Hmdb loader
Identification
HMDB Protein ID HMDBP00513
Secondary Accession Numbers
  • 5760
  • HMDBP04092
Name Glutamate--cysteine ligase regulatory subunit
Synonyms
  1. GCS light chain
  2. Gamma-ECS regulatory subunit
  3. Gamma-glutamylcysteine synthetase regulatory subunit
  4. Glutamate--cysteine ligase modifier subunit
Gene Name GCLM
Protein Type Enzyme
Biological Properties
General Function Involved in oxidoreductase activity
Specific Function Not Available
Pathways
  • 2-Hydroxyglutric Aciduria (D And L Form)
  • 4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency
  • 5-oxoprolinase deficiency
  • 5-Oxoprolinuria
  • Beta-mercaptolactate-cysteine disulfiduria
  • Cysteine Metabolism
  • Cystinosis, ocular nonnephropathic
  • Gamma-glutamyl-transpeptidase deficiency
  • Gamma-Glutamyltransferase Deficiency
  • Glutamate Metabolism
  • Glutathione metabolism
  • Glutathione Synthetase Deficiency
  • Homocarnosinosis
  • Hyperinsulinism-Hyperammonemia Syndrome
  • Succinic semialdehyde dehydrogenase deficiency
Reactions Not Available
GO Classification
Function
catalytic activity
oxidoreductase activity
Process
metabolic process
oxidation reduction
Cellular Location Not Available
Gene Properties
Chromosome Location Chromosome:1
Locus 1p22.1
SNPs GCLM
Gene Sequence
>825 bp
ATGGGCACCGACAGCCGCGCGGCCAAGGCGCTCCTGGCGCGGGCCCGCACCCTGCACCTG
CAGACGGGGAACCTGCTGAACTGGGGCCGCCTGCGGAAGAAGTGCCCGTCCACGCACAGC
GAGGAGCTTCATGATTGTATCCAAAAAACCTTGAATGAATGGAGTTCCCAAATCAACCCA
GATTTGGTCAGGGAGTTTCCAGATGTCTTGGAATGCACTGTATCTCATGCAGTAGAAAAG
ATAAATCCTGATGAAAGAGAAGAAATGAAAGTTTCTGCAAAACTGTTCATTGTAGAATCA
AACTCTTCATCATCAACTAGAAGTGCAGTTGACATGGCCTGTTCAGTCCTTGGAGTTGCA
CAGCTGGATTCTGTGATCATTGCTTCACCTCCTATTGAAGATGGAGTTAATCTTTCCTTG
GAGCATTTACAGCCTTACTGGGAGGAATTAGAAAACTTAGTTCAGAGCAAAAAGATTGTT
GCCATAGGTACCTCTGATCTAGACAAAACACAGTTGGAACAGCTGTATCAGTGGGCACAG
GTAAAACCAAATAGTAACCAAGTTAATCTTGCCTCCTGCTGTGTGATGCCACCAGATTTG
ACTGCATTTGCTAAACAATTTGACATACAGCTGTTGACTCACAATGATCCAAAAGAACTG
CTTTCTGAAGCAAGTTTCCAAGAAGCTCTTCAGGAAAGCATTCCTGACATTCAAGCGCAC
GAGTGGGTGCCGCTGTGGCTACTGCGGTATTCGGTCATTGTGAAAAGTAGAGGAATTATC
AAATCAAAAGGCTACATTTTACAAGCTAAAAGAAGGGGTTCTTAA
Protein Properties
Number of Residues 274
Molecular Weight 30726.7
Theoretical pI 5.91
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>Glutamate--cysteine ligase regulatory subunit
MGTDSRAAKALLARARTLHLQTGNLLNWGRLRKKCPSTHSEELHDCIQKTLNEWSSQINP
DLVREFPDVLECTVSHAVEKINPDEREEMKVSAKLFIVESNSSSSTRSAVDMACSVLGVA
QLDSVIIASPPIEDGVNLSLEHLQPYWEELENLVQSKKIVAIGTSDLDKTQLEQLYQWAQ
VKPNSNQVNLASCCVMPPDLTAFAKQFDIQLLTHNDPKELLSEASFQEALQESIPDIQAH
EWVPLWLLRYSVIVKSRGIIKSKGYILQAKRRGS
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID P48507
UniProtKB/Swiss-Prot Entry Name GSH0_HUMAN
PDB IDs Not Available
GenBank Gene ID L35546
GeneCard ID GCLM
GenAtlas ID GCLM
HGNC ID HGNC:4312
References
General References
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