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Ask your administrator if you think this is wrong. ======= HIP1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: HIP1 * **<color #00a2e8>Official Name</color>**: huntingtin interacting protein 1 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=3092|3092]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O00291|O00291]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=HIP1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20HIP1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601767|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: 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). {ECO:0000250|UniProtKB:Q8VD75, ECO:0000269|PubMed:11007801, ECO:0000269|PubMed:11532990, ECO:0000269|PubMed:11577110, ECO:0000269|PubMed:11889126, ECO:0000269|PubMed:12163454, ECO:0000269|PubMed:14732715, ECO:0000269|PubMed:16027218, ECO:0000269|PubMed:18790740, ECO:0000269|PubMed:9147654}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |I LWEQ| |ENTH| |ANTH| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |positive regulation of platelet-derived growth factor receptor-beta signaling pathway| |extrinsic component of postsynaptic membrane| |extrinsic component of presynaptic membrane| |positive regulation of platelet-derived growth factor receptor signaling pathway| |glutamate receptor binding| |clathrin light chain binding| |regulation of platelet-derived growth factor receptor-beta signaling pathway| |AP-2 adaptor complex binding| |clathrin adaptor activity| |AP-2 adaptor complex| |actin cortical patch| |clathrin coat assembly| |regulation of platelet-derived growth factor receptor signaling pathway| |clathrin-dependent endocytosis| |phosphatidylinositol-3,5-bisphosphate binding| |phosphatidylinositol-3,4-bisphosphate binding| |positive regulation of epidermal growth factor receptor signaling pathway| |epidermal growth factor receptor binding| |positive regulation of ERBB signaling pathway| |neurotransmitter receptor transport| |clathrin binding| |phosphatidylinositol-3-phosphate binding| |positive regulation of receptor-mediated endocytosis| |clathrin-coated vesicle| |extrinsic component of cytoplasmic side of plasma membrane| |phosphatidylinositol-4,5-bisphosphate binding| |regulation of epidermal growth factor receptor signaling pathway| |postsynapse| |activation of cysteine-type endopeptidase activity involved in apoptotic process| |phosphatidylinositol binding| |regulation of ERBB signaling pathway| |presynapse| |regulation of receptor-mediated endocytosis| |positive regulation of endocytosis| |structural constituent of cytoskeleton| |positive regulation of cysteine-type endopeptidase activity involved in apoptotic process| |positive regulation of cysteine-type endopeptidase activity| |positive regulation of protein kinase B signaling| |positive regulation of endopeptidase activity| |protein stabilization| |positive regulation of peptidase activity| |actin filament binding| |regulation of endocytosis| |regulation of cysteine-type endopeptidase activity involved in apoptotic process| |regulation of protein kinase B signaling| |receptor-mediated endocytosis| |actin filament organization| |regulation of cysteine-type endopeptidase activity| |protein-containing complex localization| |apoptotic signaling pathway| |regulation of protein stability| |glutamatergic synapse| |positive regulation of proteolysis| |cytoskeleton| |regulation of endopeptidase activity| |regulation of peptidase activity| |supramolecular fiber organization| |protein heterodimerization activity| |actin cytoskeleton organization| |regulation of vesicle-mediated transport| |endocytosis| |actin filament-based process| |positive regulation of apoptotic process| |positive regulation of programmed cell death| |import into cell| |intracellular membrane-bounded organelle| |positive regulation of cell death| |regulation of proteolysis| |positive regulation of hydrolase activity| |cellular protein-containing complex assembly| |membrane organization| |protein homodimerization activity| |apoptotic process| |Golgi apparatus| |positive regulation of transport| |positive regulation of intracellular signal transduction| |programmed cell death| |cell death| |cytoskeleton organization| |positive regulation of cellular component organization| |regulation of hydrolase activity| |positive regulation of catalytic activity| |protein transport| |peptide transport| |regulation of apoptotic process| |protein-containing complex assembly| |regulation of programmed cell death| |amide transport| |positive regulation of cellular protein metabolic process| |establishment of protein localization| |positive regulation of signal transduction| |regulation of cell death| |positive regulation of protein metabolic process| |positive regulation of molecular function| |positive regulation of cell communication| |positive regulation of signaling| |regulation of intracellular signal transduction| |nitrogen compound transport| |protein-containing complex subunit organization| |regulation of transport| |vesicle-mediated transport| |membrane| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp228|Demecolcine 0.03μM R05 exp228]]|-1.96| |[[:results:exp114|A-196 10μM R03 exp114]]|-1.9| |[[:results:exp146|Quinacrine 2.5μM R03 exp146]]|-1.89| |[[:results:exp99|NFN1 0.4μM R03 exp99]]|2.27| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> ^Gene^Correlation^ |[[:human genes:p:polr2j3|POLR2J3]]|0.49| </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 9095 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.14 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='HIP1 Expression in NALM6 Cells: 5.14'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1