Format

Send to:

Choose Destination

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

Gene ID: 2687, updated on 13-Mar-2020

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
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

Genomic context

See GGT5 in Genome Data Viewer
Location:
22q11.23
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (24219654..24245142, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24615622..24641317, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene calcineurin binding protein 1 Neighboring gene skeletal muscle cis-regulatory module in CABIN1 intron Neighboring gene sushi domain containing 2 Neighboring gene POM121 transmembrane nucleoporin like 9, pseudogene Neighboring gene gamma-glutamyltransferase light chain 4 pseudogene 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

NHGRI GWAS Catalog

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

Homology

Clone Names

  • FLJ92733, DKFZp566O011

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glutathione hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutathione hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
hypoglycin A gamma-glutamyl transpeptidase activity IEA
Inferred from Electronic Annotation
more info
 
leukotriene C4 gamma-glutamyl transferase activity IEA
Inferred from Electronic Annotation
more info
 
leukotriene-C(4) hydrolase IDA
Inferred from Direct Assay
more info
PubMed 
peptidyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular amino acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
glutathione biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
glutathione catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutathione catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
leukotriene D4 biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
leukotriene D4 biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
leukotriene D4 biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
leukotriene metabolic process TAS
Traceable Author Statement
more info
 
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
response to estradiol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to lipopolysaccharide IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to tumor necrosis factor IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermatogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
translation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intrinsic component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
glutathione hydrolase 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

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    P36269
    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/Swiss-Prot
    P36269
    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/Swiss-Prot
    P36269
    UniProtKB/TrEMBL
    B4DEL3
    Conserved Domains (1) summary
    cl19223
    Location:123505
    G_glu_transpept; Gamma-glutamyltranspeptidase
  5. NM_004121.4NP_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)
    BC011362, BU728951, BX403504
    Consensus CDS
    CCDS13825.1
    UniProtKB/Swiss-Prot
    P36269
    Related
    ENSP00000330080.4, ENST00000327365.8
    Conserved Domains (1) summary
    pfam01019
    Location:60581
    G_glu_transpept; Gamma-glutamyltranspeptidase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017028768.2XP_016884257.1  glutathione hydrolase 5 proenzyme isoform X6

  2. XM_017028769.2XP_016884258.1  glutathione hydrolase 5 proenzyme isoform X8

  3. XM_011530135.2XP_011528437.1  glutathione hydrolase 5 proenzyme isoform X5

    Conserved Domains (1) summary
    pfam01019
    Location:60586
    G_glu_transpept; Gamma-glutamyltranspeptidase
  4. XM_005261558.3XP_005261615.1  glutathione hydrolase 5 proenzyme isoform X3

    Conserved Domains (1) summary
    pfam01019
    Location:60612
    G_glu_transpept; Gamma-glutamyltranspeptidase
  5. XM_005261557.3XP_005261614.1  glutathione hydrolase 5 proenzyme isoform X2

    Conserved Domains (1) summary
    pfam01019
    Location:60613
    G_glu_transpept; Gamma-glutamyltranspeptidase
  6. XM_011530134.2XP_011528436.1  glutathione hydrolase 5 proenzyme isoform X4

    Conserved Domains (1) summary
    pfam01019
    Location:60587
    G_glu_transpept; Gamma-glutamyltranspeptidase
  7. XM_011530133.2XP_011528435.1  glutathione hydrolase 5 proenzyme isoform X1

    Conserved Domains (1) summary
    pfam01019
    Location:60618
    G_glu_transpept; Gamma-glutamyltranspeptidase
  8. XM_011530136.2XP_011528438.1  glutathione hydrolase 5 proenzyme isoform X7

    Conserved Domains (1) summary
    pfam01019
    Location:60544
    G_glu_transpept; Gamma-glutamyltranspeptidase
  9. XM_011530137.3XP_011528439.1  glutathione hydrolase 5 proenzyme isoform X9

    Conserved Domains (1) summary
    pfam01019
    Location:60544
    G_glu_transpept; Gamma-glutamyltranspeptidase
Support Center