Aliases for HAGHL Gene

Aliases for HAGHL Gene

  • Hydroxyacylglutathione Hydrolase Like 2 3 5
  • Hydroxyacylglutathione Hydrolase-Like Protein 3 4
  • Hydroxyacyl Glutathione Hydrolase-Like 2
  • GLO2-Like/ RJD12 3
  • EC 3.1.2.- 4
  • MGC2605 2
  • HAGHL 5

External Ids for HAGHL Gene

Previous GeneCards Identifiers for HAGHL Gene

  • GC16U990171
  • GC16P000716
  • GC16P000717
  • GC16P000777
  • GC16P000701
  • GC16P000780
  • GC16P000781
  • GC16P000782
  • GC16P000789
  • GC16P000807
  • GC16P000832
  • GC16P000851
  • GC16P000835
  • GC16P000860
  • GC16P001057
  • GC16P001097
  • GC16P001132
  • GC16P001254
  • GC16P000877
  • GC16P000895
  • GC16P000915
  • GC16P000936
  • GC16P000956
  • GC16P000982
  • GC16P001003
  • GC16P001023

Summaries for HAGHL Gene

GeneCards Summary for HAGHL Gene

HAGHL (Hydroxyacylglutathione Hydrolase Like) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include hydrolase activity and hydroxyacylglutathione hydrolase activity. An important paralog of this gene is HAGH.

UniProtKB/Swiss-Prot Summary for HAGHL Gene

Additional gene information for HAGHL Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HAGHL Gene

Genomics for HAGHL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HAGHL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J000726 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 617.5 +0.9 864 3.6 HNRNPL PRDM10 ZNF629 KDM1A ZNF692 RCOR2 BACH1 TARDBP LARP7 MTA2 HAGHL CCDC78 lnc-CCDC78-1 ENSG00000261505 ENSG00000260051 WDR90 CIAO3 TELO2 WASH4P AXIN1
GH16J000727 Promoter 0.6 Ensembl 600.7 -1.7 -1736 0.4 RBFOX2 POLR2A SNRNP70 ZEB1 HIC1 ZEB2 CCDC78 HAGHL MN297336 lnc-CCDC78-1 TELO2 WASH4P UNKL ENSG00000269482 ENSG00000268836 CRAMP1
GH16J000725 Enhancer 0.5 ENCODE 600.7 -1.2 -1150 0.1 ZNF692 POLR2A ZEB1 ZFHX2 EGR2 GLIS2 ZEB2 CCDC78 HAGHL MN297336 lnc-CCDC78-1 ANTKMT
GH16J001308 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 19 +583.6 583635 5.5 ZNF221 ARHGAP35 SP1 HNRNPL CREB1 PRDM10 ZNF629 TFE3 ZNF512 LEF1 UBE2I ENSG00000274751 WDR90 CRAMP1 TELO2 ENSG00000261505 E4F1 TSC2 ENSG00000260051 IFT140
GH16J000713 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 -8.8 -8805 8.9 RNF2 SP1 ZBTB33 HNRNPL PRDM10 RFX1 SIX5 IKZF1 CTCF ZNF692 ANTKMT METRN lnc-FAM173A-1 CRAMP1 UBE2I TELO2 IFT140 WDR90 UNKL LUC7L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HAGHL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HAGHL

Top Transcription factor binding sites by QIAGEN in the HAGHL gene promoter:
  • AML1a
  • USF-1
  • USF1
  • XBP-1
  • Zic1
  • Zic3

Genomic Locations for HAGHL Gene

Genomic Locations for HAGHL Gene
chr16:726,936-735,525
(GRCh38/hg38)
Size:
8,590 bases
Orientation:
Plus strand
chr16:776,936-785,525
(GRCh37/hg19)
Size:
8,590 bases
Orientation:
Plus strand

Genomic View for HAGHL Gene

Genes around HAGHL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAGHL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAGHL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAGHL Gene

Proteins for HAGHL Gene

  • Protein details for HAGHL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PII5-HAGHL_HUMAN
    Recommended name:
    Hydroxyacylglutathione hydrolase-like protein
    Protein Accession:
    Q6PII5
    Secondary Accessions:
    • A6NCC4
    • D3DU64
    • Q59FX8
    • Q96BZ3
    • Q96NR5
    • Q96S11
    • Q9BT45

    Protein attributes for HAGHL Gene

    Size:
    290 amino acids
    Molecular mass:
    31557 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK61250.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAD92568.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAD92568.1; Type=Miscellaneous discrepancy; Note=Sequence of unknown origin at the C-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for HAGHL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HAGHL Gene

Post-translational modifications for HAGHL Gene

  • Ubiquitination at Lys34
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HAGHL Gene

Domains & Families for HAGHL Gene

Gene Families for HAGHL Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HAGHL Gene

Suggested Antigen Peptide Sequences for HAGHL Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58840, highly similar to Homo sapiens hydroxyacylglutathione hydrolase-like (HAGHL), transcript variant 2, mRNA (B4DED4_HUMAN)
  • Hydroxyacylglutathione hydrolase-like protein (HAGHL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6PII5

UniProtKB/Swiss-Prot:

HAGHL_HUMAN :
  • Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
Family:
  • Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
genes like me logo Genes that share domains with HAGHL: view

Function for HAGHL Gene

Molecular function for HAGHL Gene

UniProtKB/Swiss-Prot Function:
Hydrolase acting on ester bonds.

