======= HAP1 ======= == Gene Information == * **Official Symbol**: HAP1 * **Official Name**: huntingtin associated protein 1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=9001|9001]] * **UniProt**: [[https://www.uniprot.org/uniprot/P54257|P54257]] * **Interactions**: [[https://thebiogrid.org/search.php?search=HAP1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20HAP1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/600947|Open OMIM]] == Function Summary == * **Entrez Summary**: N/A * **UniProt Summary**: Originally identified as neuronal protein that specifically associates with HTT/huntingtin and the binding is enhanced by an expanded polyglutamine repeat within HTT possibly affecting HAP1 interaction properties. Both HTT and HAP1 are involved in intracellular trafficking and HAP1 is proposed to link HTT to motor proteins and/or transport cargos. Seems to play a role in vesicular transport within neurons and axons such as from early endosomes to late endocytic compartments and to promote neurite outgrowth. The vesicular transport function via association with microtubule-dependent transporters can be attenuated by association with mutant HTT. Involved in the axonal transport of BDNF and its activity-dependent secretion; the function seems to involve HTT, DCTN1 and a complex with SORT1. Involved in APP trafficking and seems to facilitate APP anterograde transport and membrane insertion thereby possibly reducing processing into amyloid beta. Involved in delivery of gamma-aminobutyric acid (GABA(A)) receptors to synapses; the function is dependent on kinesin motor protein KIF5 and is disrupted by HTT with expanded polyglutamine repeat. Involved in regulation of autophagosome motility by promoting efficient retrograde axonal transport. Seems to be involved in regulation of membrane receptor recycling and degradation, and respective signal transduction, including GABA(A) receptors, tyrosine kinase receptors, EGFR, IP3 receptor and androgen receptor. Among others suggested to be involved in control of feeding behavior (involving hypothalamic GABA(A) receptors), cerebellar and brainstem development (involving AHI1 and NTRK1/TrkA), postnatal neurogenesis (involving hypothalamic NTRK2/TrkB), and ITPR1/InsP3R1-mediated Ca(2+) release (involving HTT and possibly the effect of mutant HTT). Via association with DCTN1/dynactin p150-glued and HTT/huntingtin involved in cytoplasmic retention of REST in neurons. May be involved in ciliogenesis. Involved in regulation of exocytosis. Seems to be involved in formation of cytoplasmic inclusion bodies (STBs). In case of anomalous expression of TBP, can sequester a subset of TBP into STBs; sequestration is enhanced by an expanded polyglutamine repeat within TBP. HAP1-containing STBs have been proposed to play a protective role against neurodegeneration in Huntigton disease (HD) and spinocerebellar ataxia 17 (SCA17). {ECO:0000269|PubMed:18922795}. |HAP1 N| |positive regulation of neurotrophin production| |brain-derived neurotrophic factor binding| |regulation of neurotrophin production| |anterograde axonal transport of mitochondrion| |positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity| |regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity| |hypothalamus cell differentiation| |positive regulation of non-motile cilium assembly| |regulation of organelle transport along microtubule| |axonal transport of mitochondrion| |positive regulation of synaptic transmission, GABAergic| |negative regulation of amyloid-beta formation| |regulation of non-motile cilium assembly| |negative regulation of amyloid precursor protein catabolic process| |mitochondrion distribution| |retrograde