Gene id |
10126 |
Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
Gene Symbol |
DNAL4 Gene UCSC Ensembl |
Aliases |
MRMV3, PIG27 |
Gene name |
dynein axonemal light chain 4 |
Alternate names |
dynein light chain 4, axonemal, dynein light chain, outer arm 4, dynein, axonemal, light polypeptide 4, proliferation-inducing gene 27, proliferation-inducing protein 27, |
Gene location |
22q13.1 (38794142: 38778507) Exons: 4 NC_000022.11
|
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 |
610565 |
Protein Summary
|
Protein general information
| O96015
Name: Dynein light chain 4, axonemal
Length: 105 Mass: 12009
|
Sequence |
MGETEGKKDEADYKRLQTFPLVRHSDMPEEMRVETMELCVTACEKFSNNNESAAKMIKETMDKKFGSSWHVVIGE GFGFEITHEVKNLLYLYFGGTLAVCVWKCS
|
Structural information |
|
Other Databases |
GeneCards: DNAL4  Malacards: DNAL4 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0030286 |
dynein complex
|
IBA |
cellular component |
GO:0045505 |
dynein intermediate chain binding
|
IBA |
molecular function |
GO:0051959 |
dynein light intermediate chain binding
|
IBA |
molecular function |
GO:2000582 |
positive regulation of AT P-dependent microtubule m otor activity, plus-end-d irected
|
IBA |
biological process |
GO:0007017 |
microtubule-based process
|
IEA |
biological process |
GO:0030286 |
dynein complex
|
IEA |
cellular component |
GO:0030286 |
dynein complex
|
IEA |
cellular component |
GO:0003774 |
motor activity
|
IEA |
molecular function |
GO:0042995 |
cell projection
|
IEA |
cellular component |
GO:0005874 |
microtubule
|
IEA |
cellular component |
GO:0005929 |
cilium
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005856 |
cytoskeleton
|
IEA |
cellular component |
GO:0005886 |
plasma membrane
|
TAS |
cellular component |
GO:0003777 |
microtubule motor activit y
|
TAS |
molecular function |
GO:0007018 |
microtubule-based movemen t
|
TAS |
biological process |
GO:0042802 |
identical protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
|
|
Pathway id | Pathway name |
hsa05016 | Huntington disease | |
|
Associated diseases |
References |
Congenital mirror movements | KEGG:H01287 |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Cryptorchidism | MIK: 28606200 |
Spermatogenic defects | MIK: 31037746 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
28606200 |
Cryptorchi dism
|
|
|
Monozgotic twin s (1 control, I cwith cryptorc hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
31037746 |
Spermatoge nic defect s
|
|
|
16 (1 control, 15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|