Gene: Mthfr

Basic information

Tag Content
Uniprot ID D4A7E8
Entrez ID 362657
Genbank protein ID EDL81095.1
Genbank nucleotide ID XM_001074061.6; XM_342975.7;
Ensembl protein ID ENSRNOP00000011384
Ensembl nucleotide ID ENSRNOG00000008553
Gene name Methylenetetrahydrofolate reductase
Gene symbol Mthfr
Organism Rattus norvegicus
NCBI taxa ID 10116
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MNHQKAGVLP DGHCYTSLGM WASEAGCVGL SVPPSISRNP AMSNEARRSG SPSPRSEGSS 60
SGSESSKDSS RCSTPSLDPD RHERLREKMR RRMDSGDKWF SLEFFPPRTA EGAVNLISRF 120
DRMAAGGPLF VDVTWHPAGD PGSDKETSSM MIASTALNYC GLETILHMTC CQQRQEEISG 180
HLHRAKQLGL KNIMALRGDP VGDHWEAEEG GFSYATDLVK HIRNEFGDYF DICVAGYPKG 240
HPDAESFEDD LKHLKEKVSA GADFIITQLF FEASSFFSFV KACEDIGISC PILPGIFPIQ 300
GYTSLRQLVK LSKLEVPQTI KDVIEPIKDN DAAIRNYGIE LAVNLCRELL DSGLVPGLHF 360
YTLNREVATM EVLKQLGMWT EDPRRPLPWA VSAHPKRREE DVRPIFWASR PKSYIYRTQG 420
WDEFPNGRWG NSSSPAFGEL KDYYLFYLKS KSPREELLKM WGEELTSEES VFEVFEHYLS 480
GEPNRHGYRV TCLPWNDEPL AAETSLMKEE LLRVNRLGIL TINSQPNING KPSSDPVVGW 540
GPSGGYVFQK AYLEFFTSRE TVEALLQVLK TYELRVNYHI VDVKGENITN APELQPNAVT 600
WGIFPGREIV QPTVVDPISF MFWKDEAFAL WIEQWGKLYE EESPSRMIIQ YIHDNYFLVN 660
LVDNEFLLDN CLWQVVEDTF ELLNRHTTKK EAQAP 695

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologMTHFR497032A0A3Q1M8J1Bos taurusPredictionMore>>
1:1 orthologMTHFRE2QXW9Canis lupus familiarisPredictionMore>>
1:1 orthologMTHFR102182523A0A452G4N1Capra hircusPredictionMore>>
1:1 orthologMTHFRA0A3Q2HUW6Equus caballusPredictionMore>>
1:1 orthologMTHFR4524P42898CPO,CL/PHomo sapiensPublicationMore>>
1:1 orthologMthfrA2A7F9Mus musculusPredictionMore>>
1:1 orthologMTHFR469800H2PY11Pan troglodytesPredictionMore>>
1:1 ortholog397180F1RF82Sus scrofaPredictionMore>>
1:1 orthologMthfr362657D4A7E8Rattus norvegicusPredictionMore>>
1:1 orthologmthfr567547B0V153Danio rerioPredictionMore>>

Gene ontology

GO ID GO Term
GO:0005829 cytosol
GO:0045202 synapse
GO:0071949 FAD binding
GO:0050660 flavin adenine dinucleotide binding
GO:0004489 methylenetetrahydrofolate reductase (NAD(P)H) activity
GO:0072341 modified amino acid binding
GO:0050661 NADP binding
GO:0044877 protein-containing complex binding
GO:0070829 heterochromatin maintenance
GO:0050667 homocysteine metabolic process
GO:0009086 methionine biosynthetic process
GO:0006555 methionine metabolic process
GO:0001843 neural tube closure
GO:0006730 one-carbon metabolic process
GO:0031060 regulation of histone methylation
GO:0043200 response to amino acid
GO:0042493 response to drug
GO:0051593 response to folic acid
GO:0001666 response to hypoxia
GO:0070555 response to interleukin-1
GO:0033274 response to vitamin B2
GO:0046500 S-adenosylmethionine metabolic process
GO:0035999 tetrahydrofolate interconversion
GO:0046653 tetrahydrofolate metabolic process

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0274 FAD
KW-0285 Flavoprotein
KW-0560 Oxidoreductase
KW-1267 Proteomics identification
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR029041 FAD-linked_oxidoreductase-like
IPR004621 Fadh2_euk
IPR003171 Mehydrof_redctse

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF02219 MTHFR