MTRR
entrez
4552
canonical
uniprot
Q9UBK8
canonical
ensembl
ENSG00000124275
resolver
ensp
ENSP00000402510
resolver
ensp
ENSP00000421991
resolver
ensp
ENSP00000539989
resolver
ensp
ENSP00000594381
resolver
ensp
ENSP00000611670
resolver
ensp
ENSP00000743315
resolver
genesymbol
MTRR
resolver
hgnc
HGNC:7473
resolver
uniprot
O60471
resolver
uniprot
Q32MA9
resolver
uniprot
Q7Z4M8
resolver
uniprot_entry
MTRR_HUMAN
resolver
uniprot_sec
O60471
resolver
uniprot_sec
Q32MA9
resolver
uniprot_sec
Q7Z4M8
resolver
amino_acid_sequence
MRRFLLLYATQQGQAKAIAEEICEQAVVHGFSADLHCISESDKYDLKTETAPLVVVVSTTGTGDPPDTARKFVKEIQNQTLPVDFFAHLRYGLLGLGDSEYTYFCNGGKIIDKRLQELGARHFYDTGHADDCVGLELVVEPWIAGLWPALRKHFRSSRGQEEISGALPVASPASSRTDLVKSELLHIESQVELLRFDDSGRKDSEVLKQNAVNSNQSNVVIEDFESSLTRSVPPLSQASLNIPGLPPEYLQVHLQESLGQEESQVSVTSADPVFQVPISKAVQLTTNDAIKTTLLVELDISNTDFSYQPGDAFSVICPNSDSEVQSLLQRLQLEDKREHCVLLKIKADTKKKGATLPQHIPAGCSLQFIFTWCLEIRAIPKKAFLRALVDYTSDSAEKRRLQELCSKQGAADYSRFVRDACACLLDLLLAFPSCQPPLSLLLEHLPKLQPRPYSCASSSLFHPGKLHFVFNIVEFLSTATTEVLRKGVCTGWLALLVASVLQPNIHASHEDSGKALAPKISISPRTTNSFHLPDDPSIPIIMVGPGTGIAPFIGFLQHREKLQEQHPDGNFGAMWLFFGCRHKDRDYLFRKELRHFLKHGILTHLKVSFSRDAPVGEEEAPAKYVQDNIQLHGQQVARILLQENGHIYVCGDAKNMAKDVHDALVQIISKEVGVEKLEAMKTLATLKEEKRYLQDIWS
uniprot
proteins
disease_involvement
DISEASE: Homocystinuria-megaloblastic anemia, cblE type (HMAE) [MIM:236270]: 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. Cells from patients with HMAE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent. {ECO:0000269|PubMed:10484769, ECO:0000269|PubMed:9501215}. 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:10444342, ECO:0000269|PubMed:12375236}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.16.1.8
uniprot
proteins
function
FUNCTION: Key enzyme in methionine and folate homeostasis responsible for the reactivation of methionine synthase (MTR/MS) activity by catalyzing the reductive methylation of MTR-bound cob(II)alamin (PubMed:17892308). Cobalamin (vitamin B12) forms a complex with MTR to serve as an intermediary in methyl transfer reactions that cycles between MTR-bound methylcob(III)alamin and MTR bound-cob(I)alamin forms, and occasional oxidative escape of the cob(I)alamin intermediate during the catalytic cycle leads to the inactive cob(II)alamin species (Probable). The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR and MTR which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine (PubMed:27771510). Also necessary for the utilization of methyl groups from the folate cycle, thereby affecting transgenerational epigenetic inheritance (By similarity). Also acts as a molecular chaperone for methionine synthase by stabilizing apoMTR and incorporating methylcob(III)alamin into apoMTR to form the holoenzyme (PubMed:16769880). Also serves as an aquacob(III)alamin reductase by reducing aquacob(III)alamin to cob(II)alamin; this reduction leads to stimulation of the conversion of apoMTR and aquacob(III)alamin to MTR holoenzyme (PubMed:16769880). {ECO:0000250|UniProtKB:Q8C1A3, ECO:0000269|PubMed:16769880, ECO:0000269|PubMed:17892308, ECO:0000269|PubMed:27771510, ECO:0000305|PubMed:19243433}.
uniprot
proteins
mass_dalton
77674
uniprot
proteins
pubmed
10444342
uniprot
proteins
pubmed
10484769
uniprot
proteins
pubmed
10564814
uniprot
proteins
pubmed
12375236
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15979034
uniprot
proteins
pubmed
16769880
uniprot
proteins
pubmed
17892308
uniprot
proteins
pubmed
18221906
uniprot
proteins
pubmed
19243433
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27771510
uniprot
proteins
pubmed
9501215
uniprot
proteins
sequence_length
698
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform B]: Cytoplasm.; SUBCELLULAR LOCATION: [Isoform A]: Cytoplasm {ECO:0000269|PubMed:18221906}.
uniprot
proteins