2. Gene
  3. MTHFD1L - methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like Gene

MTHFD1L - methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like Gene

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

中文名称：亚甲基四氢叶酸脱氢酶 (依赖 NADP+) 1 样

种属: Homo sapiens

同用名: FTHFSDC1; MTC1THFS; dJ292B18.2

基因 ID: 25902 | 基因类型: protein coding

关于 MTHFD1L

Cytogenetic location: 6q25.1 Genomic coordinates (GRCh38): 6:150,865,702-151,101,887 (from NCBI)

This gene has 12 transcripts (splice variants), 203 orthologues and 3 paralogues. Ubiquitous expression in ovary (RPKM 2.3), thyroid (RPKM 2.0) and 25 other tissues.

功能概要

该基因编码的蛋白质参与线粒体中四氢叶酸 (THF) 的合成。 THF 在嘌呤和胸苷酸的从头合成以及从同型半胱氨酸再生甲硫氨酸方面很重要。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供，2011 年 6 月]

The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]

MTHFD1L 基因产物(12)

mRNA Protein Name
NM_001242767.2 NP_001229696.1 monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 1 precursor
NM_001242768.2 NP_001229697.1 monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 3
NM_001242769.3 NP_001229698.1 monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 4 precursor
NM_001350486.1 NP_001337415.1 monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 5
NM_001350487.2 NP_001337416.1 monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 6
NM_001350488.3 NP_001337417.1 monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 7 precursor
NM_001350489.3 NP_001337418.1 monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 8 precursor
NM_001350490.1 NP_001337419.1 monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 9
NM_001350491.3 NP_001337420.1 monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 10
NM_001350492.2 NP_001337421.1 monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 11
NM_001350493.1 NP_001337422.1 monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 11
NM_015440.5 NP_056255.2 monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 2 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ATP binding IDA
IDA: 通过直接分析推断
16171773 GOA
enables formate-tetrahydrofolate ligase activity IDA
IDA: 通过直接分析推断
12937168 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
16171773 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in 10-formyltetrahydrofolate biosynthetic process IDA
IDA: 通过直接分析推断
12937168 GOA
involved in folic acid-containing compound metabolic process IDA
IDA: 通过直接分析推断
12937168 GOA
involved in formate metabolic process IDA
IDA: 通过直接分析推断
16171773 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
12937168 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

MTHFD1L 蛋白结构

THF_DHG_CYH

THF_DHG_CYH: Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (74 - 180)

THF_DHG_CYH_C

THF_DHG_CYH_C: Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (184 - 297)

FTHFS

FTHFS: Formate--tetrahydrofolate ligase (359 - 978)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 978 a.a.
蛋白主名 其他名称

monofunctional C1-tetrahydrofolate synthase, mitochondrial

10-formyl-THF synthetase

关联疾病

疾病名称 别名
Colon Adenocarcinoma

Adenocarcinoma Of Colon

Adenocarcinoma Of The Colon

Colonic Adenocarcinoma
Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos
Alzheimer Disease 4

AD4

Alzheimer Disease-4

Alzheimer'S Disease 4

Alzheimer Disease, Familial, 4

Alzheimer Disease, Familial4

Alzheimer'S Disease 4, Early Onset

Alzheimer Disease, Type 4
Folate Malabsorption, Hereditary

Hereditary Folate Malabsorption

Congenital Defect Of Folate Absorption

Congenital Folate Malabsorption

Folic Acid Transport Defect

HFM
Glycine Encephalopathy

Non-Ketotic Hyperglycinemia

Nonketotic Hyperglycinemia

NKH

GCE

Hyperglycinemia, Nonketotic

Hyperglycinemia Nonketotic

Infantile Glycine Encephalopathy

Encephalopathy, Glycine

Glycine Synthase Deficiency

Nka

Neonatal Glycine Encephalopathy

Classic Glycine Encephalopathy

Neonatal Nkh

Neonatal Non-Ketotic Hyperglycinemia

Infantile Nkh

Infantile Non-Ketotic Hyperglycinemia

Non-Ketotic Hyperglycinaemia

Glycine Cleavage Deficiency

Nonketotic Hyperglycinaemia
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-RS08775 MTHFD1L Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus MTHFD1L VGNC VGNC:53798
Mus musculus MTHFD1L MGD MGI:1924836
Macaca mulatta MTHFD1L VGNC VGNC:83435
Rattus norvegicus MTHFD1L RGD RGD:1307311
Canis familiaris MTHFD1L VGNC VGNC:98515
Felis catus MTHFD1L VGNC VGNC:102468
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