Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

HIP1 Gene

protein-coding   GIFtS: 62
GCID: GC07M075162

huntingtin interacting protein 1

 Explore 21 diseases affiliated with
HIP1 via our new
 Human Malady Compendium 
Biological research products
for HIP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Huntingtin Interacting Protein 11 2
ILWEQ1 2
Huntingtin-Interacting Protein I2 3
HIP-I2 3
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:
The product of this gene is a membrane-associated protein that colocalizes with huntingtin. This protein has
similarities to cytoskeleton proteins and its interaction with huntingtin is thought to play a functional role in the
cell filament network. Loss of normal huntingtin-HIP1 interaction in Huntington disease may contribute to a defect in
membrane-cytoskeletal integrity in the brain. This gene could help in the understanding of the normal function of
huntingtin and also the pathogenesis of Huntington disease. It also has been implicated in the pathogenesis of
hematopoietic malignancies. Two transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Aug 2011)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O00291

  • HIP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000336747   ENSP00000410300   ENSP00000414280  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for HIP1 
    GenScript Custom Purified and Recombinant Proteins Services for HIP1
    Novus Biologicals HIP1 Proteins
    Novus Biologicals HIP1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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:0005624membrane fraction ----
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA11604514
    GO:0005794Golgi apparatus IDA11788820
    GO:0005856cytoskeleton TAS9147654


    HIP1 for ontologies           About GeneDecksing



    HIP1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of HIP1
    Browse R&D Systems for Antibodies
    OriGene Antibodies (see all 2): HIP1
    OriGene Custom Antibody Services for HIP1 
    GenScript Custom Superior Antibodies Services for HIP1
    Novus Biologicals HIP1 Antibodies
    Search for Antibodies for HIP1 at Abcam  
    Uscn Antibodies for HIP1
    ThermoFisher Antibodies for HIP1

    Assay Products for HIP1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HIP1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for HIP1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    HIP1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR002558 ILWEQ
     IPR011417 ANTH
     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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

         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

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: HIP1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HIP1
    8/57 QIAGEN miScript miRNA Assays for microRNAs that regulate HIP1 (see all 57):
    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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HIP1 (see all 7)
    OriGene shRNA RFP: HIP1
    OriGene siRNA: HIP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HIP1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HIP1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HIP1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HIP1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: HIP1 (NM_005338)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HIP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HIP1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HIP1
    Search LifeMap BioReagents cell lines for HIP1

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIP1

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005200structural constituent of cytoskeleton TAS9140394
    GO:0005515protein binding IPI11788820
    GO:0005543phospholipid binding ----
    GO:0030276clathrin binding IDA11577110


    HIP1 for ontologies           About GeneDecksing


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Clathrin-dependent protein traffic
    Clathrin-dependent protein traffic1.00
    wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)0.35
    Transport_Clathrin-coated vesicle cycle0.66
    2EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway1.00
    3Coregulation of Androgen receptor activity
    Coregulation of Androgen receptor activity1.00
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.40
    5CCR3 Pathway in Eosinophils
    Huntington's Disease Pathway0.18

    Pathway sources
    See GeneCards unified pathways
    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:0006917induction of apoptosis IDA11007801


    HIP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HIP1 gene (2 alternative transcripts): 
    NM_001243198.1  NM_005338.5  

    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

    miRNA
    Products:
         
    OriGene 3'-UTR Clone: HIP1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HIP1
    8/57 QIAGEN miScript miRNA Assays for microRNAs that regulate HIP1 (see all 57):
    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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HIP1 (see all 7)
    OriGene shRNA RFP: HIP1
    OriGene siRNA: HIP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HIP1
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HIP1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HIP1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: HIP1 (NM_005338)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HIP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HIP1 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HIP1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HIP1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HIP1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HIP1

    Additional cDNA 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 BM990826 N33381 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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTTTCAGGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    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

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HIP1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HIP1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HIP1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HIP1
    In Situ
    Assay Products:
     

