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MTHFD1L

GENERAL INFORMATION

Gene name

 MTHFD1L

Gene description

 Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like

Protein class

 Enzymes
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

 Intracellular,Membrane

Number of transcripts

 9
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Mixed
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Caution, targets protein from more than one gene. Pending external verification.

Reliability score

 Approved based on 4 antibodies.
HPA015006 , HPA029040 , HPA029041 , HPA050052
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 MTHFD1L (HGNC Symbol)

Synonyms

 DKFZP586G1517, FLJ21145, FTHFSDC1

Description

 Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (HGNC Symbol)

Entrez gene 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]

Chromosome

 6

Cytoband

 q25.1

Chromosome location (bp)

 150865549 - 151101887

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000120254 (version 83.38)

Entrez gene

 25902

UniProt

 Q6UB35 (UniProt - Evidence at protein level)

neXtProt

 NX_Q6UB35

Antibodypedia

 MTHFD1L antibodies

PROTEIN BROWSER
MTHFD1L-001
MTHFD1L-002
MTHFD1L-003
MTHFD1L-007
MTHFD1L-008
MTHFD1L-009
MTHFD1L-012
MTHFD1L-201
MTHFD1L-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MTHFD1L-001
ENSP00000391022
ENST00000453602
Q4VXM0 [Direct mapping]
Monofunctional C1-tetrahydrofolate synthase, mitochondrial
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004329 [formate-tetrahydrofolate ligase activity]
GO:0005524 [ATP binding]
GO:0006730 [one-carbon metabolic process]
GO:0009396 [folic acid-containing compound biosynthetic process]
Show all
 92 aa
10 kDa 		No 0
MTHFD1L-002
ENSP00000399804
ENST00000450635
Q4VXM1 [Direct mapping]
Monofunctional C1-tetrahydrofolate synthase, mitochondrial
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004329 [formate-tetrahydrofolate ligase activity]
GO:0005524 [ATP binding]
GO:0006730 [one-carbon metabolic process]
GO:0009396 [folic acid-containing compound biosynthetic process]
Show all
 57 aa
6.2 kDa 		No 0
MTHFD1L-003
ENSP00000356290
ENST00000367321
Q6UB35 [Direct mapping]
Monofunctional C1-tetrahydrofolate synthase, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Ligase
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001843 [neural tube closure]
GO:0003824 [catalytic activity]
GO:0004329 [formate-tetrahydrofolate ligase activity]
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0005524 [ATP binding]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006730 [one-carbon metabolic process]
GO:0006760 [folic acid-containing compound metabolic process]
GO:0006766 [vitamin metabolic process]
GO:0006767 [water-soluble vitamin metabolic process]
GO:0009396 [folic acid-containing compound biosynthetic process]
GO:0015942 [formate metabolic process]
GO:0016020 [membrane]
GO:0035999 [tetrahydrofolate interconversion]
GO:0042803 [protein homodimerization activity]
GO:0044281 [small molecule metabolic process]
GO:0046653 [tetrahydrofolate metabolic process]
GO:0046655 [folic acid metabolic process]
GO:0048702 [embryonic neurocranium morphogenesis]
GO:0048703 [embryonic viscerocranium morphogenesis]
GO:0055114 [oxidation-reduction process]
Show all
 978 aa
105.8 kDa 		No 0
MTHFD1L-007
ENSP00000395158
ENST00000420192
Q4VXV2 [Direct mapping]
Monofunctional C1-tetrahydrofolate synthase, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004329 [formate-tetrahydrofolate ligase activity]
GO:0005524 [ATP binding]
GO:0006730 [one-carbon metabolic process]
GO:0009396 [folic acid-containing compound biosynthetic process]
Show all
 96 aa
10.6 kDa 		No 0
MTHFD1L-008
ENSP00000356277
ENST00000367308
H0Y327 [Direct mapping]
Monofunctional C1-tetrahydrofolate synthase, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0006730 [one-carbon metabolic process]
GO:0009396 [folic acid-containing compound biosynthetic process]
GO:0055114 [oxidation-reduction process]
Show all
 332 aa
36.3 kDa 		No 0
MTHFD1L-009
ENSP00000400776
ENST00000423867
Q5JYA3 [Direct mapping]
Monofunctional C1-tetrahydrofolate synthase, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0006730 [one-carbon metabolic process]
GO:0009396 [folic acid-containing compound biosynthetic process]
GO:0055114 [oxidation-reduction process]
Show all
 114 aa
12.4 kDa 		No 0
MTHFD1L-012
ENSP00000356276
ENST00000367307
Q6UB35 [Direct mapping]
Monofunctional C1-tetrahydrofolate synthase, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Ligase
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001843 [neural tube closure]
GO:0003824 [catalytic activity]
GO:0004329 [formate-tetrahydrofolate ligase activity]
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0005524 [ATP binding]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006730 [one-carbon metabolic process]
GO:0006760 [folic acid-containing compound metabolic process]
GO:0006766 [vitamin metabolic process]
GO:0006767 [water-soluble vitamin metabolic process]
GO:0009396 [folic acid-containing compound biosynthetic process]
GO:0015942 [formate metabolic process]
GO:0016020 [membrane]
GO:0035999 [tetrahydrofolate interconversion]
GO:0042803 [protein homodimerization activity]
GO:0044281 [small molecule metabolic process]
GO:0046653 [tetrahydrofolate metabolic process]
GO:0046655 [folic acid metabolic process]
GO:0048702 [embryonic neurocranium morphogenesis]
GO:0048703 [embryonic viscerocranium morphogenesis]
GO:0055114 [oxidation-reduction process]
Show all
 275 aa
29.8 kDa 		No 0
MTHFD1L-201
ENSP00000478253
ENST00000611279
B7ZM99 [Direct mapping]
MTHFD1L protein; Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like; Monofunctional C1-tetrahydrofolate synthase, mitochondrial
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001843 [neural tube closure]
GO:0003824 [catalytic activity]
GO:0004329 [formate-tetrahydrofolate ligase activity]
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0005524 [ATP binding]
GO:0006730 [one-carbon metabolic process]
GO:0009396 [folic acid-containing compound biosynthetic process]
GO:0048702 [embryonic neurocranium morphogenesis]
GO:0048703 [embryonic viscerocranium morphogenesis]
GO:0055114 [oxidation-reduction process]
Show all
 979 aa
105.9 kDa 		No 1
MTHFD1L-202
ENSP00000479539
ENST00000618312
A0A087WVM4 [Direct mapping]
Monofunctional C1-tetrahydrofolate synthase, mitochondrial
Show all
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004329 [formate-tetrahydrofolate ligase activity]
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0005524 [ATP binding]
GO:0006730 [one-carbon metabolic process]
GO:0009396 [folic acid-containing compound biosynthetic process]
GO:0055114 [oxidation-reduction process]
Show all
 913 aa
99.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.