By similarity).By similarity

Sequence similaritiesi

Belongs to the CMP-NeuNAc synthase family.Curated

Phylogenomic databases

eggNOGiENOG410IJVA. Eukaryota.
COG1083. LUCA.
COG1778. LUCA.
GeneTreeiENSGT00390000004237.
HOGENOMiHOG000284760.
HOVERGENiHBG052605.
InParanoidiQ8NFW8.
KOiK00983.
OMAiQVHRRSP.
OrthoDBiEOG091G0W03.
PhylomeDBiQ8NFW8.
TreeFamiTF324840.

Family and domain databases

Gene3Di3.40.50.1000. 1 hit.
3.90.550.10. 1 hit.
InterProiIPR003329. Cytidylyl_trans.
IPR023214. HAD-like_dom.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF02348. CTP_transf_3. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.
SSF56784. SSF56784. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NFW8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDSVEKGAAT SVSNPRGRPS RGRPPKLQRN SRGGQGRGVE KPPHLAALIL
60 70 80 90 100
ARGGSKGIPL KNIKHLAGVP LIGWVLRAAL DSGAFQSVWV STDHDEIENV
110 120 130 140 150
AKQFGAQVHR RSSEVSKDSS TSLDAIIEFL NYHNEVDIVG NIQATSPCLH
160 170 180 190 200
PTDLQKVAEM IREEGYDSVF SVVRRHQFRW SEIQKGVREV TEPLNLNPAK
210 220 230 240 250
RPRRQDWDGE LYENGSFYFA KRHLIEMGYL QGGKMAYYEM RAEHSVDIDV
260 270 280 290 300
DIDWPIAEQR VLRYGYFGKE KLKEIKLLVC NIDGCLTNGH IYVSGDQKEI
310 320 330 340 350
ISYDVKDAIG ISLLKKSGIE VRLISERACS KQTLSSLKLD CKMEVSVSDK
360 370 380 390 400
LAVVDEWRKE MGLCWKEVAY LGNEVSDEEC LKRVGLSGAP ADACSTAQKA
410 420 430
VGYICKCNGG RGAIREFAEH ICLLMEKVNN SCQK
Length:434
Mass (Da):48,379
Last modified:February 1, 2005 - v2
Checksum:iB303B6647EF81A3A
GO
Isoform 2 (identifier: Q8NFW8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     264-434: Missing.

Note: No experimental confirmation available.
Show »
Length:263
Mass (Da):29,561
Checksum:i5A51E1F0C98AB1DB
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti396 – 3961T → Y in AAM90580 (PubMed:11602804).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei264 – 434171Missing in isoform 2. 1 PublicationVSP_012764Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF397212 mRNA. Translation: AAM90580.1.
AF271388 mRNA. Translation: AAF76203.1.
AK022927 mRNA. Translation: BAB14311.1.
AL832975 mRNA. Translation: CAH56346.1.
BC016609 mRNA. Translation: AAH16609.1.
CCDSiCCDS8696.1. [Q8NFW8-1]
RefSeqiNP_061156.1. NM_018686.5. [Q8NFW8-1]
UniGeneiHs.311346.

Genome annotation databases

EnsembliENST00000229329; ENSP00000229329; ENSG00000111726. [Q8NFW8-1]
ENST00000534981; ENSP00000446239; ENSG00000111726. [Q8NFW8-2]
GeneIDi55907.
KEGGihsa:55907.
UCSCiuc001rfm.5. human. [Q8NFW8-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF397212 mRNA. Translation: AAM90580.1.
AF271388 mRNA. Translation: AAF76203.1.
AK022927 mRNA. Translation: BAB14311.1.
AL832975 mRNA. Translation: CAH56346.1.
BC016609 mRNA. Translation: AAH16609.1.
CCDSiCCDS8696.1. [Q8NFW8-1]
RefSeqiNP_061156.1. NM_018686.5. [Q8NFW8-1]
UniGeneiHs.311346.

3D structure databases

ProteinModelPortaliQ8NFW8.
SMRiQ8NFW8. Positions 42-270, 274-431.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120993. 19 interactions.
IntActiQ8NFW8. 7 interactions.
STRINGi9606.ENSP00000229329.

PTM databases

iPTMnetiQ8NFW8.
PhosphoSiteiQ8NFW8.
SwissPalmiQ8NFW8.

Polymorphism and mutation databases

BioMutaiCMAS.
DMDMi68059539.

Proteomic databases

EPDiQ8NFW8.
MaxQBiQ8NFW8.
PaxDbiQ8NFW8.
PeptideAtlasiQ8NFW8.
PRIDEiQ8NFW8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000229329; ENSP00000229329; ENSG00000111726. [Q8NFW8-1]
ENST00000534981; ENSP00000446239; ENSG00000111726. [Q8NFW8-2]
GeneIDi55907.
KEGGihsa:55907.
UCSCiuc001rfm.5. human. [Q8NFW8-1]

Organism-specific databases

CTDi55907.
GeneCardsiCMAS.
HGNCiHGNC:18290. CMAS.
HPAiHPA039905.
MIMi603316. gene.
neXtProtiNX_Q8NFW8.
PharmGKBiPA38519.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJVA. Eukaryota.
COG1083. LUCA.
COG1778. LUCA.
GeneTreeiENSGT00390000004237.
HOGENOMiHOG000284760.
HOVERGENiHBG052605.
InParanoidiQ8NFW8.
KOiK00983.
OMAiQVHRRSP.
OrthoDBiEOG091G0W03.
PhylomeDBiQ8NFW8.
TreeFamiTF324840.

Enzyme and pathway databases

UniPathwayiUPA00628.
ReactomeiR-HSA-4085001. Sialic acid metabolism.

Miscellaneous databases

ChiTaRSiCMAS. human.
GeneWikiiCMAS_(gene).
GenomeRNAii55907.
PROiQ8NFW8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111726.
CleanExiHS_CMAS.
ExpressionAtlasiQ8NFW8. baseline and differential.
GenevisibleiQ8NFW8. HS.

Family and domain databases

Gene3Di3.40.50.1000. 1 hit.
3.90.550.10. 1 hit.
InterProiIPR003329. Cytidylyl_trans.
IPR023214. HAD-like_dom.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF02348. CTP_transf_3. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.
SSF56784. SSF56784. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiNEUA_HUMAN
AccessioniPrimary (citable) accession number: Q8NFW8
Secondary accession number(s): Q96AX5, Q9NQZ0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: February 1, 2005
Last modified: September 7, 2016
This is version 121 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.