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Aliases for HGS Gene

Aliases for HGS Gene

  • Hepatocyte Growth Factor-Regulated Tyrosine Kinase Substrate 2 3 5
  • Protein Pp110 3 4
  • HRS 3 4
  • Human Growth Factor-Regulated Tyrosine Kinase Substrate 3

External Ids for HGS Gene

Previous GeneCards Identifiers for HGS Gene

  • GC17U990142
  • GC17P080211
  • GC17P080346
  • GC17P077261
  • GC17P079651
  • GC17P075097

Summaries for HGS Gene

Entrez Gene Summary for HGS Gene

  • The protein encoded by this gene regulates endosomal sorting and plays a critical role in the recycling and degradation of membrane receptors. The encoded protein sorts monoubiquitinated membrane proteins into the multivesicular body, targeting these proteins for lysosome-dependent degradation. [provided by RefSeq, Dec 2010]

GeneCards Summary for HGS Gene

HGS (Hepatocyte Growth Factor-Regulated Tyrosine Kinase Substrate) is a Protein Coding gene. Diseases associated with HGS include Berylliosis. Among its related pathways are Clathrin derived vesicle budding and Remodeling of Adherens Junctions. GO annotations related to this gene include protein domain specific binding. An important paralog of this gene is WDFY1.

UniProtKB/Swiss-Prot for HGS Gene

  • Involved in intracellular signal transduction mediated by cytokines and growth factors. When associated with STAM, it suppresses DNA signaling upon stimulation by IL-2 and GM-CSF. Could be a direct effector of PI3-kinase in vesicular pathway via early endosomes and may regulate trafficking to early and late endosomes by recruiting clathrin. May concentrate ubiquitinated receptors within clathrin-coated regions. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with STAM (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes. May contribute to the efficient recruitment of SMADs to the activin receptor complex. Involved in receptor recycling via its association with the CART complex, a multiprotein complex required for efficient transferrin receptor recycling but not for EGFR degradation.

Gene Wiki entry for HGS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HGS Gene

Genomics for HGS Gene

Regulatory Elements for HGS Gene

Enhancers for HGS Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HGS on UCSC Golden Path with GeneCards custom track

Promoters for HGS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HGS on UCSC Golden Path with GeneCards custom track

Genomic Location for HGS Gene

Chromosome:
17
Start:
81,683,326 bp from pter
End:
81,703,138 bp from pter
Size:
19,813 bases
Orientation:
Plus strand

Genomic View for HGS Gene

Genes around HGS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HGS Gene

Proteins for HGS Gene

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

    Protein Symbol:
    O14964-HGS_HUMAN
    Recommended name:
    Hepatocyte growth factor-regulated tyrosine kinase substrate
    Protein Accession:
    O14964
    Secondary Accessions:
    • Q9NR36

    Protein attributes for HGS Gene

    Size:
    777 amino acids
    Molecular mass:
    86192 Da
    Quaternary structure:
    • Interacts with TRAK1. Interacts with TRAK2 (By similarity). Interacts with TRAK1. Component of the ESCRT-0 complex composed of STAM or STAM2 and HGS. Part of a complex at least composed of HSG, STAM2 (or probably STAM) and EPS15. Interacts with STAM. Interacts with STAM2. Interacts with EPS15; the interaction is direct, calcium-dependent and inhibited by SNAP25. Interacts with NF2; the interaction is direct. Interacts with ubiquitin; the interaction is direct. Interacts with VPS37C. Interacts with SMAD1, SMAD2 and SMAD3. Interacts with TSG101; the interaction mediates the association with the ESCRT-I complex. Interacts with SNAP25; the interaction is direct and decreases with addition of increasing concentrations of free calcium. Interacts with SNX1; the interaction is direct. Component of a 550 kDa membrane complex at least composed of HGS and SNX1 but excluding EGFR. Component of the CART complex, at least composed of ACTN4, HGS/HRS, MYO5B and TRIM3. Interacts (via UIM domain) with UBQLN1 (via ubiquitin-like domain) (By similarity). Interacts with ARRDC3 (PubMed:23208550). Identified in a complex containing at least ARRDC4, V2R and HGS (PubMed:23236378).

