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PICALM (phosphatidylinositol binding clathrin assembly protein)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8301
Gene nameGene Name - the full gene name approved by the HGNC.
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.
PICALM
SynonymsGene synonyms aliases
CALM, CLTH, LAP
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q14.2
SummarySummary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT001525 hsa-miR-155-5p pSILAC 18668040
MIRT001350 hsa-miR-1-3p pSILAC 18668040
MIRT001525 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT001525 hsa-miR-155-5p Proteomics 18668040
MIRT023209 hsa-miR-124-3p Proteomics;Microarray 18668037
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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
GO:0005515 Function Protein binding IPI 16262731, 16491119, 22118466, 22829078, 23382074
GO:0005545 Function 1-phosphatidylinositol binding IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
MSGQSLTDRITAAQHSVTGSAVSKTVCKATTHEIMGPKKKHLDYLIQCTNEMNVNIPQLA
DSLFERTTNSSWVVVFKSLITTHHLMVYGNERFIQYLASRNTLFNLSNFLDKSGLQGYDM
STFIRRYSRYLNEKAVSYRQVAFDFTKVKRGADGVMRTMNTEKLLKTVPIIQNQMDALLD
FNVNSNELTNGVINAAFMLLFKDAIRLFAAYNEGIINLLEKYFDMKKNQCKEGLDIYKKF
LTRMTRISEFLKVAEQVGIDRGDIPDLSQAPSSLLDALEQHLAS
LEGKKIKDSTAASRAT
TLSNAVSSLASTGLSLTKVDEREKQAALEEEQARLKALKEQRLKELAKKPHTSLTTAASP
VSTSAGGIMTAPAIDIFSTPSSSNSTSKLPNDLLDLQQPTFHPSVHPMSTASQVASTWGD
PFSATVDAVDDAIPSLNPFLTKSSGDVHLSISSDVSTFTTRTPTHEMFVGFTPSPVAQPH
PSAGLNVDFESVFGNKSTNVIVDSGGFDELGGLLKPTVASQNQNLPVAKLPPSKLVSDDL
DSSLANLVGNLGIGNGTTKNDVNWSQPGEKKLTGGSNWQPKVAPTTAWNAATMAPPVMAY
PATTPTGMIGYGIPPQMGSVPVMTQPTLIYSQPVMRPPNPFGPVSGAQIQFM
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.
 
Reactome
    Golgi Associated Vesicle Biogenesis
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases
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
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
Unknown
Disease name Disease term dbSNP ID References
Cognitive disorder Mild cognitive disorder 30503753
Impaired cognition Impaired cognition 30503753
Myeloid leukemia Acute Myeloid Leukemia, M1
Senile dementia Presenile dementia, Acute Confusional Senile Dementia 19734902, 21460841

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