Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	25902
Gene name Gene Name - the full gene name approved by the HGNC.	Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MTHFD1L
Synonyms (NCBI Gene) Gene synonyms aliases	FTHFSDC1, MTC1THFS, dJ292B18.2
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q25.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(106)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031875	hsa-miR-16-5p	Proteomics	18668040
MIRT041690	hsa-miR-484	CLASH	23622248
MIRT040048	hsa-miR-615-3p	CLASH	23622248
MIRT036804	hsa-miR-887-3p	CLASH	23622248
MIRT717592	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT717591	hsa-miR-3145-5p	HITS-CLIP	19536157
MIRT717590	hsa-miR-508-5p	HITS-CLIP	19536157
MIRT717589	hsa-miR-181a-2-3p	HITS-CLIP	19536157
MIRT717588	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT717587	hsa-miR-6509-3p	HITS-CLIP	19536157
MIRT717592	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT717591	hsa-miR-3145-5p	HITS-CLIP	19536157
MIRT717590	hsa-miR-508-5p	HITS-CLIP	19536157
MIRT717589	hsa-miR-181a-2-3p	HITS-CLIP	19536157
MIRT717588	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT717587	hsa-miR-6509-3p	HITS-CLIP	19536157
MIRT710150	hsa-miR-133a-5p	HITS-CLIP	19536157
MIRT710149	hsa-miR-6131	HITS-CLIP	19536157
MIRT710148	hsa-miR-138-5p	HITS-CLIP	19536157
MIRT710147	hsa-miR-92a-1-5p	HITS-CLIP	19536157
MIRT710146	hsa-miR-518d-5p	HITS-CLIP	19536157
MIRT710145	hsa-miR-518e-5p	HITS-CLIP	19536157
MIRT710144	hsa-miR-518f-5p	HITS-CLIP	19536157
MIRT710143	hsa-miR-519a-5p	HITS-CLIP	19536157
MIRT710142	hsa-miR-519b-5p	HITS-CLIP	19536157
MIRT710141	hsa-miR-519c-5p	HITS-CLIP	19536157
MIRT710140	hsa-miR-520c-5p	HITS-CLIP	19536157
MIRT710139	hsa-miR-522-5p	HITS-CLIP	19536157
MIRT710138	hsa-miR-523-5p	HITS-CLIP	19536157
MIRT710137	hsa-miR-526a	HITS-CLIP	19536157
MIRT710136	hsa-miR-4777-5p	HITS-CLIP	19536157
MIRT710135	hsa-miR-29b-2-5p	HITS-CLIP	19536157
MIRT667336	hsa-miR-3622a-5p	HITS-CLIP	23824327
MIRT667335	hsa-miR-564	HITS-CLIP	23824327
MIRT667334	hsa-miR-4284	HITS-CLIP	23824327
MIRT667333	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT440206	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440206	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT717592	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT717591	hsa-miR-3145-5p	HITS-CLIP	19536157
MIRT717590	hsa-miR-508-5p	HITS-CLIP	19536157
MIRT717589	hsa-miR-181a-2-3p	HITS-CLIP	19536157
MIRT717588	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT717587	hsa-miR-6509-3p	HITS-CLIP	19536157
MIRT717592	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT717591	hsa-miR-3145-5p	HITS-CLIP	19536157
MIRT717590	hsa-miR-508-5p	HITS-CLIP	19536157
MIRT717589	hsa-miR-181a-2-3p	HITS-CLIP	19536157
MIRT717588	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT717587	hsa-miR-6509-3p	HITS-CLIP	19536157
MIRT710150	hsa-miR-133a-5p	HITS-CLIP	19536157
MIRT710149	hsa-miR-6131	HITS-CLIP	19536157
MIRT710148	hsa-miR-138-5p	HITS-CLIP	19536157
MIRT710147	hsa-miR-92a-1-5p	HITS-CLIP	19536157
MIRT710146	hsa-miR-518d-5p	HITS-CLIP	19536157
MIRT710145	hsa-miR-518e-5p	HITS-CLIP	19536157
MIRT710144	hsa-miR-518f-5p	HITS-CLIP	19536157
MIRT710143	hsa-miR-519a-5p	HITS-CLIP	19536157
MIRT710142	hsa-miR-519b-5p	HITS-CLIP	19536157
MIRT710141	hsa-miR-519c-5p	HITS-CLIP	19536157
MIRT710140	hsa-miR-520c-5p	HITS-CLIP	19536157
MIRT710139	hsa-miR-522-5p	HITS-CLIP	19536157
MIRT710138	hsa-miR-523-5p	HITS-CLIP	19536157
MIRT710137	hsa-miR-526a	HITS-CLIP	19536157
MIRT710136	hsa-miR-4777-5p	HITS-CLIP	19536157
MIRT710135	hsa-miR-29b-2-5p	HITS-CLIP	19536157
MIRT667336	hsa-miR-3622a-5p	HITS-CLIP	23824327
MIRT667335	hsa-miR-564	HITS-CLIP	23824327
MIRT667334	hsa-miR-4284	HITS-CLIP	23824327
MIRT667333	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT755618	hsa-miR-9-5p	Luciferase reporter assay, Western blotting	37799388
MIRT1163165	hsa-miR-106a	CLIP-seq
MIRT1163166	hsa-miR-106b	CLIP-seq
MIRT1163167	hsa-miR-17	CLIP-seq
MIRT1163168	hsa-miR-188-5p	CLIP-seq
MIRT1163169	hsa-miR-20a	CLIP-seq
MIRT1163170	hsa-miR-20b	CLIP-seq
MIRT1163171	hsa-miR-2114	CLIP-seq
MIRT1163172	hsa-miR-3163	CLIP-seq
MIRT1163173	hsa-miR-3609	CLIP-seq
MIRT1163174	hsa-miR-377	CLIP-seq
MIRT1163175	hsa-miR-4509	CLIP-seq
MIRT1163176	hsa-miR-4540	CLIP-seq
MIRT1163177	hsa-miR-4744	CLIP-seq
MIRT1163178	hsa-miR-4796-3p	CLIP-seq
MIRT1163179	hsa-miR-4799-5p	CLIP-seq
MIRT1163180	hsa-miR-483-3p	CLIP-seq
MIRT1163181	hsa-miR-519d	CLIP-seq
MIRT1163182	hsa-miR-543	CLIP-seq
MIRT1163183	hsa-miR-548ah	CLIP-seq
MIRT1163184	hsa-miR-93	CLIP-seq
MIRT1163185	hsa-miR-936	CLIP-seq
MIRT2275943	hsa-miR-103a	CLIP-seq
MIRT2275944	hsa-miR-107	CLIP-seq
MIRT2275945	hsa-miR-1184	CLIP-seq
MIRT2275946	hsa-miR-153	CLIP-seq
MIRT2275947	hsa-miR-4418	CLIP-seq
MIRT2275948	hsa-miR-448	CLIP-seq
MIRT2275949	hsa-miR-4659a-3p	CLIP-seq
MIRT2275950	hsa-miR-4659b-3p	CLIP-seq
MIRT2275951	hsa-miR-509-3-5p	CLIP-seq
MIRT2275952	hsa-miR-509-5p	CLIP-seq
MIRT2275953	hsa-miR-515-5p	CLIP-seq
MIRT2275954	hsa-miR-545	CLIP-seq
MIRT2275955	hsa-miR-548p	CLIP-seq
MIRT2275956	hsa-miR-942	CLIP-seq

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001843	Process	Neural tube closure	ISS
GO:0004329	Function	Formate-tetrahydrofolate ligase activity	IDA	12937168
GO:0004488	Function	Methylenetetrahydrofolate dehydrogenase (NADP+) activity	IEA
GO:0005524	Function	ATP binding	IDA	16171773
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	12937168
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IBA	21873635
GO:0006760	Process	Folic acid-containing compound metabolic process	IDA	12937168
GO:0009257	Process	10-formyltetrahydrofolate biosynthetic process	IDA	12937168
GO:0015942	Process	Formate metabolic process	IDA	16171773
GO:0016020	Component	Membrane	HDA	19946888
GO:0035999	Process	Tetrahydrofolate interconversion	IBA	21873635
GO:0035999	Process	Tetrahydrofolate interconversion	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	16171773
GO:0046655	Process	Folic acid metabolic process	TAS
GO:0048702	Process	Embryonic neurocranium morphogenesis	ISS
GO:0048703	Process	Embryonic viscerocranium morphogenesis	ISS

MIM	HGNC	e!Ensembl
611427	21055	ENSG00000120254

Protein

UniProt ID

Q6UB35

Protein name

Monofunctional C1-tetrahydrofolate synthase, mitochondrial (EC 6.3.4.3) (Formyltetrahydrofolate synthetase)

Protein function

May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism complementing thus the enzymatic activities of MTHFD2. {ECO:0000250, ECO:0000269|PubMed:1617177

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00763	THF_DHG_CYH	70 → 180	Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain	Domain
PF02882	THF_DHG_CYH_C	183 → 309	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain	Domain
PF01268	FTHFS	360 → 978	Formate--tetrahydrofolate ligase	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in most tissues, highest expression found in placenta, thymus and brain. Low expression is found in liver and skeletal muscle. Up-regulated in colon adenocarcinoma. {ECO:0000269|PubMed:12937168, ECO:0000269|PubMed:15013446}.

