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HGS Gene

protein-coding   GIFtS: 70
GCID: GC17P079651

Hepatocyte Growth Factor-Regulated Tyrosine Kinase Substrate

  See HGS-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Hepatocyte Growth Factor-Regulated Tyrosine Kinase Substrate1 2
HRS2 3 5
Protein Pp1102 3
Human Growth Factor-Regulated Tyrosine Kinase Substrate2
Hrs3

External Ids:    HGNC: 48971   Entrez Gene: 91462   Ensembl: ENSG000001853597   OMIM: 6043755   UniProtKB: O149643   

Export aliases for HGS gene to outside databases

Previous GC identifers: GC17U990142 GC17P080211 GC17P080346 GC17P077261 GC17P075097


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hypertonia, and pelger-huet anomaly. GO annotations related to this gene include protein domain specific binding. An important paralog of this gene is WDFY2.

UniProtKB/Swiss-Prot: HGS_HUMAN, O14964
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 Wiki entry for HGS Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HGS gene promoter:
         AML1a   SREBP-1c   Lmo2   AP-4   SREBP-1b   C/EBPalpha   CP2   SREBP-1a   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHGS promoter sequence
   Search Chromatin IP Primers for HGS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HGS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25

HGS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HGS gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P079651:  view genomic region     (about GC identifiers)

Start:
79,650,356 bp from pter      End:
79,670,168 bp from pter
Size:
19,813 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: HGS_HUMAN, O14964 (See protein sequence)
Recommended Name: Hepatocyte growth factor-regulated tyrosine kinase substrate  
Size: 777 amino acids; 86192 Da
Subunit: 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
5 PDB 3D structures from and Proteopedia for HGS:
2D3G (3D)        3F1I (3D)        3OBQ (3D)        3ZYQ (3D)        4AVX (3D)    
Secondary accessions: Q9NR36
Alternative splicing: 2 isoforms:  O14964-1   O14964-2   (Dubious isoform produced through aberrant splice sites)

Explore the universe of human proteins at neXtProt for HGS: NX_O14964

Explore proteomics data for HGS at MOPED

Post-translational modifications: 

  • 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 HGF1
  • Ubiquitinated by ITCH1
  • Ubiquitination2 at Lys86, Lys93, Lys97, Lys126, Lys136, Lys192, Lys202, Lys207, Lys251, Lys473,
                                 Lys513, Lys551
  • Modification sites at PhosphoSitePlus

  • See HGS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004703.1  
    ENSEMBL proteins: 
     ENSP00000459685   ENSP00000331201   ENSP00000458987   ENSP00000458603   ENSP00000458775  
     ENSP00000460130   ENSP00000458789   ENSP00000460165  
    Reactome Protein details: O14964

    HGS Human Recombinant Protein Products:

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    Novus Biologicals HGS Proteins
    Novus Biologicals HGS Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HGS

     
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    antibodies-online proteins for HGS (5 products) 

     
    antibodies-online peptides for HGS

    HGS Antibody Products:

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    antibodies-online antibodies for HGS (21 products) 

    HGS Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HGS
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    antibodies-online kits for HGS 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZFYVE: Zinc fingers, FYVE domain containing

    Selected InterPro protein domains (see all 11):
     IPR002014 VHS
     IPR018205 VHS_subgr
     IPR024641 HRS_helical
     IPR000306 Znf_FYVE
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry O14964

    ProtoNet protein and cluster: O14964

    2 Blocks protein domains:
    IPB000306 Zn-finger
    IPB002014 VHS


    UniProtKB/Swiss-Prot: HGS_HUMAN, O14964
    Domain: Has a double-sided UIM that can bind 2 ubiquitin molecules, one on each side of the helix
    Domain: 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
    Similarity: Contains 1 FYVE-type zinc finger
    Similarity: Contains 1 UIM (ubiquitin-interacting motif) repeat
    Similarity: Contains 1 VHS domain


    Find genes that share domains with HGS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HGS_HUMAN, O14964
    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

         Genatlas biochemistry entry for HGS:
    hepatocyte growth factor-regulated tyrosine kinase substrate,inhibiting the cytokine cell growth function induced
    by STAM

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10861283
    GO:0019904protein domain specific binding IPI11984006
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with HGS           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for HGS:
     Decreased Tat-dependent transc  Decreased viability  Increased cell death HMECs cel 

         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Hgs):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  embryogenesis 
     growth/size/body  mortality/aging  nervous system  reproductive system 

    Find genes that share phenotypes with HGS           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Hgstm1Sor for HGS

       genOway: Develop your customized and physiologically relevant rodent model for HGS

    miRNA
    Products:
        
    miRTarBase miRNAs that target HGS:
    hsa-let-7b-5p (MIRT052221), hsa-mir-423-3p (MIRT042598), hsa-mir-877-3p (MIRT037009), hsa-mir-296-5p (MIRT004900)

