Phosphatidylinositol-binding clathrin assembly protein (UniProt: Q13492; also known as PICALM, Clathrin assembly lymphoid myeloid leukemia protein) is encoded by the PICALM (also known as CALM) gene (Gene ID: 8301) in human. PICALM is ubiquitously ex
Phosphatidylinositol-binding clathrin assembly protein (UniProt: Q13492; also known as PICALM, Clathrin assembly lymphoid myeloid leukemia protein) is encoded by the PICALM (also known as CALM) gene (Gene ID: 8301) in human. PICALM is ubiquitously expressed protein that co-localizes with clathrin in the Golgi area. Five isoforms of PICALM have been reported that are produced by alternative splicing. PICALM acts as an assembly protein that recruits clathrin and adapter protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. It may also play a role in determining the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. It is reported to be involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. PICALM variants are associated with Alzheimer′s disease and are thought to be involved in the endocytosis and recycling of the amyloid protein precursor and it can affect Alzheimer s disease disk primarily by modulating production, transportation, and clearance of beta-amyloid peptides. (Ref.: Xu, W., et al. (2015). Mol Neurobiol. 52(1);399-413).
Phosphatidylinositol-binding clathrin assembly protein (UniProt: Q13492; also known as PICALM, Clathrin assembly lymphoid myeloid leukemia protein) is encoded by the PICALM (also known as CALM) gene (Gene ID: 8301) in human. PICALM is ubiquitously ex
H/ACA ribonucleoprotein complex subunit 4 (UniProt: O60832; also known as CBF5 homolog, Dyskerin, Nopp140-associated protein of 57 kDa, Nucleolar protein NAP57, Nucleolar protein family A member 4, snoRNP protein DKC1) is encoded by the DKC1 (also kn
Homeobox protein Nkx-6.1 (UniProt: P78426; also known as Homeobox protein NK-6 homolog A) is encoded by the NKX6-1 (also known as NKX6A) gene (gene ID: 4825) in human. Nkx-6.1 is a transcription factor that binds to specific A/T-rich DNA sequences in
Lysyl oxidase homolog 2 (UniProt: Q9Y4K0; also known as EC: 1.4.3.13, Lysyl oxidase-like protein 2, Lysyl oxidase-related protein 2, Lysyl oxidase-related protein WS9-1, LOXL2) is encoded by the LOXL2 gene (Gene ID: 4017) in human. LOXL2 localizes to
Melatonin receptor type 1B (UniProt: P49286; also known as Mel-1B-R, Mel1b receptor) is encoded by the MTNR1B gene (Gene ID: 4544) in human. Mel-1B-R is a member of the G-protein coupled 1 family that is predominantly expressed in retina and to lesse
Programmed cell death 6-interacting protein (UniProt: Q8WUM4; also known as PDCD6-interacting protein, ALG-2-interacting protein 1, ALG-2-interacting protein X, Hp95) is encoded by the PDCD6IP (also known as AIP1, ALIX, KIAA1375) gene (gene ID: 10015
Dysbindin (UniProt: Q96EV8; also known as Biogenesis of lysosome-related organelles complex 1 subunit 8, BLOC-1 subunit 8, Dysbindin-1, Dystrobrevin-binding protein 1, Hermansky-Pudlak syndrome 7 protein, HPS7 protein) is encoded by the DTNBP1 (also
Charged multivesicular body protein 1b (UniProt: Q7LBR1; CHMP1.5, Chromatin-modifying protein 1b, CHMP1b, Vacuolar protein sorting-associated protein 46-2, Vps46-2, hVps46-2) is encoded by the CHMP1B (also known as C18orf2) gene (Gene ID: 57132) in h
Homeobox protein Nkx-6.2 (UniProt Q9C056; also known as Homeobox protein NK-6 homolog B) is encoded by the NKX6-2 (also known as GTX, NKX6B) gene (Gene ID 84504) in human. Mammalian NKX gene products and their orthologs in other species are known to