Aliases for HIP1 Gene
Aliases for HIP1 Gene
External Ids for HIP1 Gene
- HGNC: 4913
- Entrez Gene: 3092
- Ensembl: ENSG00000127946
- OMIM: 601767
- UniProtKB: O00291
Previous GeneCards Identifiers for HIP1 Gene
- GC07M073699
- GC07M074762
- GC07M074776
- GC07M074777
- GC07M074808
- GC07M075001
- GC07M075162
- GC07M070249
Summaries 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 Disease and Chronic Myelomonocytic Leukemia. Among its related pathways are fMLP Pathway and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include binding and structural constituent of cytoskeleton. An important paralog of this gene is HIP1R.
UniProtKB/Swiss-Prot for HIP1 Gene
-
Plays a role in clathrin-mediated endocytosis and trafficking (PubMed:11532990, PubMed:11577110, PubMed:11889126). Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner (By similarity). Regulates presynaptic nerve terminal activity (By similarity). Enhances androgen receptor (AR)-mediated transcription (PubMed:16027218). May act as a proapoptotic protein that induces cell death by acting through the intrinsic apoptosis pathway (PubMed:11007801). Binds 3-phosphoinositides (via ENTH domain) (PubMed:14732715). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis (PubMed:14732715). May play a functional role in the cell filament networks (PubMed:18790740). May be required for differentiation, proliferation, and/or survival of somatic and germline progenitors (PubMed:11007801, PubMed:12163454).
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIP1 Gene
Genomics for HIP1 Gene
Regulatory Elements for HIP1 Gene
Enhancers for HIP1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HIP1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HIP1 gene promoter:
Regulatory Element Products
Genomic Location for HIP1 Gene
- Chromosome:
- 7
- Start:
- 75,533,298 bp from pter
- End:
- 75,738,972 bp from pter
- Size:
- 205,675 bases
- Orientation:
- Minus strand
Genomic View for HIP1 Gene
Genes around HIP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q11.23 by Ensembl
- 7q11.23 by Entrez Gene
- 7q11.23 by HGNC
HIP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HIP1 Gene
Proteins for HIP1 Gene
-
Protein details for HIP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O00291-HIP1_HUMAN
- Recommended name:
- Huntingtin-interacting protein 1
- Protein Accession:
- O00291
- B4E3I7
- E7ES17
- O00328
- Q2TB58
- Q8TDL4
- V5LU97
Protein attributes for HIP1 Gene
- Size:
- 1037 amino acids
- Molecular mass:
- 116221 Da
- Quaternary structure:
-
- 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.
- 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.
- SequenceCaution:
-
- Sequence=AAC51257.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for HIP1 Gene
Post-translational modifications for HIP1 Gene
Other Protein References for HIP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HIP1
- Invitrogen Antibodies for HIP1
- antibodies-online Antibodies for HIP1: See all 50
- GeneTex HIP1 antibody for HIP1
-
Santa Cruz Biotechnology (SCBT) Antibodies for HIP1
Protein Products
-
OriGene Purified Proteins for HIP1
- Search Origene for MassSpec and Protein Over-expression Lysates for HIP1
- Origene Custom Protein Services for HIP1
-
Cloud-Clone Corp. Proteins for HIP1
- antibodies-online Proteins for HIP1: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HIP1
Assay Products
- antibodies-online Kits for HIP1: See all 2
No data available for DME Specific Peptides for HIP1 Gene
Domains & Families for HIP1 Gene
Protein Domains for HIP1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HIP1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O00291UniProtKB/Swiss-Prot:
HIP1_HUMAN :- The pseudo DED region (pDED) mediates the interaction with IFT57.
- Belongs to the SLA2 family.
- Domain:
-
- The pseudo DED region (pDED) mediates the interaction with IFT57.
- Binds F-actin via the talin-like I/LWEQ domain.
- Family:
-
- Belongs to the SLA2 family.
