ENOSF1 (enolase superfamily member 1)

2014-08-01  

Identity

HGNC
ENOSF1
LOCATION
18p11.32
LOCUSID
55556
ALIAS
FUCD,RTS,TYMSAS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55556
MIM: 607427
HGNC: 30365
Ensembl: ENSG00000132199

Variants:

dbSNP: 55556
ClinVar: 55556
TCGA: ENSG00000132199
COSMIC: ENOSF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132199ENST00000340116A0A3F2YNX7
ENSG00000132199ENST00000383578Q7L5Y1
ENSG00000132199ENST00000580982J3QL81
ENSG00000132199ENST00000581475J3QSB6
ENSG00000132199ENST00000583771R4GNF8
ENSG00000132199ENST00000584453J3QL99
ENSG00000132199ENST00000585128X6RM24
ENSG00000132199ENST00000647584Q7L5Y1

Expression (GTEx)

0
10
20
30
40
50
60
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
Fructose and mannose metabolismKEGGko00051
Fructose and mannose metabolismKEGGhsa00051

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA128406956fluorouracilChemicalClinicalAnnotationassociatedPD17549067, 20714149, 23263912, 27001118, 27995989
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD16130010, 18322994
PA445048NauseaDiseaseVariantAnnotationassociatedPD28347776
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPD17549067, 20714149, 23263912, 27001118, 27995989
PA446051VomitingDiseaseVariantAnnotationassociatedPD28347776
PA446108Colorectal NeoplasmsDiseaseClinicalAnnotationassociatedPD
PA446155Precursor Cell Lymphoblastic Leukemia-LymphomaDiseaseClinicalAnnotationassociatedPD16130010, 18322994
PA448771capecitabineChemicalClinicalAnnotation, VariantAnnotationassociatedPD17549067, 20714149, 23263912, 27001118, 27995989, 28347776
PA450428methotrexateChemicalClinicalAnnotationassociatedPD16130010, 18322994

References

Pubmed IDYearTitleCitations
361726602022Evaluation of TS and ENOSF1 Variants as a Biomarker in Response to Neoadjuvant Chemotherapy based on 5FU in Gastric Cancer Patients.3
361726602022Evaluation of TS and ENOSF1 Variants as a Biomarker in Response to Neoadjuvant Chemotherapy based on 5FU in Gastric Cancer Patients.3
318380772020Evaluating the role of ENOSF1 and TYMS variants as predictors in fluoropyrimidine-related toxicities: An IPD meta-analysis.14
318380772020Evaluating the role of ENOSF1 and TYMS variants as predictors in fluoropyrimidine-related toxicities: An IPD meta-analysis.14
301345982018rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology.2
301345982018rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology.2
246470072015A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS.41
256779012015Identification of peptide regions of SERPINA1 and ENOSF1 and their protein expression as potential serum biomarkers for gastric cancer.20
246470072015A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS.41
256779012015Identification of peptide regions of SERPINA1 and ENOSF1 and their protein expression as potential serum biomarkers for gastric cancer.20
246973292014Enzymatic and structural characterization of rTSγ provides insights into the function of rTSβ.11
246973292014Enzymatic and structural characterization of rTSγ provides insights into the function of rTSβ.11
204584362010Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism.18
204854442010Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population.13
205657742010Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.28

Citation

Dessen P

ENOSF1 (enolase superfamily member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54284/enosf1-(enolase-superfamily-member-1)