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

HIP1 Gene

protein-coding   GIFtS: 65
GCID: GC07M075162

Huntingtin Interacting Protein 1

  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 11 2
Huntingtin-Interacting Protein I2 3
HIP-I2 3
ILWEQ2
Huntingtin-Interacting Protein 12
HIP-13

External Ids:    HGNC: 49131   Entrez Gene: 30922   Ensembl: ENSG000001279467   OMIM: 6017675   UniProtKB: O002913   

Export aliases for HIP1 gene to outside databases

Previous GC identifers: GC07M073699 GC07M074762 GC07M074776 GC07M074777 GC07M074808 GC07M075001 GC07M070249


(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 HIP1 Gene:
The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and
protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this
interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants.
(provided by RefSeq, Jul 2013)

GeneCards Summary for HIP1 Gene: 
HIP1 (huntingtin interacting protein 1) is a protein-coding gene. Diseases associated with HIP1 include huntington's disease, and chronic myelomonocytic leukemia, and among its related super-pathways are Clathrin-dependent protein traffic and Parkinson's disease. GO annotations related to this gene include actin binding and phosphatidylinositol binding. An important paralog of this gene is TLN2.

UniProtKB/Swiss-Prot: HIP1_HUMAN, O00291
Function: Plays a role in clathrin-mediated endocytosis and trafficking. Involved in regulating AMPA receptor
trafficking in the central nervous system in an NMDA-dependent manner. Enhances androgen receptor (AR)-mediated
transcription. May act as a proapoptotic protein that induces cell death by acting through the intrinsic
apoptosis pathway. 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. May play a functional
role in the cell filament networks. May be required for differentiation, proliferation, and/or survival of
somatic and germline progenitors




(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_000007.13  NT_007933.15  NC_018918.2  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HIP1 gene promoter:
         AML1a   Tal-1   AP-2alpha isoform 3   AP-4   AP-2alpha isoform 2   AP-2gamma   E47   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): HIP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HIP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HIP1


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

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

HIP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HIP1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M075162:  view genomic region     (about GC identifiers)

Start:
75,162,621 bp from pter      End:
75,368,280 bp from pter
Size:
205,660 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 74,496,473-74,701,343     

(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: HIP1_HUMAN, O00291 (See protein sequence)
Recommended Name: Huntingtin-interacting protein 1  
Size: 1037 amino acids; 116221 Da
Subunit: Homodimer. Binds actin. Binds HTT (via N-terminus). This interaction is restricted to the brain. Binds to
IFT57. In normal conditions, it poorly interacts with IFT57, HIP1 being strongly associated with HTT. However, in
mutant HTT proteins with a long poly-Gln region, interaction between HTT and HIP1 is inhibited, promoting the
interaction between HIP1 and IFT57. Interacts with CLTB (via N-terminus). Interacts (via coiled coil domain) with
AR. Interacts with AP2A1, AP2A2, CLTC and HIP1R. Interacts with GRIA1, GRIN2A AND GRIN2B
Subcellular location: Cytoplasm. Nucleus. Endomembrane system. Cytoplasmic vesicle, clathrin-coated vesicle
membrane. Note=Shuttles between cytoplasm and nucleus. Nuclear translocation can be induced by AR
Miscellaneous: The affinity of the huntingtin protein-HIP1 interaction is inversely correlated to the length of
the polyglutamine tract added to the huntingtin protein in Huntington disease
Sequence caution: Sequence=AAC51257.1; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for HIP1:
2NO2 (3D)        2QA7 (3D)        3I00 (3D)    
Secondary accessions: B4E3I7 E7ES17 O00328 Q2TB58 Q8TDL4
Alternative splicing: 3 isoforms:  O00291-1   O00291-2   O00291-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HIP1: NX_O00291

Explore proteomics data for HIP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00291

  • HIP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HIP1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001230127.1  NP_005329.3  

    ENSEMBL proteins: 
     ENSP00000336747   ENSP00000410300   ENSP00000414280  

    Human Recombinant Protein Products for HIP1: 
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    Novus Biologicals HIP1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HIP1 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA11604514
    GO:0005794Golgi apparatus IDA11788820
    GO:0005856cytoskeleton TAS9147654
    GO:0012505endomembrane system IEA--

    HIP1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for HIP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR002558 ILWEQ_dom
     IPR011417 ANTH_dom
     IPR008942 ENTH_VHS
     IPR016024 ARM-type_fold
     IPR013809 Epsin-like_N