Sequence

MGTRLPLVLRQLRRPPQPPGPPRRLRVPCRASSGGGGGGGGGREGLLGQRRPQDGQARSS
CSPGGRTPAARDSIVREVIQNSKEVLSLLQEKNPAFKPVLAIIQAGDDNLMQEINQNLAE
EAGLNITHICLPPDSSEAEIIDEILKINEDTRVHGLALQISENLFSNKVLNALKPEKDVD
GVTDINLGKLVRGDAHECFVSPVAKAVIELLEKSGVNLDGKKILVVGAHGSLEAALQCLF
QRKGSMTMSIQWKTRQLQSKLHEADIVVLGSPKPEEIPLTWIQPGTTVLNCSHDFLSGKV
GCGSPRIHFGGLIEEDDVILLAAALRIQNMVSSGRRWLREQQHRRWRLHCLKLQPLSPVP
SDIEISRGQTPKAVDVLAKEIGLLADEIEIYGKSKAKVRLSVLERLKDQADGKYVLVAGI
TPTPLGEGKSTVTIGLVQALTAHLNVNSFACLRQPSQGPTFGVKGGAAGGGYAQVIPMEE
FNLHLTGDIHAITAANNLLAAAIDTRILHENTQTDKALYNRLVPLVNGVREFSEIQLARL
KKLGINKTDPSTLTEEEVSKFARLDIDPSTITWQRVLDTNDRFLRKITIGQGNTEKGHYR
QAQFDIAVASEIMAVLALTDSLADMKARLGRMVVASDKSGQPVTADDLGVTGALTVLMKD
AIKPNLMQTLEGTPVFVHAGPFANIAHGNSSVLADKIALKLVGEEGFVVTEAGFGADIGM
EKFFNIKCRASGLVPNVVVLVATVRALKMHGGGPSVTAGVPLKKEYTEENIQLVADGCCN
LQKQIQITQLFGVPVVVALNVFKTDTRAEIDLVCELAKRAGAFDAVPCYHWSVGGKGSVD
LARAVREAASKRSRFQFLYDVQVPIVDKIRTIAQAVYGAKDIELSPEAQAKIDRYTQQGF
GNLPICMAKTHLSLSHQPDKKGVPRDFILPISDVRASIGAGFIYPLVGTMSTMPGLPTRP
CFYDIDLDTETEQVKGLF

Sequence length

978

Interactions

View interactions

	KEGG		Reactome
	One carbon pool by folate Metabolic pathways Biosynthesis of cofactors		Metabolism of folate and pterines

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039 View all (65 more)	20885792
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800 View all (467 more)
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	17634449
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	26198764

Show/Hide Unknown Diseases (4)

Disease term	Disease name	References	Source
Unknown
Coronary heart disease	Coronary heart disease	17634449, 21347282	ClinVar
Coronary Heart Disease	Coronary Heart Disease		GWAS
Diabetes	Diabetes		GWAS
Frontal Fibrosing Alopecia	Frontal Fibrosing Alopecia		GWAS

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text Mining
Acute Coronary Syndrome	Associate	24618918
Adenocarcinoma of Lung	Associate	34908119
Alzheimer Disease	Associate	20885792
Bipolar Disorder	Associate	29257106
Carcinoma Hepatocellular	Associate	30482855, 33605411
Carcinoma Pancreatic Ductal	Associate	35459186
Carcinoma Renal Cell	Associate	34908119
Colorectal Neoplasms	Associate	33605411
Coronary Artery Disease	Associate	17634449, 18675980, 19164808, 19777576, 24618918, 25528061, 40004565
Coronary Artery Disease Autosomal Dominant 1	Associate	22216278
Coronary Disease	Associate	21804106, 22042884, 24618918
Depressive Disorder	Associate	26926881
Endometrial Neoplasms	Associate	34908119
Glioblastoma	Associate	32897363
Head and Neck Neoplasms	Associate	34908119
Liver Neoplasms	Stimulate	33605411
Mental Disorders	Associate	26926881
Myocardial Infarction	Associate	24618918
Neoplasms	Associate	34908119
Neoplasms	Stimulate	37919060
Neural Tube Defects	Associate	19777576, 22520921
Osteosarcoma	Associate	33146000
Pancreatic Neoplasms	Associate	35459186
Rumination Syndrome	Associate	26926881
Urinary Bladder Neoplasms	Associate	34908119, 37919060
Vascular Calcification	Associate	40057183

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