Official symbol | DNAH5 |
Gene id | 1767 |
Organism | Homo sapiens |
Official full symbol | dynein axonemal heavy chain 5 |
Gene type | protein-coding |
Also known as | CILD3, DNAHC5, HL1, KTGNR, PCD |
Summary | This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. |
Genomic regions | Chromosome 5 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
DNAH5-201 | ENST00000265104.5 | 15781 | 4624aa | Protein coding | CCDS3882 | Q8TE73 | NM_001369.3 | TSL:1, GENCODE basic, APPRIS P2, MANE Select v0.92, |
DNAH5-206 | ENST00000681290.1 | 15645 | 4609aa | Protein coding | - | - | - | GENCODE basic, APPRIS ALT2, |
DNAH5-205 | ENST00000680213.1 | 1730 | 478aa | Non stop decay | - | - | - | - |
DNAH5-203 | ENST00000508040.1 | 2081 | 205aa | Nonsense mediated decay | - | - | - | TSL:2, |
DNAH5-202 | ENST00000504001.3 | 760 | No protein | Processed transcript | - | - | - | TSL:5, |
DNAH5-204 | ENST00000512443.1 | 676 | No protein | Retained intron | - | - | - | TSL:3, |
Target Gene | DNAH5 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene DNAH5 had been KO in a549 cell line. |
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