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84100 ARL6

84100

ARL6

ADP ribosylation factor like GTPase 6

protein-coding

Homo sapiens

基因描述

Type Description
Definition ADP ribosylation factor like GTPase 6

研究结论

Date Results Publications
2018-09-29 10:33:00 In the 64 BBS patients (44 males, 20 females) were studied, mutations were predominant in BBS10 and ARL6 genes; the c.272T>C; p.(I91T) mutation in ARL6 gene was a recurrent mutation 29806606
2017-07-29 11:24:00 Mutations of the ARL6 gene cause Bardet-Biedl syndrome, a heterogeneous disorder that increases the risk of Hypertension and Diabetes mellitus. 27271309
2015-11-28 10:21:00 Elevated levels of serum ARL6 were able to discriminate between excessive alcohol users and controls. 25704570
2015-06-06 14:34:00 Results show that BBS1 and BBS3 regulates the ciliary traficking of PC1. 24939912
2015-02-21 12:39:00 The BBSome is a coat-like ciliary trafficking complex composed of proteins mutated in Bardet-Biedl syndrome. ARL6 E108A mutation prevents BBSome recruitment to cilia. 25402481

名称对应

Type IDs
Synonymous BBS3, RP55
Gene
UniProtKB-ID: ARL6_HUMAN
UniprotKB: Q9H0F7
UniParc: UPI0000491566, UPI0000037CC9
EMBL: AC110491, AK292958, BC024239, CH471052, AL136815
Ensembl: ENSG00000113966
KO: hsa:84100
Nucleutide sequences
EMBL-CDS: EAW79884.1, EAW79882.1, BAF85647.1, EAW79881.1, AAH24239.1, EAW79883.1, CAB66749.1, EAW79880.1
Ensembl_TRS: ENST00000394206, ENST00000463745, ENST00000335979, ENST00000493990
Protein sequencees
Ensembl_PRO: ENSP00000418057, ENSP00000419619, ENSP00000337722, ENSP00000377756
RefSeq: XP_016862801.1, NP_115522.1, NP_001310442.1, NP_001265222.1, NP_001310443.1, NP_816931.1, XP_016862800.1
Others
UniRef100: UniRef100_Q9H0F7
UniRef90: UniRef90_Q9H0F7
UniRef50: UniRef50_Q9H0F7
UniGene: Hs.373801
CCDS: CCDS2928.1

全选

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