PICALM

PICALM
Dynodwyr
Cyfenwau	PICALM, CALM, CLTH, LAP, phosphatidylinositol binding clathrin assembly protein
Dynodwyr allanol	OMIM: 603025 HomoloGene: 111783 GeneCards: PICALM
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • clathrin heavy chain binding • clathrin adaptor activity • clathrin binding • 1-phosphatidylinositol binding • GO:0001948, GO:0016582 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 Cydrannau o'r gell • clathrin coat of coated pit • Golgi apparatus • postsynaptic membrane • bilen • neurofibrillary tangle • neuronal cell body • clathrin-coated pit • AP-2 adaptor complex • presynaptic membrane • GO:0016023 cytoplasmic vesicle • cnewyllyn cell • clathrin-coated vesicle • intracellular anatomical structure • fesigl • perinuclear region of cytoplasm • cytosol • intracellular membrane-bounded organelle • early endosome • Cellbilen • 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 Prosesau biolegol • 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 • GO:0060469, GO:0009371 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 • GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity • GO:0034622 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
Orthologau
Species	Bod dynol	Llygoden
Entrez	8301	n/a
Ensembl	ENSG00000073921	n/a
UniProt	Q13492	n/a
RefSeq (mRNA)	NM_001008660 NM_001206946 NM_001206947 NM_007166	n/a
RefSeq (protein)	NP_001008660 NP_001193875 NP_001193876 NP_009097 NP_001008660.1	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn PICALM yw PICALM a elwir hefyd yn Phosphatidylinositol-binding clathrin assembly protein (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 11, band 11q14.2.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn PICALM.

• LAP
• CALM
• CLTH

Llyfryddiaeth

• "Investigation of Genetic Variants Associated with Alzheimer Disease in Parkinson Disease Cognition. ". J Parkinsons Dis. 2016. PMID 26889634.
• "An intronic PICALM polymorphism, rs588076, is associated with allelic expression of a PICALM isoform. ". Mol Neurodegener. 2014. PMID 25169757.
• "Associations of polymorphisms in the candidate genes for Alzheimer's disease BIN1, CLU, CR1 and PICALM with gestational diabetes and impaired glucose tolerance. ". Mol Biol Rep. 2017. PMID 28316001.
• "Quantitative EEG during normal aging: association with the Alzheimer's disease genetic risk variant in PICALM gene. ". Neurobiol Aging. 2017. PMID 28073596.
• "Decreasing the expression of PICALM reduces endocytosis and the activity of β-secretase: implications for Alzheimer's disease.". BMC Neurosci. 2016. PMID 27430330.