axonal transport| |inclusion body| |neurotrophin TRK receptor signaling pathway| |mitochondrion transport along microtubule| |establishment of mitochondrion localization, microtubule-mediated| |hypothalamus development| |myosin binding| |establishment of mitochondrion localization| |positive regulation of cilium assembly| |regulation of amyloid-beta formation| |neurotrophin signaling pathway| |regulation of microtubule-based movement| |positive regulation of epidermal growth factor receptor signaling pathway| |regulation of synaptic transmission, GABAergic| |regulation of amyloid precursor protein catabolic process| |positive regulation of ERBB signaling pathway| |positive regulation of calcium ion transmembrane transporter activity| |positive regulation of release of sequestered calcium ion into cytosol| |positive regulation of calcium-mediated signaling| |vesicle transport along microtubule| |anterograde axonal transport| |mitochondrion localization| |vesicle cytoskeletal trafficking| |positive regulation of calcium ion transport into cytosol| |axonal transport| |axon cytoplasm| |axo-dendritic transport| |positive regulation of cation channel activity| |autophagosome| |positive regulation of calcium ion transmembrane transport| |positive regulation of organelle assembly| |diencephalon development| |regulation of release of sequestered calcium ion into cytosol| |organelle transport along microtubule| |regulation of cilium assembly| |regulation of epidermal growth factor receptor signaling pathway| |regulation of calcium ion transmembrane transporter activity| |regulation of ERBB signaling pathway| |regulation of calcium-mediated signaling| |regulation of calcium ion transport into cytosol| |positive regulation of plasma membrane bounded cell projection assembly| |cerebellum development| |positive regulation of ion transmembrane transporter activity| |limbic system development| |metencephalon development| |positive regulation of transporter activity| |synaptic vesicle| |positive regulation of calcium ion transport| |regulation of sequestering of calcium ion| |ion channel binding| |centriole| |positive regulation of cation transmembrane transport| |regulation of calcium ion transmembrane transport| |negative regulation of cellular amide metabolic process| |positive regulation of synaptic transmission| |hindbrain development| |positive regulation of ion transmembrane transport| |transport along microtubule| |regulation of cation channel activity| |establishment of vesicle localization| |cytoskeleton-dependent intracellular transport| |microtubule-based transport| |vesicle localization| |regulation of plasma membrane bounded cell projection assembly| |positive regulation of transmembrane transport| |regulation of cell projection assembly| |actin cytoskeleton| |regulation of organelle assembly| |regulation of microtubule-based process| |regulation of exocytosis| |regulation of calcium ion transport| |lysosome| |cytoplasmic vesicle| |regulation of ion transmembrane transporter activity| |process utilizing autophagic mechanism| |autophagy| |regulation of transmembrane transporter activity| |microtubule-based movement| |positive regulation of ion transport| |regulation of transporter activity| |positive regulation of cytosolic calcium ion concentration| |regulation of cytosolic calcium ion concentration| |regulation of cation transmembrane transport| |signaling receptor binding| |regulation of intracellular transport| |protein targeting| |establishment of organelle localization| |cytoskeleton| |positive regulation of cell projection organization| |forebrain development| |regulation of metal ion transport| |regulation of