MTR
entrez
4548
canonical
uniprot
Q99707
canonical
ensembl
ENSG00000116984
resolver
ensp
ENSP00000355535
resolver
ensp
ENSP00000355536
resolver
ensp
ENSP00000441845
resolver
ensp
ENSP00000502299
resolver
ensp
ENSP00000506109
resolver
ensp
ENSP00000631860
resolver
ensp
ENSP00000665106
resolver
enst
ENST00000679842
resolver
genesymbol
MTR
resolver
hgnc
HGNC:7468
resolver
uniprot
A0A7P0TAJ0
resolver
uniprot
A1L4N8
resolver
uniprot
A9Z1W4
resolver
uniprot
B7ZLW7
resolver
uniprot
B9EGF7
resolver
uniprot
Q99713
resolver
uniprot
Q99723
resolver
uniprot_entry
A0A7P0TAJ0_HUMAN
resolver
uniprot_entry
METH_HUMAN
resolver
uniprot_sec
A1L4N8
resolver
uniprot_sec
A9Z1W4
resolver
uniprot_sec
B7ZLW7
resolver
uniprot_sec
B9EGF7
resolver
uniprot_sec
Q99713
resolver
uniprot_sec
Q99723
resolver
amino_acid_sequence
MSPALQDLSQPEGLKKTLRDEINAILQKRIMVLDGGMGTMIQREKLNEEHFRGQEFKDHARPLKGNNDILSITQPDVIYQIHKEYLLAGADIIETNTFSSTSIAQADYGLEHLAYRMNMCSAGVARKAAEEVTLQTGIKRFVAGALGPTNKTLSVSPSVERPDYRNITFDELVEAYQEQAKGLLDGGVDILLIETIFDTANAKAALFALQNLFEEKYAPRPIFISGTIVDKSGRTLSGQTGEGFVISVSHGEPLCIGLNCALGAAEMRPFIEIIGKCTTAYVLCYPNAGLPNTFGDYDETPSMMAKHLKDFAMDGLVNIVGGCCGSTPDHIREIAEAVKNCKPRVPPATAFEGHMLLSGLEPFRIGPYTNFVNIGERCNVAGSRKFAKLIMAGNYEEALCVAKVQVEMGAQVLDVNMDDGMLDGPSAMTRFCNLIASEPDIAKVPLCIDSSNFAVIEAGLKCCQGKCIVNSISLKEGEDDFLEKARKIKKYGAAMVVMAFDEEGQATETDTKIRVCTRAYHLLVKKLGFNPNDIIFDPNILTIGTGMEEHNLYAINFIHATKVIKETLPGARISGGLSNLSFSFRGMEAIREAMHGVFLYHAIKSGMDMGIVNAGNLPVYDDIHKELLQLCEDLIWNKDPEATEKLLRYAQTQGTGGKKVIQTDEWRNGPVEERLEYALVKGIEKHIIEDTEEARLNQKKYPRPLNIIEGPLMNGMKIVGDLFGAGKMFLPQVIKSARVMKKAVGHLIPFMEKEREETRVLNGTVEEEDPYQGTIVLATVKGDVHDIGKNIVGVVLGCNNFRVIDLGVMTPCDKILKAALDHKADIIGLSGLITPSLDEMIFVAKEMERLAIRIPLLIGGATTSKTHTAVKIAPRYSAPVIHVLDASKSVVVCSQLLDENLKDEYFEEIMEEYEDIRQDHYESLKERRYLPLSQARKSGFQMDWLSEPHPVKPTFIGTQVFEDYDLQKLVDYIDWKPFFDVWQLRGKYPNRGFPKIFNDKTVGGEARKVYDDAHNMLNTLISQKKLRARGVVGFWPAQSIQDDIHLYAEAAVPQAAEPIATFYGLRQQAEKDSASTEPYYCLSDFIAPLHSGIRDYLGLFAVACFGVEELSKAYEDDGDDYSSIMVKALGDRLAEAFAEELHERVRRELWAYCGSEQLDVADLRRLRYKGIRPAPGYPSQPDHTEKLTMWRLADIEQSTGIRLTESLAMAPASAVSGLYFSNLKSKYFAVGKISKDQVEDYALRKNISVAEVEKWLGPILGYDTD
uniprot
proteins
disease_involvement
DISEASE: Homocystinuria-megaloblastic anemia, cblG type (HMAG) [MIM:250940]: An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia. {ECO:0000269|PubMed:8968736, ECO:0000269|PubMed:8968737}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neural tube defects, folate-sensitive (NTDFS) [MIM:601634]: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. {ECO:0000269|PubMed:12375236}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.13
uniprot
proteins
function
FUNCTION: Catalyzes the transfer of a methyl group from methylcob(III)alamin (MeCbl) to homocysteine, yielding enzyme-bound cob(I)alamin and methionine in the cytosol (PubMed:16769880, PubMed:17288554, PubMed:27771510). MeCbl is an active form of cobalamin (vitamin B12) used as a cofactor for methionine biosynthesis. Cob(I)alamin form is regenerated to MeCbl by a transfer of a methyl group from 5-methyltetrahydrofolate (PubMed:16769880, PubMed:17288554, PubMed:27771510). The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine (PubMed:16769880, PubMed:27771510). {ECO:0000269|PubMed:16769880, ECO:0000269|PubMed:17288554, ECO:0000269|PubMed:27771510}.
uniprot
proteins
mass_dalton
140527
uniprot
proteins
mutagenesis
MUTAGEN 963; /note="D->E: Decreases binding to MTRR; when associated with N-1071."; /evidence="ECO:0000269|PubMed:17288554"; MUTAGEN 1071; /note="K->N: Decreases binding to MTRR; when associated with E-963."; /evidence="ECO:0000269|PubMed:17288554
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid biosynthesis; L-methionine biosynthesis via de novo pathway; L-methionine from L-homocysteine (MetH route): step 1/1. {ECO:0000269|PubMed:27771510}.
uniprot
proteins
protein_family
Vitamin-B12 dependent methionine synthase family
uniprot
proteins
pubmed
12375236
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15979034
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16769880
uniprot
proteins
pubmed
17288554
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
27771510
uniprot
proteins
pubmed
8968735
uniprot
proteins
pubmed
8968736
uniprot
proteins
pubmed
8968737
uniprot
proteins
pubmed
9013615
uniprot
proteins
sequence_length
1265
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:27771510}.
uniprot
proteins