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3617 IMPG1

3617

IMPG1

interphotoreceptor matrix proteoglycan 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition interphotoreceptor matrix proteoglycan 1

研究结论

Date Results Publications
2019-05-25 10:16:00 Extracellular matrix component expression in human pluripotent stem cell-derived retinal organoids recapitulates retinogenesis in vivo and reveals an important role for IMPG1 and CD44 in the development of photoreceptors and interphotoreceptor matrix. 29777959
2015-01-31 11:07:00 IMPG1 and IMPG2 are new causal genes of vitelliform dystrophy, involved in 8% of our families. 25085631
2013-11-16 11:20:00 IMPG1 mutations cause both autosomal-dominant and -recessive forms of vitelliform macular dystrophies. 23993198
2010-06-30 22:07:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614
2010-04-07 21:40:00 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) 20201926

名称对应

Type IDs
Synonymous GP147, IPM150, SPACR, VMD4
Gene
UniProtKB-ID: IMPG1_HUMAN, A0A087WYL3_HUMAN
UniprotKB: Q17R60, A0A087WYL3
UniParc: UPI000041A164, UPI0000073F12, UPI000020D23B
EMBL: AF017776, AF017770, AF017773, AL356962, AF017763, AF047492, AL392166, AF017774, AF017761, AF017766, CH471051, AF017769, AF017764, BC117450, AF017772, AF017768, BC117452, AF017771, CR749572, AF017760, AF017762, AF017767, AF017765, AF017775
Ensembl: ENSG00000112706
KO: hsa:3617
Nucleutide sequences
EMBL-CDS: AAC68835.1, AAC03789.2, AAI17451.1, EAW48726.1, CAH18367.1, AAI17453.1
Ensembl_TRS: ENST00000369950, ENST00000611179
Protein sequencees
Ensembl_PRO: ENSP00000358966, ENSP00000481913
RefSeq: NP_001269297.1, NP_001554.2
Others
UniRef100: UniRef100_A0A087WYL3, UniRef100_Q17R60
UniRef90: UniRef90_Q17R60
UniRef50: UniRef50_Q17R60
UniGene: Hs.590893
CCDS: CCDS4985.1

全选

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