MTHFD1L (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like) - Rat Genome Database
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Gene: MTHFD1L (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like) Homo sapiens
Analyze
Symbol: MTHFD1L
Name: methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like
RGD ID: 1342984
HGNC Page HGNC
Description: Exhibits ATP binding activity; formate-tetrahydrofolate ligase activity; and protein homodimerization activity. Involved in 10-formyltetrahydrofolate biosynthetic process and formate metabolic process. Localizes to mitochondrion. Implicated in neural tube defect.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 10-formyl-THF synthetase; dJ292B18.2; DKFZp586G1517; FLJ21145; formyltetrahydrofolate synthetase domain containing 1; FTHFSDC1; methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like; mitochondrial C1-tetrahydrofolate synthase; mitochondrial C1-tetrahydrofolate synthetase; monofunctional C1-tetrahydrofolate synthase, mitochondrial; MTC1THFS; RP1-292B18.2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC023078.2   AL845331.2   FP325317.2   LOC100996643   LOC101928195   LOC101929583   LOC102724580   LOC105379443   LOC286297  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6150,865,549 - 151,101,887 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl6150,865,679 - 151,101,887 (+)EnsemblGRCh38hg38GRCh38
GRCh386150,865,684 - 151,101,887 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376151,186,815 - 151,423,023 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366151,228,384 - 151,464,716 (+)NCBINCBI36hg18NCBI36
Build 346151,278,804 - 151,515,135NCBI
Celera6151,920,551 - 152,156,863 (+)NCBI
Cytogenetic Map6q25.1NCBI
HuRef6148,750,394 - 148,986,848 (+)NCBIHuRef
CHM1_16151,450,554 - 151,687,113 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
1-nitropyrene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
butan-1-ol  (EXP)
butanal  (EXP)
captan  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cefaloridine  (ISO)
chloroprene  (ISO)
choline  (ISO)
chrysene  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
folpet  (ISO)
formaldehyde  (EXP)
glycine betaine  (ISO)
hydroquinone O-beta-D-glucopyranoside  (EXP)
indometacin  (EXP)
irinotecan  (EXP)
L-methionine  (ISO)
mercury dichloride  (ISO)
methapyrilene  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nickel atom  (EXP)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP,ISO)
phenylephrine  (ISO)
phenytoin  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
resveratrol  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
tamoxifen  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:12477932   PMID:12937168   PMID:15013446   PMID:15068241   PMID:15611115   PMID:16171773   PMID:16344560   PMID:17353931   PMID:17634449   PMID:18029348   PMID:18804703   PMID:18978678  
PMID:19019082   PMID:19336575   PMID:19373437   PMID:19615732   PMID:19913121   PMID:19946888   PMID:19955471   PMID:20628086   PMID:20694560   PMID:20738937   PMID:20877624   PMID:20885792  
PMID:21145461   PMID:21383495   PMID:21540461   PMID:21741665   PMID:21873635   PMID:22277967   PMID:22330827   PMID:22520921   PMID:22586326   PMID:23798571   PMID:24123340   PMID:24163370  
PMID:24337577   PMID:24613305   PMID:24618918   PMID:25437307   PMID:25809277   PMID:25921289   PMID:26209609   PMID:26344197   PMID:26496610   PMID:26845356   PMID:26926881   PMID:26949251  
PMID:26972000   PMID:27375898   PMID:27432908   PMID:27591049   PMID:27637333   PMID:28394261   PMID:28443643   PMID:28515276   PMID:28675297   PMID:28718761   PMID:28846114   PMID:29171320  
PMID:29229926   PMID:29331416   PMID:29378950   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29564676   PMID:29568061   PMID:29955894   PMID:30463901   PMID:30619736   PMID:30833792  
PMID:30948266   PMID:31048545   PMID:31056398   PMID:31059266   PMID:31091453   PMID:31363079   PMID:31527615   PMID:31586073   PMID:31617661   PMID:31620119   PMID:32877691   PMID:33144569  


Genomics

Comparative Map Data
MTHFD1L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6150,865,549 - 151,101,887 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl6150,865,679 - 151,101,887 (+)EnsemblGRCh38hg38GRCh38
GRCh386150,865,684 - 151,101,887 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376151,186,815 - 151,423,023 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366151,228,384 - 151,464,716 (+)NCBINCBI36hg18NCBI36
Build 346151,278,804 - 151,515,135NCBI
Celera6151,920,551 - 152,156,863 (+)NCBI
Cytogenetic Map6q25.1NCBI
HuRef6148,750,394 - 148,986,848 (+)NCBIHuRef
