ENOSF1 - enolase superfamily member 1 Gene

Homo sapiens

Also known as RTS; FUCD; TYMSAS

Gene ID: 55556 | Gene type: protein coding

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

ENOSF1 Protein Structure

MR_MLE_N

MR_MLE_C

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04383	ENOSF1 Human Pre-designed siRNA Set A		/	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

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