DNAL1

Protein identityUniProt · HPA

UniProt accession

Q4LDG9

Gene

DNAL1

Ensembl

ENSG00000119661

Chromosome

14

Canonical length

190 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Centriolar satellite,Centrosome,Basal body,Cytosol,Acrosome,Mid piece,Principal piece,End piece

OverviewNCBI Gene

This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]

Canonical amino-acid sequenceUniProt

190 residues, UniProt reviewed canonical sequence.

>Q4LDG9|DNAL1
     1  MAKATTIKEA LARWEEKTGQ RPSEAKEIKL YAQIPPIEKM DASLSMLANC EKLSLSTNCI
    61  EKIANLNGLK NLRILSLGRN NIKNLNGLEA VGDTLEELWI SYNFIEKLKG IHIMKKLKIL
   121  YMSNNLVKDW AEFVKLAELP CLEDLVFVGN PLEEKHSAEN NWIEEATKRV PKLKKLDGTP
   181  VIKGDEEEDN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNAL1 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)

0.28

Highest tissue expression

51 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNAL1.

Disease | AllUniProt

Conditions DNAL1 is implicated in, by any mechanism.

• Ciliary dyskinesia, primary, 16 (CILD16) MIM:614017

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 152 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Primary ciliary dyskinesia 16
• Primary ciliary dyskinesia
• Kartagener syndrome

Disease | AutoantibodyPubMed

Conditions in which antibodies against DNAL1 are reported. Each links to that disease's full target list.

• Hepatitis, Autoimmune 8

ReferencesPubMed · IEDB

Publications for DNAL1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

0.95

gnomAD pLI

0.01

gnomAD missense Z

1.19

DepMap mean gene effect

0.04

DepMap dependency class

none

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

• outer dynein arm assembly

Molecular functions

• alpha-tubulin binding
• dynein heavy chain binding

Cellular components

• cytoplasm
• microtubule
• outer dynein arm

Protein domainsUniProt · Pfam · InterPro

• Leucine-rich repeat
• Leucine rich repeat 4
• Leucine-rich repeat domain superfamily
• Leucine Rich repeats (2 copies)

KeywordsUniProt

• Acetylation
• Cell projection
• Ciliopathy
• Cytoplasm
• Cytoskeleton
• Dynein
• Kartagener syndrome
• Leucine-rich repeat
• Microtubule
• Motor protein
• Phosphoprotein
• Primary ciliary dyskinesia
• Repeat

InteractionsUniProt · HPA

Protein binding partners of DNAL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DNAH5
• ZMYND10