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  3. ENOSF1 - enolase superfamily member 1 Gene

ENOSF1 - enolase superfamily member 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：烯醇化酶超家族成员 1

种属: Homo sapiens

同用名: RTS; FUCD; TYMSAS

基因 ID: 55556 | 基因类型: protein coding

关于 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.

功能概要

该基因可以编码一种线粒体酶，这种酶被认为可以将 L-岩藻酸转化为 2-keto-3-deoxy-L-岩藻酸。该基因座最初被确定为相邻胸苷酸合酶基因的反义 RNA 的来源。该位点的剪接变体可能包含一个备用 3' 外显子，该外显子与胸苷酸合酶 (TS) RNA 的 3'UTR 和末端内含子互补，并可能下调 TS 表达。[RefSeq 提供，2017 年 8 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables L-fuconate dehydratase activity IDA
IDA: 通过直接分析推断
24697329 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
24697329 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in carbohydrate catabolic process IDA
IDA: 通过直接分析推断
24697329 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ENOSF1 蛋白结构

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.
蛋白主名 其他名称

mitochondrial enolase superfamily member 1

L-fuconate dehydratase

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04383 ENOSF1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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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