InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: OBSCN

Summary

InnateDB Gene

IDBG-107220.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

OBSCN

Gene Name

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000154358

Encoded Proteins

IDBP-107224

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

IDBP-107226

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

IDBP-107230

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

IDBP-390112

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

IDBP-721852

IDBP-722548

IDBP-721761

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:228208130-228378876

Strand

Forward strand

Band

q42.13

Transcripts

ENST00000284548	ENSP00000284548
ENST00000366707	ENSP00000355668
ENST00000366706	ENSP00000355667
ENST00000366704
ENST00000422127	ENSP00000409493
ENST00000493977
ENST00000483539	ENSP00000455688
ENST00000494839
ENST00000474237	ENSP00000455500
ENST00000570156	ENSP00000455507
ENST00000602685
ENST00000602832

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004672	protein kinase activity
GO:0004674	protein serine/threonine kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0005089	Rho guanyl-nucleotide exchange factor activity
GO:0005515	protein binding
GO:0005516	calmodulin binding
GO:0005524	ATP binding
GO:0008307	structural constituent of muscle
GO:0016772	transferase activity, transferring phosphorus-containing groups
GO:0030506	ankyrin binding
GO:0031432	titin binding
GO:0046872	metal ion binding

Biological Process

GO:0006468	protein phosphorylation
GO:0007264	small GTPase mediated signal transduction
GO:0007275	multicellular organismal development
GO:0018108	peptidyl-tyrosine phosphorylation
GO:0032321	positive regulation of Rho GTPase activity
GO:0035023	regulation of Rho protein signal transduction
GO:0036309	protein localization to M-band
GO:0043065	positive regulation of apoptotic process
GO:0045214	sarcomere organization
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0051056	regulation of small GTPase mediated signal transduction
GO:0097190	apoptotic signaling pathway