Home
Search

Simple

Advanced

Syndromes

Chromosomal defects

Infertility phenotypes

Highthroughput dataset
Browse

Genes

Proteins

SNPs

References

GO

Diseases

Pathways

Tools

Orthologs

SNPs

Motif scan

STRING

CDART
BLAST

BLASTN

BLASTP
Analysis

Panther

Function

GO

Pathways

Diseases
  Help
Statistics
   About Us

Search Result


Gene id 4552
Gene Summary     SNPs    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary
Gene Symbol MTRR   Gene   UCSC   Ensembl
Aliases MSR, cblE
Gene name 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Alternate names methionine synthase reductase, [methionine synthase]-cobalamin methyltransferase (cob(II)alamin reducing), methionine synthase reductase, mitochondrial,
Gene location 5p15.31 (7851185: 7901123)     Exons: 21     NC_000005.10
Gene summary(Entrez) This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires me
OMIM 602568

SNPs
rs1801394

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

NC_000005.10   g.7870860A>G
NC_000005.9   g.7870973A>G
NG_008856.1   g.6757A>G
NM_024010.4   c.66A>G
NM_024010.3   c.66A>G
NM_024010.2   c.147A>G
NM_002454.3   c.66A>G
NM_002454.2   c.66A>G
NM_001364440.2   c.66A>G
NM_001364440.1   c.66A>G
NM_001364441.2   c.66A>G
NM_0013  

rs161870

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

NC_000005.10   g.7878079T>C
NC_000005.10   g.7878079T>G
NC_000005.9   g.7878192T>C
NC_000005.9   g.7878192T>G
NG_008856.1   g.13976T>C
NG_008856.1   g.13976T>G
NM_024010.4   c.537T>C
NM_024010.4   c.537T>G
NM_024010.3   c.537T>C
NM_024010.3   c.537T>G
NM_024010.2   c.618T

rs162036

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

NC_000005.10   g.7885846A>G
NC_000005.9   g.7885959A>G
NG_008856.1   g.21743A>G
NM_024010.4   c.1049A>G
NM_024010.3   c.1049A>G
NM_024010.2   c.1130A>G
NM_002454.3   c.1049A>G
NM_002454.2   c.1049A>G
NM_001364440.2   c.1049A>G
NM_001364440.1   c.1049A>G
NM_001364441.2   c

Protein Summary
Protein general information Q9UBK8  

Name: Methionine synthase reductase (MSR) (EC 1.16.1.8)

Length: 725  Mass: 80,410

Sequence MGAASVRAGARLVEVALCSFTVTCLEVMRRFLLLYATQQGQAKAIAEEICEQAVVHGFSADLHCISESDKYDLKT
ETAPLVVVVSTTGTGDPPDTARKFVKEIQNQTLPVDFFAHLRYGLLGLGDSEYTYFCNGGKIIDKRLQELGARHF
YDTGHADDCVGLELVVEPWIAGLWPALRKHFRSSRGQEEISGALPVASPASSRTDLVKSELLHIESQVELLRFDD
SGRKDSEVLKQNAVNSNQSNVVIEDFESSLTRSVPPLSQASLNIPGLPPEYLQVHLQESLGQEESQVSVTSADPV
FQVPISKAVQLTTNDAIKTTLLVELDISNTDFSYQPGDAFSVICPNSDSEVQSLLQRLQLEDKREHCVLLKIKAD
TKKKGATLPQHIPAGCSLQFIFTWCLEIRAIPKKAFLRALVDYTSDSAEKRRLQELCSKQGAADYSRFVRDACAC
LLDLLLAFPSCQPPLSLLLEHLPKLQPRPYSCASSSLFHPGKLHFVFNIVEFLSTATTEVLRKGVCTGWLALLVA
SVLQPNIHASHEDSGKALAPKISISPRTTNSFHLPDDPSIPIIMVGPGTGIAPFIGFLQHREKLQEQHPDGNFGA
MWLFFGCRHKDRDYLFRKELRHFLKHGILTHLKVSFSRDAPVGEEEAPAKYVQDNIQLHGQQVARILLQENGHIY
VCGDAKNMAKDVHDALVQIISKEVGVEKLEAMKTLATLKEEKRYLQDIWS
Structural information
Protein Domains
 Flavodoxin-like. (32-174)
FAD-binding (298-560)
Interpro:  IPR003097  IPR017927  IPR001094  IPR008254  IPR001709  
IPR029039  IPR023173  IPR001433  IPR017938  
Prosite:   PS51384 PS50902

