Gene: MTHFR

Basic information

Tag Content
Uniprot ID H2PY11; K7DTF1;
Entrez ID 469800
Genbank protein ID JAA43157.1; JAA43156.1;
Genbank nucleotide ID XM_009448355.2; XM_001141040.4;
Ensembl protein ID ENSPTRP00000000294
Ensembl nucleotide ID ENSPTRG00000000153
Gene name Methylenetetrahydrofolate reductase
Gene symbol MTHFR
Organism Pan troglodytes
NCBI taxa ID 9598
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MVNEARGNSS LNPCLEGSAS SGSESSKDSS RCSTPGLDPE RHERLREKMR RRLESGDKWF 60
SLEFFPPRTA EGAVNLISRF DRMAAGGPLY IDVTWHPAGD PGSDKETSSM MIASTAVNYC 120
GLETILHMTC CRQRLEEITG HLHKAKQLGL KNIMALRGDP IGDQWEEEEG GFNYAVDLVK 180
HIRSEFGDYF DICVAGYPKG HPEAGSFEAD LKHLKEKVSA GADFIITQLF FEADTFFRFV 240
KACTDMGITC PIVPGIFPIQ GYHSLRQLVK LSKLEVPQEI KDVIEPIKDN DAAIRNYGIE 300
LAVSLCQELL ASGLVPGLHF YTLNREMATT EVLKRLGMWT EDPRRPLPWA LSAHPKRREE 360
DVRPIFWASR PKSYIYRTQE WDEFPNGRWG NSSSPAFGEL KDYYLFYLKS KSPKEELLKM 420
WGEELTSEES VFEVFVLYLS GEPNRNGHKV TCLPWNDEPL AAETSLLKKE LLRVNRQGIL 480
TINSQPNING KPSSDPIVGW GPSGGYVFQK AYLEFFTSRE TAEALLQVLK KYELRVNYHL 540
VNVKGENITN APELQPNAVT WGIFPGREII QPTVVDPVSF MFWKDEAFAL WIERWGKLYE 600
EESPSRSIIQ YIHDNYFLVN LVDNDFPLDN CLWQVVEDTL ELVNRPTQNA RETEAP 656

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:0071949 FAD binding
GO:0004489 methylenetetrahydrofolate reductase (NAD(P)H) activity
GO:0072341 modified amino acid binding
GO:0044877 protein-containing complex binding
GO:0070829 heterochromatin maintenance
GO:0050667 homocysteine metabolic process
GO:0009086 methionine biosynthetic process
GO:0001843 neural tube closure
GO:0006730 one-carbon metabolic process
GO:0031060 regulation of histone methylation
GO:0035999 tetrahydrofolate interconversion

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0274 FAD
KW-0285 Flavoprotein
KW-0560 Oxidoreductase
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