Cep131 - centrosomal protein 131 Gene
Also Known as AZ1; Azi; Azi1
Species: Mus musculus
Summary
The protein encoding this gene is a centriolar satellite protein that localizes around the basal body via transport along microtubules. Knockdown in mouse fibroblasts results in a reduction in ciliogenesis. Null mutant mice display no discernible ciliary phenotypes and embryonic patterning and adult homeostasis are largely unaffected. Male mice are infertile, however, due to defects in microtubule trafficking in the sperm manchette and flagella. In addition, the protein binds to a complex of proteins associated with Bardet-Biedl syndrome called the BBSome, and depletion of this protein results in an accumulation of the BBSome in cilia. [provided by RefSeq, Oct 2014]
Cep131 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001403706.1 | NP_001390635.1 | centrosomal protein of 131 kDa isoform 1 |
| NM_001403734.1 | NP_001390663.1 | centrosomal protein of 131 kDa isoform 2 |
| NM_009734.4 | NP_033864.3 | centrosomal protein of 131 kDa isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein-containing complex binding |
IDA
IDA: Inferred from direct assay
|
24550735 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within intraciliary transport |
IMP
IMP: Inferred from mutant phenotype
|
24415959 | MGI |
| acts upstream of or within intramanchette transport |
IMP
IMP: Inferred from mutant phenotype
|
24415959 | MGI |
| acts upstream of or within manchette assembly |
IMP
IMP: Inferred from mutant phenotype
|
24415959 | MGI |
| acts upstream of or within non-motile cilium assembly |
IMP
IMP: Inferred from mutant phenotype
|
24415959 | MGI |
| acts upstream of or within sperm axoneme assembly |
IMP
IMP: Inferred from mutant phenotype
|
24415959 | MGI |
| acts upstream of or within spermatid development |
IEP
IEP: Inferred from expression pattern
|
8529672 | MGI |
| acts upstream of or within spermatid development |
IMP
IMP: Inferred from mutant phenotype
|
24415959 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in acrosomal vesicle |
IDA
IDA: Inferred from direct assay
|
24415959 | MGI |
| located in centriolar satellite |
IDA
IDA: Inferred from direct assay
|
24415959 | MGI |
| located in ciliary transition zone |
IDA
IDA: Inferred from direct assay
|
24415959 | MGI |
| located in sperm head-tail coupling apparatus |
IDA
IDA: Inferred from direct assay
|
24415959 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
centrosomal protein of 131 kDa |
|
|