Obscurin

OBSCN
Obscurin is a protein that in humans is encoded by the OBSCN gene.wikipedia
32 Related Articles

Titin

TTNCardiomyopathy, dilated 1G (autosomal dominant)Methionylthreonylthreonylglutaminylarginyl...isoleucine
Obscurin belongs to the family of giant sarcomeric signaling proteins that includes titin and nebulin. Titin, obscurin, obscurin-like-1 and myomesin form a ternary complex at sarcomeric M-bands that is critical for sarcomere mechanics. Obscurin belongs to the family of giant sarcomeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. An obscurin mutation Arg4344Gln was identified in patients with hypertrophic cardiomyopathy, which disrupted binding of obscurin to the Z9-Z10 domains of titin. Mutations found the gene encoding titin in patients with limb-girdle muscular dystrophy 2J or Salih myopathy decrease the ability of titin to bind obscurin, suggesting that this may be causative in disease manifestation. Obscurin has been shown to interact with Titin, specifically, with the Novex-3 of Titin, a 6.5 kb exon located upstream of the cardiac-specific N2B exon.
Other giant sarcomeric proteins made out of Fn3/Ig repeats include obscurin and myomesin.

Pleckstrin homology domain

PH domainpleckstrin homologyPH
The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains.

RhoGEF domain

DHDH domainRhoGEFs
The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains.
ABR; AKAP13/ARHGEF13/Lbc; ALS2; ALS2CL; ARHGEF1/p115-RhoGEF; ARHGEF10; ARHGEF10L; ARHGEF11/PDZ-RhoGEF.; ARHGEF12/LARG; ARHGEF15; ARHGEF16; ARHGEF17; ARHGEF18; ARHGEF19; ARHGEF2; ARHGEF25; ARHGEF26; ARHGEF28; ARHGEF3; ARHGEF33; ARHGEF35; ARHGEF37; ARHGEF38; ARHGEF39; ARHGEF4; ARHGEF40; ARHGEF5; ARHGEF6/alpha-PIX; ARHGEF7/beta-PIX; ARHGEF9; BCR; DNMBP; ECT2; ECT2L; FARP1; FARP2; FGD1; FGD2; FGD3; FGD4; FGD5; FGD6; ITSN1/Intersectin 1; ITSN2/Intersectin 2; KALRN/Kalirin; MCF2; MCF2L; MCF2L2; NET1; NGEF; OBSCN; PLEKHG1; PLEKHG2; PLEKHG3; PLEKHG4; PLEKHG4B; PLEKHG5; PLEKHG6; PREX1; PREX2; RASGRF1; RASGRF2; SOS1; SOS2; SPATA13; TIAM1; TIAM2; TRIO; VAV1; VAV2; VAV3.

Immunoglobulin domain

immunoglobulinimmunoglobulin foldimmunoglobulin-like domains
The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains.

ANK1

ankyrin-1small ankyrin 1
Obscurin is the major cytoplasmic ligand for small ankyrin 1 (sANK1), a sarcoplasmic reticular protein, and the scaffolding function of obscurin appears to prevent degradation of sANK1. The C-terminal region of Obscurin interacts with the cytoplasmic domain of small ankyrin 1 and with the exon 43' region of ankyrin B.
The small ANK1 (sAnk1) protein splice variants makes contacts with obscurin, a giant protein surrounding the contractile apparatus in striated muscle.

ANK2

ankyrin B
The C-terminal region of Obscurin interacts with the cytoplasmic domain of small ankyrin 1 and with the exon 43' region of ankyrin B.
Exon 43′ in ankyrin-B is specifically and predominantly expressed in cardiac muscle and harbors key residues for modulating the interaction between ankyrin-B and obscurin.

Protein

proteinsproteinaceousstructural proteins
Obscurin is a protein that in humans is encoded by the OBSCN gene.

Gene

genesnumber of genesgene sequence
Obscurin is a protein that in humans is encoded by the OBSCN gene.

