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

Also Known as FTHFSDC1; MTC1THFS; dJ292B18.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25902

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP binding	IDA IDA: Inferred from direct assay	16171773	GOA
enables formate-tetrahydrofolate ligase activity	IDA IDA: Inferred from direct assay	12937168	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	16171773	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in 10-formyltetrahydrofolate biosynthetic process	IDA IDA: Inferred from direct assay	12937168	GOA
involved in folic acid-containing compound metabolic process	IDA IDA: Inferred from direct assay	12937168	GOA
involved in formate metabolic process	IDA IDA: Inferred from direct assay	16171773	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	12937168	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MTHFD1L Protein Structure

THF_DHG_CYH

THF_DHG_CYH_C

FTHFS

0
200
400
600
800
978 a.a.

Protein Preferred Names	Protein Names
monofunctional C1-tetrahydrofolate synthase, mitochondrial	10-formyl-THF synthetase

MTHFD1L Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89603	MTHFD1L Antibody (YA8947)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

Related Diseases

Diseases	Alias
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

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08775	MTHFD1L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20214	Mthfd1l Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26720	Mthfd1l Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	MTHFD1L	NCBI