    Block miRNA regulation of human, mouse, rat HGS using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate HGS:
    hsa-miR-142-3p hsa-miR-3919 hsa-miR-4255
    SwitchGear 3'UTR luciferase reporter plasmidHGS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HGS
    Predesigned siRNA for gene silencing in human, mouse, rat HGS

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: HGS (NM_004712)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HGS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HGS
    Addgene plasmids for HGS 

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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12130) for HGS 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HGS_HUMAN, O14964: Cytoplasm. Early endosome membrane; Peripheral membrane protein; Cytoplasmic side. Endosome,
    multivesicular body membrane; Peripheral membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    cytosol4
    lysosome2
    nucleus2
    plasma membrane2
    vacuole2
    extracellular1
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005768endosome IDA15611048
    GO:0005769early endosome IDA10861283
    GO:0005829cytosol TAS--
    GO:0016020membrane ----

    Find genes that share ontologies with HGS           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HGS About   (see all 15)  
    See pathways by source

    SuperPathContained pathways About
    1Signaling by FGFR
    Signaling by EGFR0.83
    Signaling by EGFR in Cancer0.82
    2Budding and maturation of HIV virion
    Endosomal Sorting Complex Required For Transport (ESCRT)0.64
    3Signaling by GPCR
    Signal Transduction0.58
    4Clathrin dependent protein traffic
    wtCFTR and delta508 CFTR traffic Generic schema norm and CF 0.37
    5Clathrin derived vesicle budding
    Membrane Trafficking0.32


    Find genes that share SuperPaths with HGS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for HGS
        Remodeling of Adherens Junctions

    2 GeneGo (Thomson Reuters) Pathways for HGS
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Delta508-CFTR traffic / Sorting endosome formation in CF

    4 BioSystems Pathways for HGS
        TGF-beta Receptor Signaling Pathway
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
    Internalization of ErbB1
    CXCR4-mediated signaling events

    2 Reactome Pathways for HGS
        Endosomal Sorting Complex Required For Transport (ESCRT)
    EGFR downregulation


    2 Kegg Pathways  (Kegg details for HGS):
        Endocytosis
    Phagosome

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HGS: 
              Adherens Junctions in human mouse rat
              Autophagy in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HGS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HGS (O149641, 2, 3 ENSP000003312014) via UniProtKB, MINT, STRING, and/or I2D (see all 302)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG482, 3, ENSP000003448184MINT-50269 MINT-50283 MINT-50270 MINT-19113 MINT-50265 MINT-50292 MINT-50293 MINT-50284 I2D: score=4 STRING: ENSP00000344818
    EHMT2Q96KQ72, 3, ENSP000003646874MINT-66600 I2D: score=5 STRING: ENSP00000364687
    TSG101Q998162, 3, ENSP000002519684MINT-50310 MINT-50312 MINT-68474 MINT-50311 MINT-50313 I2D: score=8 STRING: ENSP00000251968
    ENSG00000206376Q96KQ72, 3MINT-66600 I2D: score=5 
    ENSG00000232045Q96KQ72, 3MINT-66600 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0007165signal transduction TAS9407053
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0008285negative regulation of cell proliferation TAS9407053
    GO:0008333endosome to lysosome transport IEA--

    Find genes that share ontologies with HGS           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HGS

    1 DrugBank Compound for HGS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Citric Acid-- 77-92-9target--10592235

    Selected Novoseek inferred chemical compound relationships for HGS gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    propanil 94 51 15113837 (8), 20422006 (6), 9407053 (5), 12551915 (3) (see all 19)
    phosphatidylinositol 3-phosphate 80 7 11493665 (3), 10889197 (1), 14618335 (1), 11456498 (1)
    tyrosine 74.9 139 17101784 (4), 9630564 (2), 11003664 (2), 12180964 (2) (see all 81)
    gefitinib 55.5 4 16869787 (1), 16204931 (1), 18379356 (1)
    erlotinib 52.1 1 16869787 (1)
    mannose 6-phosphate 50 1 18031739 (1)
    wortmannin 40.2 2 11003664 (1), 11532964 (1)
    phosphotyrosine 29.7 1 7819083 (1)
    proline 28.4 3 10889197 (1), 17182674 (1)
    phosphoinositide 27.8 1 11456498 (1)



    Find genes that share compounds with HGS           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HGS gene: 
    NM_004712.4  

    Unigene Cluster for HGS:

