Gene: mthfr

Basic information

Tag Content
Uniprot ID B0V153
Entrez ID 567547
Genbank protein ID
Genbank nucleotide ID NM_001281840.1; NM_001128255.2;
Ensembl protein ID ENSDARP00000069553; ENSDARP00000121987;
Ensembl nucleotide ID ENSDARG00000053087
Gene name Methylenetetrahydrofolate reductase
Gene symbol mthfr
Organism Danio rerio
NCBI taxa ID 7955
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MVNQRADVGW HSKSDSSGAS NSGESSRESS RCSTPVPDAD RTDRLRDKMK RRIESGDHWF 60
SLEFFPPRTS SGAVNLISRF DRMGSGGPLF IDITWHPAGD PGSDKETSSM MIASTAVNYC 120
GLESVLHLTC CNQTKEKITD HLNKAKRLGL KNIMALRGDP VGEDWVEEDG GFNFATDLVK 180
HIRHEFDDYF DICVAGYPTG HPEAESYEDD LRHLKEKVDA GAHFIVTQLF FRAETFLKFV 240
KDCRAIGITC PILPGIFPIQ GYHSLRQLVK LSKLEVPEEI KQVIEPIKDN DAAIRNYGIQ 300
QAVEMCKVLL ASGEVSGLHF YTLNREVATM EVLRQLGLWA EDPRRPLPWA ISAHPKRKVE 360
DVRPIFWASR PKSYIYRTQD WDDFPNGRWG NSSSPAFGEL TDYYLFYLKS KSPKEALLQM 420
WGEELMSEES VYEVFTNYIT GQTNRSGHKV MCLPWNDDPL APETNLLKDE LEKVNRRGVL 480
TINSQPNING KASSDAIVGW GPAGGYVFQK AYLEFFTSSE NVTALLQVLK KYEPRVNYQI 540
VNVQGRNITN AHDMQPNAVT WGIFPGREII QPTVVDPVSF MYWKDEAFAL WIEQWAKLYE 600
DESPSRMIIQ YIHDNYFLVN LVDNDFPLDN CLWQVIEDMF ALLDSSQVPQ QEANEL 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:0106312 methylenetetrahydrofolate reductase NADH activity
GO:0106313 methylenetetrahydrofolate reductase NADPH activity
GO:0009086 methionine biosynthetic process
GO:0035999 tetrahydrofolate interconversion

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-like

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF02219 MTHFR