MTHFS - methenyltetrahydrofolate synthetase Gene

中文名称：亚甲基四氢叶酸合成酶

种属: Homo sapiens

同用名: NEDMEHM; HsT19268

基因 ID: 10588 | 基因类型: protein coding

关于 MTHFS

Cytogenetic location: 15q25.1 Genomic coordinates (GRCh38): 15:79,843,547-79,897,285 (from NCBI)

This gene has 4 transcripts (splice variants), 206 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in liver (RPKM 20.2), kidney (RPKM 14.0) and 23 other tissues.

功能概要

该基因编码的蛋白质是一种酶，可催化 5-甲酰四氢叶酸转化为 5,10-亚甲基四氢叶酸，后者是参与 1-碳代谢的还原叶酸的前体。编码蛋白的活性增加可导致叶酸周转率增加和叶酸耗竭。已发现该基因编码两种不同亚型的三种转录变体。[RefSeq 提供，2011 年 6 月]

The protein encoded by this gene is an Enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

MTHFS 基因产物(2)

mRNA	Protein	Name
NM_001199758.1	NP_001186687.1	5-formyltetrahydrofolate cyclo-ligase isoform b
NM_006441.4	NP_006432.1	5-formyltetrahydrofolate cyclo-ligase isoform a

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 5-formyltetrahydrofolate cyclo-ligase activity	IDA IDA: 通过直接分析推断	7766710	GOA
enables 5-formyltetrahydrofolate cyclo-ligase activity	IMP IMP: 通过突变表型推断	12764149	GOA
enables ATP binding	IDA IDA: 通过直接分析推断	19738041	GOA
enables folic acid binding	IDA IDA: 通过直接分析推断	7766710	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	28514442	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in folic acid catabolic process	IMP IMP: 通过突变表型推断	12764149	GOA
involved in glutamate metabolic process	IMP IMP: 通过突变表型推断	12764149	GOA
involved in tetrahydrofolate interconversion	IMP IMP: 通过突变表型推断	12764149	GOA
involved in tetrahydrofolate metabolic process	IDA IDA: 通过直接分析推断	7766710	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	7766710	GOA
located in mitochondrial matrix	IDA IDA: 通过直接分析推断	7766710	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

MTHFS 蛋白结构

5-FTHF_cyc-lig

0
100
203 a.a.

蛋白主名

其他名称

5-formyltetrahydrofolate cyclo-ligase

5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)

MTHFS 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	MTHFS	P49914	PLCL2	Homo sapiens	Q9UPR0	Anti Tag CoIP	33961781
种属内	MTHFS	P49914	PLCL2	Homo sapiens	Q9UPR0	Anti Tag CoIP	28514442

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 MTHFS 蛋白

目录号	产品名	蛋白编号	纯度
HY-P70362	MTHFS Protein, Human (His)	P49914-1 (M1-A203)	≥95%

关联疾病

疾病名称

别名

Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination

NEDMEHM

Mthfs-Related Developmental Delay-Microcephaly-Short Stature-Epilepsy Syndrome

Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant	Autosomal Dominant Cutis Laxa
ADCL1	Adcl
Autosomal Dominant Cutis Laxa 1	Cutis Laxa, Autosomal Dominant, 1
Cutis Laxa, Autosomal Dominant, Type 1

Cutis Laxa, Autosomal Dominant 3

ADCL3	Autosomal Dominant Cutis Laxa 3
Cutis Laxa, Autosomal Dominant, 3

Cutis Laxa, Autosomal Dominant 2

ADCL2	Autosomal Dominant Cutis Laxa 2
Cutis Laxa, Autosomal Dominant, 2	Cutis Laxa, Autosomal Dominant, Type 2

Frank-Ter Haar Syndrome

Ter Haar Syndrome	Borrone Dermatocardioskeletal Syndrome
FTHS	Autosomal Recessive Melnick-Needles Syndrome
Borrone Di Rocco Crovato Syndrome	Megalocornea, Multiple Skeletal Anomalies, And Developmental Delay
Melnick-Needles Syndrome, Autosomal Recessive, Formerly	Frank Ter Haar Syndrome

Focal Dermal Hypoplasia

Goltz Syndrome	Goltz-Gorlin Syndrome
FDH	FODH
Dhof	Goltz Gorlin Syndrome
Hypoplasia, Dermal, Focal

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Otopalatodigital Syndrome Spectrum Disorder

Opd Spectrum Disorder	Opsd
Fronto-Otopalatodigital Osteodysplasia

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

目录号	产品名	作用方式	纯度	是否罕见病
HY-14781	Levomefolic acid		98.55%	否

目录号	产品名	作用方式	纯度	Phase
HY-109051C	Arfolitixorin sulfate		/	Phase 3

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-14781S1	Levomefolic acid-13C,d3		≥95.0%	否
HY-14781S2	Levomefolic acid-13C5		/	否
HY-RS08779	MTHFS Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-109051	Arfolitixorin		/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	MTHFS	MGD	MGI:1340032
Macaca mulatta	MTHFS	VGNC	VGNC:84401
Rattus norvegicus	MTHFS	RGD	RGD:1306876
Others	MTHFS	NCBI

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

MTHFS - methenyltetrahydrofolate synthetase Gene

关于 MTHFS

功能概要

MTHFS 基因产物(2)

MTHFS 蛋白结构

MTHFS 蛋白互作信息

重组 MTHFS 蛋白

关联疾病

直系同源

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MTHFS - methenyltetrahydrofolate synthetase Gene

关于 MTHFS

功能概要

MTHFS 基因产物(2)

MTHFS 蛋白结构

MTHFS 蛋白互作信息

重组 MTHFS 蛋白

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z