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5191 PEX7

5191

PEX7

peroxisomal biogenesis factor 7

protein-coding

Homo sapiens

基因描述

Type Description
Definition peroxisomal biogenesis factor 7

研究结论

Date Results Publications
2019-01-12 12:11:00 Data suggest that P7BP2 is localized to peroxisomes by binding to PEX5 via PEX7 in manner dependent on apparent PTS2 (type 2 peroxisomal targeting signal peptide) in N-terminal region of P7BP2; the PTS2 is subsequently cleaved off in peroxisomes. (P7BP2 = PEX7-binding protein-2; PEX5 = peroxisomal biogenesis factor-5; PEX7 = peroxisomal biogenesis factor-7) 30204880
2017-06-24 10:55:00 This revealed a marked plasmalogen deficiency and a deficient fatty acid alpha-oxidation in the IHH cells, due to a defect of PEX7, a cytosolic receptor protein required for peroxisomal import of a subset of peroxisomal proteins. 28013369
2016-08-06 11:47:00 our data suggest that insertion of the trimeric PEX5-PEX7-PTS2 protein complex into the DTM is probably accompanied by conformational alterations in PEX5 to allow release of the PTS2 protein into the organelle matrix 26138649
2016-03-26 10:43:00 Mutation in the PEX7 Gene is associated with Rhizomelic Chondrodysplasia Punctata Type 1. 25800479
2015-05-09 12:38:00 the sequential formation of a highly stable trimeric complex involving cargo protein, PEX7 and PEX5L stabilizes cargo binding and is a prerequisite for PTS2-mediated peroxisomal import. 25538232

名称对应

Type IDs
Synonymous PBD9B, PTS2R, RCDP1, RD
Gene
UniProtKB-ID: PEX7_HUMAN, Q6FGN1_HUMAN
UniprotKB: O00628, Q6FGN1
UniParc: UPI0000073043, UPI00001316F3
EMBL: CH471051, AF180806, BC006268, AF180807, U76560, CR542054, BC031606, AF180812, AF180810, AF180813, AF180808, AF180811, AL365223, AF180814, AF180809, AL121933, CR542076, U88871, AL357082
Ensembl: ENSG00000112357
KO: hsa:5191
Nucleutide sequences
EMBL-CDS: AAH31606.1, AAB50556.1, AAF37350.1, EAW47941.1, AAC51238.1, AAH06268.1, EAW47940.1, CAG46851.1, CAG46873.1
Gene_ORFName: hCG_1640802
Ensembl_TRS: ENST00000318471, ENST00000541292
Protein sequencees
Ensembl_PRO: ENSP00000315680, ENSP00000441004
RefSeq: XP_006715565.1, XP_005267076.1, XP_016866423.1, NP_000279.1
Others
UniRef100: UniRef100_O00628
UniRef90: UniRef90_O00628
UniRef50: UniRef50_O00628
UniGene: Hs.280932
CCDS: CCDS5180.1

全选

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