Symbol: Name: ID: |
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF GFS:4881 |
Gene name: | OBSCN |
Chromosome: | 1q42 |
Previous Symbols: | |
Previous Names: | |
Aliases: | KIAA1556, UNC89, KIAA1639, ARHGEF30 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2681862 | Rat Genome Database ID: | RGD:631335 |
HGNC ID: | HGNC:15719 | RefSeq IDs: | NM_001098623 |
Entrez Gene ID: | 84033 | Ensembl Gene ID: | ENSG00000154358 |
VEGA IDs: | OTTHUMG00000039772 | UniProt ID: | Q5VST9 |
UCSC ID: | uc009xez.1 | OMIM ID: | 608616 |
Pubmed: | PMID11448995 PMID 11814696 | ||
CCDS IDs: |
Obscurin is a protein that in humans is encoded by the OBSCN gene.
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. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].
Function: Involved in myofibrillogenesis. Seems to be involved in assembly of myosin into sarcomeric A bands in striated muscle. Isoform 3 together with ANK1 isoform Mu17/Ank1.5 may provide a molecular link between the sarcoplasmic reticulum and myofibrils.
Products for OBSCN gene
Catalog | Product Name | Application | Company |
GFS:E04881 | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF; ELISA kit | ELISA | n/a |
GFS:A04881 | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF; Anti | ANTIBODIES | n/a |
GFS:P04881 | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF; Protien | Protien | n/a |