PICALM (phosphatidylinositol binding clathrin assembly protein)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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8301 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Phosphatidylinositol binding clathrin assembly protein |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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PICALM |
SynonymsGene synonyms aliases
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CALM, CLTH, LAP |
ChromosomeChromosome number
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11 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11q14.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000149 |
Function |
SNARE binding |
IBA |
21873635 |
GO:0000149 |
Function |
SNARE binding |
IDA |
22118466 |
GO:0001540 |
Function |
Amyloid-beta binding |
IC |
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GO:0005515 |
Function |
Protein binding |
IPI |
16262731, 16491119, 22118466, 22829078, 23382074 |
GO:0005545 |
Function |
1-phosphatidylinositol binding |
IBA |
21873635 |
GO:0005545 |
Function |
1-phosphatidylinositol binding |
ISS |
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GO:0005546 |
Function |
Phosphatidylinositol-4,5-bisphosphate binding |
IBA |
21873635 |
GO:0005546 |
Function |
Phosphatidylinositol-4,5-bisphosphate binding |
ISS |
25898166 |
GO:0005634 |
Component |
Nucleus |
IDA |
16491119 |
GO:0005769 |
Component |
Early endosome |
IDA |
26005850 |
GO:0005794 |
Component |
Golgi apparatus |
IEA |
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GO:0005829 |
Component |
Cytosol |
TAS |
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GO:0005886 |
Component |
Plasma membrane |
IDA |
16262731 |
GO:0005905 |
Component |
Clathrin-coated pit |
IBA |
21873635 |
GO:0005905 |
Component |
Clathrin-coated pit |
IDA |
10436022 |
GO:0005905 |
Component |
Clathrin-coated pit |
IMP |
25898166 |
GO:0006897 |
Process |
Endocytosis |
IDA |
22118466 |
GO:0006898 |
Process |
Receptor-mediated endocytosis |
IDA |
10436022 |
GO:0006900 |
Process |
Vesicle budding from membrane |
IBA |
21873635 |
GO:0006900 |
Process |
Vesicle budding from membrane |
IMP |
25898166 |
GO:0007409 |
Process |
Axonogenesis |
IEA |
|
GO:0007611 |
Process |
Learning or memory |
ISS |
26005850 |
GO:0008021 |
Component |
Synaptic vesicle |
IBA |
21873635 |
GO:0009986 |
Component |
Cell surface |
IDA |
26005850 |
GO:0010629 |
Process |
Negative regulation of gene expression |
IMP |
22952941 |
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0016185 |
Process |
Synaptic vesicle budding from presynaptic endocytic zone membrane |
IBA |
21873635 |
GO:0016188 |
Process |
Synaptic vesicle maturation |
ISS |
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GO:0016192 |
Process |
Vesicle-mediated transport |
TAS |
8643484 |
GO:0016197 |
Process |
Endosomal transport |
IMP |
16262731 |
GO:0030097 |
Process |
Hemopoiesis |
IEA |
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GO:0030100 |
Process |
Regulation of endocytosis |
IMP |
18182011 |
GO:0030122 |
Component |
AP-2 adaptor complex |
IDA |
16262731 |
GO:0030132 |
Component |
Clathrin coat of coated pit |
IDA |
10436022, 16262731 |
GO:0030136 |
Component |
Clathrin-coated vesicle |
IBA |
21873635 |
GO:0030136 |
Component |
Clathrin-coated vesicle |
IMP |
25898166 |
GO:0030276 |
Function |
Clathrin binding |
IDA |
10436022, 16262731 |
GO:0031224 |
Component |
Intrinsic component of membrane |
ISS |
25898166 |
GO:0031267 |
Function |
Small GTPase binding |
IPI |
26005850 |
GO:0031623 |
Process |
Receptor internalization |
IMP |
14985334, 25898166 |
GO:0031982 |
Component |
Vesicle |
ISS |
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GO:0032050 |
Function |
Clathrin heavy chain binding |
IBA |
21873635 |
GO:0032050 |
Function |
Clathrin heavy chain binding |
IDA |
10436022 |
GO:0032880 |
Process |
Regulation of protein localization |
IDA |
10436022 |
GO:0035459 |
Process |
Vesicle cargo loading |
IMP |
24577224 |
GO:0042734 |
Component |
Presynaptic membrane |
ISS |
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GO:0043025 |
Component |
Neuronal cell body |
IDA |
23589030 |
GO:0043231 |
Component |
Intracellular membrane-bounded organelle |
IDA |
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GO:0043547 |
Process |
Positive regulation of GTPase activity |
IMP |
26005850 |
GO:0045211 |
Component |
Postsynaptic membrane |
ISS |
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GO:0045296 |
Function |
Cadherin binding |
HDA |
