CMAS
N-acylneuraminate cytidylyltransferase
Also known as: NEUA_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NFW8
- Gene
- CMAS
- Ensembl
- ENSG00000111726
- Chromosome
- 12
- Canonical length
- 434 aa
- Protein class
- Enzymes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoli,Cytosol
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
434 residues, UniProt reviewed canonical sequence.
>Q8NFW8|CMAS
1 MDSVEKGAAT SVSNPRGRPS RGRPPKLQRN SRGGQGRGVE KPPHLAALIL ARGGSKGIPL
61 KNIKHLAGVP LIGWVLRAAL DSGAFQSVWV STDHDEIENV AKQFGAQVHR RSSEVSKDSS
121 TSLDAIIEFL NYHNEVDIVG NIQATSPCLH PTDLQKVAEM IREEGYDSVF SVVRRHQFRW
181 SEIQKGVREV TEPLNLNPAK RPRRQDWDGE LYENGSFYFA KRHLIEMGYL QGGKMAYYEM
241 RAEHSVDIDV DIDWPIAEQR VLRYGYFGKE KLKEIKLLVC NIDGCLTNGH IYVSGDQKEI
301 ISYDVKDAIG ISLLKKSGIE VRLISERACS KQTLSSLKLD CKMEVSVSDK LAVVDEWRKE
361 MGLCWKEVAY LGNEVSDEEC LKRVGLSGAP ADACSTAQKA VGYICKCNGG RGAIREFAEH
421 ICLLMEKVNN SCQKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CMAS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 75 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 75 nTPM
- colon: 73 nTPM
- esophagus: 70 nTPM
- cerebral cortex: 69 nTPM
- rectum: 67 nTPM
- liver: 67 nTPM
Single-cell type
- esophageal apical cells: 887 nCPM
- syncytiotrophoblasts: 885 nCPM
- megakaryocytes: 525 nCPM
- esophageal suprabasal cells: 235 nCPM
- cytotrophoblasts: 205 nCPM
- migrating cytotrophoblasts: 187 nCPM
Immune cell
- NK-cell: 37 nTPM
- T-reg: 34 nTPM
- eosinophil: 32 nTPM
- myeloid DC: 32 nTPM
- intermediate monocyte: 30 nTPM
- non-classical monocyte: 28 nTPM
Brain region
- midbrain: 80 nTPM
- hypothalamus: 80 nTPM
- pons: 80 nTPM
- cerebral cortex: 65 nTPM
- basal ganglia: 64 nTPM
- hippocampal formation: 53 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.43
- gnomAD pLI
- 0.56
- gnomAD missense Z
- 2.45
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- N-acylneuraminate cytidylyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- HAD superfamily
- Nucleotide-diphospho-sugar transferases
- HAD-like superfamily
- Acylneuraminate cytidylyltransferase
- CMP-NeuNAc synthase
- Cytidylyltransferase
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CMAS as an antibody target. Whether an autoantibody or antibody against CMAS could matter depends on whether native CMAS is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CMAS is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CMAS as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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