No data available for Gene Families for HIP1 Gene
Function for HIP1 Gene
Molecular function for HIP1 Gene
- GENATLAS Biochemistry:
- huntingtin interacting protein,116kDa,expressed in neurons of the central nervous system,homolog to S.cerevisae SPa2p,putatively involved in neuronal cytoskeleton function
- UniProtKB/Swiss-Prot Function:
- Plays a role in clathrin-mediated endocytosis and trafficking (PubMed:11532990, PubMed:11577110, PubMed:11889126). Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner (By similarity). Regulates presynaptic nerve terminal activity (By similarity). Enhances androgen receptor (AR)-mediated transcription (PubMed:16027218). May act as a proapoptotic protein that induces cell death by acting through the intrinsic apoptosis pathway (PubMed:11007801). Binds 3-phosphoinositides (via ENTH domain) (PubMed:14732715). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis (PubMed:14732715). May play a functional role in the cell filament networks (PubMed:18790740). May be required for differentiation, proliferation, and/or survival of somatic and germline progenitors (PubMed:11007801, PubMed:12163454).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005154 | epidermal growth factor receptor binding | TAS | 20074057 |
| GO:0005200 | structural constituent of cytoskeleton | TAS | 9140394 |
| GO:0005515 | protein binding | IPI | 9140394 |
| GO:0005543 | phospholipid binding | IEA | -- |
| GO:0005546 | NOT phosphatidylinositol-4,5-bisphosphate binding | IDA | 14732715 |
Phenotypes for HIP1 Gene
- MGI mutant phenotypes for HIP1:
-
inferred from 6 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- normal phenotype
- growth/size/body region phenotype
- immune system phenotype
- muscle phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- neoplasm
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- skeleton phenotype
- hematopoietic system phenotype
- liver/biliary system phenotype
- GenomeRNAi human phenotypes for HIP1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for HIP1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for HIP1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HIP1 gene
- Search ViGene Biosciences for HIP1
CRISPR Products
-
OriGene CRISPR knockouts for HIP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIP1
- GenScript: Design CRISPR guide RNA sequences for HIP1
miRNA for HIP1 Gene
- miRTarBase miRNAs that target HIP1
-
- hsa-mir-4999-3p (MIRT222721)
- hsa-mir-1273e (MIRT446602)
- hsa-mir-6783-3p (MIRT446604)
- hsa-mir-1343-3p (MIRT446605)
- hsa-mir-636 (MIRT446606)
- hsa-mir-5196-5p (MIRT446607)
- hsa-mir-4747-5p (MIRT446608)
- hsa-mir-4646-5p (MIRT446609)
- hsa-mir-204-3p (MIRT446610)
- hsa-mir-6852-5p (MIRT446611)
- hsa-mir-6742-3p (MIRT446612)
- hsa-mir-939-3p (MIRT446613)
- hsa-mir-520f-3p (MIRT446614)
- hsa-mir-302c-3p (MIRT446615)
- hsa-mir-520e (MIRT446616)
- hsa-mir-520d-3p (MIRT446617)
- hsa-mir-520c-3p (MIRT446618)
- hsa-mir-520b (MIRT446619)
- hsa-mir-520a-3p (MIRT446620)
- hsa-mir-373-3p (MIRT446621)
- hsa-mir-372-3p (MIRT446622)
- hsa-mir-302e (MIRT446623)
- hsa-mir-302d-3p (MIRT446624)
- hsa-mir-302b-3p (MIRT446625)
- hsa-mir-302a-3p (MIRT446626)
- hsa-mir-5089-5p (MIRT509471)
- hsa-mir-6506-5p (MIRT509472)
- hsa-mir-619-5p (MIRT509473)
- hsa-mir-6809-3p (MIRT628147)
- hsa-mir-6833-3p (MIRT628148)
- hsa-mir-4768-5p (MIRT628149)
- hsa-mir-4753-3p (MIRT628150)
- hsa-mir-6873-3p (MIRT628151)
- hsa-mir-130b-5p (MIRT628152)
- hsa-mir-6817-3p (MIRT628153)
- hsa-mir-7110-3p (MIRT628154)
- hsa-mir-138-2-3p (MIRT628155)
- hsa-mir-4674 (MIRT628156)
- hsa-mir-4437 (MIRT628157)
- hsa-mir-760 (MIRT628158)
- hsa-mir-642b-3p (MIRT628159)
- hsa-mir-642a-3p (MIRT628160)
- hsa-mir-6719-3p (MIRT628161)
- hsa-mir-4526 (MIRT628162)
- hsa-mir-3660 (MIRT628163)
- hsa-mir-6730-3p (MIRT628164)
- hsa-mir-301b-5p (MIRT628165)
- hsa-mir-301a-5p (MIRT628166)
- hsa-mir-6836-3p (MIRT634631)
- hsa-mir-6829-3p (MIRT634632)
