MTHFD1 - methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 Gene

中文名称：亚甲基四氢叶酸脱氢酶、环化水解酶和甲酰四氢叶酸合成酶 1

种属: Homo sapiens

同用名: CIMAH; MTHFC; MTHFD

基因 ID: 4522 | 基因类型: protein coding

关于 MTHFD1

Cytogenetic location: 14q23.3 Genomic coordinates (GRCh38): 14:64,388,353-64,460,025 (from NCBI)

This gene has 34 transcripts (splice variants), 270 orthologues, 3 paralogues and is associated with 14 phenotypes. Broad expression in liver (RPKM 96.4), fat (RPKM 36.5) and 22 other tissues.

功能概要

该基因编码的蛋白质具有三种不同的酶活性，即 5,10-亚甲基四氢叶酸脱氢酶、5,10-亚甲基四氢叶酸环化水解酶和 10-甲酰四氢叶酸合成酶。这些活性中的每一种都催化四氢叶酸的 1-碳衍生物相互转化中的三个连续反应之一，这些反应是甲硫氨酸、胸苷酸和从头合成嘌呤的底物。三功能酶活性由两个主要结构域赋予，一个是含有脱氢酶和环化水解酶活性的氨基末端部分，另一个是更大的合成酶结构域。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]

MTHFD1 基因产物(2)

mRNA	Protein	Name
NM_001364837.1	NP_001351766.1	C-1-tetrahydrofolate synthase, cytoplasmic isoform 2
NM_005956.4	NP_005947.3	C-1-tetrahydrofolate synthase, cytoplasmic isoform 1

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 formate-tetrahydrofolate ligase activity	IDA IDA: 通过直接分析推断	1881876	GOA
enables methenyltetrahydrofolate cyclohydrolase activity	IDA IDA: 通过直接分析推断	1881876	GOA
enables methylenetetrahydrofolate dehydrogenase (NADP+) activity	IDA IDA: 通过直接分析推断	10828945	GOA
enables methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity	IDA IDA: 通过直接分析推断	1881876	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	24169621	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	1881876	GOA
involved in methionine biosynthetic process	IMP IMP: 通过突变表型推断	25633902	GOA
involved in one-carbon metabolic process	IMP IMP: 通过突变表型推断	25633902	GOA
acts upstream of purine nucleotide biosynthetic process	IMP IMP: 通过突变表型推断	18767138	GOA
involved in serine family amino acid biosynthetic process	IMP IMP: 通过突变表型推断	25633902	GOA
involved in tetrahydrofolate interconversion	IDA IDA: 通过直接分析推断	1881876	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

MTHFD1 蛋白结构

THF_DHG_CYH

THF_DHG_CYH_C

FTHFS

0
200
400
600
800
935 a.a.

蛋白主名

其他名称

C-1-tetrahydrofolate synthase, cytoplasmic

5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase

关联疾病

疾病名称

别名

Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia

CIMAH

Methylenetetrahydrofolate Dehydrogenase 1 Deficiency

Neural Tube Defects, Folate-Sensitive

Neural Tube Defects, Folate-Sensitive, Susceptibility To	Neural Tube Defect, Folate-Sensitive
NTDFS	Ntd, Folate-Sensitive
Neural Tube Defects, Susceptibility To	Neural Tube Defects

Severe Combined Immunodeficiency

Scid	Severe Combined Immunodeficiency Disease
Combined T And B Cell Inborn Immunodeficiency	Immunodeficiency, Severe Combined
Scid - [Severe Combined Immunodeficiencies]

Upper Thoracic Spina Bifida Cystica

Cervicothoracic Spina Bifida Cystica

Cervical Spina Bifida Cystica

Lumbosacral Spina Bifida Cystica

Thoracolumbosacral Spina Bifida Cystica

Total Spina Bifida Cystica

Upper Thoracic Spina Bifida Aperta

Thoracolumbosacral Spina Bifida Aperta

Lumbosacral Spina Bifida Aperta

Cervical Spina Bifida Aperta

Spina Bifida Aperta Of Cervical Spine

Cervicothoracic Spina Bifida Aperta

Total Spina Bifida Aperta

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

Megaloblastic Anemia

Imerslund-Grasbeck Syndrome	Igs
Defect Of Enterocyte Intrinsic Factor Receptor	Enterocyte Cobalamin Malabsorption
Familial Megaloblastic Anemia	Megaloblastic Anemia 1
Selective Cobalamin Malabsorption With Proteinuria	Imerslund-Gräsbeck Syndrome
Anemia, Megaloblastic	Grasbeck-Imerslund Syndrome
Megaloblastic Anaemia	Mga1 Norwegian Type
Recessive Hereditary Megaloblastic Anaemia 1	Recessive Hereditary Megaloblastic Anemia 1
Rh-Mga1	Gräsbeck-Imerslund Disease
Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria	Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12
Anemia Megaloblastic	Megaloblastic Anemia Due To Inborn Errors Of Metabolism
3-@Methylglutaconic Aciduria, Type I