CHM1_16151,450,554 - 151,687,113 (+)NCBICHM1_1
Mthfd1l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39103,918,282 - 4,117,081 (+)NCBIGRCm39mm39
GRCm38103,972,892 - 4,167,081 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl103,973,118 - 4,167,081 (+)EnsemblGRCm38mm10GRCm38
MGSCv37106,179,460 - 6,373,466 (-)NCBIGRCm37mm9NCBIm37
MGSCv36106,190,430 - 6,373,423 (-)NCBImm8
Celera103,900,899 - 4,096,959 (+)NCBICelera
Cytogenetic Map10A1NCBI
Mthfd1l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0140,529,092 - 40,719,232 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl140,529,045 - 40,719,391 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0141,876,363 - 42,065,394 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4134,759,445 - 34,800,865 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1134,690,706 - 34,876,868 (+)NCBI
Celera136,135,294 - 36,323,637 (+)NCBICelera
Cytogenetic Map1p11-q11NCBI
Mthfd1l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543910,438,883 - 10,621,768 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543910,432,732 - 10,621,991 (-)NCBIChiLan1.0ChiLan1.0
MTHFD1L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16153,384,532 - 153,619,884 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6153,390,498 - 153,619,884 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v06148,679,587 - 148,919,002 (+)NCBIMhudiblu_PPA_v0panPan3
MTHFD1L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl141,309,419 - 41,495,216 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1141,316,247 - 41,495,226 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Mthfd1l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364893,877,423 - 4,060,129 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTHFD1L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl115,140,898 - 15,329,966 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1115,140,929 - 15,330,265 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2117,550,520 - 17,655,409 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MTHFD1L
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11378,306,770 - 78,539,884 (+)NCBI
ChlSab1.1 Ensembl1378,306,821 - 78,477,200 (+)Ensembl
Mthfd1l
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247857,129,969 - 7,328,331 (-)NCBI

Position Markers
D6S956  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,314,978 - 151,315,292UniSTSGRCh37
Build 366151,356,671 - 151,356,985RGDNCBI36
Celera6152,048,824 - 152,049,138RGD
Cytogenetic Map6q25.1UniSTS
HuRef6148,878,633 - 148,878,947UniSTS
Marshfield Genetic Map6153.04UniSTS
Marshfield Genetic Map6153.04RGD
D2S337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37261,669,931 - 61,670,171UniSTSGRCh37
GRCh376151,201,504 - 151,201,711UniSTSGRCh37
Build 36261,523,435 - 61,523,675RGDNCBI36
Celera261,514,371 - 61,514,609RGD
Celera6151,935,364 - 151,935,571UniSTS
HuRef261,410,355 - 61,410,595UniSTS
Marshfield Genetic Map280.69RGD
Genethon Genetic Map284.1UniSTS
TNG Radiation Hybrid Map239333.0UniSTS
deCODE Assembly Map283.98UniSTS
Stanford-G3 RH Map22484.0UniSTS
GeneMap99-GB4 RH Map2189.82UniSTS
Whitehead-RH Map2259.8UniSTS
GeneMap99-G3 RH Map22441.0UniSTS
RH93531  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,420,888 - 151,421,125UniSTSGRCh37
Build 366151,462,581 - 151,462,818RGDNCBI36
Celera6152,154,727 - 152,154,964RGD
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map6q25.1UniSTS
HuRef6148,984,713 - 148,984,950UniSTS
GeneMap99-GB4 RH Map6600.46UniSTS
RH123123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,346,747 - 151,347,057UniSTSGRCh37
Build 366151,388,440 - 151,388,750RGDNCBI36
Celera6152,080,592 - 152,080,902RGD
Cytogenetic Map6q25.1UniSTS
HuRef6148,910,399 - 148,910,709UniSTS
TNG Radiation Hybrid Map673462.0UniSTS
RH48516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,403,668 - 151,403,867UniSTSGRCh37
Build 366151,445,361 - 151,445,560RGDNCBI36
Celera6152,137,515 - 152,137,714RGD
Cytogenetic Map6q25.1UniSTS
HuRef6148,967,375 - 148,967,574UniSTS
GeneMap99-GB4 RH Map6600.46UniSTS
NCBI RH Map61613.0UniSTS
RH15823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,227,895 - 151,228,018UniSTSGRCh37
Build 366151,269,588 - 151,269,711RGDNCBI36
Celera6151,961,757 - 151,961,880RGD
Cytogenetic Map6q25.1UniSTS
HuRef6148,791,485 - 148,791,608UniSTS
GeneMap99-GB4 RH Map6598.74UniSTS
STS-N30148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,422,872 - 151,423,012UniSTSGRCh37
Build 366151,464,565 - 151,464,705RGDNCBI36
Celera6152,156,712 - 152,156,852RGD
Cytogenetic Map6q25.1UniSTS
HuRef6148,986,697 - 148,986,837UniSTS
GeneMap99-GB4 RH Map6600.46UniSTS