     
    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 5/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves HIP11 huntingtin interacting protein 1 76.47(n)
    80.24(a)
      770683  XM_001232952.1  XP_001232953.1 
    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, UniProtKB, 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

    10/3830 NCBI SNPs in HIP1 are shown (see all 3830    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs589357761,2
    C--70428555(+) TTTTT-/TAACAT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs748928621,2
    F,--74495193(+) TCCTGG/CGCTGA 2 -- ds50011Minor allele frequency- C:0.11NA 120
    rs102453941,2
    C,F,H--74495260(+) ttcccA/Cgttaa 2 -- ds50013Minor allele frequency- C:0.23NS NA 290
    rs624777371,2
    C,F,--74495342(+) ACTGCG/AGCCTC 2 -- ds50015Minor allele frequency- A:0.28WA NA 244
    rs624777381,2
    C,--74495458(+) GGCAGT/GTCTCT 2 -- ds50011Minor allele frequency- G:0.00NA 2
    rs77936471,2
    C,F,H,--74495834(+) AAAAAT/CGAAAT 2 -- ut317Minor allele frequency- C:0.07NS NA CSA WA 911
    rs790722321,2
    F,--74496031(+) TTAGGG/ACCTTC 2 -- ut311Minor allele frequency- A:0.04WA 118
    rs792982311,2
    F,--74496150(+) CACCAC/TGGTGT 2 -- ut311Minor allele frequency- T:0.04WA 118
    rs772221081,2
    --74496281(+) GGTGCA/GGTCTC 2 -- ut310--------
    rs11678281,2
    C,F,A,H,--74496461(+) TCTAGA/GCTAAG 2 -- ut3126Minor allele frequency- G:0.12NS EA NA WA 2990

    HapMap Linkage Disequilibrium report for HIP1 (75162621 - 75368280 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for HIP1
         6 CNVs: 37760 3686 9574 52281 22956 64864
    Human Gene Mutation Database (HGMD): HIP1

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    HIP1 for disorders           About GeneDecksing

    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

    20/21 diseases for HIP1 (see all 21):    About MalaCards
    huntington's disease    charcot-marie-tooth disease    distal hereditary motor neuropathy    myelomonocytic leukemia
    chronic myelomonocytic leukemia    tooth disease    systemic lupus erythematosus    intellectual disability
    lupus erythematosus    prostate cancer, progression of    myeloproliferative disorder    prostate cancer
    neuropathy    noma    cataract    prostatitis
    hematopoiesis    leukemia    colon cancer    neuronitis

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

    5 Novoseek 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)

    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 81):
    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    Advanced Cell Diagnostics
    About This Section

     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of HIP1
     Browse Small Molecules at EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for HIP1   OriGene shRNA RFP for HIP1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HIP1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HIP1  
     Browse OriGene Protein Over-expression Lysates   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for HIP1   OriGene 3'-UTR Clone for HIP1  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HIP1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HIP1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for HIP1   OriGene Custom Protein Services for HIP1  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HIP1
     Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HIP1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HIP1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HIP1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HIP1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HIP1
     GenScript Custom Purified and Recombinant Proteins Services for HIP1 GenScript cDNA clones with any tag delivered in your preferred vector for HIP1
     GenScript Custom Assay Services for HIP1 GenScript Custom Superior Antibodies Services for HIP1
     GenScript Custom overexpressing Cell Line Services for HIP1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in HIP1 promoter
     Search Chromatin IP Primers for HIP1
     RT2 qPCR Primer Assay in human, mouse, rat HIP1
     GNC Network for HIP1
     SABiosciences PCR Arrays including human, mouse, rat HIP1
     Search Tocris compounds for HIP1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     HIP1 antibodies
     HIP1 proteins
     HIP1 lysates
     Search for Antibodies for HIP1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for HIP1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     HIP1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for HIP1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIP1
     SwitchGear 3'UTR luciferase reporter plasmids for HIP1
     SwitchGear Promoter luciferase reporter plasmids for HIP1
     ThermoFisher Antibodies for HIP1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HIP1
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      HIP1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4