    Graphical View of Domain Structure for InterPro Entry O00291

    ProtoNet protein and cluster: O00291

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


    UniProtKB/Swiss-Prot: HIP1_HUMAN, O00291
    Domain: The pseudo DED region (pDED) mediates the interaction with IFT57
    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


    HIP1 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: HIP1_HUMAN, O00291
    Function: Plays a role in clathrin-mediated endocytosis and trafficking. Involved in regulating AMPA receptor
    trafficking in the central nervous system in an NMDA-dependent manner. Enhances androgen receptor (AR)-mediated
    transcription. May act as a proapoptotic protein that induces cell death by acting through the intrinsic
    apoptosis pathway. 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. May play a functional
    role in the cell filament networks. May be required for differentiation, proliferation, and/or survival of
    somatic and germline progenitors

         Genatlas biochemistry entry for HIP1:
    huntingtin interacting protein,116kDa,expressed in neurons of the central nervous system,homolog to S.cerevisae
    SPa2p,putatively involved in neuronal cytoskeleton function

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005200structural constituent of cytoskeleton TAS9140394
    GO:0005488binding ----
    GO:0005515protein binding IPI11788820
    GO:0005543phospholipid binding ----
         
    HIP1 for ontologies           About GeneDecksing


    Phenotypes:
         15/17 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Hip1) (see all 17):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  liver/biliary system  mortality/aging  muscle 
     nervous system  normal  reproductive system  respiratory system  skeleton 

    HIP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HIP1: Hip1tm3Tsr Hip1tm2.1Tsr Hip1tm1Tsr

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HIP1 
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    miRNA
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    hsa-miR-302d hsa-miR-520e hsa-miR-642a hsa-miR-513a-5p hsa-miR-128 hsa-miR-1245 hsa-miR-29a hsa-miR-3653
    SwitchGear 3'UTR luciferase reporter plasmidHIP1 3' UTR sequence
    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 HIP1 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
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.47
    3fMLP Pathway
    Huntington's Disease Pathway0.30
    4EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway
    5Coregulation of Androgen receptor activity
    Coregulation of Androgen receptor activity

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for HIP1
        Clathrin-dependent protein traffic

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for HIP1
        Huntington's Disease Pathway

    2 GeneGo (Thomson Reuters) Pathways for HIP1
        wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
    Transport Clathrin-coated vesicle cycle

    2 BioSystems Pathways for HIP1
        EGFR1 Signaling Pathway
    Coregulation of Androgen receptor activity


    1         Kegg Pathway  (Kegg details for HIP1):
        Huntington's disease


    HIP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HIP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/42 Interacting proteins for HIP1 (O002912, 3 ENSP000003367474) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HTTP428582, 3, ENSP000003471844MINT-8385351 MINT-3981386 MINT-3977977 I2D: score=4 STRING: ENSP00000347184
    CLTCL1P536752, 3MINT-17143 MINT-17146 MINT-17144 MINT-17145 I2D: score=1 
    PFDN1O609252, 3MINT-63188 I2D: score=5 
    MAPK6Q166592, 3MINT-8261241 I2D: score=2 
    AP2A1O957822, 3, ENSP000003519264MINT-18401 MINT-18402 MINT-18399 MINT-18400 I2D: score=2 STRING: ENSP00000351926
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0006897endocytosis IEA--
    GO:0006915apoptotic process IDA11788820
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process IDA11788820

    HIP1 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

    HIP1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for HIP1

    5 Novoseek inferred chemical compound relationships for HIP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamine 47.6 5 11788820 (3), 14715959 (1)
    inositol 38.4 4 14732715 (2), 17452370 (1)
    tyrosine 25 7 9616134 (2), 14732715 (2), 10910073 (1), 11588050 (1)
    phenylalanine 18.6 1 11007801 (1)
    lipid 0 3 14732715 (1), 17440072 (1)

    Search CenterWatch for drugs/clinical trials and news about HIP1

    (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 HIP1 gene (2 alternative transcripts): 
    NM_001243198.2  NM_005338.6  

    Unigene Cluster for HIP1:

    Huntingtin interacting protein 1
    Hs.329266  [show with all ESTs]
    Unigene Representative Sequence: NM_005338
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000336926(uc003uds.2 uc011kfz.2) ENST00000434438 ENST00000404944
    ENST00000420909 ENST00000485723 ENST00000479835
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    hsa-miR-302d hsa-miR-520e hsa-miR-642a hsa-miR-513a-5p hsa-miR-128 hsa-miR-1245 hsa-miR-29a hsa-miR-3653
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    Additional mRNA sequence: 

