Homo sapiens Gene: OBSL1
Summary
InnateDB Gene IDBG-81924.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol OBSL1
Gene Name obscurin-like 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000124006
Encoded Proteins
obscurin-like 1
obscurin-like 1
obscurin-like 1
obscurin-like 1
obscurin-like 1
obscurin-like 1
obscurin-like 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:219550729-219571859
Strand Reverse strand
Band q35
Transcripts
ENST00000373876 ENSP00000362983
ENST00000373873 ENSP00000362980
ENST00000289656 ENSP00000289656
ENST00000404537 ENSP00000385636
ENST00000456147 ENSP00000403665
ENST00000465149
ENST00000462534
ENST00000489804
ENST00000472388
ENST00000462385
ENST00000465589
ENST00000491370
ENST00000596474
ENST00000603926 ENSP00000474519
ENST00000604031 ENSP00000475126
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_001173408 NM_001173431 NM_015311 XM_005246421 XM_005246423 XM_005246424 XM_006712386
HUGO
OMIM
CCDS CCDS46520 CCDS54433 CCDS63134
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas