Gene/Proteome Database (LMPD)

LMPD ID
LMP001447
Gene ID
8301
Species
Homo sapiens (Human)
Gene Name
phosphatidylinositol binding clathrin assembly protein
Gene Symbol
PICALM
Synonyms
CALM; CLTH; LAP
Alternate Names
phosphatidylinositol-binding clathrin assembly protein; clathrin assembly lymphoid myeloid leukemia protein
Chromosome
11
Map Location
11q14
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]
Orthologs
View orthologs and multiple alignments for PICALM

Proteins

phosphatidylinositol-binding clathrin assembly protein isoform 1
Refseq ID NP_009097
Protein GI 56788366
UniProt ID Q13492
mRNA ID NM_007166
Length 652
RefSeq Status REVIEWED
MSGQSLTDRITAAQHSVTGSAVSKTVCKATTHEIMGPKKKHLDYLIQCTNEMNVNIPQLADSLFERTTNSSWVVVFKSLITTHHLMVYGNERFIQYLASRNTLFNLSNFLDKSGLQGYDMSTFIRRYSRYLNEKAVSYRQVAFDFTKVKRGADGVMRTMNTEKLLKTVPIIQNQMDALLDFNVNSNELTNGVINAAFMLLFKDAIRLFAAYNEGIINLLEKYFDMKKNQCKEGLDIYKKFLTRMTRISEFLKVAEQVGIDRGDIPDLSQAPSSLLDALEQHLASLEGKKIKDSTAASRATTLSNAVSSLASTGLSLTKVDEREKQAALEEEQARLKALKEQRLKELAKKPHTSLTTAASPVSTSAGGIMTAPAIDIFSTPSSSNSTSKLPNDLLDLQQPTFHPSVHPMSTASQVASTWGDPFSATVDAVDDAIPSLNPFLTKSSGDVHLSISSDVSTFTTRTPTHEMFVGFTPSPVAQPHPSAGLNVDFESVFGNKSTNVIVDSGGFDELGGLLKPTVASQNQNLPVAKLPPSKLVSDDLDSSLANLVGNLGIGNGTTKNDVNWSQPGEKKLTGGSNWQPKVAPTTAWNAATMAPPVMAYPATTPTGMIGYGIPPQMGSVPVMTQPTLIYSQPVMRPPNPFGPVSGAQIQFM
phosphatidylinositol-binding clathrin assembly protein isoform 2
Refseq ID NP_001008660
Protein GI 56788368
UniProt ID Q13492
mRNA ID NM_001008660
Length 610
RefSeq Status REVIEWED
MSGQSLTDRITAAQHSVTGSAVSKTVCKATTHEIMGPKKKHLDYLIQCTNEMNVNIPQLADSLFERTTNSSWVVVFKSLITTHHLMVYGNERFIQYLASRNTLFNLSNFLDKSGLQGYDMSTFIRRYSRYLNEKAVSYRQVAFDFTKVKRGADGVMRTMNTEKLLKTVPIIQNQMDALLDFNVNSNELTNGVINAAFMLLFKDAIRLFAAYNEGIINLLEKYFDMKKNQCKEGLDIYKKFLTRMTRISEFLKVAEQVGIDRGDIPDLSQAPSSLLDALEQHLASLEGKKIKDSTAASRATTLSNAVSSLASTGLSLTKVDEREKQAALEEEQARLKALKEQRLKELAKKPHTSLTTAASPVSTSAGGIMTAPAIDIFSTPSSSNSTSKLPNDLLDLQQPTFHPSVHPMSTASQVASTWGGFTPSPVAQPHPSAGLNVDFESVFGNKSTNVIVDSGGFDELGGLLKPTVASQNQNLPVAKLPPSKLVSDDLDSSLANLVGNLGIGNGTTKNDVNWSQPGEKKLTGGSNWQPKVAPTTAWNAATMNGMHFPQYAPPVMAYPATTPTGMIGYGIPPQMGSVPVMTQPTLIYSQPVMRPPNPFGPVSGAQIQFM