25468996 |
GO:0045334 |
Component |
Clathrin-coated endocytic vesicle |
NAS |
25898166 |
GO:0045893 |
Process |
Positive regulation of transcription, DNA-templated |
IDA |
11425879 |
GO:0048156 |
Function |
Tau protein binding |
IPI |
23589030 |
GO:0048261 |
Process |
Negative regulation of receptor-mediated endocytosis |
IDA |
10436022 |
GO:0048268 |
Process |
Clathrin coat assembly |
IMP |
16262731 |
GO:0048471 |
Component |
Perinuclear region of cytoplasm |
ISS |
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GO:0048813 |
Process |
Dendrite morphogenesis |
IEA |
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GO:0050750 |
Function |
Low-density lipoprotein particle receptor binding |
IPI |
26005850 |
GO:0055072 |
Process |
Iron ion homeostasis |
IMP |
22952941 |
GO:0061024 |
Process |
Membrane organization |
TAS |
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GO:0065003 |
Process |
Protein-containing complex assembly |
TAS |
8643484 |
GO:0070381 |
Component |
Endosome to plasma membrane transport vesicle |
IDA |
26005850 |
GO:0072583 |
Process |
Clathrin-dependent endocytosis |
IBA |
21873635 |
GO:0072583 |
Process |
Clathrin-dependent endocytosis |
IMP |
22952941, 24577224, 26005850 |
GO:0090647 |
Process |
Modulation of age-related behavioral decline |
ISS |
26005850 |
GO:0097418 |
Component |
Neurofibrillary tangle |
IMP |
23589030 |
GO:0097494 |
Process |
Regulation of vesicle size |
IMP |
25898166 |
GO:0097753 |
Process |
Membrane bending |
IMP |
25898166 |
GO:0098894 |
Component |
Extrinsic component of presynaptic endocytic zone membrane |
IBA |
21873635 |
GO:0150093 |
Process |
Amyloid-beta clearance by transcytosis |
IGI |
26005850 |
GO:0150093 |
Process |
Amyloid-beta clearance by transcytosis |
ISS |
26005850 |
GO:1901216 |
Process |
Positive regulation of neuron death |
IMP |
23589030 |
GO:1902003 |
Process |
Regulation of amyloid-beta formation |
ISS |
26005850 |
GO:1902004 |
Process |
Positive regulation of amyloid-beta formation |
IMP |
24577224 |
GO:1902959 |
Process |
Regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process |
IMP |
24577224 |
GO:1902961 |
Process |
Positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process |
ISS |
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GO:1902963 |
Process |
Negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process |
ISS |
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GO:1903077 |
Process |
Negative regulation of protein localization to plasma membrane |
IMP |
21221849 |
GO:1905224 |
Process |
Clathrin-coated pit assembly |
IDA |
16262731 |
GO:2000009 |
Process |
Negative regulation of protein localization to cell surface |
IMP |
21221849 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q13492 |
Protein name |
Phosphatidylinositol-binding clathrin assembly protein (Clathrin assembly lymphoid myeloid leukemia protein) |
Protein function |
Cytoplasmic adapter protein that plays a critical role in clathrin-mediated endocytosis which is important in processes such as internalization of cell receptors, synaptic transmission or removal of apoptotic cells. Recruits AP-2 and attaches cl |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF07651 |
ANTH |
21 → 284 |
ANTH domain |
Domain |
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Sequence |
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Sequence length |
652 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Alzheimer disease |
Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset |
rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 |
19734902, 21460841, 21460841, 19734902, 25778476, 22832961, 30617256, 29777097, 21460841, 19734902 |
Leukemia |
Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2) |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 |
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Lymphoblastic leukemia |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma, Precursor T-cell acute lymphoblastic leukemia |
rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Cognitive disorder |
Mild cognitive disorder |
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30503753 |
Impaired cognition |
Impaired cognition |
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30503753 |
Myeloid leukemia |
Acute Myeloid Leukemia, M1 |
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Senile dementia |
Presenile dementia, Acute Confusional Senile Dementia |
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19734902, 21460841 |
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