• Gene id: 83544

Gene Summary

• Gene Symbol: DNAL1   Gene   UCSC   Ensembl
• Aliases: C14orf168, CILD16, LC1
• Gene name: dynein axonemal light chain 1
• Alternate names: dynein light chain 1, axonemal,
• Gene location: 14q24.3 (73644985: 73703731)     Exons: 10     NC_000014.9
• Gene summary(Entrez): 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 i
• OMIM: 610062

SNPs

rs387907021

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.73689432A>G
NC_000014.8   g.74156135A>G
NG_028083.2   g.49558A>G
NG_028083.1   g.49558A>G
NM_031427.4   c.449A>G
NM_031427.3   c.449A>G
NM_001201366.1   c.332A>G
NM_001201366.2   c.332A>G
XM_017021679.2   c.332A>G
XM_024449715.1   c.332A>G
NP_113615.2   p.

Protein Summary

• Protein general information: Q4LDG9  
  • Name: Dynein light chain 1, axonemal (LC1)
  • Length: 190  
  • Mass: 21533
  • Tissue specificity: Expressed in tissues carrying motile cilia such as respiratory epithelia, ependyma and testis. {ECO
• Sequence:

  MAKATTIKEALARWEEKTGQRPSEAKEIKLYAQIPPIEKMDASLSMLANCEKLSLSTNCIEKIANLNGLKNLRIL
  SLGRNNIKNLNGLEAVGDTLEELWISYNFIEKLKGIHIMKKLKILYMSNNLVKDWAEFVKLAELPCLEDLVFVGN
  PLEEKHSAENNWIEEATKRVPKLKKLDGTPVIKGDEEEDN

• Structural information:
  • Protein Domains: (150..19-)
    (/note="LRRCT"-)
  • Interpro: IPR001611  IPR032675  
  • Prosite: PS51450
  • STRING: ENSP00000452037
• Other Databases: GeneCards:  DNAL1  Malacards:  DNAL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0043014	alpha-tubulin binding	IBA	molecular function
GO:0045504	dynein heavy chain binding	IBA	molecular function
GO:0003774	motor activity	IBA	molecular function
GO:0036158	outer dynein arm assembly	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030286	dynein complex	IEA	cellular component
GO:0003774	motor activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0045504	dynein heavy chain binding	IDA	molecular function
GO:0043014	alpha-tubulin binding	IMP	molecular function
GO:0045504	dynein heavy chain binding	IMP	molecular function
GO:0036157	outer dynein arm	ISS	cellular component
GO:0036158	outer dynein arm assembly	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease

Diseases

Associated diseases	References
Primary ciliary dyskinesia	KEGG:H00564
Primary ciliary dyskinesia	KEGG:H00564
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)