DNALI1
Axonemal dynein light intermediate polypeptide 1
Also known as: dJ423B22.5, hp28, IDLC_HUMAN, P28
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O14645
- Gene
- DNALI1
- Ensembl
- ENSG00000163879
- Chromosome
- 1
- Canonical length
- 258 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Microtubules,Cytokinetic bridge,Mitotic spindle,Primary cilium,Mid piece,Principal piece,End piece
OverviewNCBI Gene
This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are seen in patients with ICS. Immotile mutant strains of Chlamydomonas, a biflagellated algae, exhibit similar defects. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
258 residues, UniProt reviewed canonical sequence.
>O14645|DNALI1
1 MIPPADSLLK YDTPVLVSRN TEKRSPKARL LKVSPQQPGP SGSAPQPPKT KLPSTPCVPD
61 PTKQAEEILN AILPPREWVE DTQLWIQQVS STPSTRMDVV HLQEQLDLKL QQRQARETGI
121 CPVRRELYSQ CFDELIREVT INCAERGLLL LRVRDEIRMT IAAYQTLYES SVAFGMRKAL
181 QAEQGKSDME RKIAELETEK RDLERQVNEQ KAKCEATEKR ESERRQVEEK KHNEEIQFLK
241 RTNQQLKAQL EGIIAPKKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DNALI1 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)
- 0.46
- Highest tissue expression
- 75 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 75 nTPM
- fallopian tube: 51 nTPM
- testis: 29 nTPM
- hypothalamus: 15 nTPM
- epididymis: 14 nTPM
- pituitary gland: 13 nTPM
Single-cell type
- late spermatids: 1,405 nCPM
- early spermatids: 658 nCPM
- late primary spermatocytes: 514 nCPM
- respiratory ciliated cells: 448 nCPM
- fallopian tube ciliated cells: 391 nCPM
- epididymal efferent duct ciliated cells: 364 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: 36 nTPM
- midbrain: 26 nTPM
- medulla oblongata: 19 nTPM
- hypothalamus: 18 nTPM
- white matter: 17 nTPM
- spinal cord: 17 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DNALI1.
Disease | AllUniProt
Conditions DNALI1 is implicated in, by any mechanism.
- Spermatogenic failure 83 (SPGF83) MIM:620354
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 66 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spermatogenic failure 83
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)
- 1.51
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.02
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DNALI1 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 DNALI1 as an antibody target. Whether an autoantibody or antibody against DNALI1 could matter depends on whether native DNALI1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DNALI1 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 DNALI1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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