Citations for
1DEL7Q11.23, HIP1
Genetic Generalized Epilepsy and Intrafamilial Phenotypic Variability with Distal 7q11.23 Deletion.
Birca V, Myers KA.
Child Neurol Open Apr 21;9:2329048X221093173. doi: 10.1177/2329048X221093173. eCollection 2022 Jan-Dec 2022
2HIP1, MOBP, SNCA
MOBP and HIP1 in multiple system atrophy: New α-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis.
Bettencourt C, Miki Y, Piras IS, de Silva R, Foti SC, Talboom JS, Revesz T, Lashley T, Balazs R, Viré E, Warner TT, Huentelman MJ, Holton JL.
Neuropathol Appl Neurobiol. Aug;47(5):640-652. doi: 10.1111/nan.12688. Epub 2021 Jan 19. 2021
3HIP1, MOBP
White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy.
Bettencourt C, Foti SC, Miki Y, Botia J, Chatterjee A, Warner TT, Revesz T, Lashley T, Balazs R, Viré E, Holton JL.
Acta Neuropathol. Jan;139(1):135-156. doi: 10.1007/s00401-019-02074-0. Epub 2019 Sep 18. 2020
4DEL7Q11.23, HIP1
Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation
Faundes V, Santa María L, Morales P, Curotto B, Parraguez MM.
Mol Syndromol. Oct;7(5):287-291. doi: 10.1159/000448698. Epub 2016 Aug 24. 2016
5HIP1
Huntingtin-interacting protein 1 phosphorylation by receptor tyrosine kinases.
Ames HM, Wang AA, Coughran A, Evaul K, Huang S, Graves CW, Soyombo AA, Ross TS.
Mol Cell Biol 33(18):3580-93. doi: 10.1128/MCB.00473-13. Epub 2013 Jul 8. 2013
6HIP1
Huntingtin-interacting protein 1: a Merkel cell carcinoma marker that interacts with c-Kit.
Ames HM, Bichakjian CK, Liu GY, Oravecz-Wilson KI, Fullen DR, Verhaegen ME, Johnson TM, Dlugosz AA, Ross TS.
J Invest Dermatol 131(10):2113-20. doi: 10.1038/jid.2011.171. Epub 2011 Jun 23. 2011
7HIP1, IFT57, REST
Regulation of RE1 protein silencing transcription factor (REST) expression by HIP1 protein interactor (HIPPI).
Datta M, Bhattacharyya NP.
J Biol Chem 286(39):33759-69. Epub 2011 Aug 6. 2011
8DEL7Q1123, HIP1, YWHAG
Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems.
Ramocki MB, Bartnik M, Szafranski P, Kołodziejska KE, Xia Z, Bravo J, Miller GS, Rodriguez DL, Williams CA, Bader PI, Szczepanik E, Mazurczak T, Antczak-Marach D, Coldwell JG, Akman CI, McAlmon K, Cohen MP, McGrath J, Roeder E, Mueller J, Kang SH, Bacino CA, Patel A, Bocian E, Shaw CA, Cheung SW, Mazurczak T, Stankiewicz P.
Am J Hum Genet 87(6):857-65. Epub 2010 Nov 25.PMID: 21109226 2010
9HIP1
Accommodation of structural rearrangements in the huntingtin-interacting protein 1 coiled-coil domain.
Wilbur JD, Hwang PK, Brodsky FM, Fletterick RJ.
Acta Crystallogr D Biol Crystallogr 66(Pt 3):314-8. Epub 2010 Feb 12. 2010
10HIP1
HIP1 exhibits an early recruitment and a late stage function in the maturation of coated pits.
Gottfried I, Ehrlich M, Ashery U.
Cell Mol Life Sci 66(17):2897-911. Epub 2009 Jul 22. 2009
11HIP1, HIP1R
Actin binding by Hip1 (huntingtin-interacting protein 1) and Hip1R (Hip1-related protein) is regulated by clathrin light chain.
Wilbur JD, Chen CY, Manalo V, Hwang PK, Fletterick RJ, Brodsky FM.
J Biol Chem 283(47):32870-9. Epub 2008 Sep 12. 2008
12HIP1
Huntingtin interacting protein 1 can regulate neurogenesis in Drosophila.
Moores JN, Roy S, Nicholson DW, Staveley BE.
Eur J Neurosci 28(3):599-609. 2008
13HIP1
Crystal structure at 2.8 A of Huntingtin-interacting protein 1 (HIP1) coiled-coil domain reveals a charged surface suitable for HIP1 protein interactor (HIPPI).
Niu Q, Ybe JA.
J Mol Biol 375(5):1197-205. Epub 2007 Nov 22. 2008
14HIP1,HIP1R
Degenerative phenotypes caused by the combined deficiency of murine HIP1 and HIP1r are rescued by human HIP1.
Bradley SV, Hyun TS, Oravecz-Wilson KI, Li L, Waldorff EI, Ermilov AN, Goldstein SA, Zhang CX, Drubin DG, Varela K, Parlow A, Dlugosz AA, Ross TS.
Hum Mol Genet 16(11):1279-92. Epub 2007 Apr 23. 2007
15EPN1, HIP1
Partially overlapping distribution of epsin1 and HIP1 at the synapse: analysis by immunoelectron microscopy.
