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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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