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Gene id 4548
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol MTR   Gene   UCSC   Ensembl
Aliases HMAG, MS, cblG
Gene name 5-methyltetrahydrofolate-homocysteine methyltransferase
Alternate names methionine synthase, 5-methyltetrahydrofolate-homocysteine methyltransferase 1, cobalamin-dependent methionine synthase, vitamin-B12 dependent methionine synthase,
Gene location 1q43 (236794303: 236903980)     Exons: 33     NC_000001.11
Gene summary(Entrez) 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
OMIM 156570

SNPs
rs1805087

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.236885200A>G
NC_000001.10   g.237048500A>G
NG_008959.1   g.94920A>G
NM_000254.2   c.2756A>G
NM_001291940.2   c.1535A>G
NM_001291940.1   c.1535A>G
NM_001291939.1   c.2603A>G
XM_005273141.5   c.2753A>G
XM_005273141.1   c.2753A>G
XM_011544194.3   c.2924A>G

Protein Summary
Protein general information Q99707  

Name: Methionine synthase (EC 2.1.1.13) (5 methyltetrahydrofolate homocysteine methyltransferase) (Vitamin B12 dependent methionine synthase) (MS)

Length: 1265  Mass: 140,527

Sequence MSPALQDLSQPEGLKKTLRDEINAILQKRIMVLDGGMGTMIQREKLNEEHFRGQEFKDHARPLKGNNDILSITQP
DVIYQIHKEYLLAGADIIETNTFSSTSIAQADYGLEHLAYRMNMCSAGVARKAAEEVTLQTGIKRFVAGALGPTN
KTLSVSPSVERPDYRNITFDELVEAYQEQAKGLLDGGVDILLIETIFDTANAKAALFALQNLFEEKYAPRPIFIS
GTIVDKSGRTLSGQTGEGFVISVSHGEPLCIGLNCALGAAEMRPFIEIIGKCTTAYVLCYPNAGLPNTFGDYDET
PSMMAKHLKDFAMDGLVNIVGGCCGSTPDHIREIAEAVKNCKPRVPPATAFEGHMLLSGLEPFRIGPYTNFVNIG
ERCNVAGSRKFAKLIMAGNYEEALCVAKVQVEMGAQVLDVNMDDGMLDGPSAMTRFCNLIASEPDIAKVPLCIDS
SNFAVIEAGLKCCQGKCIVNSISLKEGEDDFLEKARKIKKYGAAMVVMAFDEEGQATETDTKIRVCTRAYHLLVK
KLGFNPNDIIFDPNILTIGTGMEEHNLYAINFIHATKVIKETLPGARISGGLSNLSFSFRGMEAIREAMHGVFLY
HAIKSGMDMGIVNAGNLPVYDDIHKELLQLCEDLIWNKDPEATEKLLRYAQTQGTGGKKVIQTDEWRNGPVEERL
EYALVKGIEKHIIEDTEEARLNQKKYPRPLNIIEGPLMNGMKIVGDLFGAGKMFLPQVIKSARVMKKAVGHLIPF
MEKEREETRVLNGTVEEEDPYQGTIVLATVKGDVHDIGKNIVGVVLGCNNFRVIDLGVMTPCDKILKAALDHKAD
IIGLSGLITPSLDEMIFVAKEMERLAIRIPLLIGGATTSKTHTAVKIAPRYSAPVIHVLDASKSVVVCSQLLDEN
LKDEYFEEIMEEYEDIRQDHYESLKERRYLPLSQARKSGFQMDWLSEPHPVKPTFIGTQVFEDYDLQKLVDYIDW
KPFFDVWQLRGKYPNRGFPKIFNDKTVGGEARKVYDDAHNMLNTLISQKKLRARGVVGFWPAQSIQDDIHLYAEA
AVPQAAEPIATFYGLRQQAEKDSASTEPYYCLSDFIAPLHSGIRDYLGLFAVACFGVEELSKAYEDDGDDYSSIM
VKALGDRLAEAFAEELHERVRRELWAYCGSEQLDVADLRRLRYKGIRPAPGYPSQPDHTEKLTMWRLADIEQSTG
IRLTESLAMAPASAVSGLYFSNLKSKYFAVGKISKDQVEDYALRKNISVAEVEKWLGPILGYDTD
Structural information
Protein Domains
 Hcy-binding. (19-338)
Pterin-binding. (371-632)
B12-binding (662-759)
B12-binding. (772-907)
Interpro:  IPR003759  IPR006158  IPR036724  IPR011005  IPR003726  
IPR036589  IPR033706  IPR011822  IPR036594  IPR000489  IPR004223  IPR037010  
Prosite:   PS50974 PS51332 PS51337 PS50970 PS50972
CDD:   cd02069