Sarcomere

sarcomeresZ-discZ-discs
Obscurin belongs to the family of giant sarcomeric signaling proteins that includes titin and nebulin. Obscurin is expressed in cardiac and skeletal muscle, and plays a role in the organization of myofibrils during sarcomere assembly. Titin, obscurin, obscurin-like-1 and myomesin form a ternary complex at sarcomeric M-bands that is critical for sarcomere mechanics. Obscurin belongs to the family of giant sarcomeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Obscurin appears to be necessary for the proper incorporation of myosin filaments into sarcomeres and in the assembly of A-bands.

Nebulin

NEB
Obscurin belongs to the family of giant sarcomeric signaling proteins that includes titin and nebulin. Obscurin belongs to the family of giant sarcomeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils.

Cardiac muscle

myocardiumheart musclemyocardial
Obscurin is expressed in cardiac and skeletal muscle, and plays a role in the organization of myofibrils during sarcomere assembly.

Skeletal muscle

skeletal musclesskeletalmuscle
Obscurin is expressed in cardiac and skeletal muscle, and plays a role in the organization of myofibrils during sarcomere assembly.

Myofibril

actomyosinmyofibrilsmyofibrillar
Obscurin is expressed in cardiac and skeletal muscle, and plays a role in the organization of myofibrils during sarcomere assembly. Obscurin belongs to the family of giant sarcomeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils.

Hypertrophic cardiomyopathy

hypertrophic obstructive cardiomyopathyAsymmetric septal hypertrophyFeline hypertrophic cardiomyopathy
A mutation in the OBSCN gene has been associated with hypertrophic cardiomyopathy and altered obscurin protein properties have been associated with other muscle diseases. An obscurin mutation Arg4344Gln was identified in patients with hypertrophic cardiomyopathy, which disrupted binding of obscurin to the Z9-Z10 domains of titin.

Alternative splicing

alternatively splicedtranscript variantssplice variant
Human obscurin may exist as multiple splice variants of approximately 720 kDa, however the full-length nature of only one has been described to date.

MYOM1

myomesin
Titin, obscurin, obscurin-like-1 and myomesin form a ternary complex at sarcomeric M-bands that is critical for sarcomere mechanics.

Sarcoplasmic reticulum

sarcoplasmicsarcoplasmic reticulum (SR)sarco
Obscurin is the major cytoplasmic ligand for small ankyrin 1 (sANK1), a sarcoplasmic reticular protein, and the scaffolding function of obscurin appears to prevent degradation of sANK1. Obscurin belongs to the family of giant sarcomeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils.

Cytoplasm

cytoplasmiccytosolicintracytoplasmic
Obscurin is the major cytoplasmic ligand for small ankyrin 1 (sANK1), a sarcoplasmic reticular protein, and the scaffolding function of obscurin appears to prevent degradation of sANK1.

Ligand

ligandsligand exchangebidentate ligand
Obscurin is the major cytoplasmic ligand for small ankyrin 1 (sANK1), a sarcoplasmic reticular protein, and the scaffolding function of obscurin appears to prevent degradation of sANK1.

Myosin

myosin IImyosin heavy chainmyosins
Obscurin appears to be necessary for the proper incorporation of myosin filaments into sarcomeres and in the assembly of A-bands.

Dilated cardiomyopathy

Familial dilated cardiomyopathyCardiomyopathy, dilateddilated
Obscurin has been shown to exhibit a disease-related isoform switch in patients with dilated cardiomyopathy.

Arginine

ArgL-arginineR
An obscurin mutation Arg4344Gln was identified in patients with hypertrophic cardiomyopathy, which disrupted binding of obscurin to the Z9-Z10 domains of titin.

Glutamine

GlnL-glutamine L -glutamine
An obscurin mutation Arg4344Gln was identified in patients with hypertrophic cardiomyopathy, which disrupted binding of obscurin to the Z9-Z10 domains of titin.

Limb-girdle muscular dystrophy

Limb girdle muscular dystrophydysferlinopathylimb girdle
Mutations found the gene encoding titin in patients with limb-girdle muscular dystrophy 2J or Salih myopathy decrease the ability of titin to bind obscurin, suggesting that this may be causative in disease manifestation.

Protein–protein interaction

interactprotein-protein interactionsprotein-protein interaction
Obscurin has been shown to interact with Titin, specifically, with the Novex-3 of Titin, a 6.5 kb exon located upstream of the cardiac-specific N2B exon.