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GGTLC1 gamma-glutamyltransferase light chain 1 [ Homo sapiens (human) ]

Gene ID: 92086, updated on 3-Apr-2024

Summary

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Official Symbol
GGTLC1provided by HGNC
Official Full Name
gamma-glutamyltransferase light chain 1provided by HGNC
Primary source
HGNC:HGNC:16437
See related
Ensembl:ENSG00000149435 MIM:612338; AllianceGenome:HGNC:16437
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GGTL6; GGTLA3; GGTLA4; dJ831C21.1; dJ831C21.2
Summary
This gene encodes a member of the gamma-glutamyl transpeptidase (GGT) family, which are important in the metabolism of glutathione. The most ubiquitously expressed human GGT gene, GGT1, encodes a single transmembrane polypeptide that is post-translationally processed to form a heavy and a light chain. In contrast, the product of this gene only contains homology to the light chain region, and lacks a transmembrane domain. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]
Expression
Biased expression in lung (RPKM 7.4), testis (RPKM 4.4) and 6 other tissues See more
Orthologs
all
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Genomic context

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Location:
20p11.21
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (23985053..23988779, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (24044914..24050102, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23965690..23969416, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23859878-23860707 Neighboring gene cystatin D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23870192-23870692 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:23898319-23899110 Neighboring gene cystatin pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23918707-23919207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23965513-23966509 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23974385-23975104 Neighboring gene uncharacterized LOC107985438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23975825-23976543 Neighboring gene POM121 transmembrane nucleoporin like 3, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Human lung expresses unique gamma-glutamyl transpeptidase transcripts. Wetmore LA, et al. Proc Natl Acad Sci U S A, 1993 Aug 15. PMID 7689219, Free PMC Article
  2. Molecular characterization of human acetyl-CoA synthetase, an enzyme regulated by sterol regulatory element-binding proteins. Luong A, et al. J Biol Chem, 2000 Aug 25. PMID 10843999
  3. The human gamma-glutamyltransferase gene family. Heisterkamp N, et al. Hum Genet, 2008 May. PMID 18357469
  4. Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer. Kerns SL, et al. Int J Radiat Oncol Biol Phys, 2010 Dec 1. PMID 20932654, Free PMC Article
  5. The identification of myocilin-associated proteins in the human trabecular meshwork. Fautsch MP, et al. Exp Eye Res, 2006 Jun. PMID 16289162

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC50550

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glutathione hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in glutathione catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in leukotriene D4 biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  

General protein information

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Preferred Names
glutathione hydrolase light chain 1
Names
gamma-glutamyl transpeptidase
gamma-glutamyltransferase-like activity 3
gamma-glutamyltransferase-like activity 4
gamma-glutamyltransferase-like protein 6
NP_842563.1
NP_842564.1
XP_005260920.1
XP_005260921.1
XP_005260922.1
XP_011527693.1
XP_011527694.1
XP_011527695.1
XP_016883615.1
XP_054180181.1
XP_054180182.1
XP_054180183.1
XP_054180184.1
XP_054180185.1
XP_054180186.1
XP_054180187.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_178311.3 → NP_842563.1  glutathione hydrolase light chain 1

    See identical proteins and their annotated locations for NP_842563.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) represents the longer transcript. Both variants A and B encode the same protein.
    Source sequence(s)
    AL133466, BC040904
    Consensus CDS
    CCDS13163.1
    UniProtKB/Swiss-Prot
    D3DW43, Q08246, Q9BX51
    UniProtKB/TrEMBL
    Q6ISU8
    Related
    ENSP00000337587.4, ENST00000335694.4
    Conserved Domains (1) summary
    cl19223
    Location:1 → 220
    G_glu_transpept; Gamma-glutamyltranspeptidase

