OBSL1 - obscurin like cytoskeletal adaptor 1 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23363

About OBSL1

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,547,206-219,571,539 (from NCBI)

This gene has 15 transcripts (splice variants), 274 orthologues, 11 paralogues and is associated with 3 phenotypes. Broad expression in ovary (RPKM 37.4), testis (RPKM 15.3) and 19 other tissues.

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]

OBSL1 Products (3)

mRNA	Protein	Name
NM_001173408.2	NP_001166879.1	obscurin-like protein 1 isoform 3 precursor
NM_001173431.2	NP_001166902.1	obscurin-like protein 1 isoform 2 precursor
NM_015311.3	NP_056126.1	obscurin-like protein 1 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20133654	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Golgi organization	IMP IMP: Inferred from mutant phenotype	21572988	GOA
involved in microtubule cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	24793695	GOA
involved in positive regulation of dendrite morphogenesis	IMP IMP: Inferred from mutant phenotype	21572988	GOA
involved in protein localization to Golgi apparatus	IMP IMP: Inferred from mutant phenotype	21572988	GOA
involved in regulation of mitotic nuclear division	IMP IMP: Inferred from mutant phenotype	24793695	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of 3M complex	IDA IDA: Inferred from direct assay	24793695	GOA
located in Golgi apparatus	IDA IDA: Inferred from direct assay	21572988	GOA
located in centrosome	IDA IDA: Inferred from direct assay	24793695	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	24793695	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	21572988	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OBSL1 Protein Structure

I-set

Ig_2

I-set

0
300
600
900
1200
1500
1800
1896 a.a.

Protein Preferred Names	Protein Names
obscurin-like protein 1	obscurin like 1

OBSL1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	OBSL1	O75147	TTN	Homo sapiens	Q8WZ42	ITC	20489725
Intra	OBSL1	O75147	TTN	Homo sapiens	Q8WZ42	GMS	20489725

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Three M Syndrome 2	3m Syndrome 2 3M2 3-M Syndrome 2 3m Syndrome-2 3m Syndrome, Type 2
Three M Syndrome 1	3-M Syndrome Yakut Short Stature Syndrome 3m Syndrome Le Merrer Syndrome Dolichospondylic Dysplasia Gloomy Face Syndrome Three M Syndrome 3M1 3m Syndrome 1 Miller-Mckusick-Malvaux Syndrome 3-Msbn Three-M Slender-Boned Nanism Miller-Mckusick-Malvaux-Syndrome 3-M Syndrome 1 3m Syndrome-1 3m Syndrome, Type 1 Dwarfism Dwarfism Tall Vertebrae
Meier-Gorlin Syndrome 1	Meier-Gorlin Syndrome Ear, Patella, Short Stature Syndrome Microtia, Absent Patellae, Micrognathia Syndrome MGORS1 Eps Ear-Patella-Short Stature Syndrome Ear Patella Short Stature Syndrome Microtia Absent Patellae Micrognathia Syndrome Meier-Gorlin Syndrome, Type 1
Spina Bifida Occulta
Klippel-Feil Syndrome 1
Spastic Paraplegia 17, Autosomal Dominant	Silver Syndrome SPG17 Silver Spastic Paraplegia Syndrome Spastic Paraplegia With Amyotrophy Of Hands And Feet Hereditary Spastic Paraplegia 17 Autosomal Dominant Spastic Paraplegia Type 17 Spastic Paraplegia 17 Spastic Paraplegia-Amyotrophy Of Hands And Feet Autosomal Dominant Spastic Paraplegia 17 Dhmn5b Distal Hereditary Motor Neuropathy Type 5b Paraplegia, Spastic, Autosomal Dominant, Type 17 Russell-Silver Syndrome Neuronopathy, Distal Hereditary Motor, Type Vb
Mulibrey Nanism	MUL Muscle-Liver-Brain-Eye Nanism Pericardial Constriction And Growth Failure Perheentupa Syndrome Mulibrey Growth Disorder Mulibrey Nanism Syndrome Pericardial Constriction With Growth Failure Nanism Mulibrey
Tibial Muscular Dystrophy	Tmd Udd Myopathy Distal Titinopathy Finnish Tibial Muscular Dystrophy Tardive Tibial Muscular Dystrophy Udd Type Distal Myopathy Udd Distal Myopathy Udd-Markesbery Muscular Dystrophy Distal Myopathy, Udd Type Distal Myopathies Tibial Muscular Dystrophy, Tardive
Skin Tag	Fibroepithelial Polyp Fibroepithelial Polyp Of Skin Soft Fibroma Skin Tags