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3857 KRT9

3857

KRT9

keratin 9

protein-coding

Homo sapiens

基因描述

Type Description
Definition keratin 9

研究结论

Date Results Publications
2020-07-04 12:54:00 KRT9 L164P mutation is associated with epidermolytic palmoplantar keratoderma. 31525823
2019-11-02 10:58:00 Exogenous dsRNA inhibits KRT9 expression in early passage volar keratinocytes or in vivo footpads of wild-type mice. Loss of DDX58 in passaged volar keratinocytes rescues KRT9 and inhibits KRT7 expression. 30120933
2019-08-31 11:16:00 Study identified a novel L164P mutation responsible for epidermolytic palmoplantar keratoderma (EPPK) in a large Chinese family and three recurrent mutations in another three Chinese families with EPPK. All these mutations are located in the highly conserved 1A rod domain of keratin 9. 29044727
2019-05-25 11:44:00 keratin 9 is an Hsp70 client protein and is expressed in human bladder cancer cells. 29802537
2018-08-04 11:17:00 A novel heterozygous c.1369C>T transition (p.Leu457Phe) in exon 6 of the KRT9 gene was identified in four patients in a Chinese Family with Epidermolytic Palmoplantar Keratoderma. 29719290

名称对应

Type IDs
Synonymous CK-9, EPPK, K9
Gene
UniProtKB-ID: K1C9_HUMAN
UniprotKB: P35527
UniParc: UPI00001AE6F7
EMBL: AB001594, S69510, X75015, AC019349, Z29074, BC121170
Ensembl: ENSG00000171403
KO: hsa:3857
Nucleutide sequences
EMBL-CDS: AAC60619.1, BAA19418.1, AAI21171.1, CAA52924.1, CAA82315.1
Ensembl_TRS: ENST00000246662
Protein sequencees
Ensembl_PRO: ENSP00000246662
RefSeq: NP_000217.2
Others
UniRef100: UniRef100_P35527
UniRef90: UniRef90_P35527
UniRef50: UniRef50_P35527
UniGene: Hs.654569
CCDS: CCDS32654.1

全选

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