Version 5.4
Homo sapiens Gene: PICALM
Summary
InnateDB Gene IDBG-66712.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PICALM
Gene Name phosphatidylinositol binding clathrin assembly protein
Synonyms CALM; CLTH; LAP
Species Homo sapiens
Ensembl Gene ENSG00000073921
Encoded Proteins
IDBP-66716
phosphatidylinositol binding clathrin assembly protein
IDBP-243797
phosphatidylinositol binding clathrin assembly protein
IDBP-591044
phosphatidylinositol binding clathrin assembly protein
IDBP-589461
phosphatidylinositol binding clathrin assembly protein
IDBP-590245
phosphatidylinositol binding clathrin assembly protein
IDBP-583681
phosphatidylinositol binding clathrin assembly protein
IDBP-595983
phosphatidylinositol binding clathrin assembly protein
IDBP-591153
phosphatidylinositol binding clathrin assembly protein
IDBP-593546
phosphatidylinositol binding clathrin assembly protein
IDBP-594174
phosphatidylinositol binding clathrin assembly protein
IDBP-593111
phosphatidylinositol binding clathrin assembly protein
IDBP-588142
phosphatidylinositol binding clathrin assembly protein
IDBP-601070
phosphatidylinositol binding clathrin assembly protein
IDBP-588800
phosphatidylinositol binding clathrin assembly protein
IDBP-600984
phosphatidylinositol binding clathrin assembly protein
IDBP-594986
phosphatidylinositol binding clathrin assembly protein
IDBP-594737
phosphatidylinositol binding clathrin assembly protein
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:85957684-86069882
Strand Reverse strand
Band q14.2
Transcripts
ENST00000356360 ENSP00000348718
ENST00000393346 ENSP00000377015
ENST00000532317 ENSP00000436958
ENST00000526033 ENSP00000433846
ENST00000530692 ENSP00000436852
ENST00000526548
ENST00000529760 ENSP00000435807
ENST00000528398 ENSP00000434884
ENST00000532603 ENSP00000435311
ENST00000529016 ENSP00000432509
ENST00000526961 ENSP00000432976
ENST00000526907
ENST00000530542 ENSP00000435737
ENST00000534375
ENST00000534412 ENSP00000435499
ENST00000533350
ENST00000531771
ENST00000531558 ENSP00000433166
ENST00000531930 ENSP00000433303
ENST00000532041 ENSP00000431728
ENST00000525162 ENSP00000436508
ENST00000528256 ENSP00000431545
ENST00000528411
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
Experimentally validated
Total 30 [view]
Protein-Protein 30 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0005545 1-phosphatidylinositol binding
GO:0030276 clathrin binding
GO:0032050 clathrin heavy chain binding
GO:0035615 clathrin adaptor activity
Biological Process
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:0016188 synaptic vesicle maturation
GO:0016192 vesicle-mediated transport
GO:0016197 endosomal transport
GO:0030097 hemopoiesis
GO:0030100 regulation of endocytosis
GO:0031623 receptor internalization
GO:0032880 regulation of protein localization
GO:0035459 cargo loading into vesicle
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048261 negative regulation of receptor-mediated endocytosis
GO:0048268 clathrin coat assembly
GO:0048813 dendrite morphogenesis
GO:0055072 iron ion homeostasis
GO:0072583 clathrin-mediated endocytosis
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
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005794 Golgi apparatus
GO:0005905 coated pit
GO:0016020 membrane
GO:0030118 clathrin coat
GO:0030122 AP-2 adaptor complex
GO:0030132 clathrin coat of coated pit
GO:0031982 vesicle
GO:0042734 presynaptic membrane
GO:0043025 neuronal cell body
GO:0043231 intracellular membrane-bounded organelle
GO:0045211 postsynaptic membrane
GO:0048471 perinuclear region of cytoplasm
GO:0097418 neurofibrillary tangle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000039361
View Gene Order
ENSBTAG00000001657
Not yet available
Pathways
NETPATH
REACTOME
REACT_19400
Golgi Associated Vesicle Biogenesis pathway
REACT_19187
Clathrin derived vesicle budding pathway
REACT_11235
trans-Golgi Network Vesicle Budding pathway
REACT_11123
Membrane Trafficking pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 8301
UniGene Hs.163893
RefSeq NM_001008660 NM_001206946 NM_001206947 NM_007166 XM_005274329 XM_005274336
HUGO HGNC:15514
OMIM 603025
CCDS CCDS31653 CCDS55783 CCDS55784 CCDS8272
HPRD 04320
IMGT
EMBL
GenPept
RNA Seq Atlas 8301

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca