CMAS (cytidine monophosphate N-acetylneuraminic acid synthetase)

2014-11-01  

Identity

HGNC
CMAS
LOCATION
12p12.1
LOCUSID
55907
ALIAS
CSS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55907
MIM: 603316
HGNC: 18290
Ensembl: ENSG00000111726

Variants:

dbSNP: 55907
ClinVar: 55907
TCGA: ENSG00000111726
COSMIC: CMAS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111726ENST00000229329Q8NFW8
ENSG00000111726ENST00000534981Q8NFW8
ENSG00000111726ENST00000535610F5H296
ENSG00000111726ENST00000538498F5GYM0

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Amino sugar and nucleotide sugar metabolismKEGGko00520
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Sialic acid metabolismREACTOMER-HSA-4085001

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
314959222020A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family.2
314959222020A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family.2
273570832016CMP‑N‑acetylneuraminic acid synthetase interacts with fragile X related protein 1.3
273570832016CMP‑N‑acetylneuraminic acid synthetase interacts with fragile X related protein 1.3

Citation

Dessen P

CMAS (cytidine monophosphate N-acetylneuraminic acid synthetase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61920