Protein Summary
Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Required for internalization of the GABA receptor GABRA1 from the cell membrane via endosomes and subsequent GABRA1 degradation (By similarity). Acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component THBS1 (PubMed:18710924). Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008]
- ENST00000352689
- ENSP00000323527
- ENSG00000128585
- TWA2
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
transcription factor perturbation | 0.96 | ||
trait | 0.93 | ||
protein domain | 0.85 | ||
microRNA | 0.84 | ||
transcription factor binding site profile | 0.84 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 28.21 (req: < 5)
Gene RIFs: 4 (req: <= 3)
Antibodies: 138 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 28.21 (req: >= 5)
Gene RIFs: 4 (req: > 3)
Antibodies: 138 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 6
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
Related Tools
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (104)
RMND5A
Novelty: 0.01820349
p_int: 0.999375063
p_ni: 0.000624937
Score: 0.928
Data Source: BioPlex,STRINGDB
TDGF1
Novelty: 0.00527099
p_int: 0.969673768
p_ni: 0.030326232
Score: 0.303
Data Source: BioPlex,STRINGDB
PIGT
Family: Enzyme
Novelty: 0.02539879
p_int: 0.968315232
p_ni: 0.031684768
Data Source: BioPlex
Nearest Tclin Targets
Pathways (1)
WikiPathways (1)
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
WikiPathways | Ciliary landscape | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Ciliary landscape | ||||
Viral Interactions (0)
Gene Ontology Terms (14)
Functions (1)
Components (8)
Processes (5)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Sequence or structural Similarity (ISS) | UniProtKB | |||
Disease Associations ()
GWAS Traits (18)
Items per page:
1 – 5 of 18
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
balding measurement | 1 | 2 | 2 | 92.7 | |||||
lymphocyte count | 2 | 2 | 2 | 85.8 | |||||
platelet crit | 2 | 1 | 2 | 82.3 | |||||
neutrophil count | 2 | 2 | 2 | 82 | |||||
puberty onset measurement | 3 | 1 | 3 | 81.1 | |||||
Items per page:
1 – 5 of 18
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
balding measurement | 2 | 92.7 | |||||
lymphocyte count | 2 | 85.8 | |||||
platelet crit | 2 | 82.3 | |||||
neutrophil count | 2 | 82 | |||||
puberty onset measurement | 3 | 81.1 | |||||
Find similar targets by:
IDG Resources
Orthologs (15)
1 – 5 of 15
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Chimp | muskelin 1 | VGNC:14046 | 463733 | |||||
Macaque | muskelin 1 | 704338 | ||||||
Mouse | MGI:1351638 | 27418 | ||||||
Rat | RGD:620076 | 83536 | ||||||
Dog | muskelin 1 | VGNC:43250 | 607643 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Chimp | muskelin 1 | |||||
Macaque | muskelin 1 | |||||
Mouse | ||||||
Rat | ||||||
Dog | muskelin 1 | |||||
Publication Statistics
PubMed Score 28.21
PubMed score by year
PubTator Score 12.37
PubTator score by year
Related Publications
Text Mined References (21)
GeneRif Annotations (4)
Items per page:
0 of 0
PMID | Year | Title |
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