Hps5 - HPS5, biogenesis of lysosomal organelles complex 2 subunit 2-BMKCloudï½ç¾è¿å®¢äº

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246694 Hps5

基因描述

Type	Description
Definition	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2

研究结论

Date	Results	Publications
2017-11-18 12:51:00	Nonsense Mutation in HPS5 gene is associated with hypopigmentation in colitis mice.	27333462
2014-05-10 12:12:00	Effects of the ru2(d) allele on pheomelanin synthesis were investigated.	23672590
2012-12-22 11:14:00	These results suggest that the ru2(d) allele suppresses the differentiation of melanocytes through the inhibition of eumelanin synthesis, but stimulates pheomelanin synthesis in melanocytes.	23030338
2012-03-10 10:25:00	These results suggest that the ru2(d) allele inhibits melanocyte differentiation, and that its impaired differentiation is rescued by excess tyrosine.	22035301

名称对应

Type	IDs
Synonymous	AI646796, AL022647, C85120, haze, hz, maroon, mr, ru-2, ru2
Gene	UniProtKB-ID: HPS5_MOUSE, E9Q3X4_MOUSE, Q640Q9_MOUSE UniprotKB: P59438, E9Q3X4, Q640Q9 UniParc: UPI00027DB79E, UPI00004408C5, UPI00015AA535, UPI00001929E1, UPI00001946E7 EMBL: AF534399, BC082542, BC046405, AF534396, AC090122, AF534398, CH466603, AF534397 Ensembl: ENSMUSG00000014418 KO: mmu:246694
Nucleutide sequences	EMBL-CDS: AAO25960.1, AAH46405.1, AAO25958.1, AAO25961.1, AAO25959.1, EDL22943.1, EDL22941.1, EDL22942.1, AAH82542.1 Ensembl_TRS: ENSMUST00000142663, ENSMUST00000014562, ENSMUST00000107654, ENSMUST00000107653
Protein sequencees	Ensembl_PRO: ENSMUSP00000103281, ENSMUSP00000122887, ENSMUSP00000014562, ENSMUSP00000103280 RefSeq: XP_006540968.1, XP_036009021.1, NP_001005247.2, XP_006540967.1, XP_017177758.1, XP_017177757.1, NP_001161336.1, XP_030098451.1, XP_030098452.1, NP_001005248.2
Others	UniRef100: UniRef100_Q640Q9, UniRef100_P59438, UniRef100_E9Q3X4 UniRef90: UniRef90_P59438 UniRef50: UniRef50_P59438 UniGene: Mm.379442 CCDS: CCDS21286.1

