PICALM

PICALM
Identifiers
Aliases	PICALM, CALM, CLTH, LAP, phosphatidylinositol binding clathrin assembly protein
External IDs	OMIM: 603025 MGI: 2385902 HomoloGene: 111783 GeneCards: PICALM
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q14.2 Start 85,957,175 bp[1] End 86,069,882 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 D3|7 50.47 cM Start 89,779,421 bp[2] End 89,862,673 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon corpus callosum subcutaneous adipose tissue gallbladder tibial nerve monocyte right coronary artery ascending aorta left coronary artery smooth muscle tissue Top expressed in interventricular septum left lung lobe belly cord body of femur calvaria sciatic nerve dermis spleen seminal vesicula brown adipose tissue More reference expression data BioGPS More reference expression data
Gene ontology Molecular function clathrin heavy chain binding clathrin adaptor activity clathrin binding 1-phosphatidylinositol binding protein binding phospholipid binding cadherin binding SNARE binding amyloid-beta binding phosphatidylinositol-4,5-bisphosphate binding tau protein binding low-density lipoprotein particle receptor binding Cellular component clathrin coat of coated pit Golgi apparatus postsynaptic membrane membrane neurofibrillary tangle neuronal cell body clathrin-coated pit AP-2 adaptor complex presynaptic membrane cytoplasmic vesicle nucleus clathrin-coated vesicle intracellular anatomical structure vesicle perinuclear region of cytoplasm cytosol intracellular membrane-bounded organelle early endosome plasma membrane cell surface intrinsic component of membrane clathrin-coated endocytic vesicle endosome to plasma membrane transport vesicle synaptic vesicle extrinsic component of presynaptic endocytic zone membrane Biological process regulation of endocytosis endocytosis iron ion homeostasis receptor internalization positive regulation of neuron death regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process negative regulation of gene expression regulation of protein localization negative regulation of receptor-mediated endocytosis positive regulation of transcription, DNA-templated endosomal transport clathrin coat assembly cell population proliferation vesicle-mediated transport axonogenesis hemopoiesis clathrin-dependent endocytosis negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process synaptic vesicle maturation positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process vesicle cargo loading receptor-mediated endocytosis dendrite morphogenesis positive regulation of amyloid-beta formation membrane organization iron ion import across plasma membrane vesicle budding from membrane learning or memory positive regulation of GTPase activity protein-containing complex assembly regulation of vesicle size membrane bending amyloid-beta clearance by transcytosis regulation of amyloid-beta formation negative regulation of protein localization to plasma membrane clathrin-coated pit assembly negative regulation of protein localization to cell surface synaptic vesicle budding from presynaptic endocytic zone membrane synaptic vesicle endocytosis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8301 233489 Ensembl ENSG00000073921 ENSMUSG00000039361 UniProt Q13492 Q7M6Y3 RefSeq (mRNA) NM_001008660 NM_001206946 NM_001206947 NM_007166 NM_001252520 NM_001252521 NM_001252522 NM_001252523 NM_001252524 NM_146194 NM_001360867 RefSeq (protein) NP_001008660 NP_001193875 NP_001193876 NP_009097 NP_001008660.1 NP_001239449 NP_001239450 NP_001239451 NP_001239452 NP_001239453 NP_666306 NP_001347796 Location (UCSC) Chr 11: 85.96 – 86.07 Mb Chr 7: 89.78 – 89.86 Mb PubMed search [3] [4]
Wikidata
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Phosphatidylinositol binding clathrin assembly protein, also known as PICALM, is a protein which in humans is encoded by the PICALM gene.^[5]

Interactions

PICALM has been shown to interact with CLTC.^[6]

Clinical significance

In humans, certain alleles of this gene have been statistically associated with an increased risk of developing late-onset Alzheimer's disease.^[7]

References

Further reading

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.

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This page was last edited on 4 March 2023, at 00:44