PDB:  		 2O2K 4CCZ
PDBsum:   2O2K 4CCZ

DIP:  
40306
STRING:   ENSP00000355536
Other Databases GeneCards:  MTR  Malacards:  MTR

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0000096 sulfur amino acid metabol
ic process
 TAS biological process
GO:0005515 protein binding
 IPI molecular function
GO:0005737 cytoplasm
 IDA cellular component
GO:0005829 cytosol
 IBA cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0007399 nervous system developmen
t
 TAS biological process
GO:0008270 zinc ion binding
 IEA molecular function
GO:0008705 methionine synthase activ
ity
 IDA molecular function
GO:0008705 methionine synthase activ
ity
 IMP molecular function
GO:0008898 S-adenosylmethionine-homo
cysteine S-methyltransfer
ase activity
 IEA molecular function
GO:0009086 methionine biosynthetic p
rocess
 IMP biological process
GO:0009235 cobalamin metabolic proce
ss
 IMP biological process
GO:0009235 cobalamin metabolic proce
ss
 TAS biological process
GO:0031103 axon regeneration
 ISS biological process
GO:0031419 cobalamin binding
 IEA molecular function
GO:0032259 methylation
 TAS biological process
GO:0042558 pteridine-containing comp
ound metabolic process
 IEA biological process
GO:0048678 response to axon injury
 ISS biological process
GO:0071732 cellular response to nitr
ic oxide
 ISS biological process
GO:0000096 sulfur amino acid metabol
ic process
 TAS biological process
GO:0005515 protein binding
 IPI molecular function
GO:0005622 intracellular
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005829 cytosol
 IBA cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0007399 nervous system developmen
t
 TAS biological process
GO:0008168 methyltransferase activit
y
 IEA molecular function
GO:0008270 zinc ion binding
 IEA molecular function
GO:0008652 cellular amino acid biosy
nthetic process
 IEA biological process
GO:0008705 methionine synthase activ
ity
 IEA molecular function
GO:0008705 methionine synthase activ
ity
 IEA molecular function
GO:0008705 methionine synthase activ
ity
 IEA molecular function
GO:0008705 methionine synthase activ
ity
 IDA molecular function
GO:0008705 methionine synthase activ
ity
 IMP molecular function
GO:0008898 S-adenosylmethionine-homo
cysteine S-methyltransfer
ase activity
 IEA molecular function
GO:0009086 methionine biosynthetic p
rocess
 IEA biological process
GO:0009086 methionine biosynthetic p
rocess
 IEA biological process
GO:0009086 methionine biosynthetic p
rocess
 IEA biological process
GO:0009086 methionine biosynthetic p
rocess
 IMP biological process
GO:0009235 cobalamin metabolic proce
ss
 IMP biological process
GO:0009235 cobalamin metabolic proce
ss
 TAS biological process
GO:0016740 transferase activity
 IEA molecular function
GO:0031103 axon regeneration
 IEA biological process
GO:0031103 axon regeneration
 ISS biological process
GO:0031419 cobalamin binding
 IEA molecular function
GO:0031419 cobalamin binding
 IEA molecular function
GO:0032259 methylation
 IEA biological process
GO:0032259 methylation
 TAS biological process
GO:0042558 pteridine-containing comp
ound metabolic process
 IEA biological process
GO:0044237 cellular metabolic proces
s
 IEA biological process
GO:0046872 metal ion binding
 IEA molecular function
GO:0046872 metal ion binding
 IEA molecular function
GO:0048678 response to axon injury
 IEA biological process
GO:0048678 response to axon injury
 ISS biological process
GO:0071732 cellular response to nitr
ic oxide
 IEA biological process
GO:0071732 cellular response to nitr
ic oxide
 ISS biological process
GO:0000096 sulfur amino acid metabol
ic process
 TAS biological process
GO:0005515 protein binding
 IPI molecular function
GO:0005737 cytoplasm
 IDA cellular component
GO:0005829 cytosol
 IBA cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0007399 nervous system developmen
t
 TAS biological process
GO:0008705 methionine synthase activ
ity
 IDA molecular function
GO:0008705 methionine synthase activ
ity
 IMP molecular function
GO:0009086 methionine biosynthetic p
rocess
 IMP biological process
GO:0009235 cobalamin metabolic proce
ss
 IMP biological process
GO:0009235 cobalamin metabolic proce
ss
 TAS biological process
GO:0031103 axon regeneration
 ISS biological process
GO:0032259 methylation
 TAS biological process
GO:0048678 response to axon injury
 ISS biological process
GO:0071732 cellular response to nitr
ic oxide
 ISS biological process

