Version 5.4
Homo sapiens Gene: HIP1
Summary
InnateDB Gene IDBG-22641.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HIP1
Gene Name huntingtin interacting protein 1
Synonyms HIP-I; ILWEQ
Species Homo sapiens
Ensembl Gene ENSG00000127946
Encoded Proteins
IDBP-22643
huntingtin interacting protein 1
IDBP-379481
huntingtin interacting protein 1
IDBP-379486
huntingtin interacting protein 1
IDBP-811760
huntingtin interacting protein 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:75533300-75738962
Strand Reverse strand
Band q11.23
Transcripts
ENST00000336926 ENSP00000336747
ENST00000404944
ENST00000434438 ENSP00000410300
ENST00000420909 ENSP00000414280
ENST00000485723
ENST00000479835
ENST00000616821 ENSP00000484528
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
Experimentally validated
Total 30 [view]
Protein-Protein 29 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005200 structural constituent of cytoskeleton
GO:0005488 binding
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0030276 clathrin binding
GO:0035091 phosphatidylinositol binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006897 endocytosis
GO:0006915 apoptotic process
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0030154 cell differentiation
GO:0042981 regulation of apoptotic process
GO:0048260 positive regulation of receptor-mediated endocytosis
GO:0048268 clathrin coat assembly
GO:0097190 apoptotic signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005856 cytoskeleton
GO:0016020 membrane
GO:0030136 clathrin-coated vesicle
GO:0030665 clathrin-coated vesicle membrane
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000039959
View Gene Order
ENSBTAG00000000781
Not yet available
Pathways
NETPATH
NetPath_4
EGFR1 pathway
REACTOME
KEGG
hsa05016
Huntington's disease pathway
INOH
PID NCI
ar_pathway
Coregulation of Androgen receptor activity
Cross-References
SwissProt O00291
TrEMBL B4DK46 B4DYD7 C9JMG5 Q8TDA4 V5LU97
UniProt Splice Variant
Entrez Gene 3092
UniGene Hs.329266 Hs.619089 Hs.619745 Hs.623433 Hs.639227
RefSeq NM_001243198 NM_005338 XM_005250304 XM_005250305
HUGO HGNC:4913
OMIM 601767
CCDS CCDS34669 CCDS59060
HPRD
IMGT
EMBL AC004491 AC018720 AF365404 AF486833 AH006397 AK296390 AK302382 AK304738 BC110545 KF437291 U79734 Y09420
GenPept AAC33564 AAC51257 AAI10546 AAL87037 AAL93198 AHA56631 BAG59058 BAG63699 BAG65499 CAA70574
RNA Seq Atlas 3092

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca