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    GGT5 gamma-glutamyltransferase 5 [ Homo sapiens (human) ]

    Gene ID: 2687, updated on 27-Nov-2024

    Summary

    Official Symbol
    GGT5provided by HGNC
    Official Full Name
    gamma-glutamyltransferase 5provided by HGNC
    Primary source
    HGNC:HGNC:4260
    See related
    Ensembl:ENSG00000099998 MIM:137168; AllianceGenome:HGNC:4260
    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
    GGL; GGT 5; GGTLA1; GGT-REL
    Summary
    This gene is a member of the gamma-glutamyl transpeptidase gene family, and some reports indicate that it is capable of cleaving the gamma-glutamyl moiety of glutathione. The protein encoded by this gene is synthesized as a single, catalytically-inactive polypeptide, that is processed post-transcriptionally to form a heavy and light subunit, with the catalytic activity contained within the small subunit. The encoded enzyme is able to convert leukotriene C4 to leukotriene D4, but appears to have distinct substrate specificity compared to gamma-glutamyl transpeptidase. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
    Expression
    Ubiquitous expression in fat (RPKM 18.6), kidney (RPKM 15.2) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GGT5 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24219654..24245142, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (24681268..24706753, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24615622..24641110, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24585541-24586182 Neighboring gene sushi domain containing 2 Neighboring gene MPRA-validated peak4472 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18765 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24601258-24602226 Neighboring gene uncharacterized LOC124905090 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:24609597-24610123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24639831-24640386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24640387-24640942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24642055-24642610 Neighboring gene Sharpr-MPRA regulatory region 1554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24647549-24648049 Neighboring gene gamma-glutamyltransferase light chain 4 pseudogene Neighboring gene POM121 transmembrane nucleoporin like 9, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24651904-24652808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24655631-24656248 Neighboring gene BCR pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of gamma-glutamyltransferase 5 (GGT5) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ92733, DKFZp566O011

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glutathione hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glutathione hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables leukotriene C4 gamma-glutamyl transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables leukotriene-C(4) hydrolase IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables leukotriene-C(4) hydrolase IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptidyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in amino acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glutathione biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glutathione catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glutathione catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in leukotriene D4 biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in leukotriene D4 biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in leukotriene D4 biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    glutathione hydrolase 5 proenzyme
    Names
    gamma-glutamyl cleaving enzyme
    gamma-glutamyl transpeptidase-related enzyme
    gamma-glutamyl transpeptidase-related protein
    gamma-glutamyltransferase-like activity 1
    gamma-glutamyltranspeptidase 5
    leukotriene-C4 hydrolase
    NP_001093251.1
    NP_001093252.1
    NP_001289393.1
    NP_001289394.1
    NP_004112.2
    XP_005261614.1
    XP_005261615.1
    XP_011528435.1
    XP_011528436.1
    XP_011528437.1
    XP_011528438.1
    XP_011528439.1
    XP_016884257.1
    XP_016884258.1
    XP_047297284.1
    XP_047297285.1
    XP_047297286.1
    XP_047297287.1
    XP_054181502.1
    XP_054181503.1
    XP_054181504.1
    XP_054181505.1
    XP_054181506.1
    XP_054181507.1
    XP_054181508.1
    XP_054181509.1
    XP_054181510.1
    XP_054181511.1
    XP_054181512.1
    XP_054181513.1
    XP_054181514.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001099781.2NP_001093251.1  glutathione hydrolase 5 proenzyme isoform 1

      See identical proteins and their annotated locations for NP_001093251.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC073999, BU728951, BX403504
      Consensus CDS
      CCDS42990.1
      UniProtKB/TrEMBL
      B4DND4
      Related
      ENSP00000381340.3, ENST00000398292.3
      Conserved Domains (1) summary
      pfam01019
      Location:60582
      G_glu_transpept; Gamma-glutamyltranspeptidase
    2. NM_001099782.2NP_001093252.1  glutathione hydrolase 5 proenzyme isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AK225661, BU728951, BX403504
      Consensus CDS
      CCDS42989.1
      UniProtKB/TrEMBL
      B4DEL3
      Related
      ENSP00000263112.7, ENST00000263112.11
      Conserved Domains (1) summary
      pfam01019
      Location:60549
      G_glu_transpept; Gamma-glutamyltranspeptidase
    3. NM_001302464.1NP_001289393.1  glutathione hydrolase 5 proenzyme isoform 4

      See identical proteins and their annotated locations for NP_001289393.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences in the coding region, one of which results in a translational frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK225661, AL117414, BU728951, BX403504
      UniProtKB/Swiss-Prot
      P36269
      Conserved Domains (1) summary
      pfam01019
      Location:60506
      G_glu_transpept; Gamma-glutamyltranspeptidase
    4. NM_001302465.1NP_001289394.1  glutathione hydrolase 5 proenzyme isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two alternate exons and uses an alternate splice site in the 5' coding region, compared to variant 1. The encoded isoform (5) is shorter and contains a distinct internal segment, compared to isoform 1.
      Source sequence(s)
      AK293683, BC073999, BU728951, BX403504
      UniProtKB/TrEMBL
      B4DEL3
      Conserved Domains (1) summary
      cl19223
      Location:123505
      G_glu_transpept; Gamma-glutamyltranspeptidase
    5. NM_004121.5NP_004112.2  glutathione hydrolase 5 proenzyme isoform 2

