Gene Gene information from NCBI Gene database.
Entrez ID 55556
Gene name Enolase superfamily member 1
Gene symbol ENOSF1
Synonyms (NCBI Gene)
FUCDRTSTYMSAS
Chromosome 18
Chromosome location 18p11.32
Summary This gene can encode a mitochondrial enzyme that is thought to convert L-fuconate to 2-keto-3-deoxy-L-fuconate. This locus was originally identified as the source of antisense RNAs of the adjacent thymidylate synthase gene. Splice variants at this locus m
miRNA miRNA information provided by mirtarbase database.
263
miRTarBase ID miRNA Experiments Reference
MIRT004171 hsa-miR-192-5p Microarray 16822819
MIRT029471 hsa-miR-26b-5p Microarray 19088304
MIRT038536 hsa-miR-34b-3p CLASH 23622248
MIRT963731 hsa-miR-1245 CLIP-seq
MIRT963732 hsa-miR-1273f CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IBA
GO:0000287 Function Magnesium ion binding IDA 24697329
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0009063 Process Amino acid catabolic process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607427 30365 ENSG00000132199
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7L5Y1
Protein name Mitochondrial enolase superfamily member 1 (EC 4.2.1.68) (Antisense RNA to thymidylate synthase) (rTS) (L-fuconate dehydratase)
Protein function Plays a role in the catabolism of L-fucose, a sugar that is part of the carbohydrates that are attached to cellular glycoproteins. Catalyzes the dehydration of L-fuconate to 2-keto-3-deoxy-L-fuconate by the abstraction of the 2-proton to generat
PDB 4A35
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02746 MR_MLE_N 25 139 Mandelate racemase / muconate lactonizing enzyme, N-terminal domain Domain
PF13378 MR_MLE_C 203 423 Enolase C-terminal domain-like Domain
Sequence
Sequence length 443
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Fructose and mannose metabolism
Metabolic pathways
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DYSKERATOSIS CONGENITA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DYSKERATOSIS CONGENITA, DIGENIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
THYROID CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atherosclerosis Atherosclerosis Pubtator 36658621 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 35499292 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 30134598
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 24647007
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 24647007, 38203276 Associate
★☆☆☆☆
Found in Text Mining only
Congenital malformation syndrome Congenital Malformation Syndrome BEFREE 26956253
★☆☆☆☆
Found in Text Mining only
Conotruncal cardiac defects Conotruncal cardiac defect Pubtator 24535845 Associate
★☆☆☆☆
Found in Text Mining only
Cutaneous Mastocytosis Cutaneous mastocytosis BEFREE 31012786
★☆☆☆☆
Found in Text Mining only
Diabetes Gestational Gestational diabetes Pubtator 35631247 Associate
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down Syndrome BEFREE 31541420
★☆☆☆☆
Found in Text Mining only