KEGG   Homo sapiens (human): 4548
Entry
4548              CDS       T01001                                 
Symbol
MTR, HMAG, MS, cblG
Name
(RefSeq) 5-methyltetrahydrofolate-homocysteine methyltransferase
  KO
K00548  5-methyltetrahydrofolate--homocysteine methyltransferase [EC:2.1.1.13]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00270  Cysteine and methionine metabolism
hsa00450  Selenocompound metabolism
hsa00670  One carbon pool by folate
hsa01100  Metabolic pathways
hsa01230  Biosynthesis of amino acids
hsa04980  Cobalamin transport and metabolism
Network
nt06030  Methionine metabolism
nt06037  Histidine metabolism
nt06538  Cobalamin transport and metabolism
  Element
N01630  Remethylation, Hcy to Met
N01726  Folate cycle
N01812  Cobalamin loading and activation of MTR
Disease
H00183  Homocystinuria
H00262  Neural tube defects, folate-sensitive
H01285  Methylcobalamin deficiency type G
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00270 Cysteine and methionine metabolism
    4548 (MTR)
  09106 Metabolism of other amino acids
   00450 Selenocompound metabolism
    4548 (MTR)
  09108 Metabolism of cofactors and vitamins
   00670 One carbon pool by folate
    4548 (MTR)
 09150 Organismal Systems
  09154 Digestive system
   04980 Cobalamin transport and metabolism
    4548 (MTR)
Enzymes [BR:hsa01000]
 2. Transferases
  2.1  Transferring one-carbon groups
   2.1.1  Methyltransferases
    2.1.1.13  methionine synthase
     4548 (MTR)
SSDB
Motif
Pfam: Met_synt_B12 S-methyl_trans Pterin_bind B12-binding_2 B12-binding CdhD PA IPT
Other DBs
NCBI-GeneID: 4548
NCBI-ProteinID: NP_000245
OMIM: 156570
HGNC: 7468
Ensembl: ENSG00000116984
UniProt: Q99707
Structure
Position
1:236795281..236903981
AA seq 1265 aa
MSPALQDLSQPEGLKKTLRDEINAILQKRIMVLDGGMGTMIQREKLNEEHFRGQEFKDHA
RPLKGNNDILSITQPDVIYQIHKEYLLAGADIIETNTFSSTSIAQADYGLEHLAYRMNMC
SAGVARKAAEEVTLQTGIKRFVAGALGPTNKTLSVSPSVERPDYRNITFDELVEAYQEQA
KGLLDGGVDILLIETIFDTANAKAALFALQNLFEEKYAPRPIFISGTIVDKSGRTLSGQT
GEGFVISVSHGEPLCIGLNCALGAAEMRPFIEIIGKCTTAYVLCYPNAGLPNTFGDYDET
PSMMAKHLKDFAMDGLVNIVGGCCGSTPDHIREIAEAVKNCKPRVPPATAFEGHMLLSGL
EPFRIGPYTNFVNIGERCNVAGSRKFAKLIMAGNYEEALCVAKVQVEMGAQVLDVNMDDG
MLDGPSAMTRFCNLIASEPDIAKVPLCIDSSNFAVIEAGLKCCQGKCIVNSISLKEGEDD
FLEKARKIKKYGAAMVVMAFDEEGQATETDTKIRVCTRAYHLLVKKLGFNPNDIIFDPNI
LTIGTGMEEHNLYAINFIHATKVIKETLPGARISGGLSNLSFSFRGMEAIREAMHGVFLY
HAIKSGMDMGIVNAGNLPVYDDIHKELLQLCEDLIWNKDPEATEKLLRYAQTQGTGGKKV
IQTDEWRNGPVEERLEYALVKGIEKHIIEDTEEARLNQKKYPRPLNIIEGPLMNGMKIVG
DLFGAGKMFLPQVIKSARVMKKAVGHLIPFMEKEREETRVLNGTVEEEDPYQGTIVLATV
KGDVHDIGKNIVGVVLGCNNFRVIDLGVMTPCDKILKAALDHKADIIGLSGLITPSLDEM