    AF365404.1 AF486833.1 AK296390.1 AK302382.1 AK304738.1 BC082970.1 BC110545.2 BC139786.1 
    U79734.1 Y09420.1 

    11 DOTS entries:

    DT.409985  DT.95162272  DT.100658614  DT.70102239  DT.75195481  DT.97858552  DT.91735869  DT.121061226 
    DT.40118954  DT.75163476  DT.99936096 

    6 AceView cDNA sequences:

    AI272229 CA427404 CA442592 N33381 BM990826 BQ690764 

    GeneLoc Exon Structure


    (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

    HIP1 expression in normal human tissues (normalized intensities)      HIP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTTTCAGGT
    HIP1 Expression
    About this image


    HIP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/29 selected tissues (see all 29) fully expand
     
     Uterus (Reproductive System)    fully expand to see all 5 entries
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             lung ; pneumocytes   
             bronchoalveolar lavage cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   

    See HIP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HIP1

    SOURCE GeneReport for Unigene cluster: Hs.329266

    UniProtKB/Swiss-Prot: HIP1_HUMAN, O00291
    Tissue specificity: Ubiquitously expressed with the highest level in brain. Expression is up-regulated in prostate
    and colon cancer

        SABiosciences Expression via Pathway-Focused PCR Arrays including HIP1: 
              Huntington's Disease in human mouse rat
              Apoptosis 384HT in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIP1

    (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 HIP1 gene from 7/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hip11 , 5 huntingtin interacting protein 11, 5 84.87(n)1
    88.63(a)1
      5 (75.18 cM)5
    2151141  NM_146001.21  NP_666113.21 
     1354065235 
    chicken
    (Gallus gallus)
    Aves HIP11 huntingtin interacting protein 1 76.47(n)
    80.24(a)
      770683  XM_001232952.1  XP_001232953.1 
    lizard
    (Anolis carolinensis)
    Reptilia HIP16
    Uncharacterized protein
    60(a)
    1 ↔ 1
    AAWZ02040702(1329-6591)
    zebrafish
    (Danio rerio)
    Actinopterygii hip11 huntingtin interacting protein 1 66.86(n)
    69.25(a)
      793823  NM_001166205.1  NP_001159677.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG109713 cytoskeleton organization and
    biogenesis actin more
    30(a)   69E2   --
    worm
    (Caenorhabditis elegans)
    Secernentea ZK370.3b3
    hipr-11
    Protein HIPR-11 31(a)
    (best of 2)3
    45.1(n)1
    36.84(a)1
      III(8791926-8796528)3
    1762241  NM_171215.41  NP_741253.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SLA21 Sla2p 40.05(n)
    24.89(a)
      855478   NP_014156.2 


    ENSEMBL Gene Tree for HIP1 (if available)
    TreeFam Gene Tree for HIP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HIP1 gene
    TLN22  HIP1R2  MESDC12  TLN12  
    1 SIMAP similar gene for HIP1 using alignment to 4 protein entries:     HIP1_HUMAN (see all proteins):
    HIP1R

    HIP1 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

    10/4683 SNPs in HIP1 are shown (see all 4683)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1890460381,2
    --74495184(+) GCCTCA/CACCTC 2 -- ds50010--------
    rs748928621,2
    C,F--74495193(+) TCCTGG/CGCTGA 2 -- ds50011Minor allele frequency- C:0.11NA 120
    rs7943691,2
    C,A--74495239(-) tgcctG/Atagtc 2 -- ds50013Minor allele frequency- A:0.45NA 124
    rs102453941,2
    C,F,H--74495260(+) ttcccA/Cgttaa 2 -- ds50013Minor allele frequency- C:0.23NS NA 290
    rs1920269721,2
    --74495278(+) GTAGAC/TGGGGT 2 -- ds50010--------
    rs624777371,2
    C,F--74495342(+) ACTGCG/AGCCTC 2 -- ds50015Minor allele frequency- A:0.28WA NA 244
    rs1429739111,2
    C--74495411(+) TTTTT-/T/TC  
            
