PICALM - Gene info - The Human Protein Atlas

PICALM

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TISSUE

SUBCELL

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CELL LINE

CANCER

GENE INFORMATION

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Gene name	PICALM (HGNC Symbol)
Synonyms	CALM, CLTH
Description	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]
Chromosome	11
Cytoband	q14.2
Chromosome location (bp)	85957684 - 86069882
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000073921 (version 78.38)
Entrez gene	8301
UniProt	Q13492 (UniProt - Evidence at protein level)
neXtProt	NX_Q13492
Antibodypedia	PICALM antibodies

PROTEIN VIEW

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PICALM-001		PICALM-002		PICALM-003		PICALM-005		PICALM-006		PICALM-007		PICALM-008		PICALM-010		PICALM-017		PICALM-018		PICALM-019		PICALM-020		PICALM-021		PICALM-023

PROTEIN INFORMATION

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Splice variant	Ensembl	UniProt	Protein class	Gene ontology	Length (aa)	Molecular mass (kDa)	Signal peptide (predicted)	Transmembrane regions (predicted)
PICALM-001	ENSP00000433846 ENST00000526033	Q13492 Show all » « Hide Q13492 [Direct mapping] Phosphatidylinositol-binding clathrin assembly protein E9PLJ8 [Target identity:28%; Query identity:100%] Phosphatidylinositol-binding clathrin assembly protein {ECO:0000313\|Ensembl:ENSP00000433303} E9PI56 [Target identity:22%; Query identity:100%] Phosphatidylinositol-binding clathrin assembly protein {ECO:0000313\|Ensembl:ENSP00000436508} E9PKP6 [Target identity:22%; Query identity:100%] Phosphatidylinositol-binding clathrin assembly protein {ECO:0000313\|Ensembl:ENSP00000431545}	Show » « Hide 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 » « Hide 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:0030118 [clathrin coat] 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]	645	70	No	0
PICALM-002	ENSP00000436958 ENST00000532317	Q13492 Show all » « Hide Q13492 [Direct mapping] Phosphatidylinositol-binding clathrin assembly protein A0A024R5L7 [Target identity:100%; Query identity:100%] Phosphatidylinositol binding clathrin assembly protein, isoform CRA_c {ECO:0000313\|EMBL:EAW75122.1} E9PLJ8 [Target identity:30%; Query identity:100%] Phosphatidylinositol-binding clathrin assembly protein {ECO:0000313\|Ensembl:ENSP00000433303} E9PI56 [Target identity:24%; Query identity:100%] Phosphatidylinositol-binding clathrin assembly protein {ECO:0000313\|Ensembl:ENSP00000436508} E9PKP6 [Target identity:24%; Query identity:100%] Phosphatidylinositol-binding clathrin assembly protein {ECO:0000313\|Ensembl:ENSP00000431545}	Show » « Hide 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 » « Hide 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:0030118 [clathrin coat] 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]	610	66.4	No	0
PICALM-003	ENSP00000434884 ENST00000528398	Q13492 Show all » « Hide Q13492 [Direct mapping] Phosphatidylinositol-binding clathrin assembly protein E9PI56 [Target identity:26%; Query identity:100%] Phosphatidylinositol-binding clathrin assembly protein {ECO:0000313\|Ensembl:ENSP00000436508}	Show » « Hide 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 » « Hide 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:0030118 [clathrin coat] 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]	551	59.9	No	0