phosphatidylinositol-binding clathrin assembly protein isoform 3
Refseq ID NP_001193875
Protein GI 332688231
UniProt ID Q13492
mRNA ID NM_001206946
Length 645
RefSeq Status REVIEWED
MSGQSLTDRITAAQHSVTGSAVSKTVCKATTHEIMGPKKKHLDYLIQCTNEMNVNIPQLADSLFERTTNSSWVVVFKSLITTHHLMVYGNERFIQYLASRNTLFNLSNFLDKSGLQGYDMSTFIRRYSRYLNEKAVSYRQVAFDFTKVKRGADGVMRTMNTEKLLKTVPIIQNQMDALLDFNVNSNELTNGVINAAFMLLFKDAIRLFAAYNEGIINLLEKYFDMKKNQCKEGLDIYKKFLTRMTRISEFLKVAEQVGIDRGDIPDLSQAPSSLLDALEQHLASLEGKKIKDSTAASRATTLSNAVSSLASTGLSLTKVDEREKQAALEEEQARLKALKEQRLKELAKKPHTSLTTAASPVSTSAGGIMTAPAIDIFSTPSSSNSTSKLPNDLLDLQQPTFHPSVHPMSTASQVASTWGDAVDDAIPSLNPFLTKSSGDVHLSISSDVSTFTTRTPTHEMFVGFTPSPVAQPHPSAGLNVDFESVFGNKSTNVIVDSGGFDELGGLLKPTVASQNQNLPVAKLPPSKLVSDDLDSSLANLVGNLGIGNGTTKNDVNWSQPGEKKLTGGSNWQPKVAPTTAWNAATMAPPVMAYPATTPTGMIGYGIPPQMGSVPVMTQPTLIYSQPVMRPPNPFGPVSGAQIQFM
phosphatidylinositol-binding clathrin assembly protein isoform 4
Refseq ID NP_001193876
Protein GI 332688231
UniProt ID Q13492
mRNA ID NM_001206947
Length 645
RefSeq Status REVIEWED
MSGQSLTDRITAAQHSVTGSAVSKTVCKATTHEIMGPKKKHLDYLIQCTNEMNVNIPQLADSLFERTTNSSWVVVFKSLITTHHLMVYGNERFIQYLASRNTLFNLSNFLDKSGLQGYDMSTFIRRYSRYLNEKAVSYRQVAFDFTKVKRGADGVMRTMNTEKLLKTVPIIQNQMDALLDFNVNSNELTNGVINAAFMLLFKDAIRLFAAYNEGIINLLEKYFDMKKNQCKEGLDIYKKFLTRMTRISEFLKVAEQVGIDRGDIPDLSQAPSSLLDALEQHLASLEGKKIKDSTAASRATTLSNAVSSLASTGLSLTKVDEREKQAALEEEQARLKALKEQRLKELAKKPHTSLTTAASPVSTSAGGIMTAPAIDIFSTPSSSNSTSKLPNDLLDLQQPTFHPSVHPMSTASQVASTWGDAVDDAIPSLNPFLTKSSGDVHLSISSDVSTFTTRTPTHEMFVGFTPSPVAQPHPSAGLNVDFESVFGNKSTNVIVDSGGFDELGGLLKPTVASQNQNLPVAKLPPSKLVSDDLDSSLANLVGNLGIGNGTTKNDVNWSQPGEKKLTGGSNWQPKVAPTTAWNAATMAPPVMAYPATTPTGMIGYGIPPQMGSVPVMTQPTLIYSQPVMRPPNPFGPVSGAQIQFM

