Type | Description |
---|---|
Definition | dynein axonemal intermediate chain 1 |
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 |
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
|
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Refseq |
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