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

Gene ID: 2687, updated on 26-Jun-2015
Official Symbol
GGT5provided by HGNC
Official Full Name
gamma-glutamyltransferase 5provided by HGNC
Primary source
HGNC:HGNC:4260
See related
Ensembl:ENSG00000099998; HPRD:00666; MIM:137168; Vega:OTTHUMG00000150796
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]
Orthologs
See GGT5 in Epigenomics, MapViewer
Location:
22q11.23
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 sushi domain containing 2 Neighboring gene POM121 transmembrane nucleoporin-like 9, pseudogene Neighboring gene gamma-glutamyltransferase light chain 4 pseudogene Neighboring gene breakpoint cluster region pseudogene 1

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

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

Markers

Homology

Clone Names

  • FLJ92733, DKFZp566O011

Gene Ontology Provided by GOA

Function Evidence Code Pubs
gamma-glutamyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
glutathione hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
arachidonic acid metabolic process TAS
Traceable Author Statement
more info
 
cellular amino acid metabolic process TAS
Traceable Author Statement
more info
PubMed 
glutathione biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
glutathione metabolic process TAS
Traceable Author Statement
more info
PubMed 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
leukotriene biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
leukotriene metabolic process TAS
Traceable Author Statement
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
anchored component of external side of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
gamma-glutamyltransferase 5
Names
gamma-glutamyltransferase 5
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

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  gamma-glutamyltransferase 5 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, OTTHUMP00000198514, ENST00000398292, OTTHUMT00000320121
    Conserved Domains (1) summary
    pfam01019
    Location:58582
    G_glu_transpept; Gamma-glutamyltranspeptidase
  2. NM_001099782.2NP_001093252.1  gamma-glutamyltransferase 5 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, OTTHUMP00000198513, ENST00000263112, OTTHUMT00000320120
    Conserved Domains (1) summary
    pfam01019
    Location:58549
    G_glu_transpept; Gamma-glutamyltranspeptidase
  3. NM_001302464.1NP_001289393.1  gamma-glutamyltransferase 5 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:58506
    G_glu_transpept; Gamma-glutamyltranspeptidase
  4. NM_001302465.1NP_001289394.1  gamma-glutamyltransferase 5 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
    UniProtKB/Swiss-Prot
    P36269
    Conserved Domains (1) summary
    cl19223
    Location:123505
    G_glu_transpept; Gamma-glutamyltranspeptidase
  5. NM_004121.3NP_004112.2  gamma-glutamyltransferase 5 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, OTTHUMP00000198512, ENST00000327365, OTTHUMT00000320119
    Conserved Domains (1) summary
    pfam01019
    Location:58581
    G_glu_transpept; Gamma-glutamyltranspeptidase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011530135.1XP_011528437.1  

    Conserved Domains (1) summary
    pfam01019
    Location:58586
    G_glu_transpept; Gamma-glutamyltranspeptidase
  2. XM_011530138.1XP_011528440.1  

    Conserved Domains (1) summary
    cl19223
    Location:89458
    G_glu_transpept; Gamma-glutamyltranspeptidase
  3. XM_005261558.2XP_005261615.1  

    Conserved Domains (1) summary
    pfam01019
    Location:58612
    G_glu_transpept; Gamma-glutamyltranspeptidase
  4. XM_005261557.2XP_005261614.1  

    Conserved Domains (1) summary
    pfam01019
    Location:58613
    G_glu_transpept; Gamma-glutamyltranspeptidase
  5. XM_011530134.1XP_011528436.1  

    Conserved Domains (1) summary
    pfam01019
    Location:58587
    G_glu_transpept; Gamma-glutamyltranspeptidase
  6. XM_011530133.1XP_011528435.1  

    Conserved Domains (1) summary
    pfam01019
    Location:58618
    G_glu_transpept; Gamma-glutamyltranspeptidase
  7. XM_011530136.1XP_011528438.1  

    Conserved Domains (1) summary
    pfam01019
    Location:58544
    G_glu_transpept; Gamma-glutamyltranspeptidase
  8. XM_011530137.1XP_011528439.1  

    Conserved Domains (1) summary
    pfam01019
    Location:58544
    G_glu_transpept; Gamma-glutamyltranspeptidase

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 Alternate CHM1_1.1

    Range
    24574371..24599750
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)