Hyperhomocysteinemia

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency	Congenital Combined Immunodeficiency
Syndrome With Combined Immunodeficiency	Combined T And B Cell Immunodeficiency
Combined Immunity Deficiency	Combined Immunodeficiency Syndrome
Combined T-Cell And B-Cell Immunodeficiency	Lymphopenic Agammaglobulinaemia

Myelomeningocele

Meningomyelocele

Anencephaly

Aprosencephaly	Anencephalus
Congenital Absence Of Brain	Absence Of A Large Part Of The Brain And The Skull
Anencephalia	Anencephalic Monster
Brain Absence	Brain Agenesis
Brain Aplasia	Absent Brain
Anencephalic	Congenital Absence Of Cerebrum
Congenital Hemicrania	Incomplete Anencephaly

Choline Deficiency Disease

Choline Deficiency

Childhood Acute Lymphocytic Leukemia

Childhood Acute Lymphoblastic Leukemia	Childhood All
Pediatric Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia Acute Childhood

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

Spina Bifida Occulta

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

Tethered Spinal Cord Syndrome

Spinal Dysraphism	Tethered Cord Syndrome
Occult Spinal Dysraphism	Occult Spinal Dysraphism Sequence
Segmental Vertebral Anomalies	Tethered Spinal Cord Disease
Tethered Cord	Spina Bifida Occulta
Cryptomerorachischisis	Spina Bifida Occulta With Tethered Spinal Cord
Sbo - [Spina Bifida Occulta]

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Folate Malabsorption, Hereditary

Hereditary Folate Malabsorption	Congenital Defect Of Folate Absorption
Congenital Folate Malabsorption	Folic Acid Transport Defect
HFM

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Type 2 Diabetes Mellitus

Insulin Resistance	NIDDM
Type 2 Diabetes	Diabetes Mellitus, Non-Insulin-Dependent
T2D	Noninsulin-Dependent Diabetes Mellitus
Diabetes Mellitus, Type Ii	Maturity-Onset Diabetes
Insulin Resistance, Severe, Digenic	Diabetes Mellitus, Type 2
Diabetes Mellitus, Noninsulin-Dependent	Diabetes Mellitus, Noninsulin-Dependent, Association With
Diabetes Mellitus, Noninsulin-Dependent, Late Onset	Hypertension, Insulin Resistance-Related, Susceptibility To
Insulin Resistance, Susceptibility To	Non-Insulin-Dependent Diabetes Mellitus
Type Ii Diabetes Mellitus	Adult-Onset Diabetes Mellitus
Maturity-Onset Diabetes Mellitus	Diabetes Mellitus Type 2
Type Ii Diabetes	Type 2 Diabetes Mellitus, Susceptibility To
Diabetes, Type 2	Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To
Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To	Diabetes Mellitus, Type 2, Susceptibility To
Diabetes Mellitus, Noninsulin-Dependent, 2	Diabetes Mellitus, Type Ii, Susceptibility To
Hypertension, Insulin Resistance-Related	Adult-Onset Diabetes
Aodm	Diabetes Mellitus, Adult-Onset
Diabetes Mellitus Type Ii	Diabetes Mellitus Type 2, Susceptibility To
Diabetes, Type Ii, Susceptibility To	Diabetes Type 2
Diabetes Mellitus	Adult Onset Diabetes
Maturity Onset Diabetes	Nonketotic Diabetes
Non-Insulin Dependent Diabetes Mellitus	T2dm - [Type 2 Diabetes Mellitus]
Niddm - [Non Insulin Dependent Diabetes Mellitus]	Dm2
Dm Type Ii	Diabetic Type 2
Insulin Requiring Type 2 Diabetes	Noninsulin Dependent Diabetes
Non-Insulin-Dependent Diabetes Mellitus Without Complications	Diabetes Due To Insulin Secretory Defect
Diabetes Mellitus Due To Insulin Secretory Defect	Non-Insulin-Dependent Diabetes Of The Young
Senile Diabetes	Nonketotic Hyperglycaemia
Stable Diabetes

Orofacial Cleft

Cleft, Orofacial

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-130251	DS18561882		99.87%	否
HY-101943	LY 345899		98.0%	否
HY-155950	TH9619		99.33%	否
HY-131943	DS44960156		≥99.0%	否
HY-155219	TH9028	Inhibitor	/	否
HY-172910	MTHFD2-IN-6	Inhibitor	/	否
HY-RS08774	MTHFD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS08775	MTHFD1L Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS17098	Mthfd1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS20214	Mthfd1l Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS23542	Mthfd1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS26720	Mthfd1l Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	MTHFD1	MGD	MGI:1342005
Canis familiaris	MTHFD1	VGNC	VGNC:43472
Macaca mulatta	MTHFD1	VGNC	VGNC:84399
Rattus norvegicus	MTHFD1	RGD	RGD:708531
Bos taurus	MTHFD1	VGNC	VGNC:31730
Felis catus	MTHFD1	VGNC	VGNC:80909

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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）

MTHFD1 - methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 Gene

关于 MTHFD1

功能概要

MTHFD1 基因产物(2)

MTHFD1 蛋白结构

关联疾病

直系同源

热门区域

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MTHFD1 - methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 Gene

关于 MTHFD1

功能概要

MTHFD1 基因产物(2)

MTHFD1 蛋白结构

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