DCAF17 - DDB1 and CUL4 associated factor 17-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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80067 DCAF17

基因描述

Type	Description
Definition	DDB1 and CUL4 associated factor 17

研究结论

Date	Results	Publications
2020-04-18 10:44:00	Analysis of the exome data revealed a start loss sequence variant (c.1A>G, p.M1?) in DCAF17 in a Pakastani family with Woodhouse-Sakati syndrome. This variant is predicted to abolish translation of the DCAF17 polypeptide. To our knowledge, this is the first start loss variant identified in the DCAF17.	31323129
2019-10-05 10:37:00	Exome sequencing in 5 women with syndromic hypergonadotropic hypogonadism from 2 unrelated families revealed novel pathogenic variants in the DCAF17 gene. DCAF17 exon 2 (c.127-1G > C) novel homozygous variants were discovered in 4 Turkish siblings, while 1 American was compound heterozygous for 1-stop gain variant in exon 5 (c.C535T; p.Gln179) and previously described stop gain variant in exon 9 (c.G906A; p.Trp302).	29178422
2018-12-01 10:55:00	The phenotypic variability of Woodhouse-Sakati syndrome due to c.436delC founder DCAF17 mutation may have a wider range than previously recognized.	29574468
2017-07-01 11:23:00	This signifies the vital yet unexplored role of DCAF17 both in development and maintenance of adult tissues homeostasis.	26612766
2016-04-18 01:07:00	two novel frameshift mutations in C2orf37 present in the compound heterozygous state in an Indian family with Woodhouse-Sakati syndrome, is reported.	26440089

名称对应

Type	IDs
Synonymous	C20orf37, C2orf37
Gene	UniProtKB-ID: DCA17_HUMAN, F5H7W1_HUMAN UniprotKB: Q5H9S7, F5H7W1 UniParc: UPI0001B8380C, UPI00004C429A, UPI0000051FCF EMBL: AC007969, KF456738, CH471058, CR933646, AK023158, KF456735, BC120957, BC140843 Ensembl: ENSG00000115827 KO: hsa:80067
Nucleutide sequences	EMBL-CDS: BAB14436.1, AAY14729.1, EAX11213.1, AAI20958.1, AAI40844.1, CAI45947.1 Ensembl_TRS: ENST00000375255, ENST00000611110, ENST00000539783
Protein sequencees	Ensembl_PRO: ENSP00000477604, ENSP00000364404, ENSP00000442238 RefSeq: XP_006712831.1, XP_016860484.1, XP_016860486.1, XP_006712830.1, XP_016860485.1, XP_011510184.1, NP_079276.2, XP_011510183.1, NP_001158293.1, XP_016860488.1, XP_016860490.1, XP_016860491.1, XP_016860487.1, XP_016860489.1
Others	UniRef100: UniRef100_Q5H9S7, UniRef100_F5H7W1 UniRef90: UniRef90_Q5H9S7, UniRef90_F5H7W1 UniRef50: UniRef50_Q5H9S7 UniGene: Hs.659439 CCDS: CCDS2243.2

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mRNA

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Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
31323129	Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene. Clin. Exp. Dermatol. K Shah , A Jan , F Ahmad , S Basit , K Ramzan , W Ahmad	2020-03-01	-
29987050	Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Proc. Natl. Acad. Sci. U.S.A. Tengfei Xiao , Wei Li , Xiaoqing Wang , Han Xu , Jixin Yang , Qiu Wu , Ying Huang , Joseph Geradts , Peng Jiang , Teng Fei , David Chi , Chongzhi Zang , Qi Liao , Jonathan Rennhack , Eran Andrechek , Nanlin Li , Simone Detre , Mitchell Dowsett , Rinath M Jeselsohn , X Shirley Liu , Myles Brown	2018-07-31	-
29178422	Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model. Clin. Genet. F Gurbuz , S Desai , F Diao , D Turkkahraman , F Wranitz , M Wood-Trageser , Y-H Shin , L D Kotan , H Jiang , S Witchel , N Gurtunca , S Yatsenko , D Mysliwec , K Topaloglu , A Rajkovic	2018-04-01	-
29574468	Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome. Am J Case Rep Mohammad Almeqdadi , Jennifer L Kemppainen , Pavel N Pichurin , Ralitza H Gavrilova	2018-03-25	-
28514442	Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper	2017-05-25	-
26612766	Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. Clin. Genet. R H Ali , K Shah , A Nasir , W Steyaert , P J Coucke , W Ahmad	2016-09-01	-
26440089	Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome. J. Genet. Mansoor C Abdulla , Anas M Alazami , Jemshad Alungal , Jassim M Koya , Mohthash Musambil	2015-09-01	-
26186194	The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell Edward L Huttlin , Lily Ting , Raphael J Bruckner , Fana Gebreab , Melanie P Gygi , John Szpyt , Stanley Tam , Gabriela Zarraga , Greg Colby , Kurt Baltier , Rui Dong , Virginia Guarani , Laura Pontano Vaites , Alban Ordureau , Ramin Rad , Brian K Erickson , Martin WÃ¼hr , Joel Chick , Bo Zhai , Deepak Kolippakkam , Julian Mintseris , Robert A Obar , Tim Harris , Spyros Artavanis-Tsakonas , Mathew E Sowa , Pietro De Camilli , Joao A Paulo , J Wade Harper , Steven P Gygi	2015-07-16	-
24015686	Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene. Pediatr Dermatol Arti Nanda , Sandra M Pasternack , Hassnaa Mahmoudi , Nina Ishorst , Ramon Grimalt , Regina C Betz	2013-09-09	DCAF17
23418071	The syndrome of deafness-dystonia: clinical and genetic heterogeneity. Mov. Disord. Maja Kojovic , Isabel PareÃ©s , Tania Lampreia , Karolina Pienczk-Reclawowicz , Georgia Xiromerisiou , Ignacio Rubio-Agusti , Milica Kramberger , Miryam Carecchio , Anas M Alazami , Francesco Brancati , Jaroslaw Slawek , Zvezdan Pirtosek , Enza Maria Valente , Fowzan S Alkuraya , Mark J Edwards , Kailash P Bhatia	2013-06-01	TIMM8A, DCAF17

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