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P48507

- GSH0_HUMAN

UniProt

P48507 - GSH0_HUMAN

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Protein

Glutamate--cysteine ligase regulatory subunit

Gene

GCLM

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Pathwayi

GO - Molecular functioni

  1. glutamate-cysteine ligase activity Source: Ensembl
  2. glutamate-cysteine ligase catalytic subunit binding Source: UniProtKB

GO - Biological processi

  1. apoptotic mitochondrial changes Source: Ensembl
  2. cellular nitrogen compound metabolic process Source: Reactome
  3. cysteine metabolic process Source: Ensembl
  4. glutamate metabolic process Source: UniProtKB
  5. glutathione biosynthetic process Source: UniProtKB
  6. glutathione derivative biosynthetic process Source: Reactome
  7. negative regulation of extrinsic apoptotic signaling pathway Source: Ensembl
  8. negative regulation of neuron apoptotic process Source: Ensembl
  9. positive regulation of glutamate-cysteine ligase activity Source: Ensembl
  10. regulation of blood vessel size Source: UniProtKB
  11. regulation of mitochondrial depolarization Source: Ensembl
  12. response to drug Source: UniProtKB
  13. response to nitrosative stress Source: Ensembl
  14. response to oxidative stress Source: UniProtKB
  15. small molecule metabolic process Source: Reactome
  16. sulfur amino acid metabolic process Source: Reactome
  17. xenobiotic metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Glutathione biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000023909-MONOMER.
BRENDAi6.3.2.2. 2681.
ReactomeiREACT_115639. Sulfur amino acid metabolism.
REACT_6960. Glutathione synthesis and recycling.
UniPathwayiUPA00142; UER00209.

Names & Taxonomyi

Protein namesi
Recommended name:
Glutamate--cysteine ligase regulatory subunit
Alternative name(s):
GCS light chain
Gamma-ECS regulatory subunit
Gamma-glutamylcysteine synthetase regulatory subunit
Glutamate--cysteine ligase modifier subunit
Gene namesi
Name:GCLM
Synonyms:GLCLR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:4312. GCLM.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: UniProtKB
  2. glutamate-cysteine ligase complex Source: Ensembl
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

MIMi601176. gene+phenotype.
PharmGKBiPA28613.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 274274Glutamate--cysteine ligase regulatory subunitPRO_0000192573Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei263 – 2631N6-acetyllysine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP48507.
PaxDbiP48507.
PeptideAtlasiP48507.
PRIDEiP48507.

2D gel databases

OGPiP48507.

PTM databases

PhosphoSiteiP48507.

Expressioni

Tissue specificityi

In all tissues examined. Highest levels in skeletal muscle.

Gene expression databases

BgeeiP48507.
CleanExiHS_GCLM.
ExpressionAtlasiP48507. baseline and differential.
GenevestigatoriP48507.

Organism-specific databases

HPAiCAB009568.
CAB040554.
HPA023696.
HPA053656.

Interactioni

Subunit structurei

Heterodimer of a catalytic heavy chain and a regulatory light chain.

Protein-protein interaction databases

BioGridi108992. 13 interactions.
IntActiP48507. 3 interactions.
STRINGi9606.ENSP00000359258.

Structurei

3D structure databases

ProteinModelPortaliP48507.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0656.
GeneTreeiENSGT00510000047658.
HOGENOMiHOG000007111.
HOVERGENiHBG005923.
InParanoidiP48507.
KOiK11205.
OMAiWRLEWVL.
OrthoDBiEOG7B5WWG.
PhylomeDBiP48507.
TreeFamiTF105986.

Family and domain databases

Gene3Di3.20.20.100. 1 hit.
InterProiIPR023210. NADP_OxRdtase_dom.
[Graphical view]
PfamiPF00248. Aldo_ket_red. 1 hit.
[Graphical view]
SUPFAMiSSF51430. SSF51430. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P48507-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGTDSRAAKA LLARARTLHL QTGNLLNWGR LRKKCPSTHS EELHDCIQKT
60 70 80 90 100
LNEWSSQINP DLVREFPDVL ECTVSHAVEK INPDEREEMK VSAKLFIVES
110 120 130 140 150
NSSSSTRSAV DMACSVLGVA QLDSVIIASP PIEDGVNLSL EHLQPYWEEL
160 170 180 190 200
ENLVQSKKIV AIGTSDLDKT QLEQLYQWAQ VKPNSNQVNL ASCCVMPPDL
210 220 230 240 250
TAFAKQFDIQ LLTHNDPKEL LSEASFQEAL QESIPDIQAH EWVPLWLLRY
260 270
SVIVKSRGII KSKGYILQAK RRGS
Length:274
Mass (Da):30,727
Last modified:February 1, 1996 - v1
Checksum:i88F73E22322E40B2
GO
Isoform 2 (identifier: P48507-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     43-64: Missing.