    Hepatocyte growth factor-regulated tyrosine kinase substrate
    Hs.661056  [show with all ESTs]
    Unigene Representative Sequence: NM_004712
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000571518 ENST00000329138(uc002kbg.3) ENST00000576393 ENST00000576498(uc010wus.2)
    ENST00000572392 ENST00000577012 ENST00000576087 ENST00000573080 ENST00000575058
    ENST00000571237 ENST00000571885 ENST00000571647 ENST00000573949 ENST00000570355
    ENST00000575078 ENST00000573320 ENST00000570652
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidHGS 3' UTR sequence
    Inhib. RNA
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    Flow Cytometry
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    Additional mRNA sequence: 

    AF260566.1 AK294190.1 AK303800.1 BC003565.1 BT009754.1 D84064.1 U43895.1 

    Selected DOTS entries (see all 31):

    DT.215617  DT.99958034  DT.100804007  DT.120892426  DT.97821159  DT.65288039  DT.116243  DT.120892488 
    DT.91801095  DT.97786986  DT.100029956  DT.120892515  DT.91768738  DT.95165972  DT.97860828  DT.100029957 
    DT.100785819  DT.40110140  DT.91768724  DT.100009326  DT.100785821  DT.120892411  DT.120892534  DT.120892559 

    Selected AceView cDNA sequences (see all 715):

    BQ681619 BU542197 AW247183 AA613007 BQ671509 BM449481 BQ277600 CD107255 
    AW249230 BQ718416 BX338889 AI201897 BE279049 CA455421 BM823438 CA308525 
    BE408682 AW629684 BT009754 BG423374 BM797033 BM971991 BI222755 AI659038 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HGS (see all 11)    About this scheme

    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:        -     -           -                                                                                                                                 

    ExUns: 18b · 18c ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b · 24c · 24d
    SP1:                                                                                    
    SP2:        -     -     -                                                               
    SP3:                                                                                    
    SP4:                                                                                    
    SP5:                                                                                    


    ECgene alternative splicing isoforms for HGS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    HGS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HGS Expression
    About this image


    HGS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Thalamus
             Septum   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Peripheral blood-derived hematopoietic stem cells
    HGS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HGS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.661056

    UniProtKB/Swiss-Prot: HGS_HUMAN, O14964
    Tissue specificity: Ubiquitous expression in adult and fetal tissues with higher expression in testis and
    peripheral blood leukocytes

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HGS: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for HGS gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hgs1 , 5 HGF-regulated tyrosine kinase substrate1, 5 86.98(n)1
    93.56(a)1
      11 (84.16 cM)5
    152391  NM_001159328.11  NP_001152800.11 
     1204676355 
    chicken
    (Gallus gallus)
    Aves HGS1 hepatocyte growth factor-regulated tyrosine kinase more 79.29(n)
    83.53(a)
      428675  XM_426233.4  XP_426233.3 
    lizard
    (Anolis carolinensis)
    Reptilia HGS6
    hepatocyte growth factor-regulated tyrosine kinase...
    82(a)
    1 ↔ 1
    2(102386977-102399205)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC688042 hypothetical protein MGC68804 76.5(n)    BC045274.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi34f052 wufi34f05 80.91(n)   334175  BC056769.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hrs1 , 3 endosome to lysosome transport3
    Hepatocyte growth factor regulated tyrosine kinase more1
    48(a)3
    58.71(n)1
    50.25(a)1
      23A33
    334581  NM_080360.51  NP_525099.31 
    worm
    (Caenorhabditis elegans)
    Secernentea hgrs-11 hgrs-1 46.77(n)
    41.04(a)
      177617  NM_068974.6  NP_501375.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS27(YNR006W)4 Endosomal protein that forms a complex with Hse1p; more   --   14(636986-638854) 855739  NP_014403.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HGS gene
    WDFY22  WDFY12  
    3 SIMAP similar genes for HGS using alignment to 8 protein entries:     HGS_HUMAN (see all proteins):
    GGA3    TOM1    GGA1

    Find genes that share paralogs with HGS           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HGS (see all 577)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1139222271,2
    C--79652968(+) CAGACT/-TTTTT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1489334531,2
    C--79652984(+) AAGACA/GGGGCC 1 -- int10--------
    rs80733351,2
    C,F--79653063(+) tcaaaC/Tgatcg 1 -- int10--------
    rs1863458871,2
    --79653064(+) CAAACG/TATCGT 1 -- int10--------
    rs782312861,2
    C,F--79653079(+) CCTCAA/GCCTCC 1 -- int12Minor allele frequency- G:0.04NA EA 240
    rs1124160311,2
    F--79653104(+) TACAGG/ACATTC 1 -- int12Minor allele frequency- A:0.50CSA 4
    rs1900730941,2
    --79653124(+) CCCGGA/CTGATT 1 -- int10--------
    rs1162192631,2
    C,F--79653129(+) CTGATT/GTTTTG 1 -- int11Minor allele frequency- G:0.08WA 118
    rs1120491341,2
    C,F--79653198(+) TCAAGG/CAATCC 1 -- int12Minor allele frequency- C:0.50NA CSA 6
    rs665083041,2
    C,F--79653206(+) TCCTCC/ATGCCT 1 -- int13Minor allele frequency- A:0.50NA CSA 6