Gene Information

Entrez Gene ID
8301
Gene Name
phosphatidylinositol binding clathrin assembly protein
Gene Symbol
PICALM
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005794 IEA:UniProtKB-KW C Golgi apparatus
GO:0030118 IEA:InterPro C clathrin coat
GO:0005905 IDA:UniProtKB C coated pit
GO:0031410 IEA:UniProtKB-KW C cytoplasmic vesicle
GO:0043231 IDA:HPA C intracellular membrane-bounded organelle
GO:0016020 IDA:UniProtKB C membrane
GO:0097418 IMP:Alzheimers_University_of_Toronto C neurofibrillary tangle
GO:0043025 IDA:Alzheimers_University_of_Toronto C neuronal cell body
GO:0005634 IDA:BHF-UCL C nucleus
GO:0048471 IEA:Ensembl C perinuclear region of cytoplasm
GO:0045211 ISS:BHF-UCL C postsynaptic membrane
GO:0042734 ISS:BHF-UCL C presynaptic membrane
GO:0031982 ISS:Alzheimers_University_of_Toronto C vesicle
GO:0005545 ISS:UniProtKB F 1-phosphatidylinositol binding
GO:0035615 IMP:Alzheimers_University_of_Toronto F clathrin adaptor activity
GO:0030276 IDA:UniProtKB F clathrin binding
GO:0032050 IDA:BHF-UCL F clathrin heavy chain binding
GO:0007409 IEA:Ensembl P axonogenesis
GO:0035459 IMP:Alzheimers_University_of_Toronto P cargo loading into vesicle
GO:0008283 IMP:Alzheimers_University_of_Toronto P cell proliferation
GO:0048268 IMP:BHF-UCL P clathrin coat assembly
GO:0072583 IMP:Alzheimers_University_of_Toronto P clathrin-mediated endocytosis
GO:0048813 IEA:Ensembl P dendrite morphogenesis
GO:0016197 IMP:BHF-UCL P endosomal transport
GO:0030097 IEA:Ensembl P hemopoiesis
GO:0055072 IMP:Alzheimers_University_of_Toronto P iron ion homeostasis
GO:0097459 IMP:Alzheimers_University_of_Toronto P iron ion import into cell
GO:0010629 IMP:Alzheimers_University_of_Toronto P negative regulation of gene expression
GO:1902963 ISS:Alzheimers_University_of_Toronto P negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process
GO:0048261 IDA:BHF-UCL P negative regulation of receptor-mediated endocytosis
GO:1902961 ISS:Alzheimers_University_of_Toronto P positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process
GO:1902004 IMP:Alzheimers_University_of_Toronto P positive regulation of beta-amyloid formation
GO:1901216 IMP:Alzheimers_University_of_Toronto P positive regulation of neuron death
GO:0045893 IDA:BHF-UCL P positive regulation of transcription, DNA-templated
GO:0006461 TAS:ProtInc P protein complex assembly
GO:0031623 IMP:BHF-UCL P receptor internalization
GO:0006898 IDA:UniProtKB P receptor-mediated endocytosis
GO:1902959 IMP:Alzheimers_University_of_Toronto P regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process
GO:0030100 IMP:BHF-UCL P regulation of endocytosis
GO:0032880 IDA:BHF-UCL P regulation of protein localization
GO:0016188 ISS:Alzheimers_University_of_Toronto P synaptic vesicle maturation
GO:0016192 TAS:ProtInc P vesicle-mediated transport

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_19187 Clathrin derived vesicle budding
REACT_19400 Golgi Associated Vesicle Biogenesis
REACT_11123 Membrane Trafficking
REACT_11235 trans-Golgi Network Vesicle Budding

Domain Information

InterPro Annotations

Accession Description
IPR011417 AP180 N-terminal homology (ANTH) domain
IPR008942 ENTH_VHS
IPR013809 Epsin-like_N
IPR014712 Phosphoinositide-binding clathrin adaptor, domain 2