Show »
Length:252
Mass (Da):28,135
Checksum:i8626F088B6BD810B
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti209 – 2091I → M.1 Publication
Corresponds to variant rs17880087 [ dbSNP | Ensembl ].
VAR_021063

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei43 – 6422Missing in isoform 2. 1 PublicationVSP_057008Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L35546 mRNA. Translation: AAA65028.1.
AB809606 mRNA. Translation: BAN05309.1.
CR541833 mRNA. Translation: CAG46632.1.
AY773965 Genomic DNA. Translation: AAV28733.1.
AK290449 mRNA. Translation: BAF83138.1.
AL049796, AL117351 Genomic DNA. Translation: CAI21813.1.
AL117351, AL049796 Genomic DNA. Translation: CAI22976.1.
CH471097 Genomic DNA. Translation: EAW73060.1.
CH471097 Genomic DNA. Translation: EAW73061.1.
BC041809 mRNA. Translation: AAH41809.1.
CCDSiCCDS746.1.
PIRiJC2474.
RefSeqiNP_002052.1. NM_002061.2.
UniGeneiHs.315562.

Genome annotation databases

EnsembliENST00000370238; ENSP00000359258; ENSG00000023909.
GeneIDi2730.
KEGGihsa:2730.
UCSCiuc001dqg.1. human.

Polymorphism databases

DMDMi1346188.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L35546 mRNA. Translation: AAA65028.1 .
AB809606 mRNA. Translation: BAN05309.1 .
CR541833 mRNA. Translation: CAG46632.1 .
AY773965 Genomic DNA. Translation: AAV28733.1 .
AK290449 mRNA. Translation: BAF83138.1 .
AL049796 , AL117351 Genomic DNA. Translation: CAI21813.1 .
AL117351 , AL049796 Genomic DNA. Translation: CAI22976.1 .
CH471097 Genomic DNA. Translation: EAW73060.1 .
CH471097 Genomic DNA. Translation: EAW73061.1 .
BC041809 mRNA. Translation: AAH41809.1 .
CCDSi CCDS746.1.
PIRi JC2474.
RefSeqi NP_002052.1. NM_002061.2.
UniGenei Hs.315562.

3D structure databases

ProteinModelPortali P48507.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108992. 13 interactions.
IntActi P48507. 3 interactions.
STRINGi 9606.ENSP00000359258.

Chemistry

DrugBanki DB00151. L-Cysteine.

PTM databases

PhosphoSitei P48507.

Polymorphism databases

DMDMi 1346188.

2D gel databases

OGPi P48507.

Proteomic databases

MaxQBi P48507.
PaxDbi P48507.
PeptideAtlasi P48507.
PRIDEi P48507.

Protocols and materials databases

DNASUi 2730.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000370238 ; ENSP00000359258 ; ENSG00000023909 .
GeneIDi 2730.
KEGGi hsa:2730.
UCSCi uc001dqg.1. human.

Organism-specific databases

CTDi 2730.
GeneCardsi GC01M094351.
HGNCi HGNC:4312. GCLM.
HPAi CAB009568.
CAB040554.
HPA023696.
HPA053656.
MIMi 601176. gene+phenotype.
neXtProti NX_P48507.
PharmGKBi PA28613.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0656.
GeneTreei ENSGT00510000047658.
HOGENOMi HOG000007111.
HOVERGENi HBG005923.
InParanoidi P48507.
KOi K11205.
OMAi WRLEWVL.
OrthoDBi EOG7B5WWG.
PhylomeDBi P48507.
TreeFami TF105986.

Enzyme and pathway databases

UniPathwayi UPA00142 ; UER00209 .
BioCyci MetaCyc:ENSG00000023909-MONOMER.
BRENDAi 6.3.2.2. 2681.
Reactomei REACT_115639. Sulfur amino acid metabolism.
REACT_6960. Glutathione synthesis and recycling.

Miscellaneous databases

ChiTaRSi GCLM. human.
GeneWikii GCLM.
GenomeRNAii 2730.
NextBioi 10760.
PROi P48507.
SOURCEi Search...

Gene expression databases

Bgeei P48507.
CleanExi HS_GCLM.
ExpressionAtlasi P48507. baseline and differential.
Genevestigatori P48507.

Family and domain databases

Gene3Di 3.20.20.100. 1 hit.
InterProi IPR023210. NADP_OxRdtase_dom.
[Graphical view ]
Pfami PF00248. Aldo_ket_red. 1 hit.
[Graphical view ]
SUPFAMi SSF51430. SSF51430. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and sequencing of the cDNA for the light subunit of human liver gamma-glutamylcysteine synthetase and relative mRNA levels for heavy and light subunits in human normal tissues."
    Gipp J.J., Bailey H.H., Mulcahy R.T.
    Biochem. Biophys. Res. Commun. 206:584-589(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Liver.
  2. "Homo sapiens GCLM mRNA for glutamate-cysteine ligase, modifier subunit delta2 alternative splicing variant, complete cds."
    Sawada Y., Sudo M., Fujii A., Mizuochi A., Hisatomi H.
    Submitted (MAR-2013) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING.
  3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. NIEHS SNPs program
    Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT MET-209.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  6. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  9. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-263, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiGSH0_HUMAN
AccessioniPrimary (citable) accession number: P48507
Secondary accession number(s): A8K334
, D3DT45, M5A959, Q6FHC1, Q9NPX9, Q9NU74
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: October 29, 2014
This is version 129 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3