cellular amide metabolic process| |dendrite| |chemical synaptic transmission| |anterograde trans-synaptic signaling| |cellular calcium ion homeostasis| |trans-synaptic signaling| |mitochondrion organization| |modulation of chemical synaptic transmission| |regulation of trans-synaptic signaling| |calcium ion homeostasis| |synaptic signaling| |cellular divalent inorganic cation homeostasis| |positive regulation of neurogenesis| |regulation of ion transmembrane transport| |divalent inorganic cation homeostasis| |centrosome| |cellular response to growth factor stimulus| |transmembrane receptor protein tyrosine kinase signaling pathway| |positive regulation of cellular component biogenesis| |response to growth factor| |positive regulation of nervous system development| |positive regulation of cell development| |cell junction| |regulation of vesicle-mediated transport| |cellular metal ion homeostasis| |regulation of transmembrane transport| |organelle localization| |positive regulation of organelle organization| |metal ion homeostasis| |cellular cation homeostasis| |cellular ion homeostasis| |microtubule-based process| |regulation of plasma membrane bounded cell projection organization| |regulation of ion transport| |cation homeostasis| |regulation of cell projection organization| |enzyme linked receptor protein signaling pathway| |inorganic ion homeostasis| |brain development| |cellular chemical homeostasis| |regulation of secretion by cell| |head development| |ion homeostasis| |exocytosis| |regulation of secretion| |regulation of neurogenesis| |cellular homeostasis| |regulation of cellular localization| |regulation of nervous system development| |regulation of cell development| |regulation of cellular component biogenesis| |positive regulation of cell differentiation| |central nervous system development| |positive regulation of transport| |regulation of cellular component movement| |intracellular protein transport| |secretion by cell| |endoplasmic reticulum| |positive regulation of intracellular signal transduction| |export from cell| |negative regulation of protein metabolic process| |chemical homeostasis| |cell-cell signaling| |secretion| |cell projection organization| |positive regulation of cellular component organization| |mitochondrion| |regulation of organelle organization| |positive regulation of developmental process| |protein transport| |intracellular transport| |generation of neurons| |peptide transport| |movement of cell or subcellular component| |amide transport| |cellular protein localization| |cellular macromolecule localization| |establishment of protein localization| |neurogenesis| |homeostatic process| |positive regulation of signal transduction| |positive regulation of multicellular organismal process| |positive regulation of molecular function| |cellular catabolic process| |regulation of cell differentiation| |positive regulation of cell communication| |positive regulation of signaling| |regulation of intracellular signal transduction| |establishment of localization in cell| |nitrogen compound transport| |regulation of transport| |vesicle-mediated transport| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp524|Staurosporine 0.02μM R08 exp524]]|-1.88| |[[:results:exp503|Mitomycin-C 0.06μM R08 exp503]]|-1.7| |[[:results:exp224|CB-839 10μM R05 exp224]]|1.78| |[[:results:exp14|Cycloheximide 0.02μM R00 exp14]]|1.8| |[[:results:exp31|Rifampicin 1μM R00 exp31]]|1.88| |[[:results:exp223|Cabazitaxel 0.001μM R05 exp223]]|1.89| |[[:results:exp165|RO-3306 3 to 4μM on day4 R04 exp165]]|2.17| |[[:results:exp310|2-Methoxyestradiol 0.55μM R07 exp310]]|2.37| |[[:results:exp303|39°C R06 exp303]]|2.4| |[[:results:exp300|VE-822 