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

HIP1R Gene

protein-coding   GIFtS: 64
GCID: GC12P123319

Huntingtin Interacting Protein 1 Related

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
Huntingtin Interacting Protein 1 Related1 2     HIP32
HIP122 3 5     ILWEQ2
Huntingtin-Interacting Protein 122 3     Huntingtin Interacting Protein 122
HIP-122 3     Huntingtin-Interacting Protein 1-Related Protein2
HIP1-Related Protein2 3     KIAA06553

External Ids:    HGNC: 184151   Entrez Gene: 90262   Ensembl: ENSG000001307877   OMIM: 6056135   UniProtKB: O751463   

Export aliases for HIP1R gene to outside databases

Previous GC identifers: GC12P122029 GC12M122922 GC12P123127 GC12P121757 GC12P121844 GC07M021782


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

GeneCards Summary for HIP1R Gene: 
HIP1R (huntingtin interacting protein 1 related) is a protein-coding gene. Diseases associated with HIP1R include parkinson's disease, and neuronitis, and among its related super-pathways are Clathrin-dependent protein traffic and Golgi Associated Vesicle Biogenesis. GO annotations related to this gene include actin binding and phosphatidylinositol binding. An important paralog of this gene is TLN2.

UniProtKB/Swiss-Prot: HIP1R_HUMAN, O75146
Function: Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin
cytoskeleton. Binds 3-phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell
survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis

Gene Wiki entry for HIP1R 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009755.19  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HIP1R gene promoter:
         AML1a   HSF1 (long)   NF-E2 p45   E4BP4   AREB6   S8   HSF1short   Cart-1   NF-E2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHIP1R promoter sequence
   Search SABiosciences Chromatin IP Primers for HIP1R

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HIP1R


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

Entrez Gene cytogenetic band: 12q24   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24

HIP1R Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HIP1R gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P123319:  view genomic region     (about GC identifiers)

Start:
123,319,000 bp from pter      End:
123,347,507 bp from pter
Size:
28,508 bases      Orientation:
plus 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: HIP1R_HUMAN, O75146 (See protein sequence)
Recommended Name: Huntingtin-interacting protein 1-related protein  
Size: 1068 amino acids; 119388 Da
Subunit: Interacts with actin. Does not interact with huntingtin (By similarity). Interacts with CLTB and HIP1.
Homodimer. Homodimerization promotes actin binding
Subcellular location: Cytoplasm, perinuclear region. Endomembrane system. Cytoplasmic vesicle, clathrin-coated
vesicle membrane. Note=Membrane-associated protein, mainly localized at the endocytic compartments and in the
perinuclear region
Sequence caution: Sequence=BAA31630.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for HIP1R:
1R0D (3D)    
Secondary accessions: A6NHQ6 Q9UED9

Explore the universe of human proteins at neXtProt for HIP1R: NX_O75146

Explore proteomics data for HIP1R at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75146

  • HIP1R Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HIP1R Protein Expression
    REFSEQ proteins: NP_003950.1  
    ENSEMBL proteins: 
     ENSP00000253083   ENSP00000446236  
    Reactome Protein details: O75146
    Human Recombinant Protein Products for HIP1R: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005856cytoskeleton IEA--
    GO:0005905coated pit NAS--
    GO:0030136clathrin-coated vesicle IDA11889126
    GO:0030665clathrin-coated vesicle membrane IEA--
    GO:0048471perinuclear region of cytoplasm IEA--

    HIP1R for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR002558 ILWEQ_dom
     IPR011417 ANTH_dom
     IPR008942 ENTH_VHS
     IPR013809 Epsin-like_N

    Graphical View of Domain Structure for InterPro Entry O75146

    ProtoNet protein and cluster: O75146

    3 Blocks protein domains:
    IPB001026 Epsin N-terminal homology
    IPB002558 I/LWEQ domain
    IPB013809 Epsin-like


    UniProtKB/Swiss-Prot: HIP1R_HUMAN, O75146
    Domain: Binds F-actin via the talin-like I/LWEQ domain
    Similarity: Belongs to the SLA2 family
    Similarity: Contains 1 ENTH (epsin N-terminal homology) domain
    Similarity: Contains 1 I/LWEQ domain


    HIP1R 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: HIP1R_HUMAN, O75146
    Function: Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin
    cytoskeleton. Binds 3-phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell
    survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis

         Genatlas biochemistry entry for HIP1R:
    Huntingtin interacting protein 1 related,ubiquitously expressed

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding NAS--
    GO:0005515protein binding IPI11889126
    GO:0005543phospholipid binding ----
    GO:0035091phosphatidylinositol binding IDA14732715
         
    HIP1R for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HIP1R:
     Decreased p24 protein expressi 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hip1r):
     growth/size  normal  skeleton 

    HIP1R for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hip1rtm1Tsr for HIP1R

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HIP1R 
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    Inhib. RNA
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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

