Entity Details

Primary name METH_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ99707
EntryNameMETH_HUMAN
FullNameMethionine synthase
TaxID9606
Evidenceevidence at protein level
Length1265
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesMTR

GO terms

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GOName
GO:0000096 sulfur amino acid metabolic process
GO:0005829 cytosol
GO:0007399 nervous system development
GO:0008270 zinc ion binding
GO:0008705 methionine synthase activity
GO:0009086 methionine biosynthetic process
GO:0009235 cobalamin metabolic process
GO:0031103 axon regeneration
GO:0031419 cobalamin binding
GO:0032259 methylation
GO:0042558 pteridine-containing compound metabolic process
GO:0048678 response to axon injury
GO:0071732 cellular response to nitric oxide

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR000489 Pterin-binding domainDomainDomain
IPR003726 Homocysteine-binding domainDomainDomain
IPR003759 Cobalamin (vitamin B12)-binding module, cap domainDomainDomain
IPR004223 Vitamin B12-dependent methionine synthase, activation domainDomainDomain
IPR006158 Cobalamin (vitamin B12)-binding domainDomainDomain
IPR011005 Dihydropteroate synthase-likeFamilyHomologous superfamily
IPR011822 Cobalamin-dependent methionine synthaseFamilyFamily
IPR033706 Methionine synthase, B12-binding domainDomainDomain
IPR036589 Homocysteine-binding domain superfamilyFamilyHomologous superfamily
IPR036594 Methionine synthase domainFamilyHomologous superfamily
IPR036724 Cobalamin-binding domain superfamilyFamilyHomologous superfamily
IPR037010 Vitamin B12-dependent methionine synthase, activation domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
250940 OMIMHomocystinuria-megaloblastic anemia, cblG complementation type (HMAG)An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia. The disease is caused by variants affecting the gene represented in this entry.
601634 OMIMNeural tube defects, folate-sensitive (NTDFS)The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00115 CyanocobalaminDrugbanksmall molecule
DB00116 Tetrahydrofolic acidDrugbanksmall molecule
DB00134 MethionineDrugbanksmall molecule
DB00200 HydroxocobalaminDrugbanksmall molecule
DB03614 MecobalaminDrugbanksmall molecule
DB11256 Levomefolic acidSwissprotsmall molecule
DB11590 ThimerosalDrugbanksmall molecule