InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: OBSCN

Summary

InnateDB Protein

IDBP-107224.7

Last Modified

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

Gene Symbol

OBSCN

Protein Name

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000284548

InnateDB Gene

IDBG-107220 (OBSCN)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:11448995, ECO:0000269PubMed:16205939}.

Subcellular Localization

Isoform 3: Cytoplasm, myofibril, sarcomere, M line. Cytoplasm, myofibril, sarcomere, Z line. Note=In differentiating skeletal muscle cells, isoform 3 primarily localizes to the sarcomeric M-line and less frequently to the Z- disk. Isoform 3 colocalizes with ANK1 isoform Mu17/ank1.5 at the M-line in differentiated skeletal muscle cells.

Disease Associations

Note=A chromosomal aberration involving OBSCN has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with PTHB1.

Tissue Specificity

Comments

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: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:0030506	ankyrin binding
GO:0031432	titin binding
GO:0046872	metal ion binding

Biological Process

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

Cellular Component

GO:0005829	cytosol
GO:0030016	myofibril
GO:0030018	Z disc
GO:0031430	M band

Protein Structure and Domains

PDB ID

InterPro

IPR000048 IQ motif, EF-hand binding site
IPR000219 Dbl homology (DH) domain
IPR001452 SH3 domain
IPR001849 Pleckstrin homology domain
IPR003596 Immunoglobulin V-set, subgroup
IPR003598 Immunoglobulin subtype 2
IPR003599 Immunoglobulin subtype
IPR003961 Fibronectin, type III
IPR007110 Immunoglobulin-like domain
IPR013098 Immunoglobulin I-set
IPR013106 Immunoglobulin V-set domain
IPR013151 Immunoglobulin

PFAM