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Phosphatidylinositol binding clathrin assembly protein (HGNC Symbol)
Entrez gene summary
This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
Q13492 [Direct mapping] Phosphatidylinositol-binding clathrin assembly protein
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MEMSAT3 predicted membrane proteins Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding] GO:0005543 [phospholipid binding] GO:0005545 [1-phosphatidylinositol binding] GO:0005634 [nucleus] GO:0005794 [Golgi apparatus] GO:0005905 [coated pit] GO:0006461 [protein complex assembly] GO:0006898 [receptor-mediated endocytosis] GO:0008283 [cell proliferation] GO:0010629 [negative regulation of gene expression] GO:0016020 [membrane] GO:0016188 [synaptic vesicle maturation] GO:0016192 [vesicle-mediated transport] GO:0016197 [endosomal transport] GO:0030100 [regulation of endocytosis] GO:0030122 [AP-2 adaptor complex] GO:0030132 [clathrin coat of coated pit] GO:0030276 [clathrin binding] GO:0031623 [receptor internalization] GO:0031982 [vesicle] GO:0032050 [clathrin heavy chain binding] GO:0032880 [regulation of protein localization] GO:0035459 [cargo loading into vesicle] GO:0035615 [clathrin adaptor activity] GO:0042734 [presynaptic membrane] GO:0043025 [neuronal cell body] GO:0043231 [intracellular membrane-bounded organelle] GO:0045211 [postsynaptic membrane] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0048261 [negative regulation of receptor-mediated endocytosis] GO:0048268 [clathrin coat assembly] GO:0048471 [perinuclear region of cytoplasm] GO:0055072 [iron ion homeostasis] GO:0072583 [clathrin-mediated endocytosis] GO:0097418 [neurofibrillary tangle] GO:0097459 [iron ion import into cell] GO:1901216 [positive regulation of neuron death] GO:1902004 [positive regulation of beta-amyloid formation] GO:1902959 [regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process] GO:1902961 [positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process] GO:1902963 [negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process]
MEMSAT3 predicted membrane proteins Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding] GO:0005543 [phospholipid binding] GO:0005545 [1-phosphatidylinositol binding] GO:0005634 [nucleus] GO:0005794 [Golgi apparatus] GO:0005905 [coated pit] GO:0006461 [protein complex assembly] GO:0006898 [receptor-mediated endocytosis] GO:0008283 [cell proliferation] GO:0010629 [negative regulation of gene expression] GO:0016020 [membrane] GO:0016188 [synaptic vesicle maturation] GO:0016192 [vesicle-mediated transport] GO:0016197 [endosomal transport] GO:0030100 [regulation of endocytosis] GO:0030122 [AP-2 adaptor complex] GO:0030132 [clathrin coat of coated pit] GO:0030276 [clathrin binding] GO:0031623 [receptor internalization] GO:0031982 [vesicle] GO:0032050 [clathrin heavy chain binding] GO:0032880 [regulation of protein localization] GO:0035459 [cargo loading into vesicle] GO:0035615 [clathrin adaptor activity] GO:0042734 [presynaptic membrane] GO:0043025 [neuronal cell body] GO:0043231 [intracellular membrane-bounded organelle] GO:0045211 [postsynaptic membrane] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0048261 [negative regulation of receptor-mediated endocytosis] GO:0048268 [clathrin coat assembly] GO:0048471 [perinuclear region of cytoplasm] GO:0055072 [iron ion homeostasis] GO:0072583 [clathrin-mediated endocytosis] GO:0097418 [neurofibrillary tangle] GO:0097459 [iron ion import into cell] GO:1901216 [positive regulation of neuron death] GO:1902004 [positive regulation of beta-amyloid formation] GO:1902959 [regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process] GO:1902961 [positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process] GO:1902963 [negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process]
Q13492 [Direct mapping] Phosphatidylinositol-binding clathrin assembly protein
Show all
MEMSAT3 predicted membrane proteins Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding] GO:0005543 [phospholipid binding] GO:0005545 [1-phosphatidylinositol binding] GO:0005634 [nucleus] GO:0005794 [Golgi apparatus] GO:0005905 [coated pit] GO:0006461 [protein complex assembly] GO:0006898 [receptor-mediated endocytosis] GO:0008283 [cell proliferation] GO:0010629 [negative regulation of gene expression] GO:0016020 [membrane] GO:0016188 [synaptic vesicle maturation] GO:0016192 [vesicle-mediated transport] GO:0016197 [endosomal transport] GO:0030100 [regulation of endocytosis] GO:0030122 [AP-2 adaptor complex] GO:0030132 [clathrin coat of coated pit] GO:0030276 [clathrin binding] GO:0031623 [receptor internalization] GO:0031982 [vesicle] GO:0032050 [clathrin heavy chain binding] GO:0032880 [regulation of protein localization] GO:0035459 [cargo loading into vesicle] GO:0035615 [clathrin adaptor activity] GO:0042734 [presynaptic membrane] GO:0043025 [neuronal cell body] GO:0043231 [intracellular membrane-bounded organelle] GO:0045211 [postsynaptic membrane] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0048261 [negative regulation of receptor-mediated endocytosis] GO:0048268 [clathrin coat assembly] GO:0048471 [perinuclear region of cytoplasm] GO:0055072 [iron ion homeostasis] GO:0072583 [clathrin-mediated endocytosis] GO:0097418 [neurofibrillary tangle] GO:0097459 [iron ion import into cell] GO:1901216 [positive regulation of neuron death] GO:1902004 [positive regulation of beta-amyloid formation] GO:1902959 [regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process] GO:1902961 [positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process] GO:1902963 [negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process]