UniProt Annotations

Entry Information

Gene Name
phosphatidylinositol binding clathrin assembly protein
Protein Entry
PICAL_HUMAN
UniProt ID
Q13492
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=Type I; IsoId=Q13492-1; Sequence=Displayed; Name=2; Synonyms=Type II; IsoId=Q13492-2; Sequence=VSP_004067; Name=3; IsoId=Q13492-3; Sequence=VSP_009607, VSP_009608; Note=No experimental confirmation available.; Name=4; IsoId=Q13492-4; Sequence=VSP_044567, VSP_009607; Note=No experimental confirmation available.; Name=5; IsoId=Q13492-5; Sequence=VSP_044568; Note=No experimental confirmation available.;
Disease Note=A chromosomal aberration involving PICALM is found in diffuse histiocytic lymphomas. Translocation t(10;11)(p13;q14) with MLLT10.
Function Assembly protein recruiting clathrin and adapter protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. May be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. Involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction.
Sequence Caution Sequence=BAE06099.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence= ;
Similarity Belongs to the PICALM/SNAP91 family.
Similarity Contains 1 ENTH (epsin N-terminal homology) domain.
Subcellular Location Membrane, clathrin-coated pit. Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle. Nucleus. Note=Colocalized with clathrin in the Golgi area. Interaction with FAM64A may target PICALM to the nucleus in some cells.
Subunit Binds clathrin; involves primarily the C-terminal sequences, but the full-length protein is required for full binding capacity. Binds phosphatidylinositol 4,5- bisphosphate. Interacts with FAM64A; this interaction may change the subcellular location into the nucleus. {ECO
Tissue Specificity Expressed in all tissues examined.
Web Resource Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CALM.html";

Identical and Related Proteins

Unique RefSeq proteins for LMP001447 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
56788366 RefSeq NP_009097 652 phosphatidylinositol-binding clathrin assembly protein isoform 1
56788368 RefSeq NP_001008660 610 phosphatidylinositol-binding clathrin assembly protein isoform 2
332688231 RefSeq NP_001193875 645 phosphatidylinositol-binding clathrin assembly protein isoform 3
332688231 RefSeq NP_001193876 645 phosphatidylinositol-binding clathrin assembly protein isoform 4

Identical Sequences to LMP001447 proteins

Reference Database Accession Length Protein Name
GI:332688231 DBBJ BAG10229.1 645 phosphatidylinositol binding clathrin assembly protein, partial [synthetic construct]
GI:332688231 DBBJ BAG10229.1 645 phosphatidylinositol binding clathrin assembly protein, partial [synthetic construct]
GI:56788368 GenBank AAH64357.1 610 Phosphatidylinositol binding clathrin assembly protein [Homo sapiens]
GI:56788368 GenBank AAH73961.1 610 Phosphatidylinositol binding clathrin assembly protein [Homo sapiens]
GI:56788366 GenBank AAH48259.2 652 Phosphatidylinositol binding clathrin assembly protein [Homo sapiens]
GI:56788368 GenBank EAW75120.1 610 phosphatidylinositol binding clathrin assembly protein, isoform CRA_c [Homo sapiens]
GI:56788368 GenBank EAW75122.1 610 phosphatidylinositol binding clathrin assembly protein, isoform CRA_c [Homo sapiens]
GI:56788366 GenBank EAW75127.1 652 phosphatidylinositol binding clathrin assembly protein, isoform CRA_i [Homo sapiens]
GI:56788366 GenBank EAW75128.1 652 phosphatidylinositol binding clathrin assembly protein, isoform CRA_i [Homo sapiens]
GI:56788368 GenBank AHD77301.1 610 Sequence 22434 from patent US 8586006
GI:56788366 GenBank AHD77302.1 652 Sequence 22435 from patent US 8586006
GI:56788368 GenBank AIC50075.1 610 PICALM, partial [synthetic construct]
GI:56788366 SwissProt Q13492.2 652 RecName: Full=Phosphatidylinositol-binding clathrin assembly protein; AltName: Full=Clathrin assembly lymphoid myeloid leukemia protein [Homo sapiens]