0.04μM R06 exp300]]|2.84| ^Gene^Correlation^ |[[:human genes:p:psmb4|PSMB4]]|0.558| |[[:human genes:n:nupl1|NUPL1]]|0.555| |[[:human genes:t:twistnb|TWISTNB]]|0.549| |[[:human genes:p:psmd1|PSMD1]]|0.547| |[[:human genes:t:tceb3cl2|TCEB3CL2]]|0.533| |[[:human genes:t:tbc1d3f|TBC1D3F]]|0.527| |[[:human genes:v:vasn|VASN]]|0.522| |[[:human genes:c:cdc73|CDC73]]|0.518| |[[:human genes:t:tceb3c|TCEB3C]]|0.516| |[[:human genes:c:c1qtnf9b|C1QTNF9B]]|0.508| |[[:human genes:c:c14orf93|C14orf93]]|0.506| |[[:human genes:c:ccdc94|CCDC94]]|0.504| |[[:human genes:t:tceb3cl|TCEB3CL]]|0.498| |[[:human genes:p:psma6|PSMA6]]|0.498| |[[:human genes:f:fam160a1|FAM160A1]]|0.497| |[[:human genes:z:zfand5|ZFAND5]]|0.495| |[[:human genes:d:ddtl|DDTL]]|0.494| |[[:human genes:c:cdc6|CDC6]]|0.493| |[[:human genes:k:kctd17|KCTD17]]|0.491| |[[:human genes:p:pola2|POLA2]]|0.491| |[[:human genes:t:terf2|TERF2]]|0.488| |[[:human genes:s:syt9|SYT9]]|0.487| |[[:human genes:c:cwc22|CWC22]]|0.485| |[[:human genes:r:rpl35|RPL35]]|0.484| |[[:human genes:p:polr2j3|POLR2J3]]|0.483| |[[:human genes:h:hist2h3a|HIST2H3A]]|0.482| |[[:human genes:h:hist2h3c|HIST2H3C]]|0.482| |[[:human genes:c:copg1|COPG1]]|0.482| |[[:human genes:o:orc1|ORC1]]|0.481| |[[:human genes:m:med17|MED17]]|0.479| |[[:human genes:p:psmd11|PSMD11]]|0.479| |[[:human genes:t:tbc1d3g|TBC1D3G]]|0.479| |[[:human genes:p:psmc1|PSMC1]]|0.478| |[[:human genes:c:copa|COPA]]|0.478| |[[:human genes:h:hist1h2be|HIST1H2BE]]|0.478| |[[:human genes:a:akirin2|AKIRIN2]]|0.475| |[[:human genes:r:rad51|RAD51]]|0.474| |[[:human genes:r:rpl6|RPL6]]|0.473| |[[:human genes:k:krt78|KRT78]]|0.471| |[[:human genes:c:cdc45|CDC45]]|0.471| |[[:human genes:s:slc4a1|SLC4A1]]|0.47| |[[:human genes:t:tbc1d3c|TBC1D3C]]|0.47| |[[:human genes:c:chd4|CHD4]]|0.469| |[[:human genes:u:upf1|UPF1]]|0.469| |[[:human genes:r:rad21|RAD21]]|0.467| |[[:human genes:c:ccna2|CCNA2]]|0.466| |[[:human genes:s:stil|STIL]]|0.465| |[[:human genes:s:smg7|SMG7]]|0.465| |[[:human genes:t:tbc1d3h|TBC1D3H]]|0.465| |[[:human genes:o:orc6|ORC6]]|0.464| |[[:human genes:c:cmya5|CMYA5]]|0.464| |[[:human genes:s:sec13|SEC13]]|0.463| |[[:human genes:t:tbc1d3|TBC1D3]]|0.463| |[[:human genes:l:lrr1|LRR1]]|0.463| |[[:human genes:n:nup160|NUP160]]|0.462| |[[:human genes:a:ankle2|ANKLE2]]|0.46| |[[:human genes:r:rrp15|RRP15]]|0.46| |[[:human genes:t:top1mt|TOP1MT]]|0.459| |[[:human genes:r:rbbp5|RBBP5]]|0.459| |[[:human genes:r:rps2|RPS2]]|0.458| |[[:human genes:g:golga6l6|GOLGA6L6]]|0.458| |[[:human genes:r:rps12|RPS12]]|0.457| |[[:human genes:p:pan2|PAN2]]|0.456| |[[:human genes:s:supt6h|SUPT6H]]|0.456| |[[:human genes:p:psmc2|PSMC2]]|0.456| |[[:human genes:c:col2a1|COL2A1]]|0.452| |[[:human genes:p:psmc6|PSMC6]]|0.451| |[[:human genes:r:rpsa|RPSA]]|0.451| |[[:human genes:c:cbwd5|CBWD5]]|0.45| |[[:human genes:m:msh5|MSH5]]|0.449| |[[:human genes:n:nbpf10|NBPF10]]|0.449| |[[:human genes:c:cactin|CACTIN]]|0.448| |[[:human genes:p:polr2f|POLR2F]]|0.447| |[[:human genes:c:cbwd3|CBWD3]]|0.447| |[[:human genes:m:mt1e|MT1E]]|0.446| |[[:human genes:r:rfxank|RFXANK]]|0.446| |[[:human genes:t:ttc31|TTC31]]|0.444| |[[:human genes:d:disp2|DISP2]]|0.444| |[[:human genes:s:sf3a1|SF3A1]]|0.444| |[[:human genes:t:tbc1d3k|TBC1D3K]]|0.443| |[[:human genes:s:snip1|SNIP1]]|0.443| |[[:human genes:t:tbc1d3l|TBC1D3L]]|0.443| |[[:human genes:a:aqr|AQR]]|0.443| |[[:human genes:t:tfip11|TFIP11]]|0.443| |[[:human genes:s:slc6a17|SLC6A17]]|0.443| |[[:human genes:p:psmb1|PSMB1]]|0.443| |[[:human genes:t:tbc1d3e|TBC1D3E]]|0.442| |[[:human genes:t:tspy8|TSPY8]]|0.442| |[[:human genes:t:tbc1d3i|TBC1D3I]]|0.442| |[[:human genes:p:polr2d|POLR2D]]|0.441| |[[:human genes:c:cdca3|CDCA3]]|0.44| |[[:human