例如:"NBL1", "4681", "drought"
收藏
27019 DNAI1

27019

DNAI1

dynein axonemal intermediate chain 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition dynein axonemal intermediate chain 1

研究结论

Date Results Publications
2021-02-06 13:50:00 Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia. 31772028
2018-10-20 11:18:00 A novel mutation causing primary ciliary dyskinesia was found in Japanese patients. 28939216
2011-03-26 10:23:00 The worldwide involvement of DNAI1 mutations in PCD pathogenesis in families not preselected for ODA defects ranges from 7 to 10%. 21143860
2010-06-30 22:05:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614
2010-01-21 00:00:00 Male carriers of the mutations always exhibit asthenozoospermia, whereas female carriers manifest no alterations in either fertility or pulmonary clearance. 18492703

名称对应

Type IDs
Synonymous CILD1, DIC1, ICS1, PCD
Gene
UniProtKB-ID: DNAI1_HUMAN, A0A140VJI0_HUMAN, A0A087WWV9_HUMAN
UniprotKB: Q9UI46, A0A140VJI0, A0A087WWV9
UniParc: UPI000382F365, UPI0001915243, UPI0000129A09
EMBL: HM005367, AF190494, AF190492, AF190496, AF190489, AF091619, AF190483, AF190481, AF190479, AF190491, AL160270, AF190480, AK302499, AF190485, CH471071, AF190482, AF190486, AF190484, BC030583, AF190477, AF190493, AF190490, AF190495, AF190478, AF190488, AF190487
Ensembl: ENSG00000122735
KO: hsa:27019
Nucleutide sequences
EMBL-CDS: AAF18570.1, BAH13727.1, AAH30583.1, AAF19816.1, EAW58453.1, AEE60967.1
Gene_ORFName: hCG_1811257
Ensembl_TRS: ENST00000242317, ENST00000614641
Protein sequencees
Ensembl_PRO: ENSP00000242317, ENSP00000480538
RefSeq: NP_036276.1, NP_001268357.1
Others
UniRef100: UniRef100_Q9UI46, UniRef100_A0A087WWV9
UniRef90: UniRef90_Q9UI46, UniRef90_A0A087WWV9
UniRef50: UniRef50_Q9UI46
UniGene: Hs.112667
CCDS: CCDS6557.1

全选

{{proteinIndex+1}}
mRNA Protein UniprotKB Description
Refseq {{protein.nucleotideVersion}}

Ensembl: {{protein.nucleotideEnsembl}}

{{protein.proteinVersion}}

Ensembl: {{protein.proteinEnsembl}}

{{uniprot}}
Definition: {{{protein.definition}}}

Transcript Veriant:{{protein.transcriptVeriant}}

Status: {{protein.status}}

Location ( {{protein.positionStart}}..{{protein.positionEnd}} )

暂无数据

研究热度

热点单位
排名 科研单位 文献
{{affIndex+1}}

{{aff.value}}

{{aff.size}}

目前还没有研究热点单位

热点人员
排名 研究人员 文献
{{authorIndex+1}}

{{author.value}}

{{author.size}}

目前还没有研究热点人员