Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4548
Gene name Gene Name - the full gene name approved by the HGNC.
5-methyltetrahydrofolate-homocysteine methyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MTR
Synonyms (NCBI Gene) Gene synonyms aliases
HMAG, MS, cblG
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HMAG, MS
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q43
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1805087 A>G Benign, risk-factor, uncertain-significance Coding sequence variant, missense variant
rs116836001 C>G,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs121913578 C>T Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic Missense variant, coding sequence variant
rs121913580 C>T Pathogenic Stop gained, coding sequence variant
rs121913581 G>T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT047589 hsa-miR-10a-5p CLASH 23622248
MIRT044357 hsa-miR-106b-5p CLASH 23622248
MIRT042208 hsa-miR-484 CLASH 23622248
MIRT041354 hsa-miR-193b-3p CLASH 23622248
MIRT041354 hsa-miR-193b-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000096 Process Sulfur amino acid metabolic process TAS
GO:0005515 Function Protein binding IPI 17288554, 23825108, 27771510
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol IDA
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
156570 7468 ENSG00000116984
Protein
UniProt ID Q99707
Protein name Methionine synthase (MS) (EC 2.1.1.13) (5-methyltetrahydrofolate--homocysteine methyltransferase) (Cobalamin-dependent methionine synthase) (Vitamin-B12 dependent methionine synthase)
Protein 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 cobalami
PDB 2O2K , 4CCZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02574 S-methyl_trans 31 338 Homocysteine S-methyltransferase Family
PF00809 Pterin_bind 375 613 Pterin binding enzyme Domain
PF02607 B12-binding_2 671 748 B12 binding domain Domain
PF02310 B12-binding 773 874 B12 binding domain Domain
PF02965 Met_synt_B12 965 1246 Vitamin B12 dependent methionine synthase, activation domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed at the highest levels in pancreas, heart, brain, skeletal muscle and placenta (PubMed:8968735, PubMed:8968737). Expressed at lower levels in lung, liver and kidney (PubMed:8968735, PubMed:8968737). {ECO:0000
Sequence
MSPALQDLSQPEGLKKTLRDEINAILQKRIMVLDGGMGTMIQREKLNEEHFRGQEFKDHA
RPLKGNNDILSITQPDVIYQIHKEYLLAGADIIETNTFSSTSIAQADYGLEHLAYRMNMC
SAGVARKAAEEVTLQTGIKRFVAGALGPTNKTLSVSPSVERPDYRNITFDELVEAYQEQA
KGLLDGGVDILLIETIFDTANAKAALFALQNLFEEKYAPRPIFISGTIVDKSGRTLSGQT
GEGFVISVSHGEPLCIGLNCALGAAEMRPFIEIIGKCTTAYVLCYPNAGLPNTFGDYDET
PSMMAKHLKDFAMDGLVNIVGGCCGSTPDHIREIAEAV
KNCKPRVPPATAFEGHMLLSGL
EPFRIGPYTNFVNIGERCNVAGSRKFAKLIMAGNYEEALCVAKVQVEMGAQVLDVNMDDG
MLDGPSAMTRFCNLIASEPDIAKVPLCIDSSNFAVIEAGLKCCQGKCIVNSISLKEGEDD
FLEKARKIKKYGAAMVVMAFDEEGQATETDTKIRVCTRAYHLLVKKLGFNPNDIIFDPNI
LTIGTGMEEHNLYAINFIHATKVIKETLPGARISGGLSNLSFSFRGMEAIREAMHGVFLY
HAIKSGMDMGIVN
AGNLPVYDDIHKELLQLCEDLIWNKDPEATEKLLRYAQTQGTGGKKV
IQTDEWRNGPVEERLEYALVKGIEKHIIEDTEEARLNQKKYPRPLNIIEGPLMNGMKIVG
DLFGAGKMFLPQVIKSARVMKKAVGHLI
PFMEKEREETRVLNGTVEEEDPYQGTIVLATV
KGDVHDIGKNIVGVVLGCNNFRVIDLGVMTPCDKILKAALDHKADIIGLSGLITPSLDEM
IFVAKEMERLAIRIPLLIGGATTSKTHTAVKIAP
RYSAPVIHVLDASKSVVVCSQLLDEN
LKDEYFEEIMEEYEDIRQDHYESLKERRYLPLSQARKSGFQMDWLSEPHPVKPTFIGTQV
FEDYDLQKLVDYIDWKPFFDVWQLRGKYPNRGFPKIFNDKTVGGEARKVYDDAHNMLNTL
ISQKKLRARGVVGFWPAQSIQDDIHLYAEAAVPQAAEPIATFYGLRQQAEKDSASTEPYY
CLSDFIAPLHSGIRDYLGLFAVACFGVEELSKAYEDDGDDYSSIMVKALGDRLAEAFAEE
LHERVRRELWAYCGSEQLDVADLRRLRYKGIRPAPGYPSQPDHTEKLTMWRLADIEQSTG
IRLTESLAMAPASAVSGLYFSNLKSKYFAVGKISKDQVEDYALRKN
ISVAEVEKWLGPIL
GYDTD
Sequence length 1265
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cysteine and methionine metabolism
Selenocompound metabolism
One carbon pool by folate
Metabolic pathways
Biosynthesis of amino acids
Cobalamin transport and metabolism
Folate transport and metabolism
  Methylation
Sulfur amino acid metabolism
Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Megaloblastic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
17595805
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
17595805
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Mental depression Mental Depression, Depressive disorder, Severe depression 3425320, 18801628 ClinVar
Cleft Lip With Or Without Cleft Palate Cleft Lip With Or Without Cleft Palate GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 32894539
Adenoma Associate 31740010
Age Related Hearing Impairment 1 Associate 21385350
Alzheimer Disease Associate 15201366
Anemia Macrocytic Associate 25526710
Anemia Megaloblastic Associate 9501215
Anemia Neonatal Associate 3828532
Aortic Aneurysm Abdominal Associate 20871623
Aortic Dissection Associate 20871623
Attention Deficit Disorder with Hyperactivity Associate 23650422