1. Gene
  2. GCLM - glutamate-cysteine ligase modifier subunit Gene

GCLM - glutamate-cysteine ligase modifier subunit Gene

Homo sapiens

Also known as GLCLR

Gene ID: 2730 | Gene type: protein coding

About GCLM

Cytogenetic location: 1p22.1 Genomic coordinates (GRCh38): 1:93,885,199-93,909,430 (from NCBI)

This gene has 4 transcripts (splice variants), 204 orthologues and is associated with 1 phenotype. Ubiquitous expression in liver (RPKM 13.0), thyroid (RPKM 9.9) and 24 other tissues.

Summary

Glutamate-cysteine Ligase, also known as gamma-glutamylcysteine synthetase, is the first rate limiting Enzyme of glutathione synthesis. The Enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

GCLM Products(2)

mRNA Protein Name
NM_001308253.2 NP_001295182.1 glutamate--cysteine ligase regulatory subunit isoform 2
NM_002061.4 NP_002052.1 glutamate--cysteine ligase regulatory subunit isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
contributes to glutamate-cysteine ligase activity IMP
IMP: Inferred from mutant phenotype
16183645 GOA
enables glutamate-cysteine ligase catalytic subunit binding IPI
IPI: Inferred from physical interaction
9675072 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9675072 GOA
Biological Process GO Annotation Evidence Reference Source
involved in blood vessel diameter maintenance IMP
IMP: Inferred from mutant phenotype
12975258 GOA
involved in glutamate metabolic process IDA
IDA: Inferred from direct assay
9841880 GOA
involved in glutathione biosynthetic process IDA
IDA: Inferred from direct assay
9675072 GOA
involved in glutathione biosynthetic process IMP
IMP: Inferred from mutant phenotype
12081989 GOA
involved in response to oxidative stress IDA
IDA: Inferred from direct assay
10395918 GOA
involved in response to xenobiotic stimulus IDA
IDA: Inferred from direct assay
9895302 GOA
Cellular Component GO Annotation Evidence Reference Source
part of glutamate-cysteine ligase complex IDA
IDA: Inferred from direct assay
9675072 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GCLM Protein Structure

Aldo_ket_red

Aldo_ket_red: Aldo/keto reductase family (76 - 193)

  • 0
  • 100
  • 200
  • 274 a.a.
Protein Preferred Names Protein Names

glutamate--cysteine ligase regulatory subunit

GCS light chain

GCLM Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
GCLM P48507 GCLC Homo sapiens P48506 33961781
Intra
GCLM P48507 GCLC Homo sapiens P48506 9675072
Intra
GCLM P48507 OSGIN1 Homo sapiens Q9UJX0 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

GCLM Antibodies

Cat. No. Product Name Application Reactivity
HY-P81662 GCLM Antibody (YA1407) WB, IHC-P, ICC/IF, IP, FC Human, Mouse, Rat

Related Diseases

Diseases Alias
Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect

Parkinson Disease 4, Autosomal Dominant

Autosomal Dominant Parkinson Disease 4

PARK4

Parkinson Disease 4, Autosomal Dominant Lewy Body

Parkinson Disease 4

Parkinson'S Disease 4

Autosomal Dominant Lewy Body Parkinson Disease 4

Autosomal Dominant Parkinson'S Disease 4

Parkinson Disease 4 Autosomal Dominant Lewy Body

Parkinson Disease Autosomal Dominant 4

Parkinson Disease Familial Type 4

Parkinson Disease, Type 4

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris GCLM VGNC VGNC:41148
Rattus norvegicus GCLM RGD RGD:619871
Bos taurus GCLM VGNC VGNC:29290
Felis catus GCLM VGNC VGNC:80218
Macaca mulatta GCLM VGNC VGNC:72924
Mus musculus GCLM MGD MGI:104995