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23059 CLUAP1

23059

CLUAP1

clusterin associated protein 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition clusterin associated protein 1

研究结论

Date Results Publications
2017-11-18 12:25:00 Two variants in CLUAP1 were identified through exome-sequence analysis, Chr16:g.3558407T>G, c.338T>G, p.(Met113Arg) and Chr16:g.3570011C>T, c.688C>T, p.(Arg230Ter). he genetic data show that these variants are present in an affected child, are rare in the population, and result in reduced, but not absent, intraflagellar transport. 28679688
2017-09-16 13:07:00 Consistent with the knowledge that CLUAP1 plays an important role in cilia function and that cilia are critical to photoreceptor function, our results indicate that hypomorphic mutations in CLUAP1 can result in dysfunctional photoreceptors without systemic abnormalities. This is the first report linking mutations in CLUAP1 to human disease and establishes CLUAP1 as a candidate Leber congenital amaurosis gene 26820066
2010-01-21 00:00:00 inactivation of CLUAP1 may conceivably serve in the future as a novel therapeutic intervention for treatment of colon cancer 15480429
2010-01-21 00:00:00 CLUAP1 (clusterin-associated protein 1) is highly expressed in osteosarcoma, ovarian, colon, and lung cancers 17203229

名称对应

Type IDs
Synonymous CFAP22, FAP22, IFT38
Gene
UniProtKB-ID: CLUA1_HUMAN, J3KNW5_HUMAN
UniprotKB: Q96AJ1, J3KNW5
UniParc: UPI00001FF865, UPI0000071C3D, UPI0000D4D4FD
EMBL: BC017070, AC004494, AK023319, AK023359, AB089691, AB014543, AC004224
Ensembl: ENSG00000103351
KO: hsa:23059
Nucleutide sequences
EMBL-CDS: BAB14523.1, AAH17070.3, BAA31618.1, BAD44779.1, BAB14542.1
Ensembl_TRS: ENST00000576634, ENST00000572600, ENST00000341633
Protein sequencees
Ensembl_PRO: ENSP00000460889, ENSP00000460850, ENSP00000344392
RefSeq: NP_001317383.1, XP_006720930.1, NP_055856.1, XP_016878562.1, NP_079069.1
Others
UniRef100: UniRef100_J3KNW5, UniRef100_Q96AJ1
UniRef90: UniRef90_Q96AJ1
UniRef50: UniRef50_Q96AJ1
UniGene: Hs.155995
CCDS: CCDS32381.1, CCDS45398.1

全选

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