PIGN - phosphatidylinositol glycan anchor biosynthesis class N-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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23556 PIGN

基因描述

Type	Description
Definition	phosphatidylinositol glycan anchor biosynthesis class N

研究结论

Date	Results	Publications
2018-12-22 10:25:00	Loss of function PIGN alleles causes Fryns syndrome. Founder effect for PIGN intragenic deletion is observed in La Reunion and other Indian Ocean islands.	29330547
2018-03-10 12:19:00	PIGN is a novel biomarker of CIN and leukemic transformation/progression in a subgroup of patients with MDS or AML-MRC.	28187452
2017-12-16 10:39:00	Study reports compound heterozygous mutations in PIGN in two siblings with Fryns syndrome, and a homozygous mutation in an unrelated affected individual. However, two further individuals with Fryns syndrome did not carry mutations in this gene, suggesting genetic heterogeneity in this syndrome.	27038415
2017-09-16 11:04:00	Disease associated mutation L311W reduces enzymatic activity rather than affecting protein levels.	28327575
2017-08-05 11:38:00	PIGN-1/PIGN is required for quality control in Caenorhabditis elegans and in mammalian cells.	27980068

名称对应

Type	IDs
Synonymous	MCAHS, MCAHS1, MCD4, MDC4, PIG-N
Gene	UniProtKB-ID: PIGN_HUMAN, A0A1W2PPR7_HUMAN, A0A1W2PQA9_HUMAN, A0A024R2C3_HUMAN UniprotKB: O95427, A0A1W2PPR7, A0A1W2PQA9, A0A024R2C3 UniParc: UPI0005D00AD5, UPI0000070A47, UPI0007DC60C8 EMBL: AL137607, BC028363, CH471096, AC105183, AF109219, FP340563, AC090396, AC090354, KF456430 Ensembl: ENSG00000197563 KO: hsa:23556
Nucleutide sequences	EMBL-CDS: AAD11432.1, AAH28363.1, CAB70839.1, EAW63118.1, EAW63119.1, EAW63117.1, EAW63116.1 Gene_ORFName: hCG_34285 Ensembl_TRS: ENST00000357637, ENST00000638936, ENST00000640145, ENST00000640876, ENST00000400334, ENST00000640252, ENST00000640050, ENST00000638167, ENST00000639902, ENST00000640540
Protein sequencees	Ensembl_PRO: ENSP00000383188, ENSP00000491628, ENSP00000492592, ENSP00000492051, ENSP00000491525, ENSP00000350263, ENSP00000492233, ENSP00000491549, ENSP00000491620, ENSP00000490965 RefSeq: NP_036459.1, XP_011524193.1, XP_011524200.1, XP_016881174.1, NP_789744.1, XP_016881175.1, XP_011524195.1, XP_011524192.1, XP_011524196.1, XP_011524198.1, XP_011524197.1, XP_011524194.1, XP_011524191.1
Others	UniRef100: UniRef100_O95427, UniRef100_A0A1W2PQA9, UniRef100_A0A1W2PPR7 UniRef90: UniRef90_O95427, UniRef90_A0A1W2PQA9 UniRef50: UniRef50_O95427 UniGene: Hs.157031 CCDS: CCDS45879.1

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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
29330547	Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La RÃ©union Island, in patients with Fryns syndrome. Eur J Hum Genet Jean-Luc Alessandri , Christopher T Gordon , Marie-Line Jacquemont , Nicolas Gruchy , Norbert F Ajeawung , Guillaume Benoist , Myriam Oufadem , Asma Chebil , Yannis Duffourd , Coralie Dumont , Marion GÃ©rard , Paul Kuentz , Thibaud Jouan , Francesca Filippini , Thi Tuyet Mai Nguyen , Olivier Alibeu , Christine Bole-Feysot , Patrick NitschkÃ© , Asma Omarjee , Duksha Ramful , Hanitra Randrianaivo , BÃ©rÃ©nice Doray , Laurence Faivre , Jeanne Amiel , Philippe M Campeau , Julien Thevenon	2018-03-01	-
28327575	Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. Eur J Hum Genet Alistair T Pagnamenta , Yoshiko Murakami , John M Taylor , Consuelo Anzilotti , Malcolm F Howard , Venessa Miller , Diana S Johnson , Shereen Tadros , Sahar Mansour , I Karen Temple , Rachel Firth , Elisabeth Rosser , Rachel E Harrison , Bronwen Kerr , Niko Popitsch , DDD Study , Taroh Kinoshita , Jenny C Taylor , Usha Kini	2017-06-01	-
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	-
28187452	PIGN gene expression aberration is associated with genomic instability and leukemic progression in acute myeloid leukemia with myelodysplastic features. Oncotarget Emmanuel K Teye , Abigail Sido , Ping Xin , Niklas K Finnberg , Prashanth Gokare , Yuka I Kawasawa , Anna C Salzberg , Sara Shimko , Michael Bayerl , W Christopher Ehmann , David F Claxton , Witold B Rybka , Joseph J Drabick , Hong-Gang Wang , Thomas Abraham , Wafik S El-Deiry , Robert A Brodsky , Raymond J Hohl , Jeffrey J Pu	2017-05-02	-
27980068	PIGN prevents protein aggregation in the endoplasmic reticulum independently of its function in the GPI synthesis. J Cell Sci Shinji Ihara , Sohei Nakayama , Yoshiko Murakami , Emiko Suzuki , Masayo Asakawa , Taroh Kinoshita , Hitoshi Sawa	2017-02-01	-
27038415	Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. Hum Mutat Aideen M McInerney-Leo , Jessica E Harris , Michael Gattas , Elizabeth E Peach , Stephen Sinnott , Tracy Dudding-Byth , Sulekha Rajagopalan , Christopher P Barnett , Lisa K Anderson , Lawrie Wheeler , Matthew A Brown , Paul J Leo , Carol Wicking , Emma L Duncan	2016-07-01	-
26394714	Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. Am J Med Genet A Leah Fleming , Monica Lemmon , Natalie Beck , Maria Johnson , Weiyi Mu , David Murdock , Joann Bodurtha , Julie Hoover-Fong , Ronald Cohn , Thangamadhan Bosemani , Kristin BaraÃ±ano , Ada Hamosh	2016-01-01	-
26364997	A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family. Am J Med Genet A Morad Khayat , Joseph Mark Tilghman , Ilana Chervinsky , Lucia Zalman , Aravinda Chakravarti , Stavit A Shalev	2016-01-01	-
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	-
24253414	PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. Neurogenetics Chihiro Ohba , Nobuhiko Okamoto , Yoshiko Murakami , Yasuhiro Suzuki , Yoshinori Tsurusaki , Mitsuko Nakashima , Noriko Miyake , Fumiaki Tanaka , Taroh Kinoshita , Naomichi Matsumoto , Hirotomo Saitsu	2014-05-01	-

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