Gene: MTHFR

Basic information

Tag Content
Uniprot ID A0A3Q1M8J1
Entrez ID 497032
Genbank protein ID
Genbank nucleotide ID XM_015475084.1
Ensembl protein ID ENSBTAP00000066765; ENSBTAP00000059159;
Ensembl nucleotide ID ENSBTAG00000020698
Gene name Methylenetetrahydrofolate reductase
Gene symbol MTHFR
Organism Bos taurus
NCBI taxa ID 9913
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MVNEPRGNGS PGPRWEGSSS GSESSKDSSR CSTPGLDPER CERLREKMKR RMDSGDKWFS 60
LEFFPPRTAQ GAVNLISRFD RMGAGGPLFV DVTWHPAGDP GSDKETSSMV IASTAVNYCG 120
LETILHMTCC HQSREEITGH LNKAKQLGLK NILALRGDPI GDQWEEEEGG FNYATDLVKH 180
IRNEFGDYFD VCVAGYPKGH PEGESFEADL KHLKEKVAAG ADFIITQLFF EAETFFRFVK 240
ACSEIGITCP ILPGIFPIQG YHSLRQLVKL SKLEVPQQIK DVIEPIKDND AAIRNYGIEQ 300
AVSLCQELLA SGLVPGLHFY TLNREVATIE VLKRLGLWIE DPRRPLPWAL SAHPKRRVED 360
VRPIFWASRP KSYIYRTQEW DEFPNGRWGN SSSPAFGELK DYYLFYLKSK SPKEELLKMW 420
GEELTSEESV FQVFAHYLSG EPNQNGYKVT CLPWNDEPLA AETSLMKEEL LRVNRRGILT 480
INSQPNINGK PSSDPIVGWG PSGGYVFQKA YLEFFTSRET VEALLQVLKK YELRVNYHIV 540
DVKGENITNA PELQPNAVTW GIFPGREIIQ PTVVDPVSFM FWKDEAFALW IEQWGKLYEE 600
ESPSRMIIQY IHDNYFLVNL VDNEFPLDNC LWQVVEDTFE LLSRPPQDKR ETEAL 655

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:0004489 methylenetetrahydrofolate reductase (NAD(P)H) activity
GO:0006555 methionine metabolic process
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