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84984 CEP19

84984

CEP19

centrosomal protein 19

protein-coding

Homo sapiens

基因描述

Type Description
Definition centrosomal protein 19

研究结论

Date Results Publications
2019-09-21 11:25:00 CEP19 encodes a centrosomal and ciliary protein, as all BBS genes do. Another truncating mutation p.Arg82* has been reported as responsible for morbid obesity in a family; however, in the family we present, not all homozygotes are obese, although some are severely obese. 29127258
2017-11-04 12:27:00 RABL2 binds to CEP19 and the IFT74-IFT81 heterodimer in a mutually exclusive manner. 28428259
2017-09-30 11:52:00 CEP19 is recruited to the ciliary base by the centriolar CEP350/FOP complex and then specifically captures GTP-bound RABL2B, which is activated via its intrinsic nucleotide exchange. 28625565
2014-02-15 12:34:00 loss of the ciliary protein CEP19 in humans and mice causes morbid obesity. 24268657

名称对应

Type IDs
Synonymous C3orf34, MOSPGF
Gene
UniProtKB-ID: CEP19_HUMAN
UniprotKB: Q96LK0
UniParc: UPI000006F2BA
EMBL: AY099509, AK058155, AK314070, AC055725, BC007827
Ensembl: ENSG00000174007
KO: hsa:84984
Nucleutide sequences
EMBL-CDS: AAH07827.1, BAG36771.1, BAB71691.1, AAM47487.1
Gene_ORFName: HSD5
Ensembl_TRS: ENST00000409690
Protein sequencees
Ensembl_PRO: ENSP00000387209
RefSeq: NP_001366399.1, NP_001366398.1, NP_116287.3, NP_001366397.1
Others
UniRef100: UniRef100_Q96LK0
UniRef90: UniRef90_Q96LK0
UniRef50: UniRef50_Q96LK0
UniGene: Hs.282800
CCDS: CCDS43193.2

全选

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