PDB:  		 2QTL 2QTZ
PDBsum:   2QTL 2QTZ

DIP:  
61183
STRING:   ENSP00000264668
Other Databases GeneCards:  MTRR  Malacards:  MTRR

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0000096 sulfur amino acid metabol
ic process
 TAS biological process
GO:0003958 NADPH-hemoprotein reducta
se activity
 IDA molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005654 nucleoplasm
 IDA cellular component
GO:0005737 cytoplasm
 IDA 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:0005829 cytosol
 TAS cellular component
GO:0006306 DNA methylation
 ISS biological process
GO:0006555 methionine metabolic proc
ess
 TAS biological process
GO:0009086 methionine biosynthetic p
rocess
 IDA biological process
GO:0009235 cobalamin metabolic proce
ss
 TAS biological process
GO:0010181 FMN binding
 IDA molecular function
GO:0010181 FMN binding
 TAS molecular function
GO:0016723 oxidoreductase activity,
oxidizing metal ions, NAD
or NADP as acceptor
 IDA molecular function
GO:0030586 [methionine synthase] red
uctase activity
 IDA molecular function
GO:0030586 [methionine synthase] red
uctase activity
 TAS molecular function
GO:0030586 [methionine synthase] red
uctase activity
 TAS molecular function
GO:0032259 methylation
 TAS biological process
GO:0033353 S-adenosylmethionine cycl
e
 ISS biological process
GO:0043418 homocysteine catabolic pr
ocess
 IDA biological process
GO:0045111 intermediate filament cyt
oskeleton
 IDA cellular component
GO:0046655 folic acid metabolic proc
ess
 ISS biological process
GO:0046655 folic acid metabolic proc
ess
 IDA biological process
GO:0050444 aquacobalamin reductase (
NADPH) activity
 IDA molecular function
GO:0050660 flavin adenine dinucleoti
de binding
 IDA molecular function
GO:0050660 flavin adenine dinucleoti
de binding
 TAS molecular function
GO:0050661 NADP binding
 TAS molecular function
GO:0055114 oxidation-reduction proce
ss
 TAS biological process
GO:0070402 NADPH binding
 IDA molecular function
GO:0071949 FAD binding
 IDA molecular function
GO:1904042 negative regulation of cy
stathionine beta-synthase
activity
 IDA biological process
GO:0000096 sulfur amino acid metabol
ic process
 TAS biological process
GO:0003958 NADPH-hemoprotein reducta
se activity
 IDA molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005654 nucleoplasm
 IDA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005737 cytoplasm
 IDA 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:0005829 cytosol
 TAS cellular component
GO:0006306 DNA methylation
 ISS biological process
GO:0006555 methionine metabolic proc
ess
 TAS biological process
GO:0008652 cellular amino acid biosy
nthetic process
 IEA biological process
GO:0009086 methionine biosynthetic p
rocess
 IEA biological process
GO:0009086 methionine biosynthetic p
rocess
 IDA biological process
GO:0009235 cobalamin metabolic proce
ss
 TAS biological process
GO:0010181 FMN binding
 IEA molecular function
GO:0010181 FMN binding
 IDA molecular function
GO:0010181 FMN binding
 TAS molecular function
GO:0016491 oxidoreductase activity
 IEA molecular function
GO:0016491 oxidoreductase activity
 IEA molecular function
GO:0016723 oxidoreductase activity,
oxidizing metal ions, NAD
or NADP as acceptor
 IDA molecular function
