CUL7 - cullin 7 Gene
Also Known as 3M1; CUL-7; KIAA0076; dJ20C7.5
Species: Homo sapiens
About CUL7
This gene has 19 transcripts (splice variants), 243 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 10.5), thyroid (RPKM 8.9) and 25 other tissues.
Summary
The protein encoded by this gene is a component of an E3 ubiquitin-protein Ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
CUL7 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001168370.2 | NP_001161842.2 | cullin-7 isoform 1 |
| NM_001374872.1 | NP_001361801.1 | cullin-7 isoform 1 |
| NM_001374873.1 | NP_001361802.1 | cullin-7 isoform 3 |
| NM_001374874.1 | NP_001361803.1 | cullin-7 isoform 4 |
| NM_014780.5 | NP_055595.2 | cullin-7 isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17298945 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in epithelial to mesenchymal transition |
IDA
IDA: Inferred from direct assay
|
20139075 | GOA |
| involved in microtubule cytoskeleton organization |
IMP
IMP: Inferred from mutant phenotype
|
24793695 | GOA |
| involved in mitotic cytokinesis |
IMP
IMP: Inferred from mutant phenotype
|
24793695 | GOA |
| involved in placenta development |
IDA
IDA: Inferred from direct assay
|
20139075 | GOA |
| involved in positive regulation of dendrite morphogenesis |
IGI
IGI: Inferred from genetic interaction
|
21572988 | GOA |
| involved in protein ubiquitination |
IDA
IDA: Inferred from direct assay
|
18498745 | GOA |
| involved in regulation of mitotic nuclear division |
IMP
IMP: Inferred from mutant phenotype
|
24793695 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of 3M complex |
IDA
IDA: Inferred from direct assay
|
24793695 | GOA |
| part of Cul7-RING ubiquitin ligase complex |
IDA
IDA: Inferred from direct assay
|
18498745 | GOA |
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
21572988 | GOA |
| located in centrosome |
IDA
IDA: Inferred from direct assay
|
24793695 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
24793695 | GOA |
| located in perinuclear region of cytoplasm |
IDA
IDA: Inferred from direct assay
|
21572988 | GOA |
CUL7 Protein Structure
Cul7: Mouse development and cellular proliferation protein Cullin-7 (360 - 434)
ANAPC10: Anaphase-promoting complex, subunit 10 (APC10) (853 - 972)
Cullin: Cullin family (1144 - 1538)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1698 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
cullin-7 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Three M Syndrome 1 |
|
|
| Shox-Related Short Stature |
|
|
| Osteogenesis Imperfecta, Type Xiv |
|
|
| Chondrodysplasia, Blomstrand Type |
|
|
| Mulibrey Nanism |
|
|
| Spastic Paraplegia 17, Autosomal Dominant |
|
|
| Dubowitz Syndrome |
|
|
| Silver-Russell Syndrome 1 |
|
|
| Rasopathy |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | CUL7 | RGD | RGD:1587048 |
| Canis familiaris | CUL7 | VGNC | VGNC:39734 |
| Macaca mulatta | CUL7 | VGNC | VGNC:71446 |
| Mus musculus | CUL7 | MGD | MGI:1913765 |
| Bos taurus | CUL7 | VGNC | VGNC:27835 |
| Felis catus | CUL7 | VGNC | VGNC:61287 |
| Others | CUL7 | NCBI |