- hsa-mir-6791-3p (MIRT634633)
- hsa-mir-6778-3p (MIRT634634)
- hsa-mir-210-5p (MIRT634635)
- hsa-mir-150-5p (MIRT634636)
- hsa-mir-6747-3p (MIRT634637)
- hsa-mir-6752-3p (MIRT634638)
- hsa-mir-7108-3p (MIRT634639)
- hsa-mir-6801-3p (MIRT634640)
- hsa-mir-6810-3p (MIRT634641)
- hsa-mir-186-3p (MIRT634642)
- hsa-mir-520h (MIRT634643)
- hsa-mir-520g-3p (MIRT634644)
- hsa-mir-512-3p (MIRT634645)
- hsa-mir-93-5p (MIRT634646)
- hsa-mir-526b-3p (MIRT634647)
- hsa-mir-519d-3p (MIRT634648)
- hsa-mir-20b-5p (MIRT634649)
- hsa-mir-20a-5p (MIRT634650)
- hsa-mir-17-5p (MIRT634651)
- hsa-mir-106b-5p (MIRT634652)
- hsa-mir-106a-5p (MIRT634653)
- hsa-mir-640 (MIRT702952)
- hsa-mir-5589-5p (MIRT702953)
- hsa-mir-4731-5p (MIRT702954)
miRNA Products
- Search ViGene Biosciences for HIP1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HIP1
- Browse OriGene Inhibitory RNA Products For HIP1
-
ViGene Biosciences ready-to-package AAV shRNAs for HIP1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for HIP1
- VectorBuilder custom plasmid, inducible vectors for HIP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HIP1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for HIP1
-
ViGene Biosciences adenoviral particle packaged cDNA for HIP1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HIP1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HIP1 gene
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HIP1 Gene
Localization for HIP1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HIP1 Gene
- Cytoplasm. Nucleus. Endomembrane system. Cytoplasmic vesicle, clathrin-coated vesicle membrane. Note=Shuttles between cytoplasm and nucleus. Nuclear translocation can be induced by AR.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
| cytoskeleton | 4 |
| plasma membrane | 3 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | TAS,IEA | 20074057 |
| GO:0005737 | cytoplasm | IEA,IDA | 11604514 |
| GO:0005794 | Golgi apparatus | IDA | 11788820 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005856 | cytoskeleton | TAS | 9147654 |
Pathways & Interactions for HIP1 Gene
Pathways by source for HIP1 Gene
1 BioSystems pathway for HIP1 Gene
3 Reactome pathways for HIP1 Gene
1 KEGG pathway for HIP1 Gene
2 GeneGo (Thomson Reuters) pathways for HIP1 Gene
1 Qiagen pathway for HIP1 Gene
Interacting Proteins for HIP1 Gene
Selected Interacting proteins:
O00291-HIP1_HUMAN
ENSP00000336747
for HIP1 Gene via
MINT
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006897 | endocytosis | IEA | -- |
| GO:0006915 | apoptotic process | IEA,IDA | 11788820 |
| GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | IDA | 11788820 |
Transcripts for HIP1 Gene
mRNA/cDNA for HIP1 Gene
- (6) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (6) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HIP1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HIP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIP1
- GenScript: Design CRISPR guide RNA sequences for HIP1
miRNA Products
- Search ViGene Biosciences for HIP1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HIP1
- Browse OriGene Inhibitory RNA Products For HIP1
-
ViGene Biosciences ready-to-package AAV shRNAs for HIP1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for HIP1
- VectorBuilder custom plasmid, inducible vectors for HIP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HIP1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Expression for HIP1 Gene
This gene is overexpressed in Breast (9.0) and Bone marrow stromal cell (8.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HIP1 Gene
NURSA nuclear receptor signaling pathways regulating expression of HIP1 Gene:
HIP1SOURCE GeneReport for Unigene cluster for HIP1 Gene:
Hs.329266mRNA Expression by UniProt/SwissProt for HIP1 Gene:
O00291-HIP1_HUMAN
Tissue specificity:
Ubiquitously expressed with the highest level in brain. Expression is up-regulated in prostate and colon cancer.
