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Protein-coding gene in the species Homo sapiens
Clathrin interactor 1 (CLINT1 ), also known as EPSIN4 , is a protein which in humans is encoded by the CLINT1 gene .[ 5] [ 6] [ 7]
The CLINT1 protein binds to the terminal domain of the clathrin heavy chain and stimulates clathrin cage vesicle assembly. Clathrin coated vesicles enable neurotransmitter receptors and other proteins to be endocytosed or taken up across neuronal membranes and across the membranes of other types of cells. This enables a turnover of neuroreceptors or other proteins to be maintained and thus the numbers of receptors can be fine tuned.[ 6]
Clinical significance [ edit ] The CLINT1 gene has been shown to be involved in the genetic aetiology of schizophrenia in four studies [ 8] [ 9] [ 10] [ 11] [ 12] antipsychotic drugs chlorpromazine and clozapine stabilise clathrin coated vesicles[ 13] [ 14]
CLINT1 has been shown to interact with GGA2 .[ 6] [ 7]
^ a b c GRCh38: Ensembl release 89: ENSG00000113282 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006169 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Entrez Gene: CLINT1 clathrin interactor 1" .^ a b c Wasiak S, Legendre-Guillemin V, Puertollano R, Blondeau F, Girard M, de Heuvel E, Boismenu D, Bell AW, Bonifacino JS, McPherson PS (September 2002). "Enthoprotin: a novel clathrin-associated protein identified through subcellular proteomics" . J. Cell Biol . 158 (5): 855–62. doi :10.1083/jcb.200205078 . PMC 2173151 PMID 12213833 . ^ a b Kalthoff C, Groos S, Kohl R, Mahrhold S, Ungewickell EJ (November 2002). "Clint: a novel clathrin-binding ENTH-domain protein at the Golgi" . Mol. Biol. Cell . 13 (11): 4060–73. doi :10.1091/mbc.E02-03-0171 . PMC 133614 PMID 12429846 . ^ Pimm J, McQuillin A, Thirumalai S, Lawrence J, Quested D, Bass N, Lamb G, Moorey H, Datta SR, Kalsi G, Badacsonyi A, Kelly K, Morgan J, Punukollu B, Curtis D, Gurling H (May 2005). "The Epsin 4 gene on chromosome 5q, which encodes the clathrin-associated protein enthoprotin, is involved in the genetic susceptibility to schizophrenia" . Am. J. Hum. Genet . 76 (5): 902–7. doi :10.1086/430095 . PMC 1199380 PMID 15793701 . ^ Gurling H, Pimm J, McQuillin A (January 2007). "Replication of genetic association studies between markers at the Epsin 4 gene locus and schizophrenia in two Han Chinese samples". Schizophr. Res . 89 (1–3): 357–9. doi :10.1016/j.schres.2006.08.024 . PMID 17070672 . S2CID 43407088 . ^ Tang RQ, Zhao XZ, Shi YY, Tang W, Gu NF, Feng GY, Xing YL, Zhu SM, Sang H, Liang PJ, He L (April 2006). "Family-based association study of Epsin 4 and Schizophrenia" . Mol. Psychiatry . 11 (4): 395–9. doi :10.1038/sj.mp.4001780 PMID 16402136 . ^ Liou YJ, Lai IC, Wang YC, Bai YM, Lin CC, Lin CY, Chen TT, Chen JY (June 2006). "Genetic analysis of the human ENTH (Epsin 4) gene and schizophrenia". Schizophr. Res . 84 (2–3): 236–43. doi :10.1016/j.schres.2006.02.021 . PMID 16616458 . S2CID 23934037 . ^ Escamilla M, Lee BD, Ontiveros A, Raventos H, Nicolini H, Mendoza R, Jerez A, Munoz R, Medina R, Figueroa A, Walss-Bass C, Armas R, Contreras S, Ramirez ME, Dassori A (December 2008). "The epsin 4 gene is associated with psychotic disorders in families of Latin American origin". Schizophr. Res . 106 (2–3): 253–7. doi :10.1016/j.schres.2008.09.005 . PMID 18929466 . S2CID 24978042 . ^ Phonphok Y, Rosenthal KS (April 1991). "Stabilization of clathrin coated vesicles by amantadine, tromantadine and other hydrophobic amines" . FEBS Lett . 281 (1–2): 188–90. doi :10.1016/0014-5793(91)80390-O PMID 1901801 . S2CID 8197032 . ^ Claing A, Perry SJ, Achiriloaie M, Walker JK, Albanesi JP, Lefkowitz RJ, Premont RT (February 2000). "Multiple endocytic pathways of G protein-coupled receptors delineated by GIT1 sensitivity" . Proc. Natl. Acad. Sci. U.S.A . 97 (3): 1119–24. Bibcode :2000PNAS...97.1119C . doi :10.1073/pnas.97.3.1119 PMC 15541 PMID 10655494 .
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