Related Sequences to LMP001447 proteins

Reference Database Accession Length Protein Name
GI:332688231 DBBJ BAE06099.1 721 PICALM variant protein, partial [Homo sapiens]
GI:332688231 DBBJ BAE06099.1 721 PICALM variant protein, partial [Homo sapiens]
GI:56788366 DBBJ BAF84103.1 652 unnamed protein product [Homo sapiens]
GI:56788368 DBBJ BAG70122.1 610 phosphatidylinositol-binding clathrin assembly protein isoform 2 [Homo sapiens]
GI:56788368 GenBank JAA10866.1 610 phosphatidylinositol binding clathrin assembly protein [Pan troglodytes]
GI:56788368 GenBank JAA41477.1 610 phosphatidylinositol binding clathrin assembly protein [Pan troglodytes]
GI:56788366 GenBank JAA41481.1 652 phosphatidylinositol binding clathrin assembly protein [Pan troglodytes]
GI:56788368 RefSeq XP_003313286.1 610 PREDICTED: phosphatidylinositol-binding clathrin assembly protein isoform X22 [Pan troglodytes]
GI:56788366 RefSeq XP_508908.3 652 PREDICTED: phosphatidylinositol-binding clathrin assembly protein isoform X13 [Pan troglodytes]
GI:56788368 RefSeq XP_003833019.1 610 PREDICTED: phosphatidylinositol-binding clathrin assembly protein isoform X21 [Pan paniscus]
GI:56788366 RefSeq XP_003833020.1 652 PREDICTED: phosphatidylinositol-binding clathrin assembly protein isoform X12 [Pan paniscus]
GI:332688231 RefSeq XP_003833021.1 645 PREDICTED: phosphatidylinositol-binding clathrin assembly protein isoform X14 [Pan paniscus]
GI:332688231 RefSeq XP_003833021.1 645 PREDICTED: phosphatidylinositol-binding clathrin assembly protein isoform X14 [Pan paniscus]
GI:332688231 RefSeq XP_003910556.1 645 PREDICTED: phosphatidylinositol-binding clathrin assembly protein isoform X13 [Papio anubis]
GI:332688231 RefSeq XP_003910556.1 645 PREDICTED: phosphatidylinositol-binding clathrin assembly protein isoform X13 [Papio anubis]
GI:332688231 RefSeq XP_003952040.1 645 PREDICTED: phosphatidylinositol-binding clathrin assembly protein isoform X15 [Pan troglodytes]
GI:332688231 RefSeq XP_003952040.1 645 PREDICTED: phosphatidylinositol-binding clathrin assembly protein isoform X15 [Pan troglodytes]
GI:332688231 RefSeq XP_004090648.1 645 PREDICTED: phosphatidylinositol-binding clathrin assembly protein [Nomascus leucogenys]
GI:332688231 RefSeq XP_004090648.1 645 PREDICTED: phosphatidylinositol-binding clathrin assembly protein [Nomascus leucogenys]
GI:332688231 RefSeq XP_005579330.1 645 PREDICTED: phosphatidylinositol-binding clathrin assembly protein isoform X8 [Macaca fascicularis]
GI:332688231 RefSeq XP_005579330.1 645 PREDICTED: phosphatidylinositol-binding clathrin assembly protein isoform X8 [Macaca fascicularis]
GI:56788366 RefSeq XP_008018614.1 652 PREDICTED: phosphatidylinositol-binding clathrin assembly protein isoform X6 [Chlorocebus sabaeus]
GI:56788366 RefSeq XP_010354315.1 652 PREDICTED: phosphatidylinositol-binding clathrin assembly protein isoform X7 [Rhinopithecus roxellana]
GI:56788368 RefSeq XP_010354321.1 610 PREDICTED: phosphatidylinositol-binding clathrin assembly protein isoform X13 [Rhinopithecus roxellana]