MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1) - Rat Genome Database

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Gene: MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1) Canis lupus familiaris
Analyze
Symbol: MTHFD1
Name: methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
RGD ID: 12399117
Description: ENCODES a protein that exhibits methylenetetrahydrofolate dehydrogenase (NAD+) activity (ortholog); methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (ortholog); INVOLVED IN 10-formyltetrahydrofolate biosynthetic process (ortholog); heart development (ortholog); methionine biosynthetic process (ortholog); PARTICIPATES IN altered folate cycle metabolic pathway; altered folate mediated one-carbon metabolic pathway; folate cycle metabolic pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); cleft palate (ortholog); Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia (ortholog); FOUND IN cytosol (inferred)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: C-1-tetrahydrofolate synthase, cytoplasmic
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: CanFam3.1 - Dog CanFam3.1 Assembly
Position:
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1838,831,672 - 38,889,607 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl838,831,860 - 38,889,453 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha838,523,089 - 38,581,005 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0839,053,525 - 39,110,717 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl839,053,695 - 39,110,711 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1838,674,867 - 38,732,782 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0838,746,016 - 38,804,174 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0839,107,099 - 39,164,254 (+)NCBIUU_Cfam_GSD_1.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IEA)

References
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
MTHFD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1838,831,672 - 38,889,607 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl838,831,860 - 38,889,453 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha838,523,089 - 38,581,005 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0839,053,525 - 39,110,717 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl839,053,695 - 39,110,711 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1838,674,867 - 38,732,782 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0838,746,016 - 38,804,174 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0839,107,099 - 39,164,254 (+)NCBIUU_Cfam_GSD_1.0
MTHFD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381464,388,353 - 64,460,025 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1464,388,031 - 64,463,457 (+)EnsemblGRCh38hg38GRCh38
GRCh371464,855,071 - 64,926,743 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361463,924,846 - 63,996,474 (+)NCBINCBI36Build 36hg18NCBI36
Build 341463,924,845 - 63,996,474NCBI
Celera1444,912,512 - 44,984,454 (+)NCBICelera
Cytogenetic Map14q23.3NCBI
HuRef1445,027,910 - 45,099,523 (+)NCBIHuRef
CHM1_11464,794,532 - 64,866,438 (+)NCBICHM1_1
T2T-CHM13v2.01458,596,072 - 58,667,774 (+)NCBIT2T-CHM13v2.0
Mthfd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391276,301,180 - 76,366,594 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1276,302,072 - 76,366,577 (+)EnsemblGRCm39 Ensembl
GRCm381276,254,406 - 76,319,820 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1276,255,298 - 76,319,803 (+)EnsemblGRCm38mm10GRCm38
MGSCv371277,356,219 - 77,420,807 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361277,174,248 - 77,238,643 (+)NCBIMGSCv36mm8
Celera1277,346,103 - 77,410,765 (+)NCBICelera
Cytogenetic Map12C3NCBI
cM Map1233.52NCBI
Mthfd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86100,713,510 - 100,781,013 (+)NCBIGRCr8
mRatBN7.2694,977,862 - 95,045,375 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl694,977,862 - 95,045,372 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx695,371,191 - 95,438,507 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0695,669,698 - 95,737,014 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0695,098,499 - 95,165,827 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0699,282,850 - 99,350,367 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl699,282,850 - 99,350,340 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06108,694,405 - 108,761,922 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4698,849,446 - 98,916,936 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1698,852,901 - 98,920,392 (+)NCBI
Celera693,402,792 - 93,470,182 (+)NCBICelera
Cytogenetic Map6q24NCBI
Mthfd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554665,420,702 - 5,485,773 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554665,422,141 - 5,485,773 (-)NCBIChiLan1.0ChiLan1.0
MTHFD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21565,499,740 - 65,571,719 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11464,716,255 - 64,788,232 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01444,969,573 - 45,041,296 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11463,223,484 - 63,293,881 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1463,223,484 - 63,293,881 (+)Ensemblpanpan1.1panPan2
Mthfd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864066,022,476 - 66,090,639 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364958,100,912 - 8,171,800 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364958,100,977 - 8,170,244 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTHFD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl788,471,414 - 88,537,387 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1788,471,317 - 88,533,690 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2794,832,549 - 94,894,977 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MTHFD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12441,590,655 - 41,663,551 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2441,590,590 - 41,666,952 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605329,766,843 - 29,840,674 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mthfd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473436,560,486 - 36,620,026 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473436,560,486 - 36,620,043 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MTHFD1
397 total Variants

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 reproductive system respiratory system adipose tissue
High
Medium 5 5 22 6 6 6 6 6 12 10 6
Low 8
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts XM_005623492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038483459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038483460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038544919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038544920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038589182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038609035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038609036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038673840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038673841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_537476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AAEX04000008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAAHUQ010000087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAAQRD010000096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAAUVH010000053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  REHQ01000008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENSCAFT00000025366   ⟹   ENSCAFP00000023552
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl838,831,860 - 38,889,453 (+)Ensembl
RefSeq Acc Id: ENSCAFT00000025384   ⟹   ENSCAFP00000023570
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl838,843,940 - 38,889,453 (+)Ensembl
RefSeq Acc Id: ENSCAFT00000082145   ⟹   ENSCAFP00000050757
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl838,831,860 - 38,884,322 (+)Ensembl
RefSeq Acc Id: ENSCAFT00845003522   ⟹   ENSCAFP00845002795
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl839,053,695 - 39,110,711 (+)Ensembl
RefSeq Acc Id: XM_038483459   ⟹   XP_038339387
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UMICH_Zoey_3.1838,674,867 - 38,732,782 (+)NCBI
RefSeq Acc Id: XM_038483460   ⟹   XP_038339388
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UMICH_Zoey_3.1838,675,053 - 38,732,782 (+)NCBI
RefSeq Acc Id: XM_038544919   ⟹   XP_038400847
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UU_Cfam_GSD_1.0839,107,099 - 39,164,254 (+)NCBI
RefSeq Acc Id: XM_038544920   ⟹   XP_038400848
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UU_Cfam_GSD_1.0839,107,285 - 39,164,254 (+)NCBI
RefSeq Acc Id: XM_038589182   ⟹   XP_038445110
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
Dog10K_Boxer_Tasha838,523,275 - 38,581,005 (+)NCBI
RefSeq Acc Id: XM_038609035   ⟹   XP_038464963
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UNSW_CanFamBas_1.0838,746,016 - 38,804,174 (+)NCBI
RefSeq Acc Id: XM_038609036   ⟹   XP_038464964
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UNSW_CanFamBas_1.0838,746,202 - 38,804,174 (+)NCBI
RefSeq Acc Id: XM_038673840   ⟹   XP_038529768
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0839,053,525 - 39,110,717 (+)NCBI
RefSeq Acc Id: XM_038673841   ⟹   XP_038529769
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0839,053,711 - 39,110,717 (+)NCBI
RefSeq Acc Id: XM_537476   ⟹   XP_537476
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1838,831,672 - 38,889,607 (+)NCBI
Dog10K_Boxer_Tasha838,523,089 - 38,581,005 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: XP_537476   ⟸   XM_537476
- Peptide Label: isoform X1
- UniProtKB: A0A8C0QQP0 (UniProtKB/TrEMBL),   A0A8I3MJJ7 (UniProtKB/TrEMBL),   A0A8C0P838 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSCAFP00000023570   ⟸   ENSCAFT00000025384
RefSeq Acc Id: ENSCAFP00000023552   ⟸   ENSCAFT00000025366
RefSeq Acc Id: ENSCAFP00000050757   ⟸   ENSCAFT00000082145
RefSeq Acc Id: XP_038339387   ⟸   XM_038483459
- Peptide Label: isoform X1
RefSeq Acc Id: XP_038339388   ⟸   XM_038483460
- Peptide Label: isoform X2
RefSeq Acc Id: XP_038464963   ⟸   XM_038609035
- Peptide Label: isoform X1
RefSeq Acc Id: XP_038464964   ⟸   XM_038609036
- Peptide Label: isoform X2
RefSeq Acc Id: XP_038529768   ⟸   XM_038673840
- Peptide Label: isoform X1
- UniProtKB: A0A8C0QQP0 (UniProtKB/TrEMBL),   A0A8I3MJJ7 (UniProtKB/TrEMBL),   A0A8C0P838 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038529769   ⟸   XM_038673841
- Peptide Label: isoform X2
- UniProtKB: A0A8C0QKW9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038445110   ⟸   XM_038589182
- Peptide Label: isoform X2
- UniProtKB: A0A8C0QKW9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038400847   ⟸   XM_038544919
- Peptide Label: isoform X1
- UniProtKB: A0A8C0P838 (UniProtKB/TrEMBL),   A0A8C0QQP0 (UniProtKB/TrEMBL),   A0A8I3MJJ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038400848   ⟸   XM_038544920
- Peptide Label: isoform X2
- UniProtKB: A0A8C0QKW9 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSCAFP00845002795   ⟸   ENSCAFT00845003522
Protein Domains
Tetrahydrofolate dehydrogenase/cyclohydrolase