NCBI RH Map61611.9UniSTS
WI-13575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376151,423,209 - 151,423,335UniSTSGRCh37
Build 366151,464,902 - 151,465,028RGDNCBI36
Celera6152,157,049 - 152,157,175RGD
Cytogenetic Map6q25.1UniSTS
HuRef6148,987,034 - 148,987,160UniSTS
GeneMap99-GB4 RH Map6600.46UniSTS
Whitehead-RH Map6813.3UniSTS
NCBI RH Map61613.0UniSTS
RH102196  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q25.1UniSTS
GeneMap99-GB4 RH Map6602.38UniSTS
D2S337  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2p15UniSTS
Marshfield Genetic Map280.69UniSTS
Genethon Genetic Map284.1UniSTS
deCODE Assembly Map283.98UniSTS
Whitehead-RH Map2259.8UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR887hsa-miR-887-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:2027
Count of miRNA genes:865
Interacting mature miRNAs:1029
Transcripts:ENST00000367307, ENST00000367308, ENST00000367321, ENST00000420192, ENST00000421497, ENST00000423867, ENST00000425276, ENST00000441122, ENST00000443074, ENST00000450635, ENST00000453602, ENST00000478643
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 345 1348 345 75 742 77 1591 121 1205 173 693 846 11 336 1140 3
Low 2085 1399 1349 514 1058 358 2243 1457 2496 243 753 762 156 868 1127 1
Below cutoff 2 238 29 33 148 29 521 613 10 3 3 1 4 521

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA478842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB127387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV704883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW593866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY374130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY374131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE735249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ062382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS482713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS482716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA195967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB727926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB883499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB895224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC940908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC952633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000367307   ⟹   ENSP00000356276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6150,865,716 - 150,899,021 (+)Ensembl
RefSeq Acc Id: ENST00000367308   ⟹   ENSP00000356277
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6150,865,944 - 150,926,153 (+)Ensembl
RefSeq Acc Id: ENST00000367321   ⟹   ENSP00000356290
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6150,865,549 - 151,101,887 (+)Ensembl
RefSeq Acc Id: ENST00000420192   ⟹   ENSP00000395158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6151,014,880 - 151,022,355 (+)Ensembl
RefSeq Acc Id: ENST00000421497
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6150,905,670 - 150,912,948 (+)Ensembl
RefSeq Acc Id: ENST00000423867   ⟹   ENSP00000400776
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6150,866,557 - 150,887,873 (+)Ensembl
RefSeq Acc Id: ENST00000441122   ⟹   ENSP00000407070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6150,866,506 - 150,936,915 (+)Ensembl
RefSeq Acc Id: ENST00000450635   ⟹   ENSP00000399804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6151,036,974 - 151,042,058 (+)Ensembl
RefSeq Acc Id: ENST00000453602   ⟹   ENSP00000391022
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6151,034,532 - 151,042,064 (+)Ensembl
RefSeq Acc Id: ENST00000478643
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6150,971,948 - 151,009,958 (+)Ensembl
RefSeq Acc Id: ENST00000611279   ⟹   ENSP00000478253
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6150,865,679 - 151,101,885 (+)Ensembl
RefSeq Acc Id: ENST00000618312   ⟹   ENSP00000479539
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6150,866,333 - 151,101,885 (+)Ensembl
RefSeq Acc Id: NM_001242767   ⟹   NP_001229696
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,865,702 - 151,101,887 (+)NCBI
GRCh376151,186,815 - 151,423,023 (+)ENTREZGENE
HuRef6148,750,394 - 148,986,848 (+)ENTREZGENE
CHM1_16151,450,554 - 151,687,113 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242768   ⟹   NP_001229697
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,866,333 - 151,101,887 (+)NCBI
GRCh376151,186,815 - 151,423,023 (+)ENTREZGENE
HuRef6148,750,394 - 148,986,848 (+)ENTREZGENE
CHM1_16151,451,208 - 151,687,113 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242769   ⟹   NP_001229698
