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HAGH hydroxyacylglutathione hydrolase [ Homo sapiens (human) ]

Gene ID: 3029, updated on 9-Dec-2018

Summary

Official Symbol
HAGHprovided by HGNC
Official Full Name
hydroxyacylglutathione hydrolaseprovided by HGNC
Primary source
HGNC:HGNC:4805
See related
Ensembl:ENSG00000063854 MIM:138760
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
GLO2; GLX2; GLXII; HAGH1
Summary
The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
Expression
Broad expression in kidney (RPKM 47.0), liver (RPKM 45.0) and 25 other tissues See more
Orthologs

Genomic context

See HAGH in Genome Data Viewer
Location:
16p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (1809103..1827194, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1859104..1877195, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene nucleotide binding protein 2 Neighboring gene insulin like growth factor binding protein acid labile subunit Neighboring gene fumarylacetoacetate hydrolase domain containing 1 Neighboring gene meiosis specific with OB-fold Neighboring gene long intergenic non-protein coding RNA 254

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

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hydroxyacylglutathione hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
hydroxyacylglutathione hydrolase activity TAS
Traceable Author Statement
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
glutathione biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione IEA
Inferred from Electronic Annotation
more info
 
pyruvate metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
hydroxyacylglutathione hydrolase, mitochondrial
Names
glyoxalase II
hydroxyacylglutathione hydroxylase
NP_001035517.1
NP_001273178.1
NP_005317.2
XP_011520771.1
XP_011520772.1
XP_016878684.1
XP_024306017.1

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.

Genomic

  1. NG_023249.1 RefSeqGene

    Range
    5001..23097
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001040427.2NP_001035517.1  hydroxyacylglutathione hydrolase, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001035517.1

    Status: REVIEWED

    Source sequence(s)
    AY576804, BC000840, BC002627, BM982247, BU176541, DB502986, DR006636
    Consensus CDS
    CCDS32366.1
    UniProtKB/Swiss-Prot
    Q16775
    Related
    ENSP00000380511.2, ENST00000397353.6
    Conserved Domains (1) summary
    cl25711
    Location:1256
    HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
  2. NM_001286249.2NP_001273178.1  hydroxyacylglutathione hydrolase, mitochondrial isoform 3 precursor

    See identical proteins and their annotated locations for NP_001273178.1

    Status: REVIEWED

    Source sequence(s)
    AC012180, AK298174, BC002627, BM982247
    Consensus CDS
    CCDS66900.1
    UniProtKB/Swiss-Prot
    Q16775
    Related
    ENSP00000406552.2, ENST00000455446.6
    Conserved Domains (1) summary
    cd07723
    Location:52148
    hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain
  3. NM_001363912.1NP_001350841.1  hydroxyacylglutathione hydrolase, mitochondrial isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC012180
    Conserved Domains (1) summary
    cl25711
    Location:49275
    HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
  4. NM_001363914.1NP_001350843.1  hydroxyacylglutathione hydrolase, mitochondrial isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC012180
    Consensus CDS
    CCDS86494.1
    Conserved Domains (1) summary
    cl25711
    Location:1227
    HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
  5. NM_005326.6NP_005317.2  hydroxyacylglutathione hydrolase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_005317.2

    Status: REVIEWED

    Source sequence(s)
    AC012180, BC002627, BM982247, DR006636
    Consensus CDS
    CCDS10447.2
    UniProtKB/Swiss-Prot
    Q16775
    Related
    ENSP00000380514.3, ENST00000397356.7
    Conserved Domains (3) summary
    PLN02469
    Location:49304
    PLN02469; hydroxyacylglutathione hydrolase
    pfam16123
    Location:222302
    HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
    cd07723
    Location:52221
    hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    1809103..1827194 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522469.3XP_011520771.1  hydroxyacylglutathione hydrolase, mitochondrial isoform X1

    Conserved Domains (1) summary
    cl25711
    Location:49275
    HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
  2. XM_011522470.3XP_011520772.1  hydroxyacylglutathione hydrolase, mitochondrial isoform X3

    See identical proteins and their annotated locations for XP_011520772.1

    UniProtKB/Swiss-Prot
    Q16775
    Conserved Domains (1) summary
    cd07723
    Location:52148
    hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain
  3. XM_024450249.1XP_024306017.1  hydroxyacylglutathione hydrolase, mitochondrial isoform X4

    Conserved Domains (1) summary
    cd07723
    Location:4100
    hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain
  4. XM_017023195.2XP_016878684.1  hydroxyacylglutathione hydrolase, mitochondrial isoform X2

    UniProtKB/TrEMBL
    H3BPQ4
    Related
    ENSP00000455422.1, ENST00000566709.5
    Conserved Domains (1) summary
    cl25711
    Location:1227
    HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
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