PNPLA1 - patatin like phospholipase domain containing 1-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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285848 PNPLA1

基因描述

Type	Description
Definition	patatin like phospholipase domain containing 1

研究结论

Date	Results	Publications
2021-03-27 14:43:00	Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.	31833240
2020-12-12 13:21:00	Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis.	31864761
2020-02-15 11:08:00	PNPLA1 c.417_418delinsTC mutation has founder effects in the Spanish patients with autosomal recessive congenital ichthyosis.	31120544
2019-08-31 13:35:00	PNPLA1 mutations caused disturbances in both autophagosome formation and fusion of autophagosomes with lysosomes. Results indicate a possible role for PNPLA1 protein in lipid droplets regulation via lipophagy-mediated degradation.	30655104
2019-08-31 12:04:00	Prospective observation of additional patients will allow to confirm that a cyclic scaling course is a distinctive manifestation in a subset of PNPLA1-associated autosomal recessive congenital ichthyosis	28983987

名称对应

Type	IDs
Synonymous	ARCI10, dJ50J22.1
Gene	UniProtKB-ID: PLPL1_HUMAN, B8XXQ3_HUMAN UniprotKB: Q8N8W4, B8XXQ3 UniParc: UPI000189560E, UPI0000E5AD58, UPI0000470C91 EMBL: BC103905, Z84484, BC103906, BC103907, FJ457781, AK096074, AM182887 Ensembl: ENSG00000180316 KO: hsa:285848
Nucleutide sequences	EMBL-CDS: AAI03906.1, AAI03907.1, AAI03908.1, CAJ58679.1, BAC04697.1, ACJ70710.1 Ensembl_TRS: ENST00000312917, ENST00000394571, ENST00000388715
Protein sequencees	Ensembl_PRO: ENSP00000373367, ENSP00000378072, ENSP00000321116 RefSeq: XP_016866266.1, XP_011512822.1, XP_016866268.1, XP_016866267.1, NP_001139189.2, NP_775947.2, NP_001361552.1, NP_001139188.1, XP_016866265.1
Others	UniRef100: UniRef100_Q8N8W4 UniRef90: UniRef90_Q8N8W4 UniRef50: UniRef50_Q8N8W4 UniGene: Hs.407002 CCDS: CCDS47416.1, CCDS54997.1, CCDS34438.1

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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
31833240	Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis. Mol Genet Genomic Med Liangshan Li , Wenmiao Liu , Yinglei Xu , Miaomiao Li , Qian Tang , Bo Yu , Renmei Cai , Shiguo Liu	2020-02-01	-
31864761	Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis. J Dermatol Sci Naoki Watanabe , Michihiro Kono , Mutsumi Suganuma , Kana Tanahashi , Masashi Akiyama	2020-01-01	-
31120544	Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect. Acta Derm. Venereol. Uxia EsperÃ³n-Moldes , Manuel Ginarte Val , Laura RodrÃguez-Pazos , Laura Fachal , JosÃ© Manuel AzaÃ±a , MarÃa BarberÃ¡ Fons , MÃ³nica Viejo Diaz , Ana Vega	2019-09-01	-
30655104	Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients. J. Dermatol. Sci. Gizem Onal , Ozlem Kutlu , Ebru Ozer , Devrim Gozuacik , Aysen Karaduman , Serap Dokmeci Emre	2019-01-01	-
30527376	Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed Ï-O-acylceramide production by ABHD5. J. Dermatol. Sci. Yusuke Ohno , Atsuki Nara , Shota Nakamichi , Akio Kihara	2018-12-01	-
29023646	Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects. Br. J. Dermatol. L Youssefian , A Touati , H Vahidnezhad , A H Saeidian , S Sotoudeh , S Zeinali , J Uitto	2018-03-01	-
28983987	Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis. J Eur Acad Dermatol Venereol A Diociaiuti , E Pisaneschi , G Zambruno , A Angioni , A Novelli , R Boldrini , M El Hachem	2018-03-01	-
28958709	[PNPLA1 mutations in autosomal recessive congenital ichtyosis]. Ann Dermatol Venereol O Dereure	2017-11-01	-
28093717	Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function. Br. J. Dermatol. A D Zimmer , G-J Kim , A Hotz , E Bourrat , I Hausser , C Has , V Oji , K Stieler , A Vahlquist , V Kunde , B Weber , F P W Radner , S Leclerc-Mercier , N Schlipf , P Demmer , J KÃ¼sel , J Fischer	2017-08-01	-
28403545	Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. Br. J. Dermatol. L M Boyden , B G Craiglow , R H Hu , J Zhou , J Browning , L Eichenfield , Y L Lim , M Luu , L M Randolph , M Ginarte , L Fachal , L Rodriguez-Pazos , A Vega , D Kramer , G Yosipovitch , H Vahidnezhad , L Youssefian , J Uitto , R P Lifton , A S Paller , L M Milstone , K A Choate	2017-07-01	-

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