ENOSF1 - enolase superfamily member 1 Gene

Also Known as RTS; FUCD; TYMSAS

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55556

About ENOSF1

Cytogenetic location: 18p11.32 Genomic coordinates (GRCh38): 18:662,986-712,630 (from NCBI)

This gene has 22 transcripts (splice variants) and 170 orthologues. Ubiquitous expression in bone marrow (RPKM 9.5), kidney (RPKM 9.5) and 25 other tissues.

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 may contain an alternate 3' exon that is complementary to the 3'UTR and terminal intron of the Thymidylate Synthase (TS) RNA and may downregulate TS expression. [provided by RefSeq, Aug 2017]

ENOSF1 Products (7)

mRNA Protein Name
NM_001318760.2 NP_001305689.1 mitochondrial enolase superfamily member 1 isoform 4
NM_001354065.2 NP_001340994.1 mitochondrial enolase superfamily member 1 isoform rTSalpha
NM_001354066.2 NP_001340995.1 mitochondrial enolase superfamily member 1 isoform 5
NM_001354067.2 NP_001340996.1 mitochondrial enolase superfamily member 1 isoform 6
NM_001354068.2 NP_001340997.1 mitochondrial enolase superfamily member 1 isoform 7
NM_017512.7 NP_059982.2 mitochondrial enolase superfamily member 1 isoform rTSbeta
NM_202758.5 NP_974487.2 mitochondrial enolase superfamily member 1 isoform 3

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables L-fuconate dehydratase activity IDA
IDA: Inferred from direct assay
24697329 GOA
enables magnesium ion binding IDA
IDA: Inferred from direct assay
24697329 GOA
Biological Process GO Annotation Evidence References Source
involved in carbohydrate catabolic process IDA
IDA: Inferred from direct assay
24697329 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ENOSF1 Protein Structure

MR_MLE_N

MR_MLE_N: Mandelate racemase / muconate lactonizing enzyme, N-terminal domain (35 - 138)

(234 - 303)

MR_MLE_C

MR_MLE_C: Enolase C-terminal domain-like (304 - 416)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 443 a.a.
Protein Preferred Names Protein Names

mitochondrial enolase superfamily member 1

  • L-fuconate dehydratase

Related Diseases

Diseases Alias
Dyskeratosis Congenita, Digenic

  • DKCD
Dyskeratosis Congenita

  • Dyskeratosis Congenita Autosomal Dominant

  • Dc

  • Dkc

  • Zinsser-Engman-Cole Syndrome

  • Dyskeratosis Congenita, Autosomal Dominant

  • Autosomal Dominant Dyskeratosis Congenita

  • Dkca

  • Dyskeratosis Congenita Scoggins Type

  • Zinsser-Cole-Engman Syndrome

  • X-Linked Dyskeratosis Congenita

  • Hoyeraal-Hreidarsson Syndrome
Chromosome 18p Deletion Syndrome

  • 18p- Syndrome

  • De Grouchy Syndrome

  • Monosomy 18p

  • 18p-

  • Chromosome 18p Deletion
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-153995B D-Ribonic acid ammonium / Unkown
HY-153995A D-Ribonic acid / Unkown
HY-RS04383 ENOSF1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus ENOSF1 VGNC VGNC:61868
Canis familiaris ENOSF1 VGNC VGNC:40370
Rattus norvegicus ENOSF1 RGD RGD:40958853
Bos taurus ENOSF1 VGNC VGNC:28501
Macaca mulatta ENOSF1 VGNC VGNC:72143
Others ENOSF1 NCBI