    Three dimensional structures from OCA and Proteopedia for HGS Gene

    Alternative splice isoforms for HGS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HGS Gene

Proteomics data for HGS Gene at MOPED

Post-translational modifications for HGS Gene

  • Phosphorylated on Tyr-334. A minor site of phosphorylation on Tyr-329 is detected (By similarity). Phosphorylation occurs in response to EGF, IL-2, GM-CSF and HGF.
  • Ubiquitinated by ITCH.
  • Ubiquitination at Lys 86, Lys 93, Lys 97, Lys 126, Lys 136, Lys 192, Lys 202, Lys 207, Lys 251, Lys 473, Lys 513, and Lys 551
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HGS Gene

Domains & Families for HGS Gene

Gene Families for HGS Gene

Suggested Antigen Peptide Sequences for HGS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14964

UniProtKB/Swiss-Prot:

HGS_HUMAN :
  • Has a double-sided UIM that can bind 2 ubiquitin molecules, one on each side of the helix.
  • Contains 1 FYVE-type zinc finger.
Domain:
  • Has a double-sided UIM that can bind 2 ubiquitin molecules, one on each side of the helix.
  • The FYVE-type zinc finger domain mediates interactions with phosphatidylinositol 3-phosphate in membranes of early endosomes and penetrates bilayers. The FYVE domain insertion into PtdIns(3)P-enriched membranes is substantially increased in acidic conditions.
  • Contains 1 UIM (ubiquitin-interacting motif) domain.
  • Contains 1 VHS domain.
Similarity:
  • Contains 1 FYVE-type zinc finger.
genes like me logo Genes that share domains with HGS: view

Function for HGS Gene

Molecular function for HGS Gene

GENATLAS Biochemistry:
hepatocyte growth factor-regulated tyrosine kinase substrate,inhibiting the cytokine cell growth function induced by STAM
UniProtKB/Swiss-Prot Function:
Involved in intracellular signal transduction mediated by cytokines and growth factors. When associated with STAM, it suppresses DNA signaling upon stimulation by IL-2 and GM-CSF. Could be a direct effector of PI3-kinase in vesicular pathway via early endosomes and may regulate trafficking to early and late endosomes by recruiting clathrin. May concentrate ubiquitinated receptors within clathrin-coated regions. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with STAM (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes. May contribute to the efficient recruitment of SMADs to the activin receptor complex. Involved in receptor recycling via its association with the CART complex, a multiprotein complex required for efficient transferrin receptor recycling but not for EGFR degradation.

Gene Ontology (GO) - Molecular Function for HGS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with HGS: view
genes like me logo Genes that share phenotypes with HGS: view

Animal Models for HGS Gene

MGI Knock Outs for HGS:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HGS Gene

Localization for HGS Gene

Subcellular locations from UniProtKB/Swiss-Prot for HGS Gene

Cytoplasm. Early endosome membrane; Peripheral membrane protein; Cytoplasmic side. Endosome, multivesicular body membrane; Peripheral membrane protein. Note=Colocalizes with UBQLN1 in ubiquitin-rich cytoplasmic aggregates that are not endocytic compartments. {ECO:0000269 PubMed:16159959}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HGS Gene COMPARTMENTS Subcellular localization image for HGS gene
Compartment Confidence
cytosol 5
endosome 5
extracellular 5
golgi apparatus 2
lysosome 2
nucleus 2
plasma membrane 2
vacuole 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for HGS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IDA 15611048
GO:0033565 ESCRT-0 complex TAS 20588296
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with HGS: view

Pathways & Interactions for HGS Gene

genes like me logo Genes that share pathways with HGS: view

SIGNOR curated interactions for HGS Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for HGS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006622 protein targeting to lysosome IMP 18767904
GO:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0016197 endosomal transport TAS --
GO:0036258 multivesicular body assembly TAS 20588296
genes like me logo Genes that share ontologies with HGS: view

Drugs & Compounds for HGS Gene

(7) Drugs for HGS Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citric Acid Nutra Agonist, Activator, Target 1044

(7) Additional Compounds for HGS Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HGS: view

Transcripts for HGS Gene

Unigene Clusters for HGS Gene

Hepatocyte growth factor-regulated tyrosine kinase substrate:
Representative Sequences:

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

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a ·
SP1: - - - - -
SP2: - - - - -
SP3: - - - -
SP4: -
SP5: - - -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 18b · 18c ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b · 24c · 24d
SP1:
SP2: - - -
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10: -
SP11:

Relevant External Links for HGS Gene

GeneLoc Exon Structure for
HGS
ECgene alternative splicing isoforms for
HGS

Expression for HGS Gene

mRNA expression in normal human tissues for HGS Gene

Protein differential expression in normal tissues from HIPED for HGS Gene

This gene is overexpressed in Heart (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HGS Gene



SOURCE GeneReport for Unigene cluster for HGS Gene Hs.661056

mRNA Expression by UniProt/SwissProt for HGS Gene

O14964-HGS_HUMAN
Tissue specificity: Ubiquitous expression in adult and fetal tissues with higher expression in testis and peripheral blood leukocytes.
genes like me logo Genes that share expression patterns with HGS: view

Protein tissue co-expression partners for HGS Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for HGS Gene