Yao PJ, Bushlin I, Petralia RS.
J Comp Neurol 494(2):368-79. 2006
16HIP1
Huntingtin interacting protein 1 (HIP1) regulates clathrin assembly through direct binding to the regulatory region of the clathrin light chain.
Legendre-Guillemin V, Metzler M, Lemaire JF, Philie J, Gan L, Hayden MR, McPherson PS.
J Biol Chem 280(7):6101-8. Epub 2004 Nov 8. 2005
17HIP1, HIP1R
Huntingtin-interacting protein 1 (Hip1) and Hip1-related protein (Hip1R) bind the conserved sequence of clathrin light chains and thereby influence clathrin assembly in vitro and actin distribution in vivo.
Chen CY, Brodsky FM.
J Biol Chem 280(7):6109-17. Epub 2004 Nov 8. 2005
18CLTA, HIP1, HIP1R
Huntingtin-interacting protein 1 (Hip1) and Hip1-related protein (Hip1R) bind the conserved sequence of clathrin light chains and thereby influence clathrin assembly in vitro and actin distribution in vivo.
Chen CY, Brodsky FM.
J Biol Chem 280(7):6109-17. Epub 2004 Nov 8. 2005
19HIP1, HIP1R
Huntingtin Interacting Protein 1 mutations lead to abnormal hematopoiesis, spinal defects and cataracts.
Oravecz-Wilson KI, Kiel MJ, Li L, Rao DS, Saint-Dic D, Kumar PD, Provot MM, Hankenson KD, Reddy VN, Lieberman AP, Morrison SJ, Ross TS.
Hum Mol Genet 13(8):851-67. Epub 2004 Mar 03. 2004
20CLINT1, EPN1, EPN2, EPN3, HIP1, HIP1R
A role for epsin N-terminal homology/AP180 N-terminal homology (ENTH/ANTH) domains in tubulin binding.
Hussain NK, Yamabhai M, Bhakar AL, Metzler M, Ferguson SS, Hayden MR, McPherson PS, Kay BK.
J Biol Chem 278(31):28823-30. Epub 2003 May 15. 2003
21CASP8, IFT57, HIP1
Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi.
Gervais FG, Singaraja R, Xanthoudakis S, Gutekunst CA, Leavitt BR, Metzler M, Hackam AS, Tam J, Vaillancourt JP, Houtzager V, Rasper DM, Roy S, Hayden MR, Nicholson DW.
Nat Cell Biol 4(2):95-105. 2002
22HIP1, HIP1R
HIP1 and HIP12 display differential binding to F-actin, AP2, and clathrin. Identification of a novel interaction with clathrin light chain.
Legendre-Guillemin V, Metzler M, Charbonneau M, Gan L, Chopra V, Philie J, Hayden MR, McPherson PS.
J Biol Chem 277(22):19897-904. Epub 2002 Mar 11. 2002
23HIP1
Huntingtin-interacting protein 1 is overexpressed in prostate and colon cancer and is critical for cellular survival.
Rao DS, Hyun TS, Kumar PD, Mizukami IF, Rubin MA, Lucas PC, Sanda MG, Ross TS.
J Clin Invest 110(3):351-60. 2002
24HIP1
The huntingtin interacting protein HIP1 is a clathrin and alpha-adaptin-binding protein involved in receptor-mediated endocytosis.
Waelter S, Scherzinger E, Hasenbank R, Nordhoff E, Lurz R, Goehler H, Gauss C, Sathasivam K, Bates GP, Lehrach H, Wanker EE.
Hum Mol Genet 10(17):1807-17. 2001
25HIP1
HIP1 functions in clathrin-mediated endocytosis through binding to clathrin and adaptor protein 2.
Metzler M, Legendre-Guillemin V, Gan L, Chopra V, Kwok A, McPherson PS, Hayden MR.
J Biol Chem 276(42):39271-6. 2001
26HIP1, HIP1R, HTT
HIP12 is a non-proapoptotic member of a gene family including HIP1, an interacting protein with huntingtin.
Chopra VS, Metzler M, Rasper DM, Engqvist-Goldstein AE, Singaraja R, Gan L, Fichter KM, McCutcheon K, Drubin D, Nicholson DW, Hayden MR.
Mamm Genome 11(11):1006-15. 2000
27GAPDH, HAP1, HTT, HIP1, UBE2K
Recent advances on the pathogenesis of Huntington's disease.
Petersen A, Mani K, Brundin P.
Exp Neurol 157(1):1-18. Review. 1999
28HIP1, PDGFRB
Fusion of Huntingtin interacting protein 1 to platelet-derived growth factor beta receptor (PDGFbetaR) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2).
Ross TS, Bernard OA, Berger R, Gilliland DG.
Blood 91(12):4419-26. 1998
29HTT, HIP1
HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain.
Kalchman MA, et al.
Nat Genet 16 : 44-53. 1997
30HIP1
HIP-I : a huntingtin interacting protein isolated by the yeast two-hybrid system.
Wanker EE, et al.
Hum Mol Genet 6 : 487-495. 1997
31ELN, HIP1
Localization of the human HIP1 gene close to the elastin (ELN) locus on 7q11.23.
Wedemeyer N, Peoples R, Himmelbauer H, Lehrach H, Francke U, Wanker EE.
Genomics 46(2):313-5. 1997