PICALM - phosphatidylinositol binding clathrin assembly protein Gene

Also Known as LAP; CALM; CLTH

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8301

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	Verweise	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	Verweise	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	Verweise	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

PICALM Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P87010	PICALM Antibody (YA6703)	WB, IHC-P	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS10478	PICALM Human Pre-designed siRNA Set A	Pre-designed Set	/	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