| Tag | Content |
|---|---|
| Uniprot ID | A6H5Y3; Q3UQP2; |
| Entrez ID | 238505 |
| Genbank protein ID | AAI45686.1; AAI45684.1; BAE24997.1; |
| Genbank nucleotide ID | NM_001081128.3 |
| Ensembl protein ID | ENSMUSP00000097442 |
| Ensembl nucleotide ID | ENSMUSG00000021311 |
| Gene name | Methionine synthase |
| Gene symbol | Mtr |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | 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. 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. 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. |
| Sequence | MKKTLQDEIE AILRKRIMVL DGGMGTMIQR YKLSEEHFQG QEFKDHSRPL KGNNDILSIT 60 QPDIIYQIHK EYLLAGADII ETNTFSSTSI AQADYGLEHL AYRMNKCSAD VARKAAEEIT 120 LQTGVKRFVA GALGPTNKTL SVSPSVERPD YRNITFDELV DAYQEQAKGL LDGRVDILLI 180 ETIFDTANAK AALFAIQNLF EENYAPPRPI FISGTIVDKS GRTLSGQTGE AFVTSVSHSD 240 PLCIGLNCSL GAAEMRPFIE TIGKCTTAYV LCYPNAGLPN TFGDYDETPS TMATHLKDFA 300 VDGLVNIVGG CCGSTPDHIR EIAEAVKKCK PRVPPASVFE GHMLLSGLEP FRIGPYTNFV 360 NIGERCNVAG SRKFAKLIMA GNYEEALSIA KAQVEMGAQV LDINMDDGML DGPSAMTRFC 420 NSIASEPDIA KVPLCIDSSN FAVIEAGLKC CQGKCIVNSI SLKEGEGDFL EKARKIKKFG 480 AAVVVMAFDE EGQATETDVK VNVCTRAYHL LVDKVGFNPN DIIFDPNILT IGTGMEEHNL 540 YAINFIHATR VIKETLPGVR ISGGLSNLSF SFRGMEAIRE AMHGVFLYHA IKFGMDMGIV 600 NAGNLPVYDA IHKDLLQLCE DLIWNKDSEA TEKLLRYAQT HGTGGKKVIQ TDEWRNGSIE 660 ERLEYALVKG IEKHIVEDTE EARLNGEKYP RPLNIIEGPL MNGMKVVGDL FGAGKMFLPQ 720 VIKSARVMKK AVGHLIPFME KEREEARLIN GSVEEEDPYQ GTIVLATVKG DVHDIGKNIV 780 GVVLACNNFR VIDLGVMTPC DKILQAALDH KADIIGLSGL ITPSLDEMIF VAKEMERLAI 840 KIPLLIGGAT TSRTHTAVKI APRYSAPVIH VLDASKSVVV CSQLLDENLR DDYFEEILEE 900 YEDIRQDHYE SLKERKYVPL SQARKHGFHI DWLSEPHPVK PTFIGTQVFE DYNLQKLVDY 960 IDWKPFFDVW QLRGKYPNRG FPKIFNDKAV GEEARKVYND AQNMLNILIS QKKLQARGVV 1020 GFWPAQSVQD DIHLYAEGVV PQAAEPIATF YGLRQQAEKD SSSTDPYHCL SDFIAPLHSG 1080 VCDYLGLFAV ACFGVEELSK TYEDDGDDYS SIMVKALGDR LAEAFAEELH ERVRRELWAY 1140 SRSEQLGVPD LRRLRYEGIR PAPGYPSQPD HTEKLTMWRL ASIEQATGIR LTESLAMAPA 1200 SAVSGLYFSN VKAKYFAVGK ISKDQTEDYA LRKNMPVAEV EKWLGPILGY DTD 1253 |
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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | MTR | A0A3Q1M346 | Bos taurus | Prediction | More>> | |||
| 1:1 ortholog | MTR | 102172599 | A0A452DLF5 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | MTR | 4548 | Q99707 | Homo sapiens | Publication | More>> | ||
| 1:1 ortholog | Mtr | 238505 | A6H5Y3 | Mus musculus | Prediction | More>> | ||
| 1:1 ortholog | MTR | 457844 | A0A2I3TRS7 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | A0A480IS22 | Sus scrofa | Prediction | More>> | ||||
| 1:1 ortholog | Mtr | G3V8A4 | Rattus norvegicus | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| MTR | c.2756A>G; p.Asp919Gly | PCR-RFLP | 16712703 |