IFVAKEMERLAIRIPLLIGGATTSKTHTAVKIAPRYSAPVIHVLDASKSVVVCSQLLDEN
LKDEYFEEIMEEYEDIRQDHYESLKERRYLPLSQARKSGFQMDWLSEPHPVKPTFIGTQV
FEDYDLQKLVDYIDWKPFFDVWQLRGKYPNRGFPKIFNDKTVGGEARKVYDDAHNMLNTL
ISQKKLRARGVVGFWPAQSIQDDIHLYAEAAVPQAAEPIATFYGLRQQAEKDSASTEPYY
CLSDFIAPLHSGIRDYLGLFAVACFGVEELSKAYEDDGDDYSSIMVKALGDRLAEAFAEE
LHERVRRELWAYCGSEQLDVADLRRLRYKGIRPAPGYPSQPDHTEKLTMWRLADIEQSTG
IRLTESLAMAPASAVSGLYFSNLKSKYFAVGKISKDQVEDYALRKNISVAEVEKWLGPIL
GYDTD
NT seq 3798 nt   +upstreamnt  +downstreamnt
atgtcacccgcgctccaagacctgtcgcaacccgaaggtctgaagaaaaccctgcgggat
gagatcaatgccattctgcagaagaggattatggtgctggatggagggatggggaccatg
atccagcgggagaagctaaacgaagaacacttccgaggtcaggaatttaaagatcatgcc
aggccgctgaaaggcaacaatgacattttaagtataactcagcctgatgtcatttaccaa
atccataaggaatacttgctggctggggcagatatcattgaaacaaatacttttagcagc
actagtattgcccaagctgactatggccttgaacacttggcctaccggatgaacatgtgc
tctgcaggagtggccagaaaagctgccgaggaggtaactctccagacaggaattaagagg
tttgtggcaggggctctgggtccgactaataagacactctctgtgtccccatctgtggaa
aggccggattataggaacatcacatttgatgagcttgttgaagcataccaagagcaggcc
aaaggacttctggatggcggggttgatatcttactcattgaaactatttttgatactgcc
aatgccaaggcagccttgtttgcactccaaaatctttttgaggagaaatatgctccccgg
cctatctttatttcagggacgatcgttgataaaagtgggcggactctttccggacagaca
ggagagggatttgtcatcagcgtgtctcatggagaaccactctgcattggattaaattgt
gctttgggtgcagctgaaatgagaccttttattgaaataattggaaaatgtacaacagcc
tatgtcctctgttatcccaatgcaggtcttcccaacacctttggtgactatgatgaaacg
ccttctatgatggccaagcacctaaaggattttgctatggatggcttggtcaatatagtt
ggaggatgctgtgggtcaacaccagatcatatcagggaaattgctgaagctgtgaaaaat
tgtaagcctagagttccacctgccactgcttttgaaggacatatgttactgtctggtcta
gagcccttcaggattggaccgtacaccaactttgttaacattggagagcgctgtaatgtt
gcaggatcaaggaagtttgctaaactcatcatggcaggaaactatgaagaagccttgtgt
gttgccaaagtgcaggtggaaatgggagcccaggtgttggatgtcaacatggatgatggc
atgctagatggtccaagtgcaatgaccagattttgcaacttaattgcttccgagccagac
atcgcaaaggtacctttgtgcatcgactcctccaattttgctgtgattgaagctgggtta
aagtgctgccaagggaagtgcattgtcaatagcattagtctgaaggaaggagaggacgac
ttcttggagaaggccaggaagattaaaaagtatggagctgctatggtggtcatggctttt
gatgaagaaggacaggcaacagaaacagacacaaaaatcagagtgtgcacccgggcctac
catctgcttgtgaaaaaactgggctttaatccaaatgacattatttttgaccctaatatc
ctaaccattgggactggaatggaggaacacaacttgtatgccattaattttatccatgca
acaaaagtcattaaagaaacattacctggagccagaataagtggaggtctttccaacttg
tccttctccttccgaggaatggaagccattcgagaagcaatgcatggggttttcctttac
catgcaatcaagtctggcatggacatggggatagtgaatgctggaaacctccctgtgtat
gatgatatccataaggaacttctgcagctctgtgaagatctcatctggaataaagaccct
gaggccactgagaagctcttacgttatgcccagactcaaggcacaggagggaagaaagtc
attcagactgatgagtggagaaatggccctgtcgaagaacgccttgagtatgcccttgtg
aagggcattgaaaaacatattattgaggatactgaggaagccaggttaaaccaaaaaaaa
tatccccgacctctcaatataattgaaggacccctgatgaatggaatgaaaattgttggt
gatctttttggagctggaaaaatgtttctacctcaggttataaagtcagcccgggttatg
aagaaggctgttggccaccttatccctttcatggaaaaagaaagagaagaaaccagagtg
cttaacggcacagtagaagaagaggacccttaccagggcaccatcgtgctggccactgtt
aaaggcgacgtgcacgacataggcaagaacatagttggagtagtccttggctgcaataat
ttccgagttattgatttaggagtcatgactccatgtgataagatactgaaagctgctctt
gaccacaaagcagatataattggcctgtcaggactcatcactccttccctggatgaaatg
atttttgttgccaaggaaatggagagattagctataaggattccattgttgattggagga
gcaaccacttcaaaaacccacacagcagttaaaatagctccgagatacagtgcacctgta
atccatgtcctggacgcgtccaagagtgtggtggtgtgttcccagctgttagatgaaaat
ctaaaggatgaatactttgaggaaatcatggaagaatatgaagatattagacaggaccat
tatgagtctctcaaggagaggagatacttacccttaagtcaagccagaaaaagtggtttc
caaatggattggctgtctgaacctcacccagtgaagcccacgtttattgggacccaggtc
tttgaagactatgacctgcagaagctggtggactacattgactggaagcctttctttgat
gtctggcagctccggggcaagtacccgaatcgaggctttcccaagatatttaacgacaaa
acagtaggtggagaggccaggaaggtctacgatgatgcccacaatatgctgaacacactg
attagtcaaaagaaactccgggcccggggtgtggttgggttctggccagcacagagtatc
caagacgacattcacctgtacgcagaggctgctgtgccccaggctgcagagcccatagcc
accttctatgggttaaggcaacaggctgagaaggactctgccagcacggagccatactac
tgcctctcagacttcatcgctcccttgcattctggcatccgtgactacctgggcctgttt
gccgttgcctgctttggggtagaagagctgagcaaggcctatgaggatgatggtgacgac
tacagcagcatcatggtcaaggcgctgggggaccggctggcagaggcctttgcagaagag
ctccatgaaagagttcgccgagaactgtgggcctactgtggcagtgagcagctggacgtc
gcagacctgcgcaggctgcggtacaagggcatccgcccggctcctggctaccccagccag
cccgaccacaccgagaagctcaccatgtggagactcgcagacatcgagcagtctacaggc
attaggttaacagaatcattagcaatggcacctgcttcagcagtctcaggcctctacttc
tccaatttgaagtccaaatattttgctgtggggaagatttccaaggatcaggttgaggat
tatgcattgaggaagaacatatctgtggctgaggttgagaaatggcttggacccattttg
ggatatgatacagactaa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (7)   
   KEGG PATHWAY (6)   
   KEGG MODULE (1)   
Network (6)   
   KEGG NETWORK (6)   
Disease (6)   
   KEGG DISEASE (3)   
   OMIM (3)   
Chemical substance (8)   
   KEGG COMPOUND (8)   
Chemical reaction (3)   
   KEGG ENZYME (1)   
   KEGG REACTION (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (24)   
   KEGG ORTHOLOGY (1)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (10)   
   OC (1)   
Protein sequence (24)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (22)   
DNA sequence (62)   
   RefSeq(nuc) (22)   
   GenBank (20)   
   EMBL (20)   
3D Structure (2)   
   PDB (2)   
Protein domain (8)   
   Pfam (8)   
All databases (153)   

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