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Aliases for HAGHL Gene

Aliases for HAGHL Gene

  • Hydroxyacylglutathione Hydrolase Like 2 3 5
  • Hydroxyacyl Glutathione Hydrolase-Like 2
  • EC 3.1.2.- 4

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
  • GC16P000877
  • GC16P000895
  • GC16P000915
  • GC16P000936
  • GC16P000956

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 for HAGHL Gene

  • Hydrolase acting on ester bonds.

Additional gene information for HAGHL Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAGHL Gene

Genomics for HAGHL Gene

GeneHancer (GH) Regulatory Elements for HAGHL Gene

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
GH16I000726 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 567.6 +0.9 887 3.5 HDGF HNRNPUL1 CLOCK SIN3A ZNF2 ZNF48 ETS1 GTF3C2 POLR2B GLIS2 HAGHL CCDC78 ENSG00000261505 ENSG00000260051 WDR90 NARFL TELO2 WASH4P AXIN1 UNKL
GH16I000725 Enhancer 0.5 ENCODE 550.8 -1.2 -1150 0.1 ZFHX2 GLIS2 POLR2A ZNF692 ZEB2 ZEB1 EGR2 HAGHL CCDC78 PIR42074
GH16I001308 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19 +583.8 583818 5.2 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 UBE2I LOC102723815 WDR90 CRAMP1 TELO2 ENSG00000261505 E4F1 TSC2 ENSG00000260051 IFT140
GH16I000718 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.4 -6.2 -6173 3.6 HDGF PKNOX1 SIN3A ZNF2 ZBTB7B POLR2B ZNF207 ZNF143 DEK SP3 FAM173A PIR42074 LUC7L IFT140 UBE2I CRAMP1 WDR24 ENSG00000268836 NARFL UNKL
GH16I001271 Enhancer 1.1 ENCODE 9.7 +544.9 544890 1.6 PKNOX1 SMAD1 SIN3A FEZF1 ZNF2 ZNF213 ZNF302 ZNF416 KLF13 SP3 CRAMP1 WDR90 IFT140 TELO2 ENSG00000260646 TSC2 ENSG00000261505 E4F1 WDR24 ENSG00000260051
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HAGHL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HAGHL gene promoter:

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)

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=Translation N-terminally shortened.; 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 isoforms=2, 3, 434

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

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

Gene Ontology (GO) - Molecular Function for HAGHL Gene

GO ID Qualified GO term Evidence PubMed IDs
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

miRNA for HAGHL Gene

miRTarBase miRNAs that target HAGHL

Clone Products

No data available for Phenotypes From GWAS Catalog , 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
extracellular 3
cytosol 3
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

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 0

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

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

Transcripts for HAGHL Gene

Unigene Clusters for HAGHL Gene

Hydroxyacylglutathione hydrolase-like:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
HAGHL

Expression for HAGHL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for HAGHL Gene



NURSA nuclear receptor signaling pathways regulating expression of HAGHL Gene:

HAGHL

SOURCE GeneReport for Unigene cluster for HAGHL Gene:

Hs.124015

Evidence on tissue expression from TISSUES for HAGHL Gene

  • Nervous system(4.5)
  • Eye(4)
  • Skin(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 33 34
  • 89.01 (n)
chimpanzee
(Pan troglodytes)
Mammalia HAGHL 33 34
  • 87.12 (n)
cow
(Bos Taurus)
Mammalia HAGHL 33 34
  • 86.33 (n)
rat
(Rattus norvegicus)
Mammalia Haghl 33
  • 81.72 (n)
mouse
(Mus musculus)
Mammalia Haghl 33 16 34
  • 80.99 (n)
oppossum
(Monodelphis domestica)
Mammalia HAGHL 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves HAGHL 33 34
  • 71.52 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia haghl 33
  • 64.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4365 34
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y17G7B.3 34
  • 40 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLO2 34
  • 26 (a)
ManyToMany
GLO4 34
  • 26 (a)
ManyToMany
Species where no ortholog for HAGHL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for HAGHL Gene

Paralogs for HAGHL Gene

genes like me logo Genes that share paralogs with HAGHL: view

Variants for HAGHL Gene

Sequence variations from dbSNP and Humsavar for HAGHL Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs138669350 uncertain-significance, likely-benign, not specified, not provided, Myopathy, centronuclear, 4 725,236(+) C/T upstream_transcript_variant
rs144396385 uncertain-significance, Myopathy, centronuclear, 4 725,237(+) G/A upstream_transcript_variant
rs145274257 uncertain-significance, benign, not specified, Myopathy, centronuclear, 4 725,464(+) C/A upstream_transcript_variant
rs150363147 uncertain-significance, Myopathy, centronuclear, 4 725,861(+) T/C upstream_transcript_variant
rs200825023 uncertain-significance, Myopathy, centronuclear, 4 725,257(+) G/A upstream_transcript_variant

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

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

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 58
  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 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for HAGHL Gene

Sources for HAGHL Gene

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