MEMSAT3 predicted membrane proteins Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding] GO:0005543 [phospholipid binding] GO:0005545 [1-phosphatidylinositol binding] GO:0005622 [intracellular] GO:0005634 [nucleus] GO:0005794 [Golgi apparatus] GO:0005905 [coated pit] GO:0006461 [protein complex assembly] GO:0006898 [receptor-mediated endocytosis] GO:0007409 [axonogenesis] GO:0008283 [cell proliferation] GO:0010629 [negative regulation of gene expression] GO:0016020 [membrane] GO:0016188 [synaptic vesicle maturation] GO:0016192 [vesicle-mediated transport] GO:0016197 [endosomal transport] GO:0030097 [hemopoiesis] GO:0030100 [regulation of endocytosis] GO:0030122 [AP-2 adaptor complex] GO:0030132 [clathrin coat of coated pit] GO:0030276 [clathrin binding] GO:0031623 [receptor internalization] GO:0031982 [vesicle] GO:0032050 [clathrin heavy chain binding] GO:0032880 [regulation of protein localization] GO:0035459 [cargo loading into vesicle] GO:0035615 [clathrin adaptor activity] GO:0042734 [presynaptic membrane] GO:0043025 [neuronal cell body] GO:0043231 [intracellular membrane-bounded organelle] GO:0045211 [postsynaptic membrane] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0048261 [negative regulation of receptor-mediated endocytosis] GO:0048268 [clathrin coat assembly] GO:0048471 [perinuclear region of cytoplasm] GO:0048813 [dendrite morphogenesis] GO:0055072 [iron ion homeostasis] GO:0072583 [clathrin-mediated endocytosis] GO:0097418 [neurofibrillary tangle] GO:0097459 [iron ion import into cell] GO:1901216 [positive regulation of neuron death] GO:1902004 [positive regulation of beta-amyloid formation] GO:1902959 [regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process] GO:1902961 [positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process] GO:1902963 [negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process]
Q13492 [Direct mapping] Phosphatidylinositol-binding clathrin assembly protein
Show all
MEMSAT3 predicted membrane proteins Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding] GO:0005543 [phospholipid binding] GO:0005545 [1-phosphatidylinositol binding] GO:0005634 [nucleus] GO:0005794 [Golgi apparatus] GO:0005905 [coated pit] GO:0006461 [protein complex assembly] GO:0006898 [receptor-mediated endocytosis] GO:0008283 [cell proliferation] GO:0010629 [negative regulation of gene expression] GO:0016020 [membrane] GO:0016188 [synaptic vesicle maturation] GO:0016192 [vesicle-mediated transport] GO:0016197 [endosomal transport] GO:0030100 [regulation of endocytosis] GO:0030122 [AP-2 adaptor complex] GO:0030132 [clathrin coat of coated pit] GO:0030276 [clathrin binding] GO:0031623 [receptor internalization] GO:0031982 [vesicle] GO:0032050 [clathrin heavy chain binding] GO:0032880 [regulation of protein localization] GO:0035459 [cargo loading into vesicle] GO:0035615 [clathrin adaptor activity] GO:0042734 [presynaptic membrane] GO:0043025 [neuronal cell body] GO:0043231 [intracellular membrane-bounded organelle] GO:0045211 [postsynaptic membrane] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0048261 [negative regulation of receptor-mediated endocytosis] GO:0048268 [clathrin coat assembly] GO:0048471 [perinuclear region of cytoplasm] GO:0055072 [iron ion homeostasis] GO:0072583 [clathrin-mediated endocytosis] GO:0097418 [neurofibrillary tangle] GO:0097459 [iron ion import into cell] GO:1901216 [positive regulation of neuron death] GO:1902004 [positive regulation of beta-amyloid formation] GO:1902959 [regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process] GO:1902961 [positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process] GO:1902963 [negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process]
E9PI56 [Direct mapping] Phosphatidylinositol-binding clathrin assembly protein
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Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
E9PKP6 [Direct mapping] Phosphatidylinositol-binding clathrin assembly protein
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Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
H0YEF7 [Direct mapping] Phosphatidylinositol-binding clathrin assembly protein
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Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
H0YEH1 [Direct mapping] Phosphatidylinositol-binding clathrin assembly protein
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Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
H0YD48 [Direct mapping] Phosphatidylinositol-binding clathrin assembly protein
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Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
H0YE97 [Direct mapping] Phosphatidylinositol-binding clathrin assembly protein
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Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
H0YEY8 [Direct mapping] Phosphatidylinositol-binding clathrin assembly protein
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Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
H0YCY1 [Direct mapping] Phosphatidylinositol-binding clathrin assembly protein
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Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
E9PK13 [Direct mapping] Phosphatidylinositol-binding clathrin assembly protein
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Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)