DNAI1
Summary: This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
dynein axonemal intermediate chain 1 | MIM:604366 | Ensembl:ENSG00000122735 | HGNC:HGNC:2954 | PA27407 | 9p13.3 |
GO terms in DNAI1
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
BP | IBA | GO:0003341 | cilium movement |
BP | IMP | GO:0003341 | cilium movement |
BP | IBA | GO:0007018 | microtubule-based movement |
BP | IMP | GO:0007368 | determination of left/right symmetry |
BP | IMP | GO:0030317 | flagellated sperm motility |
BP | IBA | GO:0036158 | outer dynein arm assembly |
BP | IMP | GO:0036158 | outer dynein arm assembly |
CC | TAS | GO:0005856 | cytoskeleton |
CC | IEA | GO:0005874 | microtubule |
CC | IDA | GO:0005929 | cilium |
CC | IBA | GO:0030286 | dynein complex |
CC | IBA | GO:0036157 | outer dynein arm |
CC | IMP | GO:0036157 | outer dynein arm |
MF | TAS | GO:0003774 | motor activity |
MF | IPI | GO:0005515 | protein binding |
MF | IBA | GO:0008574 | ATP-dependent microtubule motor activity, plus-end-directed |
MF | IBA | GO:0045503 | dynein light chain binding |
MF | IBA | GO:0045504 | dynein heavy chain binding |
Gene expression in normal tissue: DNAI1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DNAI1
Database | Pathway ID | Pathway Des. |
---|---|---|
kegg | hsa05016 | Huntington,s disease - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DNAI1