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28981 IFT81

28981

IFT81

intraflagellar transport 81

protein-coding

Homo sapiens

基因描述

Type Description
Definition intraflagellar transport 81

研究结论

Date Results Publications
2019-08-17 11:05:00 Our data highlights the importance of detection and careful characterization of intragenic duplication CNVs, presenting them as a novel and very rare genetic mechanism in IFT81-related Jeune syndrome and MATN3-related MED. 30080953
2017-07-22 10:23:00 This represents the first report of mutations in IFT81 as a candidate gene for nonsyndromic retinal dystrophy, hence expanding the phenotype spectrum of IFT-B components. 28460050
2013-09-14 10:59:00 this study found that the two core intraflagellar transport proteins IFT74 and IFT81 form a tubulin-binding module and mapped the interaction to a calponin homology domain of IFT81 and a highly basic domain in IFT74. 23990561
2010-01-21 00:00:00 inconsistent expression levels of human CDV-1 and mouse Cdv-1 in heart implied that cardiac hypertrophy in human SCD might not be associated with the abnormal expression of CDV-1 12549821

名称对应

Type IDs
Synonymous CDV-1, CDV-1R, CDV1, CDV1R, DV1, SRTD19
Gene
UniProtKB-ID: IFT81_HUMAN, A0A024RBJ1_HUMAN
UniprotKB: Q8WYA0, A0A024RBJ1
UniParc: UPI000000D78F, UPI00001BBFA3, UPI0000070E67
EMBL: BC108257, AF139540, BC004536, BC029349, AF078932, AF250326, CH471054, AF332010, AK091549
Ensembl: ENSG00000122970
KO: hsa:28981
Nucleutide sequences
EMBL-CDS: AAI08258.1, AAL50343.1, EAW97898.1, AAH29349.1, AAD48091.1, BAC03690.1, AAP97269.1, AAH04536.2, AAO32947.1, EAW97899.1, EAW97901.1
Gene_ORFName: hCG_1811953
Ensembl_TRS: ENST00000361948, ENST00000552912, ENST00000242591
Protein sequencees
Ensembl_PRO: ENSP00000449718, ENSP00000242591, ENSP00000355372
RefSeq: NP_113661.2, NP_001334875.1, NP_001334876.1, XP_016874706.1, NP_001137251.1, NP_001334877.1, NP_054774.2
Others
UniRef100: UniRef100_Q8WYA0
UniRef90: UniRef90_Q8WYA0
UniRef50: UniRef50_Q8WYA0
UniGene: Hs.528382
CCDS: CCDS9142.1, CCDS41831.1

全选

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