Reactome | MTRR S454L [cytosol]

MTRR S454L [cytosol]

Stable Identifier

R-HSA-3318640

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Methionine synthase reductase, MTRR_HUMAN, MTRR

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Locations in the PathwayBrowser

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Disease (Homo sapiens)

- Diseases of metabolism (Homo sapiens)
  - Defects in vitamin and cofactor metabolism (Homo sapiens)
    - Defects in cobalamin (B12) metabolism (Homo sapiens)
      - Defective MTRR causes HMAE (Homo sapiens)
        
        Defective MTRR does not convert cob(II)alamin to MeCbl (Homo sapiens)
        
        mutant MTRR:MTR(cob(II)alamin) [cytosol] (Homo sapiens)
        
        mutant MTRR:FMN:FAD [cytosol] (Homo sapiens)
        
        MTRR mutants [cytosol] (Homo sapiens)
        
        MTRR S454L [cytosol] (Homo sapiens)

External Reference Information

External Reference

UniProt:Q9UBK8 MTRR

Gene Names

MTRR

Chain

chain:1-698

Reference Genes

BioGPS Gene:4552 MTRR

COSMIC (genes):MTRR MTRR

CTD Gene:4552 MTRR

dbSNP Gene:4552 MTRR

ENSEMBL:ENSG00000124275 MTRR

HGNC:7473 MTRR

KEGG:hsa:4552 MTRR

Monarch:4552 MTRR

NCBI Gene:4552 MTRR

OMIM:602568 MTRR

UCSC:Q9UBK8 MTRR

Reference Transcript

Other Identifiers

11731152_s_at

11731153_a_at

11731154_x_at

11743775_s_at

203199_PM_s_at

203199_s_at

203200_PM_s_at

203200_s_at

2800887

2800888

2800889

2800892

2800895

2800897

2800907

2800908

2800909

2800910

2800911

2800912

2800913

2800914

2800916

2800917

2800918

2800919

2800920

2800921

2800922

2800923

2800924

2800925

2800930

2800931

2800932

2800933

2800934

2800935

2800936

2800937

2800938

2800940

2800941

2800943

2800944

2800945

2800946

2800947

2800948

2800950

31883_at

4552

59961_at

8104422

90197_at

ADDON000819.hg

A_14_P114945

A_21_P0014138

A_21_P0014139

A_33_P3304377

GE54200

GO:0003824

GO:0003958

GO:0005515

GO:0005654

GO:0005737

GO:0005829

GO:0005856

GO:0006520

GO:0006575

GO:0006766

GO:0006790

GO:0009086

GO:0009235

GO:0010181

GO:0016491

GO:0016723

GO:0030586

GO:0033353

GO:0043226

GO:0043418

GO:0045111

GO:0046655

GO:0050660

GO:0050667

GO:0070402

GO:0071949

GO:1904042

HMNXSV003003357

HMNXSV003009785

HMNXSV003028813

HMNXSV003046430

Hs.153792.1.S1_3p_a_at

ILMN_1702684

ILMN_1718932

ILMN_2377977

PH_hs_0009249

TC05000056.hg

g13325067_3p_a_at

Participates

as a member of

MTRR mutants [cytosol] (Homo sapiens)

Other forms of this molecule

MTRR I22M [cytosol]

MTRR L576del [cytosol]

MTRR [cytosol]

Modified Residues

Name

L-serine 454 replaced with L-leucine

Coordinate

454

PsiMod

L-serine removal [MOD:01646]

A protein modification that effectively removes or replaces an L-serine.

L-leucine residue [MOD:00020]

A protein modification that effectively converts a source amino acid residue to an L-leucine.

Disease

Name	Identifier	Synonyms
methylmalonic aciduria and homocystinuria type cblE	DOID:0050732

Cross References

RefSeq

NP_002445.2, NP_076915.2

ENSEMBL

ENST00000440940, ENST00000264668, ENSP00000264668, ENSP00000402510

OpenTargets

ENSG00000124275

HPA

ENSG00000124275-MTRR

PRO

Q9UBK8

Pharos - Targets

Q9UBK8

GlyGen

Q9UBK8

Orphanet

MTRR

HMDB Protein

HMDBP00421

PDB

2QTL, 2QTZ

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