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa01100Metabolic pathways
hsa01230Biosynthesis of amino acids

Diseases

Expand All | Collapse All
Associated diseases References
Cancer (retinal) GAD: 20310006
Cancer (stomach) GAD: 17220339
Cancer GAD: 19936946
Cancer (Adenocarcinoma) GAD: 18351371
Cancer (Adenoma) GAD: 19124508
Cancer (bladder) GAD: 17311259
Cancer (brain) GAD: 17119065
Cancer (Central nervous system) GAD: 18406541
Cancer (cervical) GAD: 19760026
Cancer (colorectal) GAD: 14744749
Cancer (esophageal) GAD: 15790587
Cancer (head and neck) GAD: 20819778
Cancer (leukemia) GAD: 17454638
Cancer (lung) GAD: 17533396
Cancer (lymphoma) GAD: 15198953
Cancer (myeloma) GAD: 17546637
Cancer (non-Hodgkin lymphoma) GAD: 16365025
Cancer (pancreatic) GAD: 18843018
Cancer (prostate) GAD: 19064578
Cancer (Squamous cell) GAD: 20490431
Cancer (breast) GAD: 16328059
Aneurysm GAD: 18635682
Cardiovascular disease GAD: 11257268
Cerebrovascular disease GAD: 16894458
Myocardial Infarction GAD: 11257268
Hypertension GAD: 15148588
Apoplexy GAD: 20458436
Atherosclerosis GAD: 16268464
Intracranial aneurysm GAD: 18799873
Thrombosis GAD: 17160942
Venous thrombosis GAD: 18034637
Congenital abnormalities GAD: 18435414
Hyperhomocysteinemia GAD: 18427977
Spinal dysraphism GAD: 19161160
Spina bifida KEGG: H00262
Down syndrome GAD: 12923861
Homocystinuria OMIM: 156570
Cleft defects GAD: 16470748
Neural tube defects GAD: 12649067
Choroidal neovascularization GAD: 18378576
Exfoliation syndrome GAD: 19112534
Anemia GAD: 18023275
Neutropenia GAD: 19074750
Ulcerative colitis GAD: 18700049
Ulcerative colitis GAD: 18700049
Arthritis GAD: 18607581
Inflammatory bowel disease GAD: 20085490
Crohn's disease GAD: 17925002
Obesity GAD: 17993766
Hyperlipidemias GAD: 19263808
Folic acid deficiency GAD: 21125200
Bone diseases GAD: 19159907
Migraine disorder GAD: 19619240
Chronic progressive chorea GAD: 15354395
Stroke GAD: 18836720
Alzheimer's disease GAD: 19141999
Parkinson disease GAD: 19452554
Epilepsy GAD: 17904392
Psychological disorders GAD: 18801628
Autism GAD: 19440165
Bipolar disorder GAD: 19328558
Depression GAD: 18801628
Polycystic ovary syndrome (PCOS) GAD: 18281142
Preeclampsia GAD: 15866085
Oligoasthenozoospermia MIK: 25966116
Teratozoospermia MIK: 23117460
Primary infertility MIK: 25966116
Male factor infertility MIK: 21775772
Spermatogenesis defects MIK: 23117460
Oligozoospermia MIK: 25578539
Non obstructive azoospermia MIK: 25983623
Asthenozoospermia MIK: 23117460
Azoospermia MIK: 25966116
Embryo selection GAD: 18485163
Chronic obstructive pulmonary disease (COPD) GAD: 19625176
Adrenoleukodystrophy GAD: 19353223
Chronic renal failure GAD: 21085059
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Azoospermia MIK: 25966116
Oligoasthenozoospermia MIK: 25966116
Male infertility MIK: 25966116
Primary infertility MIK: 25966116
Oligoasthenoteratozoospermia MIK: 26549413
Non-obstructive male infertility MIK: 25983623
Spermatogenic defects MIK: 23117460
Oligozoospermia MIK: 23117460
Asthenozoospermia MIK: 23117460
Teratozoospermia MIK: 23117460

