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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HS1BP3 Gene

protein-coding   GIFtS: 53
GCID: GC02M020760

HCLS1 Binding Protein 3

Alzheimer's & Parkinson's Diseases Congress
  See 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)
About This Section

Aliases
HCLS1 Binding Protein 31 2     HS1-BP32
HSP1BP-32 3     HCLS1-Binding Protein 32
HS1-Binding Protein 32 3     FLJ142495
ETM22 5     

External Ids:    HGNC: 249791   Entrez Gene: 643422   Ensembl: ENSG000001189607   OMIM: 6093595   UniProtKB: Q53T593   

Export aliases for HS1BP3 gene to outside databases

Previous GC identifers: GC02M020740 GC02M020682 GC02M020574


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HS1BP3 Gene:
The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be
involved in lymphocyte activation. (provided by RefSeq, Jul 2008)

GeneCards Summary for HS1BP3 Gene: 
HS1BP3 (HCLS1 binding protein 3) is a protein-coding gene. Diseases associated with HS1BP3 include bell's palsy, and dystonia musculorum deformans. GO annotations related to this gene include phosphatidylinositol binding.

UniProtKB/Swiss-Prot: H1BP3_HUMAN, Q53T59
Function: May be a modulator of IL-2 signaling (By similarity)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_015926.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HS1BP3 gene promoter:
         Spz1   SREBP-1c   MyoD   AP-2gamma   Cdc5   SREBP-1b   SREBP-1a   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHS1BP3 promoter sequence
   Search SABiosciences Chromatin IP Primers for HS1BP3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HS1BP3


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

Entrez Gene cytogenetic band: 2p24.1   Ensembl cytogenetic band:  2p24.1   HGNC cytogenetic band: 2p24.1

HS1BP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HS1BP3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M020760:  view genomic region     (about GC identifiers)

Start:
20,760,208 bp from pter      End:
20,850,864 bp from pter
Size:
90,657 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: H1BP3_HUMAN, Q53T59 (See protein sequence)
Recommended Name: HCLS1-binding protein 3  
Size: 392 amino acids; 42780 Da
Subunit: Binds HCLS1. Interacts with the SH3 domain of HCLS1 in vitro (By similarity)
Secondary accessions: B2RAW2 D6W529 Q86VC2 Q8N367

Explore the universe of human proteins at neXtProt for HS1BP3: NX_Q53T59

Explore proteomics data for HS1BP3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q53T59

  • HS1BP3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HS1BP3 Protein Expression
    REFSEQ proteins: NP_071905.3  
    ENSEMBL proteins: 
     ENSP00000389960   ENSP00000387364   ENSP00000305193   ENSP00000392203   ENSP00000397546  
     ENSP00000384984   ENSP00000385788  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR001683 Phox

    Graphical View of Domain Structure for InterPro Entry Q53T59

    ProtoNet protein and cluster: Q53T59

    1 Blocks protein domain: IPB001683 Phox-like

    UniProtKB/Swiss-Prot: H1BP3_HUMAN, Q53T59
    Similarity: Contains 1 PX (phox homology) domain


    HS1BP3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: H1BP3_HUMAN, Q53T59
    Function: May be a modulator of IL-2 signaling (By similarity)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0035091phosphatidylinositol binding IEA--
         
    HS1BP3 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HS1BP3

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for HS1BP3 (Q53T593 ENSP000003051934) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HCLS1P143173, ENSP000003201764I2D: score=3 STRING: ENSP00000320176
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007154cell communication IEA--

    HS1BP3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HS1BP3 (H1BP3)

    Search CenterWatch for drugs/clinical trials and news about HS1BP3 / H1BP3

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HS1BP3 gene: 
    NM_022460.3  

    Unigene Cluster for HS1BP3:

    HCLS1 binding protein 3
    Hs.531785  [show with all ESTs]
    Unigene Representative Sequence: BC050636
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000446825 ENST00000415264 ENST00000304031(uc002rdw.1) ENST00000458740
    ENST00000445102 ENST00000402541(uc002rdx.3) ENST00000406618(uc002rdy.3)


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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate HS1BP3:
    hsa-miR-124 hsa-miR-506 hsa-miR-3153
    SwitchGear 3'UTR luciferase reporter plasmidHS1BP3 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Additional mRNA sequence: 

    AK024311.1 AK123411.1 AK314383.1 BC038847.1 BC050636.1 

    7 DOTS entries:

    DT.212322  DT.205801  DT.100726519  DT.95205905  DT.95293116  DT.95221633  DT.95118499 

    24/126 AceView cDNA sequences (see all 126):

    BQ224426 BC038847 AI476172 BX345340 NM_022460 CR596701 BF340358 AA913385 
    NM_106552 AU134068 BQ673411 BM473190 BU158263 BF197459 AI333295 AI023400 
    BQ773417 BI256646 BF590885 CA419233 BQ073210 BF589826 BU186041 BX354596 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for HS1BP3 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
    SP1:                          -           -                       -               
    SP2:              -     -     -           -                                       
    SP3:              -           -           -                                       
    SP4:                          -                                                   
    SP5:                    -     -     -     -     -     -           -               


    ECgene alternative splicing isoforms for HS1BP3

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HS1BP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTCTCTCAG
    HS1BP3 Expression
    About this image


    See HS1BP3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HS1BP3

    SOURCE GeneReport for Unigene cluster: Hs.531785
        SABiosciences Custom PCR Arrays for HS1BP3
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    In Situ
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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

    This gene was present in the common ancestor of chordates.

