Homo sapiens Protein: HIP1 | |||||||||||||||||||||
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Summary | |||||||||||||||||||||
InnateDB Protein | IDBP-22643.6 | ||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||
Gene Symbol | HIP1 | ||||||||||||||||||||
Protein Name | huntingtin interacting protein 1 | ||||||||||||||||||||
Synonyms | HIP-I; ILWEQ; | ||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||
Ensembl Protein | ENSP00000336747 | ||||||||||||||||||||
InnateDB Gene | IDBG-22641 (HIP1) | ||||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||||
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. {ECO:0000269PubMed:11007801, ECO:0000269PubMed:11532990, ECO:0000269PubMed:11577110, ECO:0000269PubMed:11889126, ECO:0000269PubMed:12163454, ECO:0000269PubMed:14732715, ECO:0000269PubMed:16027218, ECO:0000269PubMed:9147654}. | ||||||||||||||||||||
Subcellular Localization | Cytoplasm. Nucleus. Endomembrane system. Cytoplasmic vesicle, clathrin-coated vesicle membrane. Note=Shuttles between cytoplasm and nucleus. Nuclear translocation can be induced by AR. | ||||||||||||||||||||
Disease Associations | 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. | ||||||||||||||||||||
Tissue Specificity | Ubiquitously expressed with the highest level in brain. Expression is up-regulated in prostate and colon cancer. {ECO:0000269PubMed:12163454, ECO:0000269PubMed:9140394, ECO:0000269PubMed:9147654}. | ||||||||||||||||||||
Comments | |||||||||||||||||||||
Interactions | |||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||
PDB ID | |||||||||||||||||||||
InterPro |
IPR001026
Epsin domain, N-terminal IPR002558 I/LWEQ domain IPR008942 ENTH/VHS IPR009053 Prefoldin IPR011417 AP180 N-terminal homology (ANTH) domain IPR013809 Epsin-like, N-terminal IPR016024 Armadillo-type fold |
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PFAM |
PF01417
PF01608 PF07651 |
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PRINTS | |||||||||||||||||||||
PIRSF | |||||||||||||||||||||
SMART |
SM00307
SM00273 |
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TIGRFAMs | |||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||
Modification | |||||||||||||||||||||
Cross-References | |||||||||||||||||||||
SwissProt | O00291 | ||||||||||||||||||||
PhosphoSite | PhosphoSite-O00291 | ||||||||||||||||||||
TrEMBL | Q8TDA4 | ||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||
Entrez Gene | 3092 | ||||||||||||||||||||
UniGene | Hs.639227 | ||||||||||||||||||||
RefSeq | NP_005329 | ||||||||||||||||||||
HUGO | HGNC:4913 | ||||||||||||||||||||
OMIM | 601767 | ||||||||||||||||||||
CCDS | CCDS34669 | ||||||||||||||||||||
HPRD | 03461 | ||||||||||||||||||||
IMGT | |||||||||||||||||||||
EMBL | AC004491 AC018720 AF365404 AF486833 AH006397 AK296390 AK302382 AK304738 BC110545 U79734 Y09420 | ||||||||||||||||||||
GenPept | AAC33564 AAC51257 AAI10546 AAL87037 AAL93198 BAG59058 BAG63699 BAG65499 CAA70574 | ||||||||||||||||||||