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23322 RPGRIP1L

23322

RPGRIP1L

RPGRIP1 like

protein-coding

Homo sapiens

基因描述

Type Description
Definition RPGRIP1 like

研究结论

Date Results Publications
2019-05-11 12:59:00 it might be reasonable to consider RPGRIP1L as an important gene whose variations could be associated with obesity risk factors. 30597647
2019-03-30 13:11:00 T allele in RPGRIP1L gene might increase the risk of vitiligo in a Chinese Han population. 30539925
2019-03-16 12:16:00 Biotinylation assays on cell surface proteins not only reinforced the role of RPGRIP1L in desmoglein endocytosis, but also suggested that RPGRIP1L may be more broadly involved in endocytosis. Thus, data obtained from this study advanced our understanding of the biological functions of RPGRIP1L by identifying its role in the cellular endocytic pathway. 30689641
2019-02-02 11:45:00 Loss of Rpgrip1l expression is associated with Ciliopathy. 29650680
2018-11-17 12:33:00 we didn't found the significant association between RPGRIP1L and BMI in Chinese women 29657248

名称对应

Type IDs
Synonymous CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134
Gene
UniProtKB-ID: FTM_HUMAN, I3L1B5_HUMAN, B7ZKJ9_HUMAN, H3BPS4_HUMAN, H3BV03_HUMAN, A0A087WX34_HUMAN
UniprotKB: Q68CZ1, I3L1B5, B7ZKJ9, H3BPS4, H3BV03, A0A087WX34
UniParc: UPI00001FF1B8, UPI00004DD7F3, UPI000013F73D, UPI00001C1FAA, UPI00001FF1BB, UPI000047DAF2, UPI000189A775
EMBL: BC017977, BC136433, AC007497, CR749645, AC084795, AC007909, AB023222
Ensembl: ENSG00000103494
KO: hsa:23322
Nucleutide sequences
EMBL-CDS: CAH18439.1, AAH17977.1, BAA76849.1, AAI36434.1
Ensembl_TRS: ENST00000262135, ENST00000647211, ENST00000566096, ENST00000568653, ENST00000563746, ENST00000621565
Protein sequencees
Ensembl_PRO: ENSP00000262135, ENSP00000493946, ENSP00000458705, ENSP00000455451, ENSP00000457889, ENSP00000480698
RefSeq: NP_001315352.1, XP_011521273.1, XP_016878587.1, XP_016878583.1, XP_016878585.1, XP_011521272.1, XP_011521275.1, NP_001295263.1, NP_001315351.1, XP_005255925.1, XP_016878586.1, NP_001121369.1, XP_016878589.1, NP_001317467.1, XP_016878584.1, NP_056087.2, XP_016878588.1
Others
UniRef100: UniRef100_H3BPS4, UniRef100_H3BV03, UniRef100_B7ZKJ9, UniRef100_A0A087WX34, UniRef100_Q68CZ1, UniRef100_I3L1B5
UniRef90: UniRef90_Q68CZ1, UniRef90_A0A3Q0EC29, UniRef90_A0A2K6U3U5
UniRef50: UniRef50_Q68CZ1, UniRef50_A0A5F4D151, UniRef50_A0A3Q0EC29
UniGene: Hs.298382
CCDS: CCDS45486.1, CCDS32447.1

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