GO:0030586 [methionine synthase] red
uctase activity
 IEA molecular function
GO:0030586 [methionine synthase] red
uctase activity
 IDA molecular function
GO:0030586 [methionine synthase] red
uctase activity
 TAS molecular function
GO:0030586 [methionine synthase] red
uctase activity
 TAS molecular function
GO:0032259 methylation
 TAS biological process
GO:0033353 S-adenosylmethionine cycl
e
 ISS biological process
GO:0043418 homocysteine catabolic pr
ocess
 IDA biological process
GO:0045111 intermediate filament cyt
oskeleton
 IDA cellular component
GO:0046655 folic acid metabolic proc
ess
 ISS biological process
GO:0046655 folic acid metabolic proc
ess
 IDA biological process
GO:0050444 aquacobalamin reductase (
NADPH) activity
 IDA molecular function
GO:0050660 flavin adenine dinucleoti
de binding
 IDA molecular function
GO:0050660 flavin adenine dinucleoti
de binding
 TAS molecular function
GO:0050661 NADP binding
 TAS molecular function
GO:0055114 oxidation-reduction proce
ss
 IEA biological process
GO:0055114 oxidation-reduction proce
ss
 IEA biological process
GO:0055114 oxidation-reduction proce
ss
 TAS biological process
GO:0070402 NADPH binding
 IDA molecular function
GO:0071949 FAD binding
 IDA molecular function
GO:1904042 negative regulation of cy
stathionine beta-synthase
activity
 IDA biological process
GO:0000096 sulfur amino acid metabol
ic process
 TAS biological process
GO:0003958 NADPH-hemoprotein reducta
se activity
 IDA molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005654 nucleoplasm
 IDA cellular component
GO:0005737 cytoplasm
 IDA 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:0005829 cytosol
 TAS cellular component
GO:0006306 DNA methylation
 ISS biological process
GO:0006555 methionine metabolic proc
ess
 TAS biological process
GO:0009086 methionine biosynthetic p
rocess
 IDA biological process
GO:0009235 cobalamin metabolic proce
ss
 TAS biological process
GO:0010181 FMN binding
 IDA molecular function
GO:0010181 FMN binding
 TAS molecular function
GO:0016723 oxidoreductase activity,
oxidizing metal ions, NAD
or NADP as acceptor
 IDA molecular function
GO:0030586 [methionine synthase] red
uctase activity
 IDA molecular function
GO:0030586 [methionine synthase] red
uctase activity
 TAS molecular function
GO:0030586 [methionine synthase] red
uctase activity
 TAS molecular function
GO:0032259 methylation
 TAS biological process
GO:0033353 S-adenosylmethionine cycl
e
 ISS biological process
GO:0043418 homocysteine catabolic pr
ocess
 IDA biological process
GO:0045111 intermediate filament cyt
oskeleton
 IDA cellular component
GO:0046655 folic acid metabolic proc
ess
 ISS biological process
GO:0046655 folic acid metabolic proc
ess
 IDA biological process
GO:0050444 aquacobalamin reductase (
NADPH) activity
 IDA molecular function
GO:0050660 flavin adenine dinucleoti
de binding
 IDA molecular function
GO:0050660 flavin adenine dinucleoti
de binding
 TAS molecular function
GO:0050661 NADP binding
 TAS molecular function
GO:0055114 oxidation-reduction proce
ss
 TAS biological process
GO:0070402 NADPH binding
 IDA molecular function
GO:0071949 FAD binding
 IDA molecular function
GO:1904042 negative regulation of cy
stathionine beta-synthase
activity
 IDA biological process

