spectrin repeat containing nuclear envelope protein 1
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomalAtaxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalCongenital muscular dystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomalLimb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal+4 more panels — install the extension to see the full list inline on any page.
autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
arthrogryposis multiplex congenita 3, myogenic type
autosomal dominant Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy
hereditary disease
cerebellar ataxia
uterine corpus leiomyoma
juvenile amyotrophic lateral sclerosis
Uterine leiomyoma
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Nesprin-1
Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nucleus-centrosome attachment and nuclear migration in neural progenitors implicating LINC complex association with SUN1/2 and probably association with cytoplasmic dynein-dynactin motor complexes; SYNE1 and SYNE2 may act redundantly. Required for centrosome migration to the apical cell surface during early ciliogenesis. May be involved in nuclear remodeling during sperm head formation in spermatogenesis; a probable SUN3:SYNE1/KASH1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette
SYNE1 · Q8NF91-6isoform
No predicted structure exists for the canonical Q8NF91 sequence; metrics below describe this isoform.
Mean pLDDT
80.7/ 100
Confident
1,725 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
