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54872 PIGG

54872

PIGG

phosphatidylinositol glycan anchor biosynthesis class G

protein-coding

Homo sapiens

基因描述

Type Description
Definition phosphatidylinositol glycan anchor biosynthesis class G

研究结论

Date Results Publications
2020-04-18 11:43:00 Arg658Gln mutation segregates with nonsyndromic intellectual disability in Iranian family. 31414351
2018-05-12 11:56:00 Based on genetic and functional evidence, we confirm that pathogenic variants in PIGG cause an intellectual disability syndrome, and we find that loss of function of PIGG is associated with Glycosylphosphatidylinositol deficiency 28581210
2016-09-03 10:16:00 loss-of-function variants in PIGG associated with intellectual disability and hypotonia 26996948
2010-04-07 21:40:00 Observational study of gene-disease association. (HuGE Navigator) 20198315
2010-04-07 21:40:00 Observational study of gene-disease association. (HuGE Navigator) 19724895

名称对应

Type IDs
Synonymous GPI7, LAS21, MRT53, PRO4405, RLGS1930
Gene
UniProtKB-ID: PIGG_HUMAN, Q8NCI4_HUMAN, E7EWV1_HUMAN, D6RFE8_HUMAN
UniprotKB: Q5H8A4, Q8NCI4, E7EWV1, D6RFE8
UniParc: UPI00004C7A82, UPI0000DAC9B4, UPI0000DAC9B3, UPI0001D3B0B7, UPI0000072C2B, UPI0000070148, UPI000013EFF1, UPI0001638AC3, UPI00017A761A
EMBL: BC000937, AB162713, AK097244, AC092574, AC116565, AK074715, BC001249, AK296507, AY358538, BC110878, AK074815, AK000272, AK027465
Ensembl: ENSG00000174227
KO: hsa:54872
Nucleutide sequences
EMBL-CDS: AAH01249.2, BAC04984.1, AAI10879.1, AAH00937.2, BAA91046.1, BAC11227.1, BAD89023.1, BAG59139.1, AAQ88902.1, BAB55130.1, BAC11157.1
Gene_ORFName: UNQ1930/PRO4405
Ensembl_TRS: ENST00000310340, ENST00000453061, ENST00000503111, ENST00000383028, ENST00000504346, ENST00000509768
Protein sequencees
Ensembl_PRO: ENSP00000426002, ENSP00000311750, ENSP00000415203, ENSP00000372494, ENSP00000424800, ENSP00000421550
RefSeq: NP_001332916.1, XP_011511794.1, NP_001332918.1, NP_001332920.1, NP_001332917.1, NP_001120650.1, XP_011511793.1, NP_060203.3, NP_001275980.1, NP_001332923.1, XP_011511796.1, NP_001332915.1, NP_001332919.1, NP_001275982.1, NP_001275981.1, NP_001275984.1, NP_001275986.1, XP_011511792.1
Others
UniRef100: UniRef100_Q8NCI4, UniRef100_Q5H8A4, UniRef100_D6RFE8
UniRef90: UniRef90_Q5H8A4, UniRef90_D6RFE8
UniRef50: UniRef50_D6RFE8, UniRef50_Q5H8A4
UniGene: Hs.7099
CCDS: CCDS46992.1, CCDS75083.1, CCDS3336.1, CCDS75080.1

全选

研究热度
发表文献
研究结论
热点单位
排名 科研单位 文献
1

Research Institute for Microbial Diseases

3
2

Institute of Virology

2
3

Helix Research Institute

2
4

Department of Cardiovascular Medicine, Inabe General Hospital, Inabe, Japan.

2
5

Biogen Inc., 250 Binney Street, Cambridge, Massachusetts 02142, USA.

1
热点人员
排名 研究人员 文献
1

Sumio Sugano

4
2

Yutaka Suzuki

4
3

Ai Wakamatsu

3
4

Toshio Ota

3
5

Jun-ichi Yamamoto

3
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