InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: OBSL1

Summary

InnateDB Protein

IDBP-81932.7

Last Modified

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

Gene Symbol

OBSL1

Protein Name

obscurin-like 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000362980

InnateDB Gene

IDBG-81924 (OBSL1)

Protein Structure

UniProt Annotation

Function

Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Acts as a regulator of the Cul7-RING(FBXW8) ubiquitin-protein ligase, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Required to localize CUL7 to the Golgi apparatus in neurons. {ECO:0000269PubMed:21572988, ECO:0000269PubMed:24793695, ECO:0000269PubMed:24793696}.

Subcellular Localization

Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, perinuclear region. Golgi apparatus. Note=Colocalizes with CUL7 at the Golgi apparatus in neurons.

Disease Associations

3M syndrome 2 (3M2) [MIM:612921]: An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies. {ECO:0000269PubMed:19481195, ECO:0000269PubMed:23018678}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed, with predominant levels found in the heart. {ECO:0000269PubMed:17289344}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.

Experimentally validated
Total	23 [view]
Protein-Protein	23 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008093	cytoskeletal adaptor activity

Biological Process

GO:0000226	microtubule cytoskeleton organization
GO:0007010	cytoskeleton organization
GO:0007030	Golgi organization
GO:0007088	regulation of mitosis
GO:0034067	protein localization to Golgi apparatus
GO:0050775	positive regulation of dendrite morphogenesis
GO:0055003	cardiac myofibril assembly

Cellular Component

GO:0005737	cytoplasm
GO:0005794	Golgi apparatus
GO:0005813	centrosome
GO:0014704	intercalated disc
GO:0030018	Z disc
GO:0031430	M band
GO:0048471	perinuclear region of cytoplasm
GO:1990393	3M complex

Protein Structure and Domains

PDB ID

InterPro

IPR003598 Immunoglobulin subtype 2
IPR003599 Immunoglobulin subtype
IPR003961 Fibronectin, type III
IPR007110 Immunoglobulin-like domain
IPR013098 Immunoglobulin I-set
IPR013151 Immunoglobulin

PFAM

PF00041
PF01108
PF07679
PF00047

PRINTS

PIRSF

SMART

SM00408
SM00409
SM00060

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O75147