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

Homo sapiens

Also known as FTHFSDC1; MTC1THFS; dJ292B18.2

Gene ID: 25902 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08775	MTHFD1L Human Pre-designed siRNA Set A		/	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

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