Gene Gene information from NCBI Gene database.
Entrez ID 8301
Gene name Phosphatidylinositol binding clathrin assembly protein
Gene symbol PICALM
Synonyms (NCBI Gene)
CALMCLTHLAP
Chromosome 11
Chromosome location 11q14.2
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
miRNA miRNA information provided by mirtarbase database.
333
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
97
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IBA
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, 26496610, 32296183, 35044719
GO:0005543 Function Phospholipid binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603025 15514 ENSG00000073921
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues examined. {ECO:0000269|PubMed:8643484}.
Sequence
MSGQSLTDRITAAQHSVTGSAVSKTVCKATTHEIMGPKKKHLDYLIQCTNEMNVNIPQLA
DSLFERTTNSSWVVVFKSLITTHHLMVYGNERFIQYLASRNTLFNLSNFLDKSGLQGYDM
STFIRRYSRYLNEKAVSYRQVAFDFTKVKRGADGVMRTMNTEKLLKTVPIIQNQMDALLD
FNVNSNELTNGVINAAFMLLFKDAIRLFAAYNEGIINLLEKYFDMKKNQCKEGLDIYKKF
LTRMTRISEFLKVAEQVGIDRGDIPDLSQAPSSLLDALEQHLAS
LEGKKIKDSTAASRAT
TLSNAVSSLASTGLSLTKVDEREKQAALEEEQARLKALKEQRLKELAKKPHTSLTTAASP
VSTSAGGIMTAPAIDIFSTPSSSNSTSKLPNDLLDLQQPTFHPSVHPMSTASQVASTWGD
PFSATVDAVDDAIPSLNPFLTKSSGDVHLSISSDVSTFTTRTPTHEMFVGFTPSPVAQPH
PSAGLNVDFESVFGNKSTNVIVDSGGFDELGGLLKPTVASQNQNLPVAKLPPSKLVSDDL
DSSLANLVGNLGIGNGTTKNDVNWSQPGEKKLTGGSNWQPKVAPTTAWNAATMAPPVMAY
PATTPTGMIGYGIPPQMGSVPVMTQPTLIYSQPVMRPPNPFGPVSGAQIQFM
Sequence length 652
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Golgi Associated Vesicle Biogenesis
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
15
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs17745105, rs527390423 RCV005918243
RCV005910352
Hepatocellular carcinoma Benign rs10792821 RCV005898366
Malignant lymphoma, large B-cell, diffuse Benign rs10792821 RCV005898367
Malignant tumor of esophagus Benign rs17745105 RCV005918242
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 24498085
Alzheimer Disease Associate 19734902, 20209083, 20534741, 20554627, 20697030, 20739100, 20838239, 21059989, 21220176, 21379329, 21912625, 22015308, 22445811, 22482808, 22508715
View all (47 more)
Amyotrophic Lateral Sclerosis Associate 33953791
Arrhythmias Cardiac Associate 30348784, 37528649
Atrophy Associate 24670887, 27117083
Cardiomyopathies Associate 37528649
Cerebral Infarction Associate 40442227
Cognition Disorders Associate 22952074, 26889634, 27117083, 30472946
Cognitive Dysfunction Associate 25189118
Dementia Associate 21297263, 30830563, 36191742, 36982820