DNAL1 - dynein axonemal light chain 1 Gene
Also Known as LC1; CILD16; C14orf168
Species: Homo sapiens
About DNAL1
This gene has 9 transcripts (splice variants), 196 orthologues and is associated with 2 phenotypes. Broad expression in thyroid (RPKM 3.1), brain (RPKM 3.1) and 25 other tissues.
Summary
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]
DNAL1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001201366.2 | NP_001188295.1 | dynein axonemal light chain 1 isoform 2 |
| NM_031427.4 | NP_113615.2 | dynein axonemal light chain 1 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables alpha-tubulin binding |
IMP
IMP: Inferred from mutant phenotype
|
21496787 | GOA |
| enables dynein heavy chain binding |
IDA
IDA: Inferred from direct assay
|
15845866 | GOA |
| enables dynein heavy chain binding |
IMP
IMP: Inferred from mutant phenotype
|
21496787 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
29601588 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in outer dynein arm assembly |
IMP
IMP: Inferred from mutant phenotype
|
21496787 | GOA |
DNAL1 Protein Structure
LRR_9: Leucine-rich repeat (55 - 155)
- 0
- 100
- 190 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dynein axonemal light chain 1 |
|
DNAL1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
DNAL1 | Q4LDG9 | LRRC40 | Homo sapiens | Q9H9A6 | 32296183 | |
|
Intra
|
DNAL1 | Q4LDG9 | LRRC40 | Homo sapiens | Q9H9A6 | 32296183 | |
|
Intra
|
DNAL1 | Q4LDG9 | LRRC40 | Homo sapiens | Q9H9A6 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Ciliary Dyskinesia, Primary, 16 |
|
|
| Primary Ciliary Dyskinesia |
|
|
| Amelogenesis Imperfecta, Type Ib |
|
|
| Amelogenesis Imperfecta, Type Ie |
|
|
| Kartagener Syndrome |
|
|
| Situs Inversus |
|
|
| Paranoid Personality Disorder |
|
|
| Autoimmune Cholangitis |
|
|
| Drug-Induced Hepatitis |
|
|
| Sclerosing Cholangitis |
|
|
| Cholangitis, Primary Sclerosing |
|
|
| Amelogenesis Imperfecta |
|
|
| Primary Biliary Cholangitis |
|
|