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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

Summaries for HAGHL Gene

GeneCards Summary for HAGHL Gene

HAGHL (Hydroxyacylglutathione Hydrolase Like) is a Protein Coding gene. 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

Regulatory Elements for HAGHL Gene

Enhancers for HAGHL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H001308 1.4 ENCODE dbSUPER 19.1 +583.8 583819 5 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 MCM3 NFYC WDR90 CRAMP1 ENSG00000261505 TELO2 UBE2I E4F1 TSC2 ENSG00000260051 JMJD8 RHOT2
GH16H000726 1 ENCODE 17.6 +0.9 887 3 HNRNPUL1 HDGF SIN3A ZNF2 ETS1 GTF3C2 GLIS2 ELK1 ZNF143 SP3 ENSG00000261505 AXIN1 ENSG00000260051 WDR90 TELO2 ENSG00000260954 WASH4P UNKL RHOT2 CRAMP1
GH16H000718 1.3 ENCODE dbSUPER 10.3 -6.2 -6173 3 HDGF PKNOX1 SIN3A ZNF2 ZBTB7B ZNF143 ZNF207 DEK SP3 MXD4 CRAMP1 IFT140 LUC7L UBE2I WDR90 TELO2 UNKL WDR24 ENSG00000268836 ENSG00000269482
GH16H001271 1.1 ENCODE 9.7 +544.9 544891 1 PKNOX1 SIN3A FEZF1 ZNF2 ZNF302 ZNF416 SP3 REST ZNF662 ZNF592 CRAMP1 WDR90 TELO2 IFT140 ENSG00000261505 TSC2 E4F1 WDR24 ENSG00000260646 UBE2I
GH16H000974 0.9 ENCODE dbSUPER 11.1 +249.1 249132 3 BCOR SUZ12 ZSCAN4 TSC22D4 ZMYM3 ZNF148 POLR2A RBAK GLIS1 TARDBP ENSG00000260807 CRAMP1 WDR90 TELO2 ENSG00000260646 LMF1 SOX8 ENSG00000228779 LMF1-AS1 UBE2I
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HAGHL on UCSC Golden Path with GeneCards custom track

Promoters for HAGHL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082237 164 601 HDGF SIN3A ZNF2 GTF3C2 ELK1 ZNF143 SP3 SMARCB1 ZSCAN16 MYNN
ENSR00000279388 1364 1401 HDGF SIN3A ZNF2 ETS1 GLIS2 SP3 SMARCB1 MBD2 ZSCAN16 GLIS1

Genomic Location for HAGHL Gene

Chromosome:
16
Start:
726,936 bp from pter
End:
735,525 bp from pter
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=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 posLast=3434
  • 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

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

CRISPR Products

miRNA for HAGHL Gene

miRTarBase miRNAs that target HAGHL

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HAGHL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HAGHL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Primer Products

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 Sequence Context AA Info Type
rs200531006 Likely benign 725,161(+) CACAG(A/G/T)GCTGG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs886038379 Likely benign 725,544(-) TGGAG(C/T)TGCGA intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon, utr-variant-5-prime
rs138669350 Uncertain significance 725,236(+) ACTCA(C/T)GCCGC nc-transcript-variant, upstream-variant-2KB, reference, missense, splice-donor-variant
rs12446058 Benign 725,947(+) AGCAC(A/C/G)CTGGG intron-variant, upstream-variant-2KB
rs12448311 Benign 725,954(+) TGGGG(A/C)CCCAC intron-variant, upstream-variant-2KB

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)

Relevant External Links 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

Relevant External Links for HAGHL

Human Genome Epidemiology (HuGE) Navigator
HAGHL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  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 60
  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 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for HAGHL Gene

Sources for HAGHL Gene

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