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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]
CMAS (Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase) is a Protein Coding gene. Diseases associated with CMAS include Coffin-Siris Syndrome 1 and Coffin-Siris Syndrome 4. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include N-acylneuraminate cytidylyltransferase activity.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH12J022045 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +1.4 | 1379 | 3.9 | PRDM10 ZNF629 SIX5 IKZF1 ZNF692 POLR2A JUND LARP7 ZNF143 ZIC2 | CMAS RECQL ST8SIA1 LDHB RF00017-1108 | |
GH12J022014 | Enhancer | 0.4 | Ensembl | 11.4 | -31.5 | -31473 | 0.6 | GABPA RXRA RARA GABPB1 | CMAS LDHB ENSG00000256615 THEM4P1 ABCC9 | |
GH12J022130 | Enhancer | 0.4 | ENCODE | 11.4 | +84.6 | 84625 | 1.1 | ATF3 FOS JUND JUN | CMAS piR-31534-125 SULT6B2P lnc-ABCC9-2 lnc-ST8SIA1-2 ST8SIA1 | |
GH12J022041 | Enhancer | 0.8 | FANTOM5 ENCODE | 0.7 | -3.1 | -3069 | 3.8 | JUND FOXA1 CEBPA SOX13 EGR1 CEBPB YBX1 FOS FOSL2 DPF2 | ST8SIA1 CMAS THEM4P1 ABCC9 | |
GH12J022034 | Enhancer | 0.6 | Ensembl ENCODE | 0.4 | -11.0 | -10974 | 2 | PRDM1 ESR1 CREB1 MYNN NFIC | CMAS THEM4P1 ABCC9 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008781 | N-acylneuraminate cytidylyltransferase activity | IBA | 21873635 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016779 | nucleotidyltransferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,HDA | 21630459 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0016020 | membrane | HDA | 19946888 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Synthesis of substrates in N-glycan biosythesis | ||
2 | Metabolism of proteins | ||
3 | Amino sugar and nucleotide sugar metabolism | ||
4 | Metabolism | ||
5 | Transport to the Golgi and subsequent modification |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006054 | N-acetylneuraminate metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Phosphoric acid | Approved | Pharma | 0 | |||
Cytidine-5'-Monophosphate-5-N-Acetylneuraminic Acid | Experimental | Pharma | Target | 0 | ||
Cytidine monophosphate | Experimental | Pharma | 0 | |||
Cytidine triphosphate | Experimental | Pharma | 0 | |||
Aceneuramic acid | Investigational | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
3-Deoxy-D-glycero-D-galacto-2-nonulosonic acid |
|
22594-61-2 |
|
|||
CMP-N-glycoloylneuraminate |
|
98300-80-2 |
|
|||
Cytidine monophosphate N-acetylneuraminic acid |
|
22-12-8 |
|
|||
N-glycolylneuraminic acid |
|
1113-83-3 |
|
|||
pyrophosphate |
|
14000-31-8 |
|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CMAS 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CMAS 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CMAS 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cmas 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cmas 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CMAS 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CMAS 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CMAS 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CMAS 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7491 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.20222 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | CMAS (3 of 3) 31 |
|
OneToMany | |
cmasa 30 31 |
|
OneToMany | |||
cmasb 31 |
|
OneToMany | |||
Dr.7145 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12074 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004527 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Csas 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
778585 | Benign: not provided | 22,046,381(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
779520 | Benign: not provided | 22,062,440(+) | T/TATC | INTRON_VARIANT | |
790461 | Benign: not provided | 22,065,215(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759883 | CNV | gain+loss | 17122850 |
nsv1134208 | CNV | deletion | 24896259 |
nsv438196 | CNV | loss | 16468122 |
Disorder | Aliases | PubMed IDs |
---|---|---|
coffin-siris syndrome 1 |
|
|
coffin-siris syndrome 4 |
|
|
coffin-siris syndrome 3 |
|
|
coffin-siris syndrome 2 |
|
|
rigid spine muscular dystrophy 1 |
|
|