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,865,702 - 150,899,000 (+)NCBI
GRCh376151,186,815 - 151,423,023 (+)ENTREZGENE
HuRef6148,750,394 - 148,986,848 (+)ENTREZGENE
CHM1_16151,450,554 - 151,483,896 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350486   ⟹   NP_001337415
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,866,333 - 151,101,887 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350487   ⟹   NP_001337416
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,866,486 - 151,101,887 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350488   ⟹   NP_001337417
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,865,702 - 150,899,000 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350489   ⟹   NP_001337418
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,865,702 - 150,899,000 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350490   ⟹   NP_001337419
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,007,008 - 151,101,887 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350491   ⟹   NP_001337420
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,866,486 - 150,899,000 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350492   ⟹   NP_001337421
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,866,486 - 151,101,887 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350493   ⟹   NP_001337422
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,866,447 - 151,101,887 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015440   ⟹   NP_056255
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,865,702 - 151,101,887 (+)NCBI
GRCh376151,186,815 - 151,423,023 (+)ENTREZGENE
Build 366151,228,384 - 151,464,716 (+)NCBI Archive
HuRef6148,750,394 - 148,986,848 (+)ENTREZGENE
CHM1_16151,450,554 - 151,687,113 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146719
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,865,702 - 151,101,887 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146720
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,866,486 - 151,101,887 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266907   ⟹   XP_005266964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,865,684 - 151,057,364 (+)NCBI
GRCh376151,186,815 - 151,423,023 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266911   ⟹   XP_005266968
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,865,684 - 150,960,192 (+)NCBI
GRCh376151,186,815 - 151,423,023 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535729   ⟹   XP_011534031
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,865,684 - 151,071,817 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535730   ⟹   XP_011534032
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,866,333 - 151,057,364 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535731   ⟹   XP_011534033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,866,358 - 151,057,364 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535732   ⟹   XP_011534034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,866,527 - 151,057,364 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535733   ⟹   XP_011534035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,867,028 - 151,057,364 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535734   ⟹   XP_011534036
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,866,485 - 151,057,364 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535737   ⟹   XP_011534039
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,865,684 - 150,985,064 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535738   ⟹   XP_011534040
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,865,684 - 150,984,590 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010702   ⟹   XP_016866191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,865,684 - 151,099,604 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010703   ⟹   XP_016866192
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,865,684 - 151,097,890 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010705   ⟹   XP_016866194
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,867,028 - 151,057,364 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446395   ⟹   XP_024302163
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,866,644 - 151,101,887 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446396   ⟹   XP_024302164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,865,684 - 150,935,700 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001743322
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,865,684 - 151,037,117 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002956274
