Gene: MTHFR

Basic information

Tag Content
Uniprot ID E2QXW9
Entrez ID
Genbank protein ID
Genbank nucleotide ID
Ensembl protein ID ENSCAFP00000024357
Ensembl nucleotide ID ENSCAFG00000016558
Gene name Methylenetetrahydrofolate reductase
Gene symbol MTHFR
Organism Canis lupus familiaris
NCBI taxa ID 9615
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MDQPPPGVLP ATVRCSRLGL WTLEAGRVGF SVPPSISRSP AMVKEPRGDG DGGPTPRSEG 60
SSSGSESSKD SSRCSTPGLD PERHERLREK MRRRMESGDR WFSLEFFPPR TAEGAVNLIS 120
RFDRMGAGGP LFIDVTWHPA GDPGSDKETS SMMIASTAVN YCGLETILHM TCCCQSREQI 180
TGYLHKAKRL GLKNILALRG XXVGDQWEVV EGGFSYAADL VRHIRSEFGD YFDICVAGYP 240
KGHPDAGSFE ADLKYLKEKV SAGADFIITQ LFFEADTFFH FVKACSEIGI TCPILPGIFP 300
IQGYHSLRQL VKLSKLEVPQ QIKDVIEPIK DNDAAIRNYG IEQAVSLCQE LLTSGLVPGL 360
HFYTLNREMA TTEVLKRLGM WIEDPRRPLP WAVSAHPKRR EEDVRPIFWA SRPKSYIYRT 420
QEWDEFPNGR WGNSSSPAFG ELKDYYLFYL KSKSPREELL KMWGEELTSE ESVFEVFARY 480
LSGEPNQHGY KVTCLPWNDE PLAAETSLMK EELLRVNRQG ILTINSQPNI NGKPSSDPIV 540
GWGPSGGYVF QKAYLEFFTS RETVGALLQV LKKYELRVNY HIVDVKGENI TNAPELQPNA 600
VTWGIFPGRE IIQPTVVDPV SFMFWKDEAF ALWIEQWGKL YEEESPSRMI IQYIHDNYFL 660
VNLVDNEFPL DNCLWQVVED TFELLKGPSP EREAEAV 697

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:0009086 methionine biosynthetic process
GO:0006730 one-carbon 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