Homo sapiens Protein: OBSL1 | |||||||||||||||||||
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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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF00041
PF01108 PF07679 PF00047 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00408
SM00409 SM00060 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | O75147 | ||||||||||||||||||
PhosphoSite | PhosphoSite-O75147 | ||||||||||||||||||
TrEMBL | A8MSZ8 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 23363 | ||||||||||||||||||
UniGene | Hs.526594 | ||||||||||||||||||
RefSeq | NP_001166879 | ||||||||||||||||||
HUGO | HGNC:29092 | ||||||||||||||||||
OMIM | 610991 | ||||||||||||||||||
CCDS | CCDS54433 | ||||||||||||||||||
HPRD | |||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB014557 AC009955 BC007201 EF063637 EF063638 | ||||||||||||||||||
GenPept | AAH07201 ABO42327 ABO42328 BAA31632 | ||||||||||||||||||