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26549413 Male infer
tility, az
oospermia,
oligoasth
enoteratoz
oospermia
 MTHFR C677T, MTHFR A1298C, MTR A2756G, MTRR A66G mutations and the MTHFR haplotype Asians,
Europe
ans, Am
ericans
, Afric
ans, mi
xed pop
ulation
.
Male infertility MTHFR
MTR
MTRR
 Show abstract
26196053 Non-obstru
ctive azoo
spermia (N
OA), Male
infertilit
y
 MTHFR c.677C > T (rs1801133), MTHFR c.1298A > C (rs1801131), MTR c.2756A > G (rs1805087), and MTRR c.66A > G (rs1801394) 
331 (85 inferti
le men with NOA
, 246 fertile m
en as controls)
 Male infertility MTHFR
MTR
MTRR
 Show abstract
25983623 Non-obstru
ctive male
infertili
ty
 MTHFR (677C > T; 1298A > C), MTR (2756A > G) and MTRR (66A > G) polymorphisms Polish
 636 (284 infert
ile men, 352 fe
rtile controls)
 Male infertility MTHFR
MTR
MTRR 
 Show abstract
25966116 Azoospermi
a, oligoas
thenozoosp
ermia, Mal
e infertil
ity, Prima
ry inferti
lity
 MTRR A66G, MTHFR C677T, A1298C, and MS A2756G
282 (162 infert
ile patients (1
00 azoospermia,
62 oligoasthen
ozoospermia), 1
20 fertile men
as controls )
 Male infertility MTRR
 MTHFR
MS
 Show abstract
25578539 Male infer
tility, az
oospermia,
oligozoos
permia
 MTHFR C677T and A1298C, MTR A2756G and MTRR A66G Chinese
 500 (296 idiopa
thic infertile
males with azoo
spermia or olig
ozoospermia, 20
4 fertile males
)
 Male infertility MTHFR
MTR
MTRR
 Show abstract
24268703 Idiopathic
male infe
rtility, a
zoospermia
 MTHFR C677T, MTHFR A1298C, MTR A2756G, MTRR A66G, SHMT1 C1420T, MTHFD1 G1958A, and CBS 844ins68 Russian
 624 (275 men wi
th idiopathic m
ale infertility
, 349 controls)
 Male infertility MTHFD1 G1958A
MTR A2756G
MTHFR C677T
 Show abstract
23117460 Spermatoge
nic defect
s, oligosp
ermia, ast
henospermi
a or terat
ospermia
 CT and TT genotypes of MTHFR C677T, MS A2756G Chinese
 147 (75 males w
ith oligospermi
a, asthenosperm
ia or teratospe
rmia, 72 fertil
e males)
 Male infertility MTHFR
MS
 Show abstract
21775772 Idiopathic
infertile
men
 MTHFR C677T, A1298C, and G1793A; MTRR A66G; and MTR A2756G polymorphisms Brazili
an
 306 (133 idiopa
thic infertile
Brazilian men w
ith nonobstruct
ive azoospermia
([NOA] n = 55)
or severe olig
ozoospermia ([S
O] n = 78) and
173 fertile men
as controls)
 Male infertility MTHFR
MTRR
MTR 
 Show abstract
16861746 Non-obstru
ctive male
infertili
ty
 MTHFR (C677T), MS (A2756G), MTRR (A66G)
685 (360 infert
ile patients (1
74 azoospermia,
186 oligoasthe
noteratozoosper
mia (OAT)), 325
controls)
 Male infertility MTHFR
MS
MTRR
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract