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

Gene ID: 2687, updated on 3-Apr-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
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Genomic context

See GGT5 in Genome Data Viewer
Location:
22q11.23
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24219654..24245142, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (24681268..24706753, complement)
105.20220307 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_2023_10

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