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8867 SYNJ1

8867

SYNJ1

synaptojanin 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition synaptojanin 1

研究结论

Date Results Publications
2021-04-03 13:34:00 A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations. 33349335
2021-01-23 12:58:00 TGFbeta receptor endocytosis and Smad signaling require synaptojanin1, PI3K-C2alpha-, and INPP4B-mediated phosphoinositide conversions. 31913757
2020-09-05 13:53:00 A novel homozygous SYNJ1 mutation in two siblings with typical Parkinson's disease. 31751865
2019-11-02 13:25:00 SYNJ1 contributes to memory deficits in the aging hippocampus in all forms of Alzheimer's disease. 29874583
2019-11-02 10:53:00 Data indicate that Synj1 plays a crucial role in regulating the homeostasis and functions of early endosomal compartments in different cell types, and highlight defective cellular pathways in PARK20. In addition, they strengthen the link between endosomal trafficking and Parkinson's disease. 29515184

名称对应

Type IDs
Synonymous EIEE53, INPP5G, PARK20
Gene
UniProtKB-ID: SYNJ1_HUMAN, B9EGN3_HUMAN, Q05CZ1_HUMAN, J3KQV8_HUMAN, A0A0D9SGJ6_HUMAN, C9JFZ1_HUMAN
UniprotKB: O43426, B9EGN3, Q05CZ1, J3KQV8, A0A0D9SGJ6, C9JFZ1
UniParc: UPI000034ECCC, UPI0000D4980F, UPI000066D9B0, UPI000192C421, UPI000198C848, UPI000054E49E, UPI0000206D91, UPI0001A47572, UPI0001A47574
EMBL: AP000279, BC136603, AF009039, AP000278, AP000277, BC098395, BC019630, KC877861, AF009040, AP000275, AP000276, KF510544, AB020717
Ensembl: ENSG00000159082
KO: hsa:8867
Nucleutide sequences
EMBL-CDS: AAC51921.1, AAH98395.1, AAC51922.1, BAA74933.2, AAI36604.1, AAH19630.1
Ensembl_TRS: ENST00000674204, ENST00000674351, ENST00000357345, ENST00000674308, ENST00000433931, ENST00000630077, ENST00000382499
Protein sequencees
Ensembl_PRO: ENSP00000501504, ENSP00000349903, ENSP00000501530, ENSP00000501426, ENSP00000409667, ENSP00000487560, ENSP00000371939
RefSeq: XP_016883990.1, XP_016883984.1, XP_016883994.1, XP_016883988.1, XP_016883985.1, XP_016883991.1, XP_016883993.1, XP_016883987.1, XP_016883989.1, NP_982271.3, XP_016883992.1, NP_003886.3, XP_016883986.1, XP_016883983.1, NP_001153774.1, NP_001153778.1
Others
UniRef100: UniRef100_O43426, UniRef100_Q05CZ1, UniRef100_C9JFZ1, UniRef100_B9EGN3, UniRef100_A0A0D9SGJ6
UniRef90: UniRef90_O43426-5, UniRef90_B9EGN3, UniRef90_G1Q6W5, UniRef90_O43426
UniRef50: UniRef50_G1QF26, UniRef50_Q62910, UniRef50_E9QHF3
UniGene: Hs.473632
CCDS: CCDS33540.2, CCDS54483.1

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