    SuperPaths for HIP1R About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Clathrin-dependent protein traffic
    Clathrin-dependent protein traffic0.66
    wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)0.35
    Transport Clathrin-coated vesicle cycle0.66
    2Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    3Membrane Trafficking
    Membrane Trafficking0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for HIP1R
        Clathrin-dependent protein traffic


    2 GeneGo (Thomson Reuters) Pathways for HIP1R
        wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
    Transport Clathrin-coated vesicle cycle

    4        Reactome Pathways for HIP1R
        Membrane Trafficking
    Clathrin derived vesicle budding
    Golgi Associated Vesicle Biogenesis
    trans-Golgi Network Vesicle Budding



    HIP1R for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HIP1R

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/833 Interacting proteins for HIP1R (O751462, 3 ENSP000002530834) via UniProtKB, MINT, STRING, and/or I2D (see all 833)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTR2P611602, 3MINT-7945693 MINT-7947479 I2D: score=2 
    ACTBP607092, 3MINT-7945693 MINT-7947479 I2D: score=1 
    CCT3P493682, 3MINT-7945693 MINT-7947479 I2D: score=1 
    DIAPH1O606102, 3MINT-7945693 MINT-7947479 I2D: score=1 
    PICALMQ134922, 3MINT-7945693 MINT-7947479 I2D: score=1 
    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:0006898receptor-mediated endocytosis IMP11889126

    HIP1R 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

    HIP1R for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HIP1R

    1 Novoseek inferred chemical compound relationship for HIP1R gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inositol 49.6 3 14732715 (2), 17452370 (1)

    Search CenterWatch for drugs/clinical trials and news about HIP1R

    (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 HIP1R gene: 
    NM_003959.1  

    Unigene Cluster for HIP1R:

    Huntingtin interacting protein 1 related
    Hs.524815  [show with all ESTs]
    Unigene Representative Sequence: NM_003959
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000535831(uc001udg.1 uc001udi.1) ENST00000253083(uc001udj.1 uc001udk.1)
    ENST00000452196(uc001udh.3) ENST00000536772 ENST00000536847 ENST00000541712
    ENST00000536617 ENST00000538236 ENST00000535012 ENST00000537322

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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate HIP1R:
    hsa-miR-137 hsa-miR-198 hsa-miR-212 hsa-miR-1207-5p hsa-miR-24 hsa-miR-132 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidHIP1R 3' UTR sequence
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    Additional mRNA sequence: 

    AB013384.1 AB014555.1 AK024062.1 AK090537.1 AK295389.1 AK298387.1 AK307446.1 AK308538.1 
    BC011354.2 BC038981.1 BC067085.1 

    12 DOTS entries:

    DT.448446  DT.100820999  DT.100028365  DT.95263021  DT.40214470  DT.100700951  DT.121039022  DT.95173608 
    DT.100719331  DT.92433204  DT.215143  DT.95173611 

    1 AceView cDNA sequence:

    NM_003959 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for HIP1R (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b · 19c ^ 20 ^ 21 ^
    SP1:        -     -                             -                                                                                                               
    SP2:                                            -                                                                                                               
    SP3:                                                                                                                                      -     -               
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b · 27c ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33a · 33b · 33c ^ 34
    SP1:                                                                                                                        
    SP2:                                                                                                                        
    SP3:  -                                                                                                                     
    SP4:                                                  -                                                                     
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for HIP1R

    (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

    HIP1R expression in normal human tissues (normalized intensities)      HIP1R embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTCCTGCT
    HIP1R Expression
    About this image


    HIP1R expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/37 selected tissues (see all 37) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Epithelium
             oral mucosa ; squamous epithelial cells   
     
     Uterus (Reproductive System)    fully expand to see all 4 entries
             uterus, post-menopause ; glandular cells   

    See HIP1R Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HIP1R

    SOURCE GeneReport for Unigene cluster: Hs.524815

    UniProtKB/Swiss-Prot: HIP1R_HUMAN, O75146
    Tissue specificity: Brain, heart, kidney, pancreas, and liver, but not in lung or placenta

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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 animals and fungi.

    Orthologs for HIP1R gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hip1r1 , 5 huntingtin interacting protein 1 related1, 5 86.89(n)1
    90.92(a)1
      5 (63.30 cM)5
    298161  NM_145070.31  NP_659507.31 
     1239736285 
    chicken
    (Gallus gallus)
    Aves HIP1R1 huntingtin interacting protein 1 related 77.63(n)
    78.69(a)
      416836  NM_001030657.1  NP_001025828.1 
    lizard
    (Anolis carolinensis)
    Reptilia HIP1R6
    Uncharacterized protein
    77(a)
    1 ↔ 1
    LGb(2079168-2118677)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.167022 Transcribed sequence with moderate similarity to protein more 76.97(n)    BX746626.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1587841 zgc:158784 64.24(n)
    63.29(a)
      562138  NM_001083565.1  NP_001077034.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hip16
    Huntingtin interacting protein 1
    27(a)
    1 → many
    3L(12761532-12766673)
    worm
    (Caenorhabditis elegans)
    Secernentea hipr-16
    tag-1386
    (see all 3)
    Protein TAG-138
    (see all 3)
    32(a)
    31(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    III(8720201-8725334)
    I(12934767-12937252)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SLA2(YNL243W)4 Transmembrane actin-binding protein involved in membrane more   --   14(188051-190957) 855478  NP_014156.1 


