Obscurin

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Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Protein OBSCN PDB 1v1c.png
PDB rendering based on 1v1c.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols OBSCN ; ARHGEF30; UNC89
External IDs OMIM608616 HomoloGene70869 GeneCards: OBSCN Gene
EC number 2.7.11.1
Orthologs
Species Human Mouse
Entrez 84033 380698
Ensembl ENSG00000154358 ENSMUSG00000061462
UniProt Q5VST9 A2AAJ9
RefSeq (mRNA) NM_001098623 NM_001003914
RefSeq (protein) NP_001092093 NP_001164983
Location (UCSC) Chr 1:
228.4 – 228.57 Mb
Chr 11:
58.99 – 59.14 Mb
PubMed search [1] [2]

Obscurin is a protein that in humans is encoded by the OBSCN gene.[1][2][3]

The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. 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. This protein belongs to the family of giant sacromeric 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. While several transcript variants likely exist for this gene, the full-length nature of only one has been described to date.[3]

Interactions[edit]

OBSCN has been shown to interact with Titin[1] and ANK1.[4]

References[edit]

  1. ^ a b Young P, Ehler E, Gautel M (Jul 2001). "Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly". J Cell Biol 154 (1): 123–36. doi:10.1083/jcb.200102110. PMC 2196875. PMID 11448995. 
  2. ^ Russell MW, Raeker MO, Korytkowski KA, Sonneman KJ (Jan 2002). "Identification, tissue expression and chromosomal localization of human Obscurin-MLCK, a member of the titin and Dbl families of myosin light chain kinases". Gene 282 (1–2): 237–46. doi:10.1016/S0378-1119(01)00795-8. PMID 11814696. 
  3. ^ a b "Entrez Gene: OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF". 
  4. ^ Kontrogianni-Konstantopoulos, Aikaterini; Jones Ellene M, Van Rossum Damian B, Bloch Robert J (Mar 2003). "Obscurin is a ligand for small ankyrin 1 in skeletal muscle". Mol. Biol. Cell (United States) 14 (3): 1138–48. doi:10.1091/mbc.E02-07-0411. ISSN 1059-1524. PMC 151585. PMID 12631729. 

Further reading[edit]