      See identical proteins and their annotated locations for NP_004112.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is one amino acid shorter than isoform 1.
      Source sequence(s)
      AP000353, AP000354
      Consensus CDS
      CCDS13825.1
      UniProtKB/Swiss-Prot
      P36269, Q53XM9, Q6GMP0, Q96FC1, Q9UFM5
      UniProtKB/TrEMBL
      B4DND4
      Related
      ENSP00000330080.4, ENST00000327365.10
      Conserved Domains (1) summary
      pfam01019
      Location:60581
      G_glu_transpept; Gamma-glutamyltranspeptidase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      24219654..24245142 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028768.3XP_016884257.1  glutathione hydrolase 5 proenzyme isoform X6

      UniProtKB/TrEMBL
      B4DND4
    2. XM_017028769.3XP_016884258.1  glutathione hydrolase 5 proenzyme isoform X10

      UniProtKB/TrEMBL
      B4DEL3
    3. XM_011530135.3XP_011528437.1  glutathione hydrolase 5 proenzyme isoform X5

      Conserved Domains (1) summary
      pfam01019
      Location:60586
      G_glu_transpept; Gamma-glutamyltranspeptidase
    4. XM_005261558.4XP_005261615.1  glutathione hydrolase 5 proenzyme isoform X3

      UniProtKB/TrEMBL
      B4DND4
      Conserved Domains (1) summary
      pfam01019
      Location:60612
      G_glu_transpept; Gamma-glutamyltranspeptidase
    5. XM_005261557.4XP_005261614.1  glutathione hydrolase 5 proenzyme isoform X2

      UniProtKB/TrEMBL
      B4DND4
      Conserved Domains (1) summary
      pfam01019
      Location:60613
      G_glu_transpept; Gamma-glutamyltranspeptidase
    6. XM_011530134.3XP_011528436.1  glutathione hydrolase 5 proenzyme isoform X4

      UniProtKB/TrEMBL
      B4DND4
      Conserved Domains (1) summary
      pfam01019
      Location:60587
      G_glu_transpept; Gamma-glutamyltranspeptidase
    7. XM_011530133.3XP_011528435.1  glutathione hydrolase 5 proenzyme isoform X1

      UniProtKB/TrEMBL
      B4DND4
      Conserved Domains (1) summary
      pfam01019
      Location:60618
      G_glu_transpept; Gamma-glutamyltranspeptidase
    8. XM_011530136.3XP_011528438.1  glutathione hydrolase 5 proenzyme isoform X8

      Conserved Domains (1) summary
      pfam01019
      Location:60544
      G_glu_transpept; Gamma-glutamyltranspeptidase
    9. XM_047441331.1XP_047297287.1  glutathione hydrolase 5 proenzyme isoform X13

    10. XM_047441330.1XP_047297286.1  glutathione hydrolase 5 proenzyme isoform X12

    11. XM_047441328.1XP_047297284.1  glutathione hydrolase 5 proenzyme isoform X7

    12. XM_047441329.1XP_047297285.1  glutathione hydrolase 5 proenzyme isoform X9

    13. XM_011530137.4XP_011528439.1  glutathione hydrolase 5 proenzyme isoform X11

      UniProtKB/TrEMBL
      B4DND4
      Conserved Domains (1) summary
      pfam01019
      Location:60544
      G_glu_transpept; Gamma-glutamyltranspeptidase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      24681268..24706753 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325532.1XP_054181507.1  glutathione hydrolase 5 proenzyme isoform X6

    2. XM_054325536.1XP_054181511.1  glutathione hydrolase 5 proenzyme isoform X10

    3. XM_054325531.1XP_054181506.1  glutathione hydrolase 5 proenzyme isoform X5

    4. XM_054325529.1XP_054181504.1  glutathione hydrolase 5 proenzyme isoform X3

    5. XM_054325528.1XP_054181503.1  glutathione hydrolase 5 proenzyme isoform X2

    6. XM_054325530.1XP_054181505.1  glutathione hydrolase 5 proenzyme isoform X4

    7. XM_054325527.1XP_054181502.1  glutathione hydrolase 5 proenzyme isoform X1

    8. XM_054325534.1XP_054181509.1  glutathione hydrolase 5 proenzyme isoform X8

    9. XM_054325539.1XP_054181514.1  glutathione hydrolase 5 proenzyme isoform X13

    10. XM_054325538.1XP_054181513.1  glutathione hydrolase 5 proenzyme isoform X12

    11. XM_054325533.1XP_054181508.1  glutathione hydrolase 5 proenzyme isoform X7

    12. XM_054325535.1XP_054181510.1  glutathione hydrolase 5 proenzyme isoform X9

    13. XM_054325537.1XP_054181512.1  glutathione hydrolase 5 proenzyme isoform X11