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200894 ARL13B

200894

ARL13B

ADP ribosylation factor like GTPase 13B

protein-coding

Homo sapiens

基因描述

Type Description
Definition ADP ribosylation factor like GTPase 13B

研究结论

Date Results Publications
2020-07-11 12:39:00 RAB family small GTP binding protein RAB 23 (Rab23) and ADP-ribosylation factor-like 13B (Arl13b) have been implicated in ciliopathy-associated human diseases and could regulate hedgehog proteins (Hh) signalling cascade in multifaceted manners [Review]. 31465935
2019-12-07 10:08:00 Authors propose a so far unknown function of ARL13B in anchoring ciliary membrane proteins to the axoneme through the direct interaction of its G-domain with tubulin. 29592971
2019-10-12 11:30:00 Formation of primary cilia is downregulated in TULP3-knockout (KO) RPE1 cells. ARL13B and INPP5E fail to localize to primary cilia in TULP3-KO cells. 30583862
2018-12-22 10:28:00 Joubert syndrome protein ARL13B controls axoneme polyglutamylation. 30120249
2018-07-28 11:11:00 A novel homozygous loss of function mutation in ARL13B was identified in patients with Joubert syndrome 29255182

名称对应

Type IDs
Synonymous ARL2L1, JBTS8
Gene
UniProtKB-ID: AR13B_HUMAN
UniprotKB: Q3SXY8
UniParc: UPI00001B94DF, UPI00001B94E0, UPI0000D471C6
EMBL: AL713789, AC130896, BC094725, AC117474, CH471052, BC104036, BC104035
Ensembl: ENSG00000169379
KO: hsa:200894
Nucleutide sequences
EMBL-CDS: AAI04037.1, AAI04036.1, EAW79897.1, EAW79898.1, CAD28544.2, EAW79901.1, AAH94725.1
Ensembl_TRS: ENST00000394222, ENST00000303097, ENST00000535334, ENST00000471138
Protein sequencees
Ensembl_PRO: ENSP00000377769, ENSP00000445145, ENSP00000420780, ENSP00000306225
RefSeq: XP_011510836.1, XP_011510837.1, NP_659433.2, NP_878899.1, NP_001167622.1, XP_006713595.1, NP_001167621.1, XP_011510835.1, XP_011510834.1, XP_016861342.1, NP_001308257.1
Others
UniRef100: UniRef100_Q3SXY8
UniRef90: UniRef90_Q3SXY8
UniRef50: UniRef50_Q3SXY8
UniGene: Hs.533086
CCDS: CCDS54615.1, CCDS2925.1, CCDS2924.1

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