Promoters
RGD ID:13684241
Promoter ID:EPDNEW_C2309
Type:initiation region
Name:MTHFD1_1
Description:methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolatesynthetase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1838,831,947 - 38,832,007EPDNEW

Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCAFG00000015967 Ensembl, UniProtKB/TrEMBL
  ENSCAFG00030020085 UniProtKB/TrEMBL
  ENSCAFG00040007688 UniProtKB/TrEMBL
  ENSCAFG00845002014 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCAFT00000025366.6 UniProtKB/TrEMBL
  ENSCAFT00030037525.1 UniProtKB/TrEMBL
  ENSCAFT00030037727.1 UniProtKB/TrEMBL
  ENSCAFT00040014305.1 UniProtKB/TrEMBL
  ENSCAFT00040014447.1 UniProtKB/TrEMBL
  ENSCAFT00040014584.1 UniProtKB/TrEMBL
  ENSCAFT00040014686.1 UniProtKB/TrEMBL
  ENSCAFT00845003522 ENTREZGENE
  ENSCAFT00845003522.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.8.770 UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/TrEMBL
  Formyltetrahydrofolate synthetase, domain 3 UniProtKB/TrEMBL
  Leucine Dehydrogenase, chain A, domain 1 UniProtKB/TrEMBL
  NAD(P)-binding Rossmann-like Domain UniProtKB/TrEMBL
InterPro Aminiacid_DH-like_N_sf UniProtKB/TrEMBL
  Formate_THF_ligase UniProtKB/TrEMBL
  Formate_THF_ligase_CS UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/TrEMBL
  THF_DH/CycHdrlase UniProtKB/TrEMBL
  THF_DH/CycHdrlase_cat_dom UniProtKB/TrEMBL
  THF_DH/CycHdrlase_CS UniProtKB/TrEMBL
  THF_DH/CycHdrlase_NAD-bd_dom UniProtKB/TrEMBL
NCBI Gene MTHFD1 ENTREZGENE
PANTHER C-1-TETRAHYDROFOLATE SYNTHASE, CYTOPLASMIC UniProtKB/TrEMBL
  C-1-TETRAHYDROFOLATE SYNTHASE, CYTOPLASMIC-RELATED UniProtKB/TrEMBL
Pfam FTHFS UniProtKB/TrEMBL
  THF_DHG_CYH UniProtKB/TrEMBL
  THF_DHG_CYH_C UniProtKB/TrEMBL
PRINTS THFDHDRGNASE UniProtKB/TrEMBL
PROSITE FTHFS_1 UniProtKB/TrEMBL
  FTHFS_2 UniProtKB/TrEMBL
  THF_DHG_CYH_1 UniProtKB/TrEMBL
  THF_DHG_CYH_2 UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/TrEMBL
  SSF52540 UniProtKB/TrEMBL
  SSF53223 UniProtKB/TrEMBL
UniProt A0A8C0P838 ENTREZGENE, UniProtKB/TrEMBL
  A0A8C0QKM5_CANLF UniProtKB/TrEMBL
  A0A8C0QKW9 ENTREZGENE, UniProtKB/TrEMBL
  A0A8C0QQP0 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I3MJJ7 ENTREZGENE, UniProtKB/TrEMBL
VGNC ID VGNC:43472 ENTREZGENE