GNB5 - G protein subunit beta 5 Gene
Also Known as GB5; HG2E; IDDCA; LADCI; gbeta5
Species: Homo sapiens
About GNB5
This gene has 12 transcripts (splice variants), 283 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in ovary (RPKM 9.7), kidney (RPKM 8.8) and 25 other tissues.
Summary
Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]
GNB5 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001379343.1 | NP_001366272.1 | guanine nucleotide-binding protein subunit beta-5 isoform c |
| NM_006578.4 | NP_006569.1 | guanine nucleotide-binding protein subunit beta-5 isoform a |
| NM_016194.4 | NP_057278.2 | guanine nucleotide-binding protein subunit beta-5 isoform b |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables G-protein gamma-subunit binding |
IPI
IPI: Inferred from physical interaction
|
12606627 | GOA |
| contributes to GTPase activator activity |
IDA
IDA: Inferred from direct assay
|
27677260 | GOA |
| enables GTPase activator activity |
IDA
IDA: Inferred from direct assay
|
10521509 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12606627 | GOA |
| enables protein-folding chaperone binding |
IPI
IPI: Inferred from physical interaction
|
19376773 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in G protein-coupled dopamine receptor signaling pathway |
IDA
IDA: Inferred from direct assay
|
27677260 | GOA |
| involved in negative regulation of voltage-gated calcium channel activity |
IDA
IDA: Inferred from direct assay
|
11007869 | GOA |
| involved in positive regulation of GTPase activity |
IDA
IDA: Inferred from direct assay
|
10521509 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
10521509 | GOA |
GNB5 Protein Structure
WD40: WD domain, G-beta repeat (98 - 133)
WD40: WD domain, G-beta repeat (149 - 174)
WD40: WD domain, G-beta repeat (193 - 223)
WD40: WD domain, G-beta repeat (227 - 267)
WD40: WD domain, G-beta repeat (271 - 309)
WD40: WD domain, G-beta repeat (329 - 353)
WD40: WD domain, G-beta repeat (359 - 394)
- 0
- 100
- 200
- 300
- 395 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
guanine nucleotide-binding protein subunit beta-5 |
|
GNB5 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
GNB5 | O14775 | PFDN5 | Homo sapiens | Q99471 | 25036637 | |
|
Intra
|
GNB5 | O14775 | PFDN5 | Homo sapiens | Q99471 | 33961781 | |
|
Intra
|
GNB5 | O14775 | RGS6 | Homo sapiens | P49758 | 33961781 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
|
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
|
| Attention Deficit-Hyperactivity Disorder |
|
|
| Prolonged Electroretinal Response Suppression |
|
|
| Nervous System Disease |
|
|
| Congenital Nervous System Abnormality |
|
|
| Night Blindness, Congenital Stationary, Type 1h |
|
|
| Progressive Familial Heart Block, Type Ib |
|
|
| Congenital Stationary Night Blindness |
|
|
| Cone-Rod Dystrophy 2 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | GNB5 | VGNC | VGNC:80963 |
| Rattus norvegicus | GNB5 | RGD | RGD:620759 |
| Mus musculus | GNB5 | MGD | MGI:101848 |
| Canis familiaris | GNB5 | VGNC | VGNC:41316 |
| Macaca mulatta | GNB5 | VGNC | VGNC:73097 |
| Bos taurus | GNB5 | VGNC | VGNC:29462 |
| Others | GNB5 | NCBI |