PICALM-005	ENSP00000377015 ENST00000393346	Q13492 Show all » « Hide Q13492 [Direct mapping] Phosphatidylinositol-binding clathrin assembly protein A0A024R5P1 [Target identity:100%; Query identity:100%] Phosphatidylinositol binding clathrin assembly protein, isoform CRA_i {ECO:0000313\|EMBL:EAW75128.1} E9PLJ8 [Target identity:28%; Query identity:100%] Phosphatidylinositol-binding clathrin assembly protein {ECO:0000313\|Ensembl:ENSP00000433303} E9PI56 [Target identity:22%; Query identity:100%] Phosphatidylinositol-binding clathrin assembly protein {ECO:0000313\|Ensembl:ENSP00000436508} E9PKP6 [Target identity:22%; Query identity:100%] Phosphatidylinositol-binding clathrin assembly protein {ECO:0000313\|Ensembl:ENSP00000431545}	Show » « Hide 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 » « Hide 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:0030118 [clathrin coat] 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]	652	70.8	No	0
PICALM-006	ENSP00000348718 ENST00000356360	Q13492 Show all » « Hide Q13492 [Direct mapping] Phosphatidylinositol-binding clathrin assembly protein E9PLJ8 [Target identity:29%; Query identity:100%] Phosphatidylinositol-binding clathrin assembly protein {ECO:0000313\|Ensembl:ENSP00000433303} E9PI56 [Target identity:23%; Query identity:100%] Phosphatidylinositol-binding clathrin assembly protein {ECO:0000313\|Ensembl:ENSP00000436508} E9PKP6 [Target identity:23%; Query identity:100%] Phosphatidylinositol-binding clathrin assembly protein {ECO:0000313\|Ensembl:ENSP00000431545}	Show » « Hide 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 » « Hide 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:0030118 [clathrin coat] 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]	632	68.8	No	0
PICALM-007	ENSP00000433303 ENST00000531930	E9PLJ8 Show all » « Hide E9PLJ8 [Target identity:100%; Query identity:100%] Phosphatidylinositol-binding clathrin assembly protein {ECO:0000313\|Ensembl:ENSP00000433303} E9PKP6 [Target identity:80%; Query identity:100%] Phosphatidylinositol-binding clathrin assembly protein {ECO:0000313\|Ensembl:ENSP00000431545} E9PI56 [Target identity:79%; Query identity:100%] Phosphatidylinositol-binding clathrin assembly protein {ECO:0000313\|Ensembl:ENSP00000436508}	Show » « Hide MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0005543 [phospholipid binding] GO:0005545 [1-phosphatidylinositol binding] GO:0030118 [clathrin coat] GO:0030276 [clathrin binding] GO:0048268 [clathrin coat assembly]	185	21.3	No	0
PICALM-008	ENSP00000436508 ENST00000525162	E9PI56 Show all » « Hide E9PI56 [Target identity:99%; Query identity:100%] Phosphatidylinositol-binding clathrin assembly protein {ECO:0000313\|Ensembl:ENSP00000436508}	Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0005543 [phospholipid binding] GO:0005545 [1-phosphatidylinositol binding] GO:0030118 [clathrin coat] GO:0030276 [clathrin binding] GO:0048268 [clathrin coat assembly]	148	17	No	0
PICALM-010	ENSP00000431545 ENST00000528256	E9PKP6 Show all » « Hide E9PKP6 [Target identity:100%; Query identity:100%] Phosphatidylinositol-binding clathrin assembly protein {ECO:0000313\|Ensembl:ENSP00000431545}	Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0005543 [phospholipid binding]	148	17.3	No	0
PICALM-017	ENSP00000435737 ENST00000530542		Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		302	31.4	No	0
PICALM-018	ENSP00000435807 ENST00000529760	B4DLM1 Show all » « Hide B4DLM1 [Target identity:76%; Query identity:100%] cDNA FLJ52661, highly similar to Homo sapiens phosphatidylinositol binding clathrin assembly protein, transcript variant 2, mRNA {ECO:0000313\|EMBL:BAG59583.1}	Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		308	32.1	No	0
PICALM-019	ENSP00000432976 ENST00000526961		Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		264	27.7	No	0
PICALM-020	ENSP00000435311 ENST00000532603		Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		134	13.9	No	0
PICALM-021	ENSP00000436852 ENST00000530692		Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		215	22.3	No	0
PICALM-023	ENSP00000432509 ENST00000529016		Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		244	25.4	No	0

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.