    HapMap Linkage Disequilibrium report for HGS (79650356 - 79670168 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HGS (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3335n71CNV Loss21882294
    nsv909116CNV Loss21882294
    dgv3330n71CNV Loss21882294
    dgv3333n71CNV Loss21882294
    nsv828128CNV Loss20364138
    nsv909109CNV Loss21882294
    nsv909052CNV Loss21882294
    dgv3334n71CNV Loss21882294
    dgv3332n71CNV Loss21882294
    nsv470620CNV Loss18288195

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 604375    OMIM disorders: --

    3 diseases for HGS:    
    About MalaCards
    hypertonia    pelger-huet anomaly    neurofibromatosis

    1 disease from the University of Copenhagen DISEASES database for HGS:
    Pelger-Huet anomaly

    Find genes that share disorders with HGS           About GenesLikeMe

    9 Novoseek inferred disease relationships for HGS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurofibromatosis type 2 54.2 2 20054405 (2)
    nsclc 15.4 2 15182824 (1), 16204931 (1)
    tumors 10.3 9 18716056 (1), 14695211 (1), 12372820 (1), 20054405 (1) (see all 7)
    cancer lung 6.03 2 16869787 (1), 16361567 (1)
    leukemia 0 1 17182674 (1)
    breast cancer 0 1 7905269 (1)
    metastasis 0 2 16361567 (1), 16832584 (1)
    carcinoma 0 1 16832584 (1)
    prostate cancer 0 1 12447997 (1)

    Genetic Association Database (GAD): HGS
    Human Genome Epidemiology (HuGE) Navigator: HGS (3 documents)

    Export disorders for HGS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HGS gene, integrated from 10 sources (see all 239):
    (articles sorted by number of sources associating them with HGS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hrs is associated with STAM, a signal-transducing adaptor molecule. Its suppressive effect on cytokine-induced cell growth. (PubMed id 9407053)1, 2, 3, 9 Asao H.... Sugamura K. (J. Biol. Chem. 1997)
    2. Human Hrs, a tyrosine kinase substrate in growth factor-stimulated cells: cDNA cloning and mapping of the gene to chromosome 17. (PubMed id 9630564)1, 2, 3, 9 Lu L.... Kitamura N. (Gene 1998)
    3. STAM and Hrs are subunits of a multivalent ubiquitin-binding complex on early endosomes. (PubMed id 12551915)1, 2, 9 Bache K.G.... Stenmark H. (J. Biol. Chem. 2003)
    4. The E3 ubiquitin ligase AIP4 mediates ubiquitination and sorting of the G protein-coupled receptor CXCR4. (PubMed id 14602072)1, 2, 9 Marchese A....Benovic J.L. (Dev. Cell 2003)
    5. HIV Gag mimics the Tsg101-recruiting activity of the human Hrs protein. (PubMed id 12900394)1, 2, 9 Pornillos O.... Sundquist W.I. (J. Cell Biol. 2003)
    6. CART: an Hrs/actinin-4/BERP/myosin V protein complex required for efficient receptor recycling. (PubMed id 15772161)1, 2, 9 Yan Q.... Bean A.J. (Mol. Biol. Cell 2005)
    7. Hypertonia-associated protein Trak1 is a novel regulator of endosome- to-lysosome trafficking. (PubMed id 18675823)1, 2 Webber E.... Chin L.S. (J. Mol. Biol. 2008)
    8. Double-sided ubiquitin binding of Hrs-UIM in endosomal protein sorting. (PubMed id 16462748)1, 2 Hirano S....Wakatsuki S. (Nat. Struct. Mol. Biol. 2006)
    9. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    10. Identification of human VPS37C, a component of endosomal sorting complex required for transport-I important for viral budding. (PubMed id 15509564)1, 2 Eastman S.W.... Bieniasz P.D. (J. Biol. Chem. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9146 HGNC: 4897 AceView: MRPL12andHGS Ensembl:ENSG00000185359 euGenes: HUgn9146
    ECgene: HGS Kegg: 9146 H-InvDB: HGS

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HGS Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HGS Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for HGS gene:
    Search GeneIP for patents involving HGS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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