• Gene id: 55556

Gene Summary

• Gene Symbol: ENOSF1   Gene   UCSC   Ensembl
• Aliases: FUCD, RTS, TYMSAS
• Gene name: enolase superfamily member 1
• Alternate names: mitochondrial enolase superfamily member 1, L-fuconate dehydratase, antisense RNA to thymidylate synthase,
• Gene location: 18p11.32 (712663: 670317)     Exons: 19     NC_000018.10
• Gene summary(Entrez): 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
• OMIM: 607427

Protein Summary

• Protein general information: Q7L5Y1  
  • Name: Mitochondrial enolase superfamily member 1 (EC 4.2.1.68) (Antisense RNA to thymidylate synthase) (rTS) (L fuconate dehydratase)
  • Length: 443  
  • Mass: 49786
• Sequence:

  MVRGRISRLSVRDVRFPTSLGGHGADAMHTDPDYSAAYVVIETDAEDGIKGCGITFTLGKGTEVVVCAVNALAHH
  VLNKDLKDIVGDFRGFYRQLTSDGQLRWIGPEKGVVHLATAAVLNAVWDLWAKQEGKPVWKLLVDMDPRMLVSCI
  DFRYITDVLTEEDALEILQKGQIGKKEREKQMLAQGYPAYTTSCAWLGYSDDTLKQLCAQALKDGWTRFKVKVGA
  DLQDDMRRCQIIRDMIGPEKTLMMDANQRWDVPEAVEWMSKLAKFKPLWIEEPTSPDDILGHATISKALVPLGIG
  IATGEQCHNRVIFKQLLQAKALQFLQIDSCRLGSVNENLSVLLMAKKFEIPVCPHAGGVGLCELVQHLIIFDYIS
  VSASLENRVCEYVDHLHEHFKYPVMIQRASYMPPKDPGYSTEMKEESVKKHQYPDGEVWKKLLPAQEN

• Structural information:
  • Interpro: IPR036849  IPR029017  IPR029065  IPR034610  IPR018110   IPR013342  IPR013341  
  • Prosite: PS00909
  • CDD: cd03324
  • PDB: 4A35
  • PDBsum: 4A35
  • STRING: ENSP00000345974
• Other Databases: GeneCards:  ENOSF1  Malacards:  ENOSF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050023	L-fuconate dehydratase activity	IDA	molecular function
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0044275	cellular carbohydrate catabolic process	IDA	biological process
GO:0016052	carbohydrate catabolic process	IEA	biological process
GO:0050023	L-fuconate dehydratase activity	IEA	molecular function
GO:0009063	cellular amino acid catabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0050023	L-fuconate dehydratase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005575	cellular_component	ND	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00051	Fructose and mannose metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq