|
Gene id |
8452 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
CUL3 Gene UCSC Ensembl |
|
Aliases |
CUL-3, PHA2E |
|
Gene name |
cullin 3 |
|
Alternate names |
cullin-3, |
|
Gene location |
2q36.2 (224585396: 224470149) Exons: 20 NC_000006.12
|
|
Gene summary(Entrez) |
This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase com
|
|
OMIM |
603136 |
Protein Summary
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|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa04120 | Ubiquitin mediated proteolysis | | hsa04340 | Hedgehog signaling pathway | |
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| Associated diseases |
References |
| Renal tubular acidosis | KEGG: H02310 |
| Mediates ubiquitination during spermiogenesis | MIK: 16162871 |
| Role in sperm flagellum | MIK: 28395323 |
| Chronic obstructive pulmonary disease (COPD) | GAD: 20463177 |
| Hyperkalemic distal renal tubular acidosis | KEGG: H00243 |
| Spermatogenic defects | MIK: 16162871 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 16162871 |
Mediates u
biquitinat
ion during
spermioge
nesis
|
|
|
|
Male infertility |
|
Show abstract |
| 28395323 |
Role in sp
erm flagel
lum
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
|