| Gene Symbol |
Hip1
|
| Entrez Gene |
215114
|
| Alt Symbol |
2610109B09Rik, A930014B11Rik, E130315I21Rik, mKIAA4113
|
| Species |
Mouse
|
| Gene Type |
protein-coding
|
| Description |
huntingtin interacting protein 1
|
| Other Description |
HIP-I|hip1|huntingtin-interacting protein 1|huntingtin-interacting protein I
|
| Swissprots |
Q571K7 Q8VD75 Q3TLS2
|
| Accessions |
EDL19363 EDL19364 EDL19365 Q8VD75 AK011828 AK020853 BAB32229 AK049237 AK053860 AK087586 BAC39937 AK147246 AK147269 AK163971 AK166346 BAE38720 AK220182 BAD90367 BC017516 AAH17516 BY309818 CF746398 XM_006504415 XP_006504478 XM_011240878 XP_011239180 XM_011240879 XP_011239181 XR_868560 NM_146001 NP_666113
|
| 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:0000250|UniProtKB:O00291, ECO:0000269|PubMed:11577110, ECO:0000269|PubMed:11604514, ECO:0000269|PubMed:12839988, ECO:0000269|PubMed:14998932, ECO:0000269|PubMed:16967501, ECO:0000269|PubMed:17329427}.
|
| Subcellular Location |
Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Endomembrane system {ECO:0000250}. Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250}. Note=Shuttles between cytoplasm and nucleus. Nuclear translocation can be induced by AR (By similarity). {ECO:0000250}.
|
| Tissue Specificity |
Most abundantly expressed in brain. In brain, expressed in cortical tissue, hippocampus, the molecular layer of the cerebellum and olfactory bulb. Also expressed in spinal cord and bone marrow (at protein level). Expressed in reproductive tissues. {ECO:0000269|PubMed:11604514, ECO:0000269|PubMed:12839988, ECO:0000269|PubMed:14998932, ECO:0000269|PubMed:16967501, ECO:0000269|PubMed:9140394}.
|
| Top Pathways |
Huntington's disease
|