| MTR | rs1805087; c.2756A>G | PCR-RFLP | 27167580 |
| MTR | rs10925239 (protective) | Global screening array | 32492698 |
| MTR | rs10925254 (protective) | Global screening array | 32492698 |
| MTR | rs3768142 (protective) | Global screening array | 32492698 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005542 | folic acid binding | ISO |
| GO:0008168 | methyltransferase activity | ISO |
| GO:0008270 | zinc ion binding | IEA |
| GO:0008705 | methionine synthase activity | ISO |
| GO:0008705 | methionine synthase activity | IMP |
| GO:0008705 | methionine synthase activity | IBA |
| GO:0016597 | amino acid binding | ISO |
| GO:0031419 | cobalamin binding | IEA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0006479 | protein methylation | ISO |
| GO:0006555 | methionine metabolic process | ISO |
| GO:0009086 | methionine biosynthetic process | ISO |
| GO:0009086 | methionine biosynthetic process | IMP |
| GO:0009235 | cobalamin metabolic process | ISO |
| GO:0031103 | axon regeneration | ISO |
| GO:0046653 | tetrahydrofolate metabolic process | ISO |
| GO:0048678 | response to axon injury | ISO |
| GO:0050667 | homocysteine metabolic process | ISO |
| GO:0071732 | cellular response to nitric oxide | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005829 | cytosol | ISO |
| GO:0005829 | cytosol | IBA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-1430728 | Metabolism | IEA |
| R-MMU-156580 | Phase II - Conjugation of compounds | IEA |
| R-MMU-156581 | Methylation | IEA |
| R-MMU-1614635 | Sulfur amino acid metabolism | IEA |
| R-MMU-196741 | Cobalamin (Cbl, vitamin B12) transport and metabolism | IEA |
| R-MMU-196849 | Metabolism of water-soluble vitamins and cofactors | IEA |
| R-MMU-196854 | Metabolism of vitamins and cofactors | IEA |
| R-MMU-211859 | Biological oxidations | IEA |
| R-MMU-71291 | Metabolism of amino acids and derivatives | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0028 | Amino-acid biosynthesis |
| KW-0846 | Cobalamin |
| KW-0170 | Cobalt |
| KW-0963 | Cytoplasm |
| KW-0479 | Metal-binding |
| KW-0486 | Methionine biosynthesis |
| KW-0489 | Methyltransferase |
| KW-0597 | Phosphoprotein |
| KW-1185 | Reference proteome |
| KW-0677 | Repeat |
| KW-0949 | S-adenosyl-L-methionine |
| KW-0808 | Transferase |
| KW-0862 | Zinc |
| InterPro ID | InterPro Term |
|---|---|
| IPR003759 | Cbl-bd_cap |
| IPR006158 | Cobalamin-bd |
| IPR036724 | Cobalamin-bd_sf |
| IPR011005 | Dihydropteroate_synth-like |
| IPR003726 | HCY_dom |
| IPR036589 | HCY_dom_sf |
| IPR033706 | Met_synthase_B12-bd |
| IPR011822 | MetH |
| IPR036594 | Meth_synthase_dom |
| IPR000489 | Pterin-binding_dom |
| IPR004223 | VitB12-dep_Met_synth_activ_dom |
| IPR037010 | VitB12-dep_Met_synth_activ_sf |