PICALM - phosphatidylinositol binding clathrin assembly protein Gene

Homo sapiens

Also known as LAP; CALM; CLTH

Gene ID: 8301 | Gene type: protein coding

About PICALM

Cytogenetic location: 11q14.2 Genomic coordinates (GRCh38): 11:85,957,175-86,069,860 (from NCBI)

This gene has 24 transcripts (splice variants), 268 orthologues, 1 paralogue and is associated with 64 phenotypes. Ubiquitous expression in fat (RPKM 64.4), appendix (RPKM 52.9) and 25 other tissues.

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]

PICALM Products(5)

mRNA	Protein	Name
NM_001008660.3	NP_001008660.1	phosphatidylinositol-binding clathrin assembly protein isoform 2
NM_001206946.2	NP_001193875.1	phosphatidylinositol-binding clathrin assembly protein isoform 3
NM_001206947.2	NP_001193876.1	phosphatidylinositol-binding clathrin assembly protein isoform 4
NM_001411034.1	NP_001397963.1	phosphatidylinositol-binding clathrin assembly protein isoform 5
NM_007166.4	NP_009097.2	phosphatidylinositol-binding clathrin assembly protein isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables SNARE binding	IDA IDA: Inferred from direct assay	22118466	GOA
enables clathrin binding	IDA IDA: Inferred from direct assay	10436022	GOA
enables clathrin heavy chain binding	IDA IDA: Inferred from direct assay	10436022	GOA
enables low-density lipoprotein particle receptor binding	IPI IPI: Inferred from physical interaction	26005850	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16262731	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	26005850	GOA
enables tau protein binding	IPI IPI: Inferred from physical interaction	23589030	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in amyloid-beta clearance by transcytosis	IGI IGI: Inferred from genetic interaction	26005850	GOA
involved in clathrin coat assembly	IDA IDA: Inferred from direct assay	16262731	GOA
involved in clathrin coat assembly	IMP IMP: Inferred from mutant phenotype	16262731	GOA
involved in clathrin-dependent endocytosis	IMP IMP: Inferred from mutant phenotype	22952941	GOA
involved in endocytosis	IDA IDA: Inferred from direct assay	22118466	GOA
involved in endosomal transport	IMP IMP: Inferred from mutant phenotype	16262731	GOA
involved in intracellular iron ion homeostasis	IMP IMP: Inferred from mutant phenotype	22952941	GOA
involved in membrane bending	IMP IMP: Inferred from mutant phenotype	25898166	GOA
involved in multicellular organismal-level iron ion homeostasis	IMP IMP: Inferred from mutant phenotype	22952941	GOA
involved in negative regulation of gene expression	IMP IMP: Inferred from mutant phenotype	22952941	GOA
involved in negative regulation of protein localization to cell surface	IMP IMP: Inferred from mutant phenotype	21221849	GOA
involved in negative regulation of protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	21221849	GOA
involved in negative regulation of receptor-mediated endocytosis	IDA IDA: Inferred from direct assay	10436022	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11425879	GOA
involved in positive regulation of Ras protein signal transduction	IMP IMP: Inferred from mutant phenotype	26005850	GOA
involved in positive regulation of amyloid-beta formation	IMP IMP: Inferred from mutant phenotype	24577224	GOA
involved in receptor internalization	IMP IMP: Inferred from mutant phenotype	14985334	GOA
involved in receptor-mediated endocytosis	IDA IDA: Inferred from direct assay	10436022	GOA
involved in regulation of amyloid precursor protein catabolic process	IMP IMP: Inferred from mutant phenotype	24577224	GOA
involved in regulation of endocytosis	IMP IMP: Inferred from mutant phenotype	18182011	GOA
involved in regulation of protein localization	IDA IDA: Inferred from direct assay	10436022	GOA
involved in regulation of vesicle size	IMP IMP: Inferred from mutant phenotype	25898166	GOA
involved in vesicle budding from membrane	IMP IMP: Inferred from mutant phenotype	25898166	GOA
involved in vesicle cargo loading	IMP IMP: Inferred from mutant phenotype	24577224	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell surface	IDA IDA: Inferred from direct assay	26005850	GOA
part of clathrin coat of coated pit	IDA IDA: Inferred from direct assay	10436022	GOA
located in clathrin-coated pit	IDA IDA: Inferred from direct assay	10436022	GOA
located in clathrin-coated pit	IMP IMP: Inferred from mutant phenotype	25898166	GOA
located in clathrin-coated vesicle	IMP IMP: Inferred from mutant phenotype	25898166	GOA
located in early endosome	IDA IDA: Inferred from direct assay	26005850	GOA
located in endosome to plasma membrane transport vesicle	IDA IDA: Inferred from direct assay	26005850	GOA
located in neurofibrillary tangle	IMP IMP: Inferred from mutant phenotype	23589030	GOA
located in neuronal cell body	IDA IDA: Inferred from direct assay	23589030	GOA
located in nucleus	IDA IDA: Inferred from direct assay	16491119	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	16262731	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PICALM Protein Structure

ANTH

0
100
200
300
400
500
600
652 a.a.

Protein Preferred Names

Protein Names

phosphatidylinositol-binding clathrin assembly protein

clathrin assembly lymphoid myeloid leukemia protein

PICALM Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PICALM	Q13492	EPS15	Homo sapiens	P42566	Anti Tag CoIP	26496610
Intra	PICALM	Q13492	FHL2	Homo sapiens	Q14192	Confocal	22829078
Intra	PICALM	Q13492	FHL2	Homo sapiens	Q14192	Y2H	22829078
Intra	PICALM	Q13492	FHL2	Homo sapiens	Q14192	Anti Bait CoIP	22829078
Intra	PICALM	Q13492	FHL2	Homo sapiens	Q14192	Anti Tag CoIP	22829078

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Leukemia, Acute Myeloid

Acute Myeloid Leukemia	Leukemia, Acute Myelogenous
Acute Myelogenous Leukemia	AML
Leukemia, Acute Myeloid, Susceptibility To	Acute Myeloblastic Leukemia
Leukemia, Acute Myeloid, Reduced Survival In, Somatic	Acute Myeloid Leukaemia
Leukemia, Myelocytic, Acute	Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
Secondary Aml	Acute Myelocytic Leukemia
Acute Myeloid Leukemia, Somatic	Leukemia, Acute Myeloid, Somatic
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic	Acute Myeloblastic Leukaemia
Acute Myelogenous Leukaemia	Aml - Acute Myeloid Leukemia
Acute Myeloid Leukemia With Cebpa Somatic Mutations	Aml With Cebpa Somatic Mutations
Inherited Acute Myeloid Leukemia	Familial Aml
Inherited Aml	Pure Familial Aml
Pure Familial Acute Myeloid Leukemia	Secondary Acute Myeloid Leukemia
Therapy-Related Aml And Myelodysplastic Syndrome	Acute Myeloid Leukemia, Secondary
Acute Non-Lymphoblastic Leukemia	Acute Non-Lymphocytic Leukemia
Acute Biphenotypic Leukemia	Acute Undifferentiated Leukemia
Acute Myeloblastic Leukaemia With Multilineage Dysplasia	Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Precursor T-Cell Acute Lymphoblastic Leukemia

T-All	Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma
Precursor T-Cell Acute Lymphocytic Leukemia	Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Adult T-Cell Lymphoma/Leukemia

Myeloid Leukemia

Myeloid Leukaemia	Leukaemia Myelogenous
Leukemia Myelogenous	Myeloid Granulocytic Leukaemia
Myeloid Granulocytic Leukemia	Non-Lymphocytic Leukemia
Leukemia, Myeloid	Granulocytic Leukaemia
Myelogenous Leukaemia	Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Leukemia

Leukemias	Leukaemia, Unspecified, Without Mention Of Remission
Aleukemic Leukaemia	Chronic Leukaemia
Subacute Leukaemia	Leukaemia Disorder
Leukaemia Nos