Diseases

Expand All | Collapse All
Associated diseases References
Cancer (Adenocarcinoma) GAD: 20056620
Cancer (bladder) GAD: 17311259
Cancer (brain) GAD: 18483342
Cancer (cervical) GAD: 19760026
Cancer (colorectal) GAD: 12020105
Cancer (esophageal) GAD: 20453000
Cancer (gastric) GAD: 14652285
Cancer (head and neck) GAD: 17596206
Cancer (Hematologic) GAD: 18774170
Cancer (Hepatocellular) GAD: 19035314
Cancer (leukemia) GAD: 17136115
Cancer (lung) GAD: 14716779
Cancer (lymphoma) GAD: 18830263
Cancer (melanoma) GAD: 18792976
Cancer (myeloma) GAD: 17546637
Cancer (Pancreatic ductal) GAD: 18515090
Cancer (pancreatic) GAD: 18843018
Cancer (prostate) GAD: 19064571
Cancer (Squamous cell) GAD: 15894670
Cancer (stomach) GAD: 17220339
Cancer (breast) GAD: 17311260
Aneurysm GAD: 18635682
Apoplexy GAD: 20458436
Atherosclerosis GAD: 16268464
Cerebrovascular disease GAD: 16894458
Cardiovascular disease GAD: 14632302
Hypertension GAD: 19776634
Thromboembolism GAD: 11806787
Vascular disease GAD: 19348062
Venous thrombosis GAD: 18034637
Congenital abnormalities GAD: 18435414
Hyperhomocysteinemia GAD: 18427977
Spinal dysraphism GAD: 19161160
Spinal dysraphism GAD: 19161160
Spina bifida KEGG: H00262
Down syndrome KEGG: H01552
Homocystinuria KEGG: H00183
Cleft defects GAD: 16470748
Neural tube defects GAD: 15979034
Crohn's disease GAD: 17925002
Choroidal neovascularization GAD: 18378576
Exfoliation syndrome GAD: 19112534
Anemia GAD: 18023275
Arthritis GAD: 18607581
Ulcerative colitis GAD: 18700049
Ulcerative colitis GAD: 18700049
Inflammatory bowel disease GAD: 20085490
Multiple sclerosis GAD: 17113603
Diabetes GAD: 18774994
Obesity GAD: 17993766
Folic acid deficiency GAD: 21125200
Chronic progressive chorea GAD: 15354395
Stroke GAD: 18836720
Parkinson disease GAD: 21070756
Epilepsy GAD: 17904392
Autism GAD: 19440165
Placenta diseases GAD: 17376725
Placenta diseases GAD: 17376725
Spermatogenesis defects GAD: 19657388
Preeclampsia GAD: 15866085
Oligoasthenoteratozoospermia MIK: 26549413
Male factor infertility MIK: 25966116
Oligoasthenozoospermia MIK: 25966116
Primary infertility MIK: 25966116
Male factor infertility MIK: 21775772
Unexplained azoospermia MIK: 19657388
Non obstructive azoospermia MIK: 26196053
Azoospermia MIK: 25966116
Embryo selection GAD: 18485163
Chronic obstructive pulmonary disease (COPD) GAD: 19625176
Adrenoleukodystrophy GAD: 19353223
Late-onset vascular disease GAD: 9974410
Chronic renal failure GAD: 21085059
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Azoospermia MIK: 25966116
Oligoasthenozoospermia MIK: 25966116
Primary infertility MIK: 25966116
Male infertility MIK: 21775772
Oligoasthenoteratozoospermia MIK: 26549413
Male infertility MIK: 24334125
Azoospermia MIK: 24334125
Oligozoospermia MIK: 24334125
Non-obstructive azoospermia (NOA) MIK: 26196053

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
24334125 Male infer
tility, Az
oospermia,
oligozoos
permia
 MTHFR (C677T and A1298C) and MTRR (A66G) polymorphisms Jordani
an
 300 (150 infert
ile men (45 oli
gozoospermia, 7
1 severe oligoz
oospermia, 34 a
zoopsermia), 15
0 controls)
 Male infertility
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
20888556 Sperm coun
ts
 MTHFR (c.1286A ? C, c.665C ? T and c.203G ? A) and two MTRR (c.66A ? G and c.524C ? T)
522 (268 men se
eking infertili
ty, 254 partner
s of infertile
women)
 Male infertility  MTHFR
 MTRR
 Show abstract
19657388 Unexplaine
d azoosper
mia, oligo
zoospermia
 MTHFR (R68Q, A222V and E429A), MTRR; (I22M and S175L), CBS; G307S French
 366 (70 unexpla
ined azoospermi
a, 182 oligozoo
spermia, 114 no
rmospermic and
fertile men )
 Male infertility
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
28436330 Oligoasthe
nozoosperm
ia, Male i
nfertility
  MTRR 66A>G
2801 (1438 pati
ents, 1363 cont
rols)
 Male infertility
Show abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract