TUBGCP4 - tubulin gamma complex associated protein 4 Gene
Also Known as 76P; GCP4; GCP-4; Grip76; MCCRP3
Species: Homo sapiens
About TUBGCP4
This gene has 12 transcripts (splice variants), 205 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in brain (RPKM 7.5), thyroid (RPKM 5.7) and 25 other tissues.
Summary
This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
TUBGCP4 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001286414.3 | NP_001273343.1 | gamma-tubulin complex component 4 isoform a |
| NM_014444.5 | NP_055259.2 | gamma-tubulin complex component 4 isoform b |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
19060904 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in centrosome |
IDA
IDA: Inferred from direct assay
|
21399614 | GOA |
| located in recycling endosome |
IDA
IDA: Inferred from direct assay
|
24561039 | GOA |
TUBGCP4 Protein Structure
Spc97_Spc98: Spc97 / Spc98 family (4 - 573)
- 0
- 200
- 400
- 600
- 667 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
gamma-tubulin complex component 4 |
|
TUBGCP4 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TUBGCP4 | Q9UGJ1 | LZTR1 | Homo sapiens | Q8N653 | 29892012 | |
|
Intra
|
TUBGCP4 | Q9UGJ1 | LZTR1 | Homo sapiens | Q8N653 | 19060904 | |
|
Intra
|
TUBGCP4 | Q9UGJ1 | LZTR1 | Homo sapiens | Q8N653 | 19060904 | |
|
Intra
|
TUBGCP4 | Q9UGJ1 | RNF146 | Homo sapiens | Q9NTX7 | 25416956 | |
|
Intra
|
TUBGCP4 | Q9UGJ1 | GLYCTK | Homo sapiens | Q8IVS8 | 25416956 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
|
| Microcephaly And Chorioretinopathy 3 |
|
|
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
|
| Microcephaly Chorioretinopathy Recessive Form |
|
|
| Microcephaly |
|
|
| Microcephaly, Autosomal Dominant |
|
|
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
|
| Microphthalmia |
|
|
| Exudative Vitreoretinopathy |
|
|
| Primary Autosomal Recessive Microcephaly |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | TUBGCP4 | RGD | RGD:1306924 |
| Mus musculus | TUBGCP4 | MGD | MGI:1196293 |
| Felis catus | TUBGCP4 | VGNC | VGNC:66706 |
| Macaca mulatta | TUBGCP4 | VGNC | VGNC:79045 |
| Bos taurus | TUBGCP4 | VGNC | VGNC:36514 |
| Canis familiaris | TUBGCP4 | VGNC | VGNC:47994 |
| Others | TUBGCP4 | NCBI |