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57560 IFT80

57560

IFT80

intraflagellar transport 80

protein-coding

Homo sapiens

基因描述

Type Description
Definition intraflagellar transport 80

研究结论

Date Results Publications
2020-04-25 12:34:00 Mutations in IFT80 cause Short rib-polydactyly syndrome, Beemer type. 30767363
2019-02-23 11:26:00 IFT80 plays an important role in invasion of gastric cancer. 30453504
2011-06-04 11:23:00 Mutations in IFT80 can be responsible for a lethal form of short-rib polydactyly and provide the molecular basis for the Jeune-Verma-Naumoff dysplasia spectrum. 19648123
2010-01-21 00:00:00 Mutations in IFT80 is associated with Jeune asphyxiating thoracic dystrophy 17468754
2010-01-21 00:00:00 Identification and characterization of a human IFT80 long isoform (namely IFT80-L), the carboxyl terminus of which shares the protein sequence of IFT80, is reported. 18601909

名称对应

Type IDs
Synonymous ATD2, SRTD2, WDR56
Gene
UniProtKB-ID: IFT80_HUMAN
UniprotKB: Q9P2H3
UniParc: UPI0005C43606, UPI000036FC44, UPI0000160F16
EMBL: AB037795, AL133045, BC042027, BC113669, BC030774, BC101494, AC024221, AC079594, CH471052, AK303410
Ensembl: ENSG00000068885
KO: hsa:57560
Nucleutide sequences
EMBL-CDS: EAW78645.1, BAG64463.1, CAB61372.1, AAH42027.1, EAW78648.1, AAI01495.1, AAI13670.1, EAW78643.1, BAA92612.1, EAW78644.1, EAW78646.1
Ensembl_TRS: ENST00000496589, ENST00000483465, ENST00000326448
Protein sequencees
Ensembl_PRO: ENSP00000312778, ENSP00000418196, ENSP00000420646
RefSeq: NP_001177170.1, NP_065851.1, NP_001177171.1
Others
UniRef100: UniRef100_Q9P2H3
UniRef90: UniRef90_Q9P2H3
UniRef50: UniRef50_Q8K057
UniGene: Hs.478095
CCDS: CCDS54668.1, CCDS3188.1

全选

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