    Orthologs for HS1BP3 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hs1bp31 , 5 HCLS1 binding protein 31, 5 82.82(n)1
    77.98(a)1
      12 (3.85 cM)5
    582401  NM_021429.31  NP_067404.21 
     83134335 
    chicken
    (Gallus gallus)
    Aves HS1BP31 HCLS1 binding protein 3 60.87(n)
    56.42(a)
      421966  XM_419977.3  XP_419977.3 
    lizard
    (Anolis carolinensis)
    Reptilia HS1BP36
    HCLS1 binding protein 3
    52(a)
    1 ↔ 1
    1(155443889-155487551)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.327922 Xenopus laevis transcribed sequence with weak similarity more 73.93(n)    CA790454.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5532231 HCLS1 binding protein 3 51.28(n)
    42.31(a)
      553223  XM_002665244.2  XP_002665290.1 


    ENSEMBL Gene Tree for HS1BP3 (if available)
    TreeFam Gene Tree for HS1BP3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/897 SNPs in HS1BP3 are shown (see all 897)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs67393571,2
    C,F,A--20817070(+) CGGGTG/ATGAAG 1 -- ds50013Minor allele frequency- A:0.07NA CSA WA 122
    rs732350631,2
    C,F--20817089(+) CAAATG/AGGTGG 1 -- ds50013Minor allele frequency- A:0.03WA NA 240
    rs1932245121,2
    --20817099(+) GAGCCA/GGTGCT 1 -- ds50010--------
    rs344052901,2
    C--20817188(+) AGTCAG/CCTCTC 1 -- ds50015Minor allele frequency- C:0.16NA WA EA 362
    rs1382956161,2
    --20817260(+) AGGGCC/GCCACA 1 -- ds50010--------
    rs350016061,2
    C--20817261(+) GGGCGC/GCACAG 1 -- ds50015Minor allele frequency- G:0.16NA WA EA 362
    rs1143499371,2
    C,F--20817279(+) GGGACG/ATGATC 1 -- ds50011Minor allele frequency- A:0.02WA 118
    rs732350641,2
    C--20817317(+) GGCACG/AGGCCA 1 -- ds50012Minor allele frequency- A:0.06WA 120
    rs357559271,2
    C--20817362(+) CACCCG/ACACCA 1 -- ds50016Minor allele frequency- A:0.17NA WA EA 364
    rs584497301,2
    C--20817393(+) TTTGGCTTTGG/-
            
    TGTCT
    1 -- cds11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for HS1BP3 (20760208 - 20850864 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for HS1BP3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv272408CNV Insertion20981092
    nsv508828CNV Insertion20534489
    dgv4069n71CNV Loss21882294
    dgv56n68CNV Loss17160897
    nsv527901CNV Loss19592680
    nsv517472CNV Loss19592680
    nsv873725CNV Loss21882294


    Human Gene Mutation Database (HGMD): HS1BP3
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609359    OMIM disorders: --

    5 diseases for HS1BP3:    About MalaCards
    bell's palsy    dystonia musculorum deformans    essential tremor    tremor
    parkinson's disease

    2 diseases from the University of Copenhagen DISEASES database for HS1BP3:
    Essential tremor     Dystonia musculorum deformans

    HS1BP3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): HS1BP3
    Human Genome Epidemiology (HuGE) Navigator: HS1BP3 (1 document)

    Export disorders for HS1BP3 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)
    About This Section

    PubMed articles for HS1BP3 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with HS1BP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A variant in the HS1-BP3 gene is associated with fami lial essential tremor. (PubMed id 15699368)1, 3, 9 Higgins J.J....Rooney J.P. (2005)
    2. DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease. (PubMed id 19524641)1, 4 Keeling B.H....Farrer M.J. (2009)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Isolation and characterization of a novel HS1 SH3 domain binding protein, HS1BP3. (PubMed id 10590261)1, 3 Takemoto Y....Hashimoto Y. (1999)
    5. VCP phosphorylation-dependent interaction partners pre vent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (2013)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Human HS1BP3 induces cell apoptosis and activates AP- 1. (PubMed id 21699750)1 Shi T....Ma D. (2011)
    8. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64342 HGNC: 24979 AceView: FLJ14249 Ensembl:ENSG00000118960 euGenes: HUgn64342
    ECgene: HS1BP3 H-InvDB: HS1BP3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HS1BP3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HS1BP3 gene:
    Search GeneIP for patents involving HS1BP3

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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