例如:"NBL1", "4681", "drought"
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139212 PIH1D3

139212

PIH1D3

PIH1 domain containing 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition PIH1 domain containing 3

研究结论

Date Results Publications
2021-01-16 15:58:00 Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia. 32170493
2020-11-21 13:35:00 [Analysis of PIH1D3 variant in a Chinese pedigree affected with primary ciliary dyskinesia]. 32820521
2018-11-17 10:12:00 Study propose that PIH1D3 is part of a complementary conserved R2TP-like HSP90 co-chaperone complex, the loss of which affects assembly of a subset of inner arm dyneins. 28176794
2017-05-27 11:27:00 Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects 28041644

名称对应

Type IDs
Synonymous CILD36, CXorf41, DNAAF6, NYSAR97, TWISTER
Gene
UniProtKB-ID: DAAF6_HUMAN
UniprotKB: Q9NQM4
UniParc: UPI0000073CF5
EMBL: CH471120, AY211928, BC033510, AL136112
Ensembl: ENSG00000080572
KO: hsa:139212
Nucleutide sequences
EMBL-CDS: EAX02717.1, AAH33510.1, EAX02716.1, AAO65181.1
Ensembl_TRS: ENST00000372453, ENST00000336387, ENST00000535523
Protein sequencees
Ensembl_PRO: ENSP00000337757, ENSP00000441930, ENSP00000361531
RefSeq: XP_011529157.1, NP_001162625.1, NP_775765.1
Others
UniRef100: UniRef100_Q9NQM4
UniRef90: UniRef90_Q9NQM4
UniRef50: UniRef50_Q9NQM4
UniGene: Hs.128836
CCDS: CCDS14528.1

全选

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研究热度

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