Evidence on tissue expression from TISSUES for HIP1 Gene
- Nervous system(4.6)
- Liver(4.3)
Primer Products
-
OriGene qPCR primer pairs and template standards for HIP1
-
OriGene qPCR primer pairs for HIP1
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIP1 Gene
Orthologs for HIP1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HIP1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HIP1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HIP1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hip1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Hip1 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HIP1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HIP1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HIP1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HIP1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hip1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hip1 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG10971 36 |
|
|
|
| Hip1 35 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | hipr-1 34 |
|
||
| tag-138 35 |
|
ManyToMany | |||
| ZK370.3a 36 |
|
|
|||
| ZK370.3b 36 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SLA2 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
ManyToMany | |
| -- 35 |
|
ManyToMany | |||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU11202 34 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | end4 34 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.11706 34 |
|
- Species where no ortholog for HIP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for HIP1 Gene
(1) SIMAP similar genes for HIP1 Gene using alignment to 5 proteins:
Variants for HIP1 Gene
| SNP ID | Clin | Chr 07 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs117129747 | Benign | 75,553,503(+) | GCTGT(C/T)GGCAT | reference, missense | |
| rs1000058757 | -- | 75,629,396(+) | AACCT(A/C)CTCAA | intron-variant | |
| rs1000075992 | -- | 75,703,169(+) | CATGG(C/T)GAAAC | intron-variant | |
| rs1000109565 | -- | 75,546,182(+) | AAAAG(A/G)AGACT | intron-variant | |
| rs1000127226 | -- | 75,640,767(+) | AATAA(A/T)AATAA | intron-variant, upstream-variant-2KB |
Residual Variation Intolerance Score:
8.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.79;
66.83% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HIP1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIP1 Gene
Disorders for HIP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| huntington disease |
|
|
| chronic myelomonocytic leukemia |
|
|
| prostate cancer |
|
|
| spinal disease |
|
|
Search HIP1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
HIP1_HUMAN- 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 (PubMed:9616134). The chimeric HIP1-PDGFRB transcript results from an in-frame fusion of the two genes (PubMed:9616134). The reciprocal PDGFRB-HIP1 transcript is not expressed (PubMed:9616134). {ECO:0000269 PubMed:9616134}.
Relevant External Links for HIP1
No data available for Genatlas for HIP1 Gene
Publications for HIP1 Gene
- HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. (PMID: 9140394) Kalchman M.A. … Hayden M.R. (Nat. Genet. 1997) 2 3 4 22 64
- HIP-I: a huntingtin interacting protein isolated by the yeast two- hybrid system. (PMID: 9147654) Wanker E.E. … Lehrach H. (Hum. Mol. Genet. 1997) 2 3 4 22 64
- Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease. (PMID: 16847693) Metzger S. … Riess O. (Hum. Genet. 2006) 3 22 46 64
- 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. (PMID: 15533940) Chen C.-Y. … Brodsky F.M. (J. Biol. Chem. 2005) 3 4 22 64
- Huntingtin interacting protein 1 modulates the transcriptional activity of nuclear hormone receptors. (PMID: 16027218) Mills I.G. … Neal D.E. (J. Cell Biol. 2005) 3 4 22 64
Products for HIP1 Gene
- Browse R&D Systems for Antibodies
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- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for HIP1
- Search Origene for MassSpec and Protein Over-expression Lysates for HIP1
- Origene Custom Protein Services for HIP1
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HIP1
- Browse OriGene Inhibitory RNA Products For HIP1
- OriGene qPCR primer pairs and template standards for HIP1
- OriGene qPCR primer pairs for HIP1
- OriGene CRISPR knockouts for HIP1
- OriGene ORF clones in human for HIP1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HIP1
- GenScript: Next-day shipping cDNA ORF clone for HIP1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for HIP1
- GenScript Custom Assay Services for HIP1
- GenScript Custom overexpressing Cell Line Services for HIP1
- GenScript: Design CRISPR guide RNA sequences for HIP1
- Design optimal peptide antigens
- 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
- GenScript Custom Peptide Services for HIP1
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for HIP1
- Novus Biologicals proteins and lysates for HIP1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies at Cloud-Clone Corp.
- Cloud-Clone Corp. Proteins for HIP1
- Browse Assay Kits at Cloud-Clone Corp.
- Invitrogen Antibodies for HIP1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for HIP1
- antibodies-online Antibodies for HIP1: See all 50
- antibodies-online Kits for HIP1: See all 2
- antibodies-online Proteins for HIP1: See all 4
- Search antibodies-online for peptides
- GeneTex HIP1 antibody for HIP1
- Search GeneTex for Proteins for HIP1
- ViGene Biosciences adenoviral particle packaged cDNA for HIP1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for HIP1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for HIP1 gene
- Search ViGene Biosciences for HIP1
- Santa Cruz Biotechnology (SCBT) Antibodies for HIP1
- Search Santa Cruz Biotechnology (SCBT) for HIP1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HIP1
- Horizon Cell Lines for HIP1
- Cyagen custom Knockout/knockin (KOKI) mouse models for HIP1
- VectorBuilder custom plasmid, inducible vectors for HIP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HIP1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HIP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer