KEGG T01001: 4548

Homo sapiens (human): 4548

Entry

4548 CDS T01001

Gene name

MTR, MS, cblG

Definition

5-methyltetrahydrofolate-homocysteine methyltransferase (EC:2.1.1.13)

Orthology

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

Disease

H00262	Spina bifida
H01285	Methylcobalamin deficiency type G (cblG)

Class

Metabolism; Amino acid metabolism; Cysteine and methionine metabolism [PATH:hsa00270]
Metabolism; Metabolism of other amino acids; Selenocompound metabolism [PATH:hsa00450]
Metabolism; Metabolism of cofactors and vitamins; One carbon pool by folate [PATH:hsa00670]

SSDB

Motif

Pfam:

S-methyl_trans Met_synt_B12 Pterin_bind B12-binding_2 B12-binding CdhD IPT

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

2O2K

Position

1q43

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 (1)   
   KEGG BRITE (1)   
Pathway (5)   
   KEGG PATHWAY (5)   
Disease (7)   
   KEGG DISEASE (2)   
   OMIM (5)   
Chemical substance (8)   
   KEGG COMPOUND (8)   
Chemical reaction (3)   
   KEGG ENZYME (1)   
   KEGG REACTION (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (19)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (11)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (2)   
   UniProt (1)   
   RefSeq(pep) (1)   
DNA sequence (39)   
   RefSeq(nuc) (1)   
   GenBank (19)   
   EMBL (19)   
3D Structure (1)   
   PDB (1)   
Protein domain (7)   
   Pfam (7)   
All databases (93)   

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