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Aliases & Descriptions for HIP1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| HIP-I 3 | | ILWEQ 1, 2 | | MGC126506 2 |
| | | Descriptions |
|---|
| huntingtin interacting protein 1 2 |
|
| | Search outside databases for aliases for HIP1 genePrevious GC identifers: GC07M073699 GC07M074762 GC07M074776 GC07M074777 GC07M074808 |
Summaries for HIP1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene 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. An alternative splice variant of this gene has been described but its full length sequence has not been determined. [provided by RefSeq] UniProtKB/Swiss-Prot: HIP1_HUMAN, O00291Function: 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 |
Genomic Location for HIP1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the HIP1 gene 
Entrez Gene cytogenetic band: 7q11.23 Ensembl cytogenetic band: 7q11.23 HGNC cytogenetic band: 7q11.23HIP1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M075001:
(about GC identifiers)
Start:
|
75,001,345 bp from pter |
End:
|
75,206,215 bp from pter |
Size:
|
204,871 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 74,496,473-74,701,343 |
RefSeq DNA sequence:- NC_000007.12 NT_007933.14 NT_079595.2
| Proteins for HIP1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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: 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
PDB structure from and Proteopedia :2NO2 (3D)
 2QA7 (3D)
 
Secondary accessions: O00328 Q2TB58 Q8TDL4Alternative splicing: 2 isoforms: O00291-1 O00291-2 REFSEQ proteins: NP_005329.3
ENSEMBL proteins: ENSP00000336747
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5/9 Gene Ontology (GO) cellular component terms (links to tree view) (see all 9
): About this table
Antibodies for HIP1: Assays for HIP1: | Protein
Domains/ Families for HIP1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, O00291Domain: The pseudo DED region (pDED) mediates the interaction with IFT57Similarity: Belongs to the SLA2 familySimilarity: Contains 1 ENTH (epsin N-terminal homology) domainSimilarity: Contains 1 I/LWEQ domain | Gene Function for HIP1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005338
Applied Biosystems Silencer® siRNAs for HIP1
Sigma-Aldrich siRNA for HIP1  Sigma-Aldrich shRNA Panels and shRNA for HIP1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005338                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_005338                                  untagged cDNA clones in CMV expression vector (see all 3): AF365404 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_005338
UniProtKB/Swiss-Prot: HIP1_HUMAN, O00291Function: 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 progenitorsGenatlas 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 function10 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Hip1):
4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for HIP1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
2 Sigma-Aldrich "Your Favorite Gene" Pathways for HIP1 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for HIP1 
5/34 Interacting proteins for HIP1 (ENSP000003367473 O002912) via UniProtKB, MINT, and/or STRING (see all 34
)About this table
5/10 Gene Ontology (GO) biological process terms (links to tree view) (see all 10
): About this table
|
Drugs & Compounds for HIP1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for HIP1 3 Novoseek chemical compound relationships for HIP1 gene
About this table
|
Transcripts for HIP1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005338
Sigma-Aldrich siRNA for HIP1  Sigma-Aldrich shRNA Panels and shRNA for HIP1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_005338 REFSEQ mRNAs for HIP1 gene: NM_005338.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_005338               OriGene GFP tagged cDNA clone in CMV expression vector: NM_005338                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_005338                                  untagged cDNA clones in CMV expression vector (see all 3): AF365404  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.99936096 DT.121061226 DT.40118954 DT.75163476 6 AceView cDNA sequences:CA427404 AI272229 CA442592 BM990826 N33381 BQ690764
highest scoring ESTs for HIP1:AF365404 AF486833 AI240850 AI918081 AA071521 AA076887 AA077535 AA077616 AA078419 AA082343 Unigene Cluster for HIP1: Huntingtin interacting protein 1 Hs.329266 [show with all ESTs]Unigene Representative Sequence: NM_005338
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000336926
|
Expression for HIP1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| HIP1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for HIP1
1 / 2 / 3 9 probe-sets matching HIP1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.329266
Expression variation in blood from EXPOLDB for HIP1 UniProtKB/Swiss-Prot: HIP1_HUMAN, O00291Tissue specificity: Ubiquitously expressed with the highest level in brain. Expression is up-regulated in prostate and colon cancer |
Orthologs for HIP1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for HIP1 gene from 5/16 species (see all 16
)
About this table Species with no ortholog for HIP1
ENSEMBL Gene Tree for HIP1 | Paralogs for HIP1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for HIP1 gene
- HIP1R2
|
SNPs/Variants for HIP1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for HIP1 (up to first 250kb)
|
Disorders & Mutations for HIP1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 601767 disorders: 176807 UniProtKB/Swiss-Prot: HIP1_HUMAN, O00291
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 expressed5 Novoseek disease relationships for HIP1 gene
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| huntington disease |
77.74 |
7 |
15906374 (1), 9616134 (1), 18637945 (1), 11007801 (1) (see all 5) |
| leukemia myelomonocytic chronic |
76.00 |
3 |
9616134 (1), 10428802 (1), 11287412 (1) |
| prostate cancer |
8.63 |
7 |
15899803 (3), 18670643 (1), 16027218 (1) |
| cancer |
0.00 |
5 |
17452370 (1), 14998932 (1), 15899803 (1), 15059611 (1) |
| tumors |
0.00 |
7 |
12781365 (3), 15899803 (2), 17440072 (1) |
About this table
Human Genome Epidemiology Navigator: HIP1 (1 document)
|
Medical News for HIP1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for HIP1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/60 PubMed articles for HIP1 gene (see all 60
):- HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system. (PubMed id 9147654)1, 2, 3, 4 Wanker E.E....Lehrach H. (1997)
- HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. (PubMed id 9140394)1, 2, 3, 4 Kalchman M.A.... Hayden M.R. (1997)
- Huntingtin interacting protein 1 induces apoptosis via a novel caspase-dependent death effector domain. (PubMed id 11007801)1, 3, 4 Hackam A.S....Hayden M.R. (2000)
- HIP1 and HIP1r stabilize receptor tyrosine kinases and bind 3-phosphoinositides via epsin N-terminal homology domains. (PubMed id 14732715)1, 3, 4 Hyun T.S....Ross T.S. (2004)
- HIP1 functions in clathrin-mediated endocytosis through binding to clathrin and adaptor protein 2. (PubMed id 11517213)1, 3, 4 Metzler M....Hayden M.R. (2001)
- Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi. (PubMed id 11788820)1, 3, 4 Gervais F.G.... Nicholson D.W. (2002)
- Clathrin- and AP-2-binding sites in HIP1 uncover a general assembly role for endocytic accessory proteins. (PubMed id 11577110)1, 3, 4 Mishra S.K....Traub L.M. (2001)
- The huntingtin interacting protein HIP1 is a clathrin and alpha-adaptin-binding protein involved in receptor-mediated endocytosis. (PubMed id 11532990)1, 3, 4 Waelter S....Wanker E.E. (2001)
- 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, 3, 4 Ross T.S....Gilliland D.G. (1998)
- 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, 3, 4 Chen C.Y. and Brodsky F.M. (2005)
|
Search for HIP1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing HIP1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing HIP1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HIP1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for HIP1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
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