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23204 ARL6IP1

23204

ARL6IP1

ADP ribosylation factor like GTPase 6 interacting protein 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition ADP ribosylation factor like GTPase 6 interacting protein 1

研究结论

Date Results Publications
2019-12-07 10:08:00 Mutations in ARL6IP1, which encodes a tetraspan membrane protein localized to the endoplasmic reticulum (ER), have been recently described in a large family with a complicated form of hereditary spastic paraplegia (HSP). Phenotype associated with ARL6IP1 variants may be broader and more acute than so far reported and identifies fatal HSP as the severe end of the phenotypic spectrum of ARL6IP1 variants. 31272422
2014-01-11 10:49:00 ARL6ip1 is a three-spanning transmembrane protein with a conophylline binding pocket. 24076029
2011-02-12 10:07:00 Down-regulation of ARL6IP1 expression arrested CaSki cell cycling at the G0/G1 phase and mitigated CaSki cell migration, determined by wound healing assays. 20213509
2010-07-19 12:05:00 ARL6IP1 may play a key role in cisplatin-induced apoptosis in CaSki cervical cancer cells by regulating the expression of apoptosis-associated proteins. 20372863
2010-01-21 00:00:00 novel endoplasmic reticulum integral membrane protein which protects cells by inhibiting caspase-9 activity and reveal a possible role for ARMER in cell survival 12754298

名称对应

Type IDs
Synonymous AIP1, ARL6IP, ARMER, SPG61
Gene
UniProtKB-ID: AR6P1_HUMAN, A0A024QYV7_HUMAN
UniprotKB: Q15041, A0A024QYV7
UniParc: UPI00020650F1, UPI000191507F, UPI0000125D46
EMBL: CH471186, BC010281, AC138811, AK300869, D31885, AK301636
Ensembl: ENSG00000170540
KO: hsa:23204
Nucleutide sequences
EMBL-CDS: BAH13361.1, BAA06683.1, AAH10281.1, BAH13527.1, EAW50258.1, EAW50257.1
Gene_ORFName: hCG_1994130
Ensembl_TRS: ENST00000304414, ENST00000546206
Protein sequencees
Ensembl_PRO: ENSP00000306788, ENSP00000440048
RefSeq: NP_055976.1, NP_001300787.1
Others
UniRef100: UniRef100_Q15041
UniRef90: UniRef90_Q15041
UniRef50: UniRef50_Q15041
UniGene: Hs.634882
CCDS: CCDS10572.1, CCDS81951.1

全选

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