    ENSEMBL Gene Tree for HIP1R (if available)
    TreeFam Gene Tree for HIP1R (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HIP1R gene
    TLN22  HIP12  MESDC12  TLN12  
    1 SIMAP similar gene for HIP1R using alignment to 3 protein entries:     HIP1R_HUMAN (see all proteins):
    HIP1

    HIP1R for paralogs           About GeneDecksing



    (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

    10/863 SNPs in HIP1R are shown (see all 863)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1425717461,2
    C--123318040(+) CCAGTC/TGCTAA 1 -- us2k10--------
    rs1919505631,2
    --123318041(+) CAGTTA/GCTAAT 1 -- us2k10--------
    rs1505454121,2
    --123318049(+) AATGGA/GAAGTC 1 -- us2k10--------
    rs1399070031,2
    --123318076(+) TAGACA/CTACAG 1 -- us2k10--------
    rs1180637221,2
    F--123318187(+) AGTACC/TGCAAA 1 -- us2k11Minor allele frequency- T:0.03EA 120
    rs1157910131,2
    C,F--123318268(+) TTAGCC/TCAGTG 1 -- us2k11Minor allele frequency- T:0.08WA 118
    rs1434289261,2
    C--123318300(+) AGTACA/GTATCA 1 -- us2k10--------
    rs8973881,2
    C,F,O,A,H--123318392(-) TCACTC/GCACCA 1 -- us2k120Minor allele frequency- G:0.03NA EA NS WA CSA 1041
    rs1835857871,2
    --123318400(+) TGACAA/GGAGAG 1 -- us2k10--------
    rs1464593851,2
    C--123318455(+) TGGAGA/GGTGAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HIP1R (123319000 - 123347507 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for HIP1R:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1005186CNV Deletion20482838
    esv2746501CNV Deletion23290073
    esv1123331CNV Deletion17803354
    dgv1498n71CNV Loss21882294
    dgv1497n71CNV Loss21882294
    nsv52669CNV Loss16902084
    nsv52581CNV Loss16902084
    nsv899571CNV Loss21882294
    nsv517200CNV Loss19592680
    nsv7239OTHER Inversion18451855

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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: 605613    OMIM disorders: --

    2 diseases for HIP1R:    About MalaCards
    parkinson's disease    neuronitis


    HIP1R for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): HIP1R
    Human Genome Epidemiology (HuGE) Navigator: HIP1R (3 documents)

    Export disorders for HIP1R 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 HIP1R gene, integrated from 9 sources (see all 41):
    (articles sorted by number of sources associating them with HIP1R)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural definition of the F-actin-binding THATCH domain from HIP1R. (PubMed id 16415883)1, 2, 3 Brett T.J.... Fremont D.H. (2006)
    2. HIP1 and HIP1r stabilize receptor tyrosine kinases and bind 3- phosphoinositides via epsin N-terminal homology domains. (PubMed id 14732715)1, 2, 9 Hyun T.S.... Ross T.S. (2004)
    3. Huntingtin-interacting protein 1 (Hip1) and Hip1-related protein (Hip1R) bind the conserved sequence of clathrin light chains and thereby influence clathrin assembly in vitro and actin distribution in vivo. (PubMed id 15533940)1, 2, 9 Chen C.-Y. and Brodsky F.M. (2005)
    4. Cloning, expression analysis, and chromosomal localization of HIP1R, an isolog of huntingtin interacting protein (HIP1). (PubMed id 9852681)1, 2, 9 Seki N.... Saito T. (1998)
    5. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide associat ion studies. (PubMed id 21292315)1, 4  ....Wood N.W. (2011)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    7. HIP1 and HIP12 display differential binding to F-actin, AP2, and clathrin. Identification of a novel interaction with clathrin light chain. (PubMed id 11889126)1, 2 Legendre-Guillemin V.... McPherson P.S. (2002)
    8. HIP12 is a non-proapoptotic member of a gene family including HIP1, an interacting protein with huntingtin. (PubMed id 11063258)1, 2 Chopra V.S.... Hayden M.R. (2000)
    9. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2 Ishikawa K.... Ohara O. (1998)
    10. HIP1R interacts with a member of Bcl-2 family, BCL2L10, and induces BAK-dependent cell death. (PubMed id 19255499)1, 9 Kim J.H....Bae J. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 9026 HGNC: 18415 AceView: HIP1R Ensembl:ENSG00000130787 euGenes: HUgn9026
    ECgene: HIP1R H-InvDB: HIP1R

    (According to HUGE)
    About This Section
    HUGE: KIAA0655

    (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 HIP1R 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 HIP1R gene:
    Search GeneIP for patents involving HIP1R

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



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    About This Section

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