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84816 RTN4IP1

84816

RTN4IP1

reticulon 4 interacting protein 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition reticulon 4 interacting protein 1

研究结论

Date Results Publications
2019-09-07 12:38:00 This study showed that large spectrum of neurologic features, ranging from isolated optic atrophy to severe early-onset encephalopathy, can be associated with biallelic mutations in RTN4IP1. 29181510
2016-02-27 11:43:00 Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. 26593267
2013-05-04 10:42:00 RTN4IP1 has a tumor-suppressive function and may regulate thyroid cancer progression. 23393170
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-06-30 22:04:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614

名称对应

Type IDs
Synonymous NIMP, OPA10
Gene
UniProtKB-ID: RT4I1_HUMAN
UniprotKB: Q8WWV3
UniParc: UPI00005B2E8D, UPI000002DFDB, UPI000020E01B
EMBL: AY063761, AK095207, AL390074, BC006399, AF439711
Ensembl: ENSG00000130347
KO: hsa:84816
Nucleutide sequences
EMBL-CDS: AAH06399.2, BAC04499.1, AAL40856.1, AAL34525.1
Ensembl_TRS: ENST00000369063
Protein sequencees
Ensembl_PRO: ENSP00000358059
RefSeq: NP_001305675.1, XP_016866865.1, XP_011534494.1, NP_116119.2
Others
UniRef100: UniRef100_Q8WWV3
UniRef90: UniRef90_Q8WWV3
UniRef50: UniRef50_Q8WWV3
UniGene: Hs.155839
CCDS: CCDS5056.1

全选

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研究热度

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