Discrete Subaortic Stenosis

Subvalvular Aortic Stenosis

Fixed Subaortic Stenosis	Subaortic Stenosis
Aortic Stenosis, Subvalvular

Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia	ALL
Acute Lymphocytic Leukemia	Leukemia, Acute Lymphocytic, Susceptibility To, 1
Acute Lymphoblastic Leukaemia	Precursor Lymphoblastic Lymphoma/Leukemia
Precursor Lymphoid Neoplasm	Leukemia, Acute Lymphoblastic, Susceptibility To
B-Cell Acute Lymphoblastic Leukemia	Leukemia, Acute Lymphocytic 1
Acute Lymphocytic Leukaemia	Acute Lymphoblastic Leukemia/Lymphoma
All1	Childhood Acute Lymphoblastic Leukemia
Leukemia Acute Lymphoblastic 1	Leukemia Acute Lymphoblastic B-Hyperdiploid
Leukemia Acute Lymphocytic	Leukemia Acute Lymphocytic 1
Leukemia B-Cell Acute Lymphoblastic	Leukemia T-Cell Acute Lymphoblastic
Leukemia, Acute Lymphoblastic, 3	ALL3
Lymphoblastic Leukemia Acute	Leukemia, Acute, Lymphoblastic
Precursor Cell Lymphoblastic Leukemia Lymphoma	Leukemia, Lymphocytic, Acute, L1
Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Alzheimer'S Disease 1

Alzheimer Disease Type 1

Alzheimer'S Disease 1, Early Onset

Hematologic Cancer

Hematologic Neoplasm	Hematologic Neoplasms
Hematologic Malignancies	Blood Cancer
Hematologic Malignancy	Hematological Tumors
Hematopoietic And Lymphoid System Tumor	Hematopoietic Cancer
Hematopoietic Neoplasm	Hematopoietic Tumors
Malignant Hematopoietic Neoplasm	Liquid Tumor
Hematopoietic Neoplasms

Alzheimer Disease 4

AD4	Alzheimer Disease-4
Alzheimer'S Disease 4	Alzheimer Disease, Familial, 4
Alzheimer Disease, Familial4	Alzheimer'S Disease 4, Early Onset
Alzheimer Disease, Type 4

Mild Cognitive Impairment

Dementia, Lewy Body

Lewy Body Dementia	Lewy Body Disease
Diffuse Lewy Body Disease	Dementia With Lewy Bodies
DLB	Autosomal Dominant Diffuse Lewy Body Disease
Cortical Lewy Body Disease	Dementia, Lewy Body, Susceptibility To
Lewy Body Dementia, Susceptibility To	Senile Dementia Of The Lewy Body Type
Dementia Of The Lewy Body Type	Lbd
Diffuse Lewy Body Disease With Gaze Palsy	Dysphasic Dementia Hereditary
Lewy Body Type Senile Dementia	Lewy Body Variant Of Alzheimer Disease
Lewy Bodies	Lewy Body
Dlbd - [Diffuse Lewy Body Disease]	Clbd - [Cortical Lewy Body Disease]

Pick Disease Of Brain

Pick Disease	Pick'S Disease
Pick Disease Of The Brain	Lobar Atrophy Of Brain
Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions	Behavioral Variant Of Frontotemporal Dementia
Dementia In Pick'S Disease	Lobar Atrophy Of The Brain
Bvftd	Bv-Ftd
PIDB	Picks Disease

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10478	PICALM Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PICALM	RGD	RGD:621054
Mus musculus	PICALM	MGD	MGI:2385902
Canis familiaris	PICALM	VGNC	VGNC:44524
Felis catus	PICALM	VGNC	VGNC:64162
Bos taurus	PICALM	VGNC	VGNC:32860
Macaca mulatta	PICALM	VGNC	VGNC:75802
Others	PICALM	NCBI

Name
Email *

	Sorry, but the email address you supplied was invalid.