    TTTTC
    2 -- ds50010--------
    rs624777381,2
    C,F--74495458(+) GGCAGT/GTCTCT 2 -- ds50011Minor allele frequency- G:0.00NA 2
    rs1894488321,2
    --74495653(+) AGCCAC/TGCTGG 2 -- ds50010--------
    rs1431255791,2
    --74495721(+) AAACAC/TAGATG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for HIP1 (75162621 - 75368280 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/29 variations for HIP1 (see all 29):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2734674CNV Deletion23290073
    esv1647869CNV Deletion17803354
    dgv120n16CNV Deletion17901297
    esv2734673CNV Deletion23290073
    esv2674202CNV Deletion23128226
    esv2734676CNV Deletion23290073
    esv2667226CNV Deletion23128226
    esv2734675CNV Deletion23290073
    esv2421823CNV Duplication20811451
    nsv509210CNV Insertion20534489


    Human Gene Mutation Database (HGMD): HIP1
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing HIP1
    DNA2.0 Custom Variant and Variant Library Synthesis for HIP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601767   
    OMIM disorders: 176807  
    UniProtKB/Swiss-Prot: HIP1_HUMAN, O00291
  • Note=A chromosomal aberration involving HIP1 is found in a form of chronic myelomonocytic leukemia
    (CMML). Translocation t(5;7)(q33;q11.2) with PDGFRB. The chimeric HIP1-PDGFRB transcript results from an in-frame
    fusion of the two genes. The reciprocal PDGFRB-HIP1 transcript is not expressed

  • 19 diseases for HIP1:    About MalaCards
    huntington's disease    chronic myelomonocytic leukemia    distal hereditary motor neuropathy    tooth disease
    noma    charcot-marie-tooth disease    intellectual disability    prostate cancer, progression of
    prostate cancer    cataract    neuropathy    prostatitis
    systemic lupus erythematosus    lupus erythematosus    alcoholism    colon cancer
    leukemia    gastric cancer    neuronitis

    1 disease from the University of Copenhagen DISEASES database for HIP1:
    Huntington's disease

    HIP1 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for HIP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    huntington disease 77.5 8 15906374 (1), 9616134 (1), 18637945 (1), 20179344 (1) (see all 6)
    leukemia myelomonocytic chronic 75 3 9616134 (1), 10428802 (1), 11287412 (1)
    prostate cancer 5.95 7 15899803 (3), 18670643 (1), 16027218 (1)
    tumors 0 7 12781365 (3), 15899803 (2), 17440072 (1)
    cancer 0 5 17452370 (1), 14998932 (1), 15899803 (1), 15059611 (1)

    Genetic Association Database (GAD): HIP1
    Human Genome Epidemiology (HuGE) Navigator: HIP1 (1 document)

    Export disorders for HIP1 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 HIP1 gene, integrated from 9 sources (see all 87):
    (articles sorted by number of sources associating them with HIP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system. (PubMed id 9147654)1, 2, 3, 9 Wanker E.E....Lehrach H. (1997)
    2. HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. (PubMed id 9140394)1, 2, 3, 9 Kalchman M.A.... Hayden M.R. (1997)
    3. Huntingtin interacting protein 1 induces apoptosis via a novel caspase-dependent death effector domain. (PubMed id 11007801)1, 2, 9 Hackam A.S.... Hayden M.R. (2000)
    4. 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)
    5. HIP1 functions in clathrin-mediated endocytosis through binding to clathrin and adaptor protein 2. (PubMed id 11517213)1, 2, 9 Metzler M.... Hayden M.R. (2001)
    6. Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi. (PubMed id 11788820)1, 2, 9 Gervais F.G.... Nicholson D.W. (2002)
    7. Clathrin- and AP-2-binding sites in HIP1 uncover a general assembly role for endocytic accessory proteins. (PubMed id 11577110)1, 2, 9 Mishra S.K....Traub L.M. (2001)
    8. The huntingtin interacting protein HIP1 is a clathrin and alpha- adaptin-binding protein involved in receptor-mediated endocytosis. (PubMed id 11532990)1, 2, 9 Waelter S....Wanker E.E. (2001)
    9. Fusion of Huntingtin interacting protein 1 to platelet-derived growth factor beta receptor (PDGFbetaR) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2). (PubMed id 9616134)1, 2, 9 Ross T.S.... Gilliland D.G. (1998)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 3092 HGNC: 4913 AceView: HIP1.1 Ensembl:ENSG00000127946 euGenes: HUgn3092
    ECgene: HIP1 Kegg: 3092 H-InvDB: HIP1

    (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 HIP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HIP1 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
    Patent Information for HIP1 gene:
    Search GeneIP for patents involving HIP1

    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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    About This Section

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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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