  2. NM_178312.3 → NP_842564.1  glutathione hydrolase light chain 1

    See identical proteins and their annotated locations for NP_842564.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) differs in the 5' UTR compared to variant A. Both variants A and B encode the same protein.
    Source sequence(s)
    BC040904, L20491
    Consensus CDS
    CCDS13163.1
    UniProtKB/Swiss-Prot
    D3DW43, Q08246, Q9BX51
    UniProtKB/TrEMBL
    Q6ISU8
    Related
    ENSP00000278765.4, ENST00000278765.8
    Conserved Domains (1) summary
    cl19223
    Location:1 → 220
    G_glu_transpept; Gamma-glutamyltranspeptidase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    23985053..23988779 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529393.3 → XP_011527695.1  glutathione hydrolase light chain 1 isoform X3

    See identical proteins and their annotated locations for XP_011527695.1

    UniProtKB/TrEMBL
    Q6ISU8
    Conserved Domains (1) summary
    cl19223
    Location:2 → 190
    G_glu_transpept; Gamma-glutamyltranspeptidase

  2. XM_005260863.5 → XP_005260920.1  glutathione hydrolase light chain 1 isoform X1

    See identical proteins and their annotated locations for XP_005260920.1

    UniProtKB/TrEMBL
    Q6ISU8
    Conserved Domains (1) summary
    cl19223
    Location:1 → 247
    G_glu_transpept; Gamma-glutamyltranspeptidase

  3. XM_011529392.3 → XP_011527694.1  glutathione hydrolase light chain 1 isoform X3

    See identical proteins and their annotated locations for XP_011527694.1

    UniProtKB/TrEMBL
    Q6ISU8
    Conserved Domains (1) summary
    cl19223
    Location:2 → 190
    G_glu_transpept; Gamma-glutamyltranspeptidase

  4. XM_005260865.5 → XP_005260922.1  glutathione hydrolase light chain 1 isoform X2

    See identical proteins and their annotated locations for XP_005260922.1

    UniProtKB/Swiss-Prot
    D3DW43, Q08246, Q9BX51
    UniProtKB/TrEMBL
    Q6ISU8
    Conserved Domains (1) summary
    cl19223
    Location:1 → 220
    G_glu_transpept; Gamma-glutamyltranspeptidase

  5. XM_005260864.5 → XP_005260921.1  glutathione hydrolase light chain 1 isoform X1

    See identical proteins and their annotated locations for XP_005260921.1

    UniProtKB/TrEMBL
    Q6ISU8
    Conserved Domains (1) summary
    cl19223
    Location:1 → 247
    G_glu_transpept; Gamma-glutamyltranspeptidase

  6. XM_011529391.4 → XP_011527693.1  glutathione hydrolase light chain 1 isoform X1

    See identical proteins and their annotated locations for XP_011527693.1

    UniProtKB/TrEMBL
    Q6ISU8
    Conserved Domains (1) summary
    cl19223
    Location:1 → 247
    G_glu_transpept; Gamma-glutamyltranspeptidase

  7. XM_017028126.3 → XP_016883615.1  glutathione hydrolase light chain 1 isoform X2

    UniProtKB/Swiss-Prot
    D3DW43, Q08246, Q9BX51
    UniProtKB/TrEMBL
    Q6ISU8
    Conserved Domains (1) summary
    cl19223
    Location:1 → 220
    G_glu_transpept; Gamma-glutamyltranspeptidase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    24044914..24050102 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324210.1 → XP_054180185.1  glutathione hydrolase light chain 1 isoform X3

  2. XM_054324207.1 → XP_054180182.1  glutathione hydrolase light chain 1 isoform X1

  3. XM_054324209.1 → XP_054180184.1  glutathione hydrolase light chain 1 isoform X3

  4. XM_054324208.1 → XP_054180183.1  glutathione hydrolase light chain 1 isoform X2

    UniProtKB/Swiss-Prot
    D3DW43, Q08246, Q9BX51

  5. XM_054324206.1 → XP_054180181.1  glutathione hydrolase light chain 1 isoform X1

  6. XM_054324211.1 → XP_054180186.1  glutathione hydrolase light chain 1 isoform X1

  7. XM_054324212.1 → XP_054180187.1  glutathione hydrolase light chain 1 isoform X2

    UniProtKB/Swiss-Prot
    D3DW43, Q08246, Q9BX51

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_080920.2: Suppressed sequence

    Description
    NM_080920.2: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BX51.2 GenPept UniProtKB/Swiss-Prot:Q9BX51

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