Enzyme Numbers (IUBMB) for HAGHL Gene

Phenotypes From GWAS Catalog for HAGHL Gene

Gene Ontology (GO) - Molecular Function for HAGHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004416 hydroxyacylglutathione hydrolase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with HAGHL: view
genes like me logo Genes that share phenotypes with HAGHL: view

Animal Model Products

CRISPR Products

miRNA for HAGHL Gene

miRTarBase miRNAs that target HAGHL

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAGHL

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HAGHL Gene

Localization for HAGHL Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HAGHL gene
Compartment Confidence
cytosol 3
extracellular 2
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for HAGHL Gene

Pathways & Interactions for HAGHL Gene

PathCards logo

SuperPathways for HAGHL Gene

No Data Available

Gene Ontology (GO) - Biological Process for HAGHL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019243 methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione IEA --
genes like me logo Genes that share ontologies with HAGHL: view

No data available for Pathways by source and SIGNOR curated interactions for HAGHL Gene

Drugs & Compounds for HAGHL Gene

(3) Drugs for HAGHL Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Glutathione Approved, Investigational Nutra 0
D-Lactic acid Experimental Pharma Agonist, Full agonist 0

(1) Additional Compounds for HAGHL Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
S-Lactoylglutathione
  • S-D-Lactoylglutathione
  • (R)-S-Lactoylglutathione
  • D-Lactoylglutathione
  • delta-Lactoylglutathione
  • N-(N-L-gamma-Glutamyl-S-(2-hydroxy-1-oxopropyl)-L-cysteinyl)-glycine
25138-66-3
genes like me logo Genes that share compounds with HAGHL: view

Transcripts for HAGHL Gene

mRNA/cDNA for HAGHL Gene

7 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAGHL

Alternative Splicing Database (ASD) splice patterns (SP) for HAGHL Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c ·
SP1: - - - -
SP2: - - - - - - - -
SP3: - - -
SP4: - - - - - -
SP5: - -
SP6: -
SP7: - - - - - - - - -
SP8: - - -
SP9: -
SP10: -
SP11:

ExUns: 9d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for HAGHL Gene

GeneLoc Exon Structure for
HAGHL

Expression for HAGHL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HAGHL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HAGHL Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x4.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HAGHL Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HAGHL

SOURCE GeneReport for Unigene cluster for HAGHL Gene:

Hs.124015

Evidence on tissue expression from TISSUES for HAGHL Gene

  • Nervous system(4.6)
  • Skin(4)
  • Eye(4)
genes like me logo Genes that share expression patterns with HAGHL: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HAGHL Gene

Orthologs for HAGHL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HAGHL Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia HAGHL 30 31
  • 89.01 (n)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia HAGHL 30 31
  • 87.12 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HAGHL 30 31
  • 86.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Haghl 30
  • 81.72 (n)
Mouse
(Mus musculus)
Mammalia Haghl 30 17 31
  • 80.99 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HAGHL 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HAGHL 30 31
  • 71.52 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia haghl 30
  • 64.61 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG4365 31
  • 32 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y17G7B.3 31
  • 40 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLO4 31
  • 26 (a)
ManyToMany
GLO2 31
  • 26 (a)
ManyToMany
Species where no ortholog for HAGHL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for HAGHL Gene

ENSEMBL:
Gene Tree for HAGHL (if available)
TreeFam:
Gene Tree for HAGHL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HAGHL: view image

Paralogs for HAGHL Gene

Paralogs for HAGHL Gene

(2) SIMAP similar genes for HAGHL Gene using alignment to 10 proteins:

  • HAGHL_HUMAN
  • B4DED4_HUMAN
  • H3BN70_HUMAN
  • H3BQ57_HUMAN
  • H3BR74_HUMAN
  • H3BT20_HUMAN
  • H3BU61_HUMAN
  • I3L1B7_HUMAN
  • I3L1W0_HUMAN
  • I3L3H5_HUMAN
genes like me logo Genes that share paralogs with HAGHL: view

Variants for HAGHL Gene

Additional dbSNP identifiers (rs#s) for HAGHL Gene

Structural Variations from Database of Genomic Variants (DGV) for HAGHL Gene

Variant ID Type Subtype PubMed ID
dgv4825n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
nsv1160325 CNV duplication 26073780
nsv1160326 CNV duplication 26073780
nsv457311 CNV loss 19166990
nsv471063 CNV loss 18288195
nsv471065 CNV gain 18288195
nsv516590 CNV loss 19592680
nsv526903 CNV loss 19592680
nsv571012 CNV loss 21841781
nsv571022 CNV loss 21841781
nsv9321 CNV gain+loss 18304495
nsv952898 CNV deletion 24416366

Variation tolerance for HAGHL Gene

Gene Damage Index Score: 1.44; 28.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HAGHL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAGHL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HAGHL Gene

Disorders for HAGHL Gene

Additional Disease Information for HAGHL

No disorders were found for HAGHL Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HAGHL Gene

Publications for HAGHL Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  3. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels RJ … Higgs DR (Human molecular genetics 2001) 3 4
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3

Products for HAGHL Gene

Sources for HAGHL Gene