PKHD1 - PKHD1 ciliary IPT domain containing fibrocystin/polyductin-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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5314 PKHD1

基因描述

Type	Description
Definition	PKHD1 ciliary IPT domain containing fibrocystin/polyductin

研究结论

Date	Results	Publications
2020-11-21 13:25:00	Analysis of the polycystin complex (PCC) in human urinary exosome-like vesicles (ELVs).	32001768
2020-04-04 11:33:00	two novel compound heterozygous PKHD1 mutations were implicated in causing in a Han Chinese family. The results expand the mutation spectrum of PKHD1 that leads to which may improve genetic counseling and prenatal diagnosis for families with	31638247
2020-01-11 11:44:00	PKHD1 mutations increased nonglycolytic acidification rate, consistent with an increase in tricarboxylic acid cycle activity or breakdown of intracellular glycogen. In addition, they increased basal and ATP-linked oxygen consumption rates. The PKHD1 and PKD2 mutations also altered mitochondrial morphology, resembling the effects of polycystin 1 deficiency.	30566001
2019-12-14 10:09:00	Phenotype and genetic analysis of three patients with PKHD1 associated autosomal recessive polycystic kidney disease	31813136
2019-09-28 12:03:00	PKHD1 c.4274T>G (p.Leu1425Arg), c.10445G>C (p.Arg3482Pro), c.5979_5981delTGG and c.9455delA were likely to be pathogenic mutations in infantile polycystic kidney disease	31400123

名称对应

Type	IDs
Synonymous	ARPKD, FCYT, FPC, PKD4, TIGM1
Gene	UniProtKB-ID: PKHD1_HUMAN UniprotKB: P08F94 UniParc: UPI000002B12F, UPI000013C4C0 EMBL: AL355997, AY074797, AL391221, AF480064, AL590391, CH471081, AL121946, AY129465, AL157774, AY092083 Ensembl: ENSG00000170927 KO: hsa:5314
Nucleutide sequences	EMBL-CDS: AAL74290.1, AAM44232.1, AAM18186.1, EAX04359.1, AAM93492.1 Ensembl_TRS: ENST00000371117, ENST00000340994
Protein sequencees	Ensembl_PRO: ENSP00000341097, ENSP00000360158 RefSeq: NP_619639.3, XP_016866434.1, XP_011512986.1, XP_016866437.1, XP_016866433.1, XP_016866439.1, XP_011512993.1, XP_016866440.1, XP_016866436.1, XP_011512985.1, XP_011512984.1, XP_016866438.1, NP_733842.2, XP_011512990.1, XP_016866441.1, XP_011512992.1, XP_011512982.1, XP_011512989.1, XP_016866435.1, XP_011512988.1, XP_011512987.1
Others	UniRef100: UniRef100_P08F94 UniRef90: UniRef90_P08F94 UniRef50: UniRef50_P08F94 UniGene: Hs.662050 CCDS: CCDS4935.1, CCDS4936.1

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mRNA

Protein

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Description

Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
31900314	AMPK Interactome Reveals New Function in Non-homologous End Joining DNA Repair. Mol Cell Proteomics Zhen Chen , Chao Wang , Antrix Jain , Mrinal Srivastava , Mengfan Tang , Huimin Zhang , Xu Feng , Litong Nie , Dan Su , Yun Xiong , Sung Yun Jung , Jun Qin , Junjie Chen	2020-03-01	-
32001768	Analysis of the polycystin complex (PCC) in human urinary exosome-like vesicles (ELVs). Sci Rep Wendy A Lea , Kerri McGreal , Madhulika Sharma , Stephen C Parnell , Lesya Zelenchuk , M Cristine Charlesworth , Benjamin J Madden , Kenneth L Johnson , Daniel J McCormick , Marie C Hogan , Christopher J Ward	2020-01-30	-
31813136	[Phenotype and genetic analysis of three patients with PKHD1 associated autosomal recessive polycystic kidney disease at childhood, teenage and advanced age]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi Qinghua Wu , Can Wang , Saisai Yang , Huirong Shi , Xiyang Ma , Xiangdong Kong , Shumin Ren , Zhihui Jiao , Yiwen Zhai	2019-12-10	-
31638247	Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family. Mol Med Rep Jin Wang , Dandan Qi , Jialiang Yang , Dingding Zhang , Qingwei Wang , Xueming Ju , Xiang Zhong	2019-12-01	-
31400123	[Prenatal diagnosis and genetic counseling in two pedigrees affected with infantile polycystic kidney disease due to PKHD1 gene mutations]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi Qinying Cao , Weixia Zhang , Jun Ge , Donglan Sun , Qingqi Feng , Caixia Li , Yucui Meng , Junzhen Zhu	2019-08-10	-
30898581	Loss of fibrocystin promotes interleukin-8-dependent proliferation and CTGF production of biliary epithelium. J Hepatol Tomoyuki Tsunoda , Sei Kakinuma , Masato Miyoshi , Akihide Kamiya , Shun Kaneko , Ayako Sato , Jun Tsuchiya , Sayuri Nitta , Fukiko Kawai-Kitahata , Miyako Murakawa , Yasuhiro Itsui , Mina Nakagawa , Seishin Azuma , Tsuyoshi Sogo , Haruki Komatsu , Ryutaro Mukouchi , Ayano Inui , Tomoo Fujisawa , Hiromitsu Nakauchi , Yasuhiro Asahina , Mamoru Watanabe	2019-07-01	-
30617278	A rare deep intronic mutation of PKHD1 gene, c.8798-459âCâ>âA, causes autosomal recessive polycystic kidney disease by pseudoexon activation. J. Hum. Genet. Jing Chen , Na Ma , Xiaomeng Zhao , Wen Li , Qianjun Zhang , Shimin Yuan , Yue-Qiu Tan , Guangxiu Lu , Ge Lin , Juan Du	2019-03-01	-
30566001	Truncating PKHD1 and PKD2 mutations alter energy metabolism. Am J Physiol Renal Physiol Phillip Chumley , Juling Zhou , Sylvie Mrug , Balu Chacko , John M Parant , Anil K Challa , Landon S Wilson , Taylor F Berryhill , Stephen Barnes , Robert A Kesterson , P Darwin Bell , Victor M Darley-Usmar , Bradley K Yoder , Michal Mrug	2019-03-01	-
30745168	POH1 contributes to hyperactivation of TGF-Î² signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-Î² receptors and caveolin-1. EBioMedicine Boshi Wang , Xiaoli Xu , Zhaojuan Yang , Li Zhang , Yun Liu , Aihui Ma , Guiqin Xu , Ming Tang , Tiantian Jing , Lin Wu , Yongzhong Liu	2019-03-01	-
30507656	Short article: Sequence variations of PKHD1 underlie congenital hepatic fibrosis in a Chinese family. Eur J Gastroenterol Hepatol Ni Yang , Yunji Leng , Shundong Dai , Chen Chen , Chunfeng Liu , Lihua Cao	2019-03-01	-

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