genes:d:dtl|DTL]]|0.44| |[[:human genes:c:cope|COPE]]|0.438| |[[:human genes:n:npipb5|NPIPB5]]|0.437| |[[:human genes:s:scaf1|SCAF1]]|0.437| |[[:human genes:n:nbpf16|NBPF16]]|0.437| |[[:human genes:n:nol8|NOL8]]|0.436| |[[:human genes:s:snrpa1|SNRPA1]]|0.436| |[[:human genes:t:tspy1|TSPY1]]|0.435| |[[:human genes:c:copz1|COPZ1]]|0.435| |[[:human genes:e:exosc5|EXOSC5]]|0.435| |[[:human genes:a:adrm1|ADRM1]]|0.434| |[[:human genes:n:nfatc4|NFATC4]]|0.434| |[[:human genes:d:dnttip2|DNTTIP2]]|0.434| |[[:human genes:t:ticrr|TICRR]]|0.434| |[[:human genes:p:psmd3|PSMD3]]|0.432| |[[:human genes:m:mki67ip|MKI67IP]]|0.432| |[[:human genes:c:ccdc64b|CCDC64B]]|0.431| |[[:human genes:t:terf1|TERF1]]|0.431| |[[:human genes:r:rps9|RPS9]]|0.431| |[[:human genes:s:supt5h|SUPT5H]]|0.429| |[[:human genes:d:dock6|DOCK6]]|0.429| |[[:human genes:l:lad1|LAD1]]|0.428| |[[:human genes:r:rps28|RPS28]]|0.428| |[[:human genes:r:rilpl2|RILPL2]]|0.428| |[[:human genes:z:znf541|ZNF541]]|0.427| |[[:human genes:m:med14|MED14]]|0.426| |[[:human genes:d:dido1|DIDO1]]|0.426| |[[:human genes:s:slc38a7|SLC38A7]]|0.423| |[[:human genes:p:ppfia4|PPFIA4]]|0.423| |[[:human genes:p:psmb3|PSMB3]]|0.423| |[[:human genes:t:topbp1|TOPBP1]]|0.423| |[[:human genes:o:or10g3|OR10G3]]|0.422| |[[:human genes:n:nup205|NUP205]]|0.422| |[[:human genes:a:arcn1|ARCN1]]|0.421| |[[:human genes:p:psmd2|PSMD2]]|0.421| |[[:human genes:h:hist1h4b|HIST1H4B]]|0.421| |[[:human genes:f:fam86b2|FAM86B2]]|0.421| |[[:human genes:r:rnf121|RNF121]]|0.421| |[[:human genes:i:igfn1|IGFN1]]|0.42| |[[:human genes:p:prpf8|PRPF8]]|0.419| |[[:human genes:a:atxn1|ATXN1]]|0.419| |[[:human genes:s:sema6b|SEMA6B]]|0.418| |[[:human genes:p:psmc4|PSMC4]]|0.418| |[[:human genes:u:ubl5|UBL5]]|0.418| |[[:human genes:n:npipb8|NPIPB8]]|0.418| |[[:human genes:c:cbwd6|CBWD6]]|0.418| |[[:human genes:h:hivep3|HIVEP3]]|0.417| |[[:human genes:p:pwp2|PWP2]]|0.416| |[[:human genes:p:psmd14|PSMD14]]|0.416| |[[:human genes:m:myb|MYB]]|0.416| |[[:human genes:c:cep192|CEP192]]|0.415| |[[:human genes:c:chchd3|CHCHD3]]|0.415| |[[:human genes:r:rps5|RPS5]]|0.415| |[[:human genes:s:smg1|SMG1]]|0.414| |[[:human genes:z:znf106|ZNF106]]|0.414| |[[:human genes:n:nup43|NUP43]]|0.414| |[[:human genes:p:pan3|PAN3]]|0.414| |[[:human genes:r:rpl30|RPL30]]|0.413| |[[:human genes:r:rpl14|RPL14]]|0.413| |[[:human genes:p:palb2|PALB2]]|0.412| |[[:human genes:u:uqcrh|UQCRH]]|0.411| |[[:human genes:s:snrnp200|SNRNP200]]|0.409| |[[:human genes:f:fbxo5|FBXO5]]|0.409| |[[:human genes:d:dhx9|DHX9]]|0.408| |[[:human genes:p:psma7|PSMA7]]|0.408| |[[:human genes:t:tp53tg3d|TP53TG3D]]|0.408| |[[:human genes:r:rps14|RPS14]]|0.408| |[[:human genes:b:bcl2l1|BCL2L1]]|0.407| |[[:human genes:e:esf1|ESF1]]|0.407| |[[:human genes:h:hnrnpa1|HNRNPA1]]|0.407| |[[:human genes:o:ogfr|OGFR]]|0.407| |[[:human genes:m:myo1h|MYO1H]]|0.407| |[[:human genes:d:ddt|DDT]]|0.406| |[[:human genes:s:s1pr4|S1PR4]]|0.405| |[[:human genes:c:copb1|COPB1]]|0.405| |[[:human genes:p:pla2g4f|PLA2G4F]]|0.405| |[[:human genes:w:wdr87|WDR87]]|0.405| |[[:human genes:p:pde4dip|PDE4DIP]]|0.405| |[[:human genes:f:fam25b|FAM25B]]|0.404| |[[:human genes:c:chmp4b|CHMP4B]]|0.403| |[[:human genes:r:riok2|RIOK2]]|0.403| |[[:human genes:r:ranbp2|RANBP2]]|0.402| |[[:human genes:g:golga8o|GOLGA8O]]|0.402| |[[:human genes:c:copb2|COPB2]]|0.401| |[[:human genes:c:cox8a|COX8A]]|0.401| |[[:human genes:g:gon4l|GON4L]]|0.401| |[[:human genes:g:gid4|GID4]]|0.401| |[[:human genes:u:ubap1|UBAP1]]|0.4| 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| == Essentiality in NALM6 == * **Essentiality Rank**: 1397 * **Expression level (log2 read counts)**: 4.77 {{:chemogenomics:nalm6 dist.png?nolink |}}