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,865,684 - 151,101,887 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001229696 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229697 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229698 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337415 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337416 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337417 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337418 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337419 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337420 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337421 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337422 (Get FASTA)   NCBI Sequence Viewer  
  NP_056255 (Get FASTA)   NCBI Sequence Viewer  
  XP_005266964 (Get FASTA)   NCBI Sequence Viewer  
  XP_005266968 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534031 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534032 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534033 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534034 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534035 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534036 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534039 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534040 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866191 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866192 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866194 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302163 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302164 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH08629 (Get FASTA)   NCBI Sequence Viewer  
  AAH17477 (Get FASTA)   NCBI Sequence Viewer  
  AAI10320 (Get FASTA)   NCBI Sequence Viewer  
  AAI36686 (Get FASTA)   NCBI Sequence Viewer  
  AAI44369 (Get FASTA)   NCBI Sequence Viewer  
  AAQ82696 (Get FASTA)   NCBI Sequence Viewer  
  AAQ82697 (Get FASTA)   NCBI Sequence Viewer  
  BAB15009 (Get FASTA)   NCBI Sequence Viewer  
  BAD93193 (Get FASTA)   NCBI Sequence Viewer  
  BAG37771 (Get FASTA)   NCBI Sequence Viewer  
  CAB55934 (Get FASTA)   NCBI Sequence Viewer  
  CAM36319 (Get FASTA)   NCBI Sequence Viewer  
  CAM36320 (Get FASTA)   NCBI Sequence Viewer  
  CBF65969 (Get FASTA)   NCBI Sequence Viewer  
  CBF74049 (Get FASTA)   NCBI Sequence Viewer  
  CBU90841 (Get FASTA)   NCBI Sequence Viewer  
  CBU96477 (Get FASTA)   NCBI Sequence Viewer  
  EAW47760 (Get FASTA)   NCBI Sequence Viewer  
  EAW47761 (Get FASTA)   NCBI Sequence Viewer  
  EAW47762 (Get FASTA)   NCBI Sequence Viewer  
  EAW47763 (Get FASTA)   NCBI Sequence Viewer  
  Q6UB35 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001229696   ⟸   NM_001242767
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6UB35 (UniProtKB/Swiss-Prot),   B7ZM99 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_056255   ⟸   NM_015440
- Peptide Label: isoform 2 precursor
- UniProtKB: Q6UB35 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229698   ⟸   NM_001242769
- Peptide Label: isoform 4 precursor
- UniProtKB: Q6UB35 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229697   ⟸   NM_001242768
- Peptide Label: isoform 3
- UniProtKB: Q6UB35 (UniProtKB/Swiss-Prot),   A0A087WVM4 (UniProtKB/TrEMBL),   B2RD24 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005266964   ⟸   XM_005266907
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005266968   ⟸   XM_005266911
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011534039   ⟸   XM_011535737
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011534040   ⟸   XM_011535738
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011534031   ⟸   XM_011535729
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011534032   ⟸   XM_011535730
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011534033   ⟸   XM_011535731
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011534036   ⟸   XM_011535734
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011534034   ⟸   XM_011535732
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011534035   ⟸   XM_011535733
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016866191   ⟸   XM_017010702
- Peptide Label: isoform X2
- UniProtKB: B7ZM99 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016866192   ⟸   XM_017010703
- Peptide Label: isoform X2
- UniProtKB: B7ZM99 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016866194   ⟸   XM_017010705
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: NP_001337417   ⟸   NM_001350488
- Peptide Label: isoform 7 precursor
- Sequence:
RefSeq Acc Id: NP_001337418   ⟸   NM_001350489
- Peptide Label: isoform 8 precursor
- Sequence:
RefSeq Acc Id: XP_024302164   ⟸   XM_024446396
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: NP_001337415   ⟸   NM_001350486
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001337421   ⟸   NM_001350492
- Peptide Label: isoform 11
- Sequence:
RefSeq Acc Id: NP_001337416   ⟸   NM_001350487
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001337422   ⟸   NM_001350493
- Peptide Label: isoform 11
- Sequence:
RefSeq Acc Id: NP_001337420   ⟸   NM_001350491
- Peptide Label: isoform 10
- Sequence:
RefSeq Acc Id: XP_024302163   ⟸   XM_024446395
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001337419   ⟸   NM_001350490
- Peptide Label: isoform 9
- Sequence:
RefSeq Acc Id: ENSP00000400776   ⟸   ENST00000423867
RefSeq Acc Id: ENSP00000399804   ⟸   ENST00000450635
RefSeq Acc Id: ENSP00000391022   ⟸   ENST00000453602
RefSeq Acc Id: ENSP00000478253   ⟸   ENST00000611279
RefSeq Acc Id: ENSP00000407070   ⟸   ENST00000441122
RefSeq Acc Id: ENSP00000356277   ⟸   ENST00000367308
RefSeq Acc Id: ENSP00000356276   ⟸   ENST00000367307
RefSeq Acc Id: ENSP00000356290   ⟸   ENST00000367321
RefSeq Acc Id: ENSP00000479539   ⟸   ENST00000618312
RefSeq Acc Id: ENSP00000395158   ⟸   ENST00000420192
Protein Domains
THF_DHG_CYH   THF_DHG_CYH_C

Promoters
RGD ID:7209441
Promoter ID:EPDNEW_H10465
Type:initiation region
Name:MTHFD1L_1
Description:methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386150,865,710 - 150,865,770EPDNEW
RGD ID:6803942
Promoter ID:HG_KWN:55433
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000367307,   OTTHUMT00000042699,   OTTHUMT00000042700,   OTTHUMT00000042704,   OTTHUMT00000042705,   UC003QOA.1,   UC010KIL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366151,228,321 - 151,230,212 (+)MPROMDB
RGD ID:6804475
Promoter ID:HG_KWN:55434
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC003QOC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366151,236,861 - 151,237,361 (+)MPROMDB
RGD ID:6804472
Promoter ID:HG_KWN:55436
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000042706,   OTTHUMT00000042707
Position:
Human AssemblyChrPosition (strand)Source
Build 366151,244,811 - 151,245,311 (+)MPROMDB
RGD ID:6804038
Promoter ID:HG_KWN:55437
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000367310,   ENST00000392243
Position:
Human AssemblyChrPosition (strand)Source
Build 366151,247,461 - 151,247,961 (+)MPROMDB
RGD ID:6804473
Promoter ID:HG_KWN:55441
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:OTTHUMT00000042703
Position:
Human AssemblyChrPosition (strand)Source
Build 366151,377,094 - 151,377,594 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001242767.1(MTHFD1L):c.2851-16079A>G single nucleotide variant Lung cancer [RCV000096606] Chr6:151076388 [GRCh38]
Chr6:151397524 [GRCh37]
Chr6:6q25.1
uncertain significance
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27
pathogenic
GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1 copy number loss See cases [RCV000051005] Chr6:146481119..151427629 [GRCh38]
Chr6:146802255..151748764 [GRCh37]
Chr6:146843948..151790457 [NCBI36]
Chr6:6q24.3-25.1
pathogenic
GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1 copy number loss See cases [RCV000052206] Chr6:144932561..152985364 [GRCh38]
Chr6:145253697..153306499 [GRCh37]
Chr6:145295390..153348192 [NCBI36]
Chr6:6q24.2-25.2
pathogenic
NM_001242767.1(MTHFD1L):c.228-30A>G single nucleotide variant Malignant melanoma [RCV000067174] Chr6:150876060 [GRCh38]
Chr6:151197196 [GRCh37]
Chr6:151238889 [NCBI36]
Chr6:6q25.1
not provided
NM_001242767.1(MTHFD1L):c.2031C>T (p.Phe677=) single nucleotide variant Malignant melanoma [RCV000067175] Chr6:150971961 [GRCh38]
Chr6:151293097 [GRCh37]
Chr6:151334790 [NCBI36]
Chr6:6q25.1
not provided
GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)x1 copy number loss See cases [RCV000135408] Chr6:147805119..150893715 [GRCh38]
Chr6:148126255..151214851 [GRCh37]
Chr6:148167948..151256544 [NCBI36]
Chr6:6q24.3-25.1
pathogenic
GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3 copy number gain See cases [RCV000136826] Chr6:135358150..155455117 [GRCh38]
Chr6:135679288..155776251 [GRCh37]
Chr6:135720981..155817943 [NCBI36]
Chr6:6q23.3-25.3
pathogenic
GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1 copy number loss See cases [RCV000139578] Chr6:150381239..159553952 [GRCh38]
Chr6:150702375..159974984 [GRCh37]
Chr6:150744068..159894974 [NCBI36]
Chr6:6q25.1-25.3
pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 copy number gain See cases [RCV000143444] Chr6:133537271..165875545 [GRCh38]
Chr6:133858409..166289033 [GRCh37]
Chr6:133900102..166209023 [NCBI36]
Chr6:6q23.2-27
pathogenic
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 copy number gain See cases [RCV000449011] Chr6:151214792..170892243 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1 copy number loss See cases [RCV000448815] Chr6:144075695..152337005 [GRCh37]
Chr6:6q24.2-25.1
pathogenic
GRCh37/hg19 6q25.1(chr6:150981044-151304777)x3 copy number gain See cases [RCV000448234] Chr6:150981044..151304777 [GRCh37]
Chr6:6q25.1
likely benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3 copy number gain not provided [RCV000746100] Chr6:150284435..170919470 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6q25.1(chr6:151145278-151199071)x3 copy number gain not provided [RCV000746105] Chr6:151145278..151199071 [GRCh37]
Chr6:6q25.1
benign
NM_015440.4(MTHFD1L):c.1503C>T (p.Ala501=) single nucleotide variant not provided [RCV000958885] Chr6:150944548 [GRCh38]
Chr6:151265684 [GRCh37]
Chr6:6q25.1
benign
GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1 copy number loss not provided [RCV001005856] Chr6:149431322..154120064 [GRCh37]
Chr6:6q25.1-25.2
pathogenic
GRCh37/hg19 6q25.1(chr6:151125814-151676908)x3 copy number gain not provided [RCV000848574] Chr6:151125814..151676908 [GRCh37]
Chr6:6q25.1
uncertain significance
GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3 copy number gain not provided [RCV000846496] Chr6:148195086..160127254 [GRCh37]
Chr6:6q24.3-25.3
pathogenic
NM_015440.4(MTHFD1L):c.1257-8G>A single nucleotide variant not provided [RCV000911913] Chr6:150936796 [GRCh38]
Chr6:151257932 [GRCh37]
Chr6:6q25.1
likely benign
GRCh37/hg19 6q25.1(chr6:151121109-151664579)x3 copy number gain not provided [RCV001259973] Chr6:151121109..151664579 [GRCh37]
Chr6:6q25.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21055 AgrOrtholog
COSMIC MTHFD1L COSMIC
Ensembl Genes ENSG00000120254 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000356276 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000356277 UniProtKB/TrEMBL
  ENSP00000356290 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391022 UniProtKB/TrEMBL
  ENSP00000395158 UniProtKB/TrEMBL
  ENSP00000399804 UniProtKB/TrEMBL
  ENSP00000400776 UniProtKB/TrEMBL
  ENSP00000407070 UniProtKB/TrEMBL
  ENSP00000478253 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000479539 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000367307 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000367308 UniProtKB/TrEMBL
  ENST00000367321 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000420192 UniProtKB/TrEMBL
  ENST00000423867 UniProtKB/TrEMBL
  ENST00000441122 UniProtKB/TrEMBL
  ENST00000450635 UniProtKB/TrEMBL
  ENST00000453602 UniProtKB/TrEMBL
  ENST00000611279 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000618312 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000120254 GTEx
HGNC ID HGNC:21055 ENTREZGENE
Human Proteome Map MTHFD1L Human Proteome Map
InterPro Formate_THF_ligase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formate_THF_ligase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DH/CycHdrlase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DH/CycHdrlase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DH/CycHdrlase_NAD-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:25902 UniProtKB/Swiss-Prot
NCBI Gene 25902 ENTREZGENE
OMIM 611427 OMIM
Pfam FTHFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DHG_CYH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DHG_CYH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134927803 PharmGKB
PRINTS THFDHDRGNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FTHFS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FTHFS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.591343 ENTREZGENE
UniProt A0A087WVM4 ENTREZGENE, UniProtKB/TrEMBL
  B2RD24 ENTREZGENE, UniProtKB/TrEMBL
  B7ZM99 ENTREZGENE, UniProtKB/TrEMBL
  C1TM_HUMAN UniProtKB/Swiss-Prot
  H0Y327_HUMAN UniProtKB/TrEMBL
  Q4VXM0_HUMAN UniProtKB/TrEMBL
  Q4VXM1_HUMAN UniProtKB/TrEMBL
  Q4VXV2_HUMAN UniProtKB/TrEMBL
  Q5JYA3_HUMAN UniProtKB/TrEMBL
  Q5JYA8_HUMAN UniProtKB/TrEMBL
  Q6UB35 ENTREZGENE
UniProt Secondary Q2TBF3 UniProtKB/Swiss-Prot
  Q8WVW0 UniProtKB/Swiss-Prot
  Q96HG8 UniProtKB/Swiss-Prot
  Q9H789 UniProtKB/Swiss-Prot
  Q9UFU8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-06-20 MTHFD1L  methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like    methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like  Symbol and/or name change 5135510 APPROVED