Reactome | GCLC P185L [cytosol]

GCLC P185L [cytosol]

Stable Identifier

R-HSA-5602975

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Glutamate--cysteine ligase heavy chain, gamma-glutamylcysteine heavy chain

Locations in the PathwayBrowser

Expand all

Disease (Homo sapiens)

- Diseases of metabolism (Homo sapiens)
  - Metabolic disorders of biological oxidation enzymes (Homo sapiens)
    - Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) (Homo sapiens)
      - Defective GCLC does not ligate L-Glu to L-Cys (Homo sapiens)
        
        GCLC mutants:GCLM [cytosol] (Homo sapiens)
        
        GCLC mutants [cytosol] (Homo sapiens)
        
        GCLC P185L [cytosol] (Homo sapiens)

External Reference Information

External Reference

UniProt:P48506 GCLC

Gene Names

GCLC, GLCL, GLCLC

Chain

chain:1-637

Reference Genes

BioGPS Gene:2729 GCLC

COSMIC (genes):GCLC GCLC

CTD Gene:2729 GCLC

dbSNP Gene:2729 GCLC

ENSEMBL:ENSG00000001084 GCLC

HGNC:4311 GCLC

KEGG Gene (Homo sapiens):2729 GCLC

Monarch:2729 GCLC

NCBI Gene:2729 GCLC

OMIM:606857 GCLC

UCSC:P48506 GCLC

Reference Transcript

Other Identifiers

0001990066

11729218_a_at

11750770_a_at

11754931_a_at

202922_at

202923_s_at

2729

2957706

2957707

2957708

2957709

2957710

2957712

2957714

2957715

2957717

2957722

2957724

2957725

2957727

2957730

2957732

2957737

2957738

2957741

2957742

2957750

2957751

2957752

2957767

2957768

2957769

31850_at

49163_at

52591_s_at

52592_r_at

56626_r_at

8127158

A_23_P145114

GE58133

GO:0000166

GO:0000287

GO:0003013

GO:0003674

GO:0003824

GO:0004357

GO:0005515

GO:0005524

GO:0005575

GO:0005622

GO:0005737

GO:0005739

GO:0005829

GO:0005975

GO:0006464

GO:0006520

GO:0006534

GO:0006536

GO:0006749

GO:0006750

GO:0006790

GO:0006810

GO:0006950

GO:0006979

GO:0007005

GO:0007165

GO:0007568

GO:0007584

GO:0008150

GO:0008219

GO:0009056

GO:0009058

GO:0009408

GO:0009410

GO:0009725

GO:0014823

GO:0016595

GO:0016874

GO:0017109

GO:0019852

GO:0031397

GO:0032436

GO:0032869

GO:0032991

GO:0034641

GO:0035729

GO:0042592

GO:0043066

GO:0043167

GO:0043226

GO:0043524

GO:0043531

GO:0044281

GO:0044344

GO:0044752

GO:0044877

GO:0045454

GO:0045892

GO:0046685

GO:0046686

GO:0051186

GO:0051409

GO:0051900

GO:0061024

GO:0070555

GO:0071260

GO:0071333

GO:0071372

GO:0097069

GO:0097746

GO:1901029

GO:2000490

GO:2001237

Hs.151393.0.S2_3p_at

ILMN_1730575

ILMN_2215194

M90656_at

TC06004051.hg

g4557624_3p_a_at

Participant Of

hasMember

GCLC mutants [cytosol]

Other forms of this molecule

GCLC H370L [cytosol]

GCLC R127C [cytosol]

GCLC [cytosol]

Modified Residues

Name

L-proline 158 replaced with L-leucine

Coordinate

158

PsiMod

L-proline removal [MOD:01645]

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

L-leucine residue [MOD:00020]

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

Disease

Name	Identifier	Synonyms
hemolytic anemia	583	Hemolytic anemias (disorder), Hemolytic anemia (disorder), Hemolytic anemias NOS (disorder), hemolytic anemia, ANEMIA HEMOLYTIC

Cross References

RefSeq

NP_001489.1, NP_001184044.1

OpenTargets

ENSG00000001084

HPA

ENSG00000001084-GCLC

GeneCards

P48506

ZINC - Substances

GSH1_HUMAN

ZINC target

P48506

Ensembl

ENSP00000497574, ENSG00000001084, ENST00000650454

PRO

P48506

ZINC - Predictions - Purchasable

GSH1_HUMAN

Orphanet

16111

HMDB Protein

HMDBP00512

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