OBSCN

Chr 1q42.13

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

Aliases:: KIAA1556, UNC89, KIAA1639, ARHGEF30
MANE:: ENST00000680850.1

OMIM: 608616 ↗NCBI: 84033 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

OBSCN · Q5VST9

Mean pLDDT

Not published

AlphaFold has not published a prediction for this sequence. This is common for very long proteins.

Confidence breakdown

Check AlphaFold DB

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Acute rhabdomyolysis
BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Abnormality of the skeletal system
0.65
Acute rhabdomyolysis
0.41
atrial fibrillation
0.40
hereditary recurrent myoglobinuria
0.38
hereditary disease
0.37
Short stature
0.34
hearing loss, autosomal recessive 120
0.33
Arrhythmogenic right ventricular dysplasia
0.29
Rare familial disorder with hypertrophic cardiomyopathy
0.28
musculoskeletal system disorder
0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Obscurin

Structural component of striated muscles which plays a role in myofibrillogenesis. Probably involved in the assembly of myosin into sarcomeric A bands in striated muscle (PubMed:11448995, PubMed:16205939). Has serine/threonine protein kinase activity and phosphorylates N-cadherin CDH2 and sodium/potassium-transporting ATPase subunit ATP1B1 (By similarity). Binds (via the PH domain) strongly to phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) and phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), and to a lesser extent to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4-phosphate (PtdIns(4)P), phosphatidylinositol 5-phosphate (PtdIns(5)P) and phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) (PubMed:28826662)