DNAI1
Dynein axonemal intermediate chain 1
Also known as: CILD1, DIC1, DNAI1_HUMAN, PCD
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UI46
- Gene
- DNAI1
- Ensembl
- ENSG00000122735
- Chromosome
- 9
- Canonical length
- 699 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Primary cilium,Connecting piece,Mid piece,Principal piece,End piece
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
699 residues, UniProt reviewed canonical sequence.
>Q9UI46|DNAI1
1 MIPASAKAPH KQPHKQSISI GRGTRKRDED SGTEVGEGTD EWAQSKATVR PPDQLELTDA
61 ELKEEFTRIL TANNPHAPQN IVRYSFKEGT YKPIGFVNQL AVHYTQVGNL IPKDSDEGRR
121 QHYRDELVAG SQESVKVISE TGNLEEDEEP KELETEPGSQ TDVPAAGAAE KVTEEELMTP
181 KQPKERKLTN QFNFSERASQ TYNNPVRDRE CQTEPPPRTN FSATANQWEI YDAYVEELEK
241 QEKTKEKEKA KTPVAKKSGK MAMRKLTSME SQTDDLIKLS QAAKIMERMV NQNTYDDIAQ
301 DFKYYDDAAD EYRDQVGTLL PLWKFQNDKA KRLSVTALCW NPKYRDLFAV GYGSYDFMKQ
361 SRGMLLLYSL KNPSFPEYMF SSNSGVMCLD IHVDHPYLVA VGHYDGNVAI YNLKKPHSQP
421 SFCSSAKSGK HSDPVWQVKW QKDDMDQNLN FFSVSSDGRI VSWTLVKRKL VHIDVIKLKV
481 EGSTTEVPEG LQLHPVGCGT AFDFHKEIDY MFLVGTEEGK IYKCSKSYSS QFLDTYDAHN
541 MSVDTVSWNP YHTKVFMSCS SDWTVKIWDH TIKTPMFIYD LNSAVGDVAW APYSSTVFAA
601 VTTDGKAHIF DLAINKYEAI CNQPVAAKKN RLTHVQFNLI HPIIIVGDDR GHIISLKLSP
661 NLRKMPKEKK GQEVQKGPAV EIAKLDKLLN LVREVKIKTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DNAI1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 65 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 65 nTPM
- fallopian tube: 32 nTPM
- testis: 31 nTPM
- pituitary gland: 9.1 nTPM
- basal ganglia: 5.2 nTPM
- lung: 4.6 nTPM
Single-cell type
- ependymal cells: 572 nCPM
- respiratory ciliated cells: 495 nCPM
- fallopian tube ciliated cells: 296 nCPM
- choroid plexus epithelial cells: 296 nCPM
- endometrial ciliated cells: 278 nCPM
- epididymal efferent duct ciliated cells: 251 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 59 nTPM
- midbrain: 20 nTPM
- medulla oblongata: 14 nTPM
- spinal cord: 10 nTPM
- pons: 7.6 nTPM
- basal ganglia: 5.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DNAI1.
Disease | AllUniProt
Conditions DNAI1 is implicated in, by any mechanism.
- Ciliary dyskinesia, primary, 1 (CILD1) MIM:244400
- Kartagener syndrome (KTGS) MIM:244400
Disease | GeneticClinVar
169 pathogenic / likely-pathogenic of 1,070 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.73
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.29
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cilium movement
- determination of left/right symmetry
- epithelial cilium movement involved in extracellular fluid movement
- flagellated sperm motility
- heart development
- insulin receptor signaling pathway
- outer dynein arm assembly
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DNAI1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DNAI1 as an antibody target. Whether an autoantibody or antibody against DNAI1 could matter depends on whether native DNAI1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DNAI1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DNAI1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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