LMOD1

The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq]

Full Name

leiomodin 1 (smooth muscle)

Function

Required for proper contractility of visceral smooth muscle cells (PubMed:28292896).
Mediates nucleation of actin filaments.

Biological Process

Actin filament organizationManual Assertion Based On ExperimentIBA:GO_Central
Actin nucleationManual Assertion Based On ExperimentIDA:UniProtKB
Muscle contractionManual Assertion Based On ExperimentIBA:GO_Central
Myofibril assemblyManual Assertion Based On ExperimentIBA:GO_Central
Pointed-end actin filament cappingIEA:InterPro
Positive regulation of actin filament polymerizationManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Cytoplasm, myofibril, sarcomere
Cytoplasm, cytoskeleton
Colocalizes with actin filaments in sarcomeres.

Involvement in disease

Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 (MMIHS3):
A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS3 inheritance is autosomal recessive.