Orthologs for HGS Gene

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

Orthologs for HGS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HGS 35
  • 87.77 (n)
  • 93.28 (a)
HGS 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HGS 35
  • 88.06 (n)
  • 92.78 (a)
HGS 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hgs 35
  • 86.98 (n)
  • 93.56 (a)
Hgs 16
Hgs 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HGS 35
  • 98.96 (n)
  • 99.32 (a)
HGS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hgs 35
  • 86.81 (n)
  • 93.51 (a)
oppossum
(Monodelphis domestica)
Mammalia HGS 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 42 (a)
ManyToMany
chicken
(Gallus gallus)
Aves HGS 35
  • 79.29 (n)
  • 83.53 (a)
HGS 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HGS 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hgs 35
  • 73.61 (n)
  • 82.12 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68804 35
zebrafish
(Danio rerio)
Actinopterygii hgs 35
  • 78.62 (n)
  • 86.46 (a)
wufi34f05 35
hgs 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hrs 37
  • 48 (a)
Hrs 35
  • 58.71 (n)
  • 50.25 (a)
Hrs 36
  • 39 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008887 35
  • 61.05 (n)
  • 55.49 (a)
worm
(Caenorhabditis elegans)
Secernentea hgrs-1 35
  • 46.77 (n)
  • 41.04 (a)
hgrs-1 36
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS27 36
  • 18 (a)
OneToMany
VPS27 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToOne
Species with no ortholog for HGS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for HGS Gene

ENSEMBL:
Gene Tree for HGS (if available)
TreeFam:
Gene Tree for HGS (if available)

Paralogs for HGS Gene

Paralogs for HGS Gene

(3) SIMAP similar genes for HGS Gene using alignment to 8 proteins:

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

Variants for HGS Gene

Sequence variations from dbSNP and Humsavar for HGS Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs34868130 - 81,695,806(+) GGCGA(A/C/G)TCTGA reference, missense
VAR_054154 -
rs56058441 - 81,701,105(+) ACATC(G/T)CGGGG reference, missense
rs4074682 -- 81,690,763(+) GGGGG(C/T)TCTAC intron-variant
rs7208144 -- 81,687,778(+) GTCCC(A/G)ACCTG intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv26223 CNV Gain+Loss 19812545
nsv828128 CNV Loss 20364138
nsv909052 CNV Loss 21882294
nsv428351 CNV Gain 18775914
dgv3330n71 CNV Loss 21882294
dgv3332n71 CNV Loss 21882294
nsv470620 CNV Loss 18288195
nsv909109 CNV Loss 21882294
dgv3333n71 CNV Loss 21882294
nsv909116 CNV Loss 21882294
dgv3334n71 CNV Loss 21882294
dgv3335n71 CNV Loss 21882294
dgv3336n71 CNV Loss 21882294

Variation tolerance for HGS Gene

Residual Variation Intolerance Score: 6.52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.24; 52.60% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for HGS Gene

Disorders for HGS Gene

MalaCards: The human disease database

(1) MalaCards diseases for HGS Gene - From: DISEASES

Disorder Aliases PubMed IDs
berylliosis
  • beryllium poisoning
- elite association - COSMIC cancer census association via MalaCards
Search HGS in MalaCards View complete list of genes associated with diseases

Relevant External Links for HGS

Genetic Association Database (GAD)
HGS
Human Genome Epidemiology (HuGE) Navigator
HGS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HGS
genes like me logo Genes that share disorders with HGS: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HGS Gene

Publications for HGS Gene

  1. Hrs is associated with STAM, a signal-transducing adaptor molecule. Its suppressive effect on cytokine-induced cell growth. (PMID: 9407053) Asao H. … Sugamura K. (J. Biol. Chem. 1997) 2 3 4 23 67
  2. Human Hrs, a tyrosine kinase substrate in growth factor-stimulated cells: cDNA cloning and mapping of the gene to chromosome 17. (PMID: 9630564) Lu L. … Kitamura N. (Gene 1998) 2 3 23
  3. VHS domains of ESCRT-0 cooperate in high-avidity binding to polyubiquitinated cargo. (PMID: 20150893) Ren X. … Hurley J.H. (EMBO J. 2010) 3 23
  4. Proteomic analysis reveals Hrs ubiquitin-interacting motif-mediated ubiquitin signaling in multiple cellular processes. (PMID: 19019082) Pridgeon J.W. … Chin L.S. (FEBS J. 2009) 3 23
  5. Hrs regulates the endocytic sorting of the fibroblast growth factor receptor 2b. (PMID: 19362549) Belleudi F. … Torrisi M.R. (Exp. Cell Res. 2009) 3 23

Products for HGS Gene

  • Addgene plasmids for HGS

Sources for HGS Gene

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