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mRNA

Protein

UniprotKB

Description

Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
27333462	Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation. Pigment Cell Melanoma Res Yumi Itoh , Yasuo Nagaoka , Yoshio Katakura , Hidehisa Kawahara , Hiroshi Takemori	2016-09-01	-
23672590	The mouse ruby-eye 2(d) (ru2(d) /Hps5(ru2-d) ) allele inhibits eumelanin but not pheomelanin synthesis. Pigment Cell Melanoma Res Tomohisa Hirobe , Shosuke Ito , Kazumasa Wakamatsu	2013-09-01	Hps5
23030338	A new mutation of mouse ruby-eye 2, ru2(d)/Hps5(ru2-d) inhibits eumelanin synthesis but stimulates pheomelanin synthesis in melanocytes. Zool. Sci. Tomohisa Hirobe , Kazumasa Wakamatsu , Shosuke Ito	2012-10-01	Hps5
22984402	Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis. PLoS ONE Rivka A Rachel , Kunio Nagashima , T Norene O'Sullivan , Laura S Frost , Frank P Stefano , Valeria Marigo , Kathleen Boesze-Battaglia	2012-01-01	Hps3, Myo5a, Gpr143, Hps6, Hps5, Mreg
22035301	A novel deletion mutation of mouse ruby-eye 2 named ru2(d)/Hps5(ru2-d) inhibits melanocyte differentiation and its impaired differentiation is rescued by L-tyrosine. Zool. Sci. Tomohisa Hirobe , Chihiro Yoshihara , Sakae Takeuchi , Kazumasa Wakamatsu , Shosuke Ito , Hiroyuki Abe , Yoko Kawa , Yoshinao Soma	2011-11-01	Hps5
21677750	A conditional knockout resource for the genome-wide study of mouse gene function. Nature William C Skarnes , Barry Rosen , Anthony P West , Manousos Koutsourakis , Wendy Bushell , Vivek Iyer , Alejandro O Mujica , Mark Thomas , Jennifer Harrow , Tony Cox , David Jackson , Jessica Severin , Patrick Biggs , Jun Fu , Michael Nefedov , Pieter J de Jong , A Francis Stewart , Allan Bradley	2011-06-15	-
21045126	Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells. Proc. Natl. Acad. Sci. U.S.A. Amanda L Blasius , Carrie N Arnold , Philippe Georgel , Sophie Rutschmann , Yu Xia , Pei Lin , Charles Ross , Xiaohong Li , Nora G Smart , Bruce Beutler	2010-11-16	Slc15a4, Ticam1, Ap3b1, Rab27a, Irf8, Myd88, Bloc1s6, Hps6, Slc45a2, Hps5, Irak4, Irf7, Unc93b1, Tlr9, Dtnbp1
19010779	Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells. J Biol Chem Gloria Salazar , Stephanie Zlatic , Branch Craige , Andrew A Peden , Jan Pohl , Victor Faundez	2009-01-16	-
18799693	Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Genome Res. Gwenn M Hansen , Diane C Markesich , Michael B Burnett , Qichao Zhu , Karen M Dionne , Lizabeth J Richter , Richard H Finnell , Arthur T Sands , Brian P Zambrowicz , Alejandro Abuin	2008-10-01	Gm11335, Gm17762, A930017K11Rik, BC028777, Gm13999, Gm11696, Gm12359, Gm10589, D030047H15Rik, Gm10856, Gm10685, Gm10062, Gm10433, Gm10648, Gm10840, Gm15441, Gm10684, Gm9900, Gm10822, Gm10687, Gm11744, Gm10747, Arih2os, B230344G16Rik, Fmr1os, Tmem51os1, Gm14488, Gm13033, Gm10789, Gm10615, Gm1976, Gm9967, Gm9917, Gm1974, Gm11496, Gm13580, Gm2085, Gm2183, Gm2245, Tbx3os1, Gm12980, Gm2329, Lncenc1, Gm2381, Snhg12, Gm2479, Gm12942, Gm2529, Gm2533, Rpl30-ps7, Rsf1os2, Gm2695, 2810416G20Rik, Rpl30-ps6, Gm2773, Gm2788, Dynlt1f, Gm9793, Gm2885, Gm2920, Gm15506, Gm11627, Gm10518, Gm13496, Gm3134, Gm12827, Gm3143, Gm10144, Ahnak2, Gm3196, Gm13242, Gm3325, Gm13247, Gm10863, Gm13157, 4930522L14Rik, Gm3552, Gm15226, Gm3604, Gm3643, BC005561, Gm3716, 2810410L24Rik, Gm10282, Gm3839, Nhsl2, 4732419C18Rik, Gm3906, Gm3973, Gm4013, Apol7d, Gm12057, Gm10489, Rex2, 1110002L01Rik, Gm4189, Gm4204, 4632428C04Rik, 9130023H24Rik
17967808	EUCOMM--the European conditional mouse mutagenesis program. Brief Funct Genomic Proteomic Roland H Friedel , Claudia Seisenberger , Cornelia Kaloff , Wolfgang Wurst	2007-09-01	Gm11696, Gm10589, Apela, Gm10822, Gm2085, Gm2312, Lncenc1, Gm2381, Gm2659, Gm2679, Dynlt1c, Gm3134, Gm3143, Gm3236, Gm3574, Gm3581, Gm3718, Gm3859, Gm3905, Gm3952, Gm3957, Gm3973, Gm12057, Rex2, Gm4218, Gm4225, Gm16476, Gm4407, Gm14410, Gm4420, Gm14005, 1300002E11Rik, Gm4532, Srcap, Gm17789, Gm10751, Gm14321, 0610009E02Rik, Gm12758, Gm11532, Phactr4, Rusc2, AK010878, Gm10778, 5830417I10Rik, Mir1902, Gm15270, Gm11767, Ino80dos, Bsdc1, Gm7645, Gm20590, Slc44a1, Gm15545, Gm17292, 2900009J06Rik, Kifc1, Gm13150, Gm19426, Gm19428, Gm19474, Gm14963, Gm19565, Gm19592, Gm12588, Snhg4, Gm19702, Gm19705, Platr22, Nuggc, Zfp534, Gm19860, Gm11725, Gm19876, Gm19889, Gm16201, Gm13056, Tnfsf13os, Gm19925, Gm19976, Gm20014, Gm16740, Gm20039, Gm20045, AU020206, Ccdc170, Trp53cor1, Gm20266, Gm20324, Zfp518b, Gm14401, AI480526, Pds5b, Ube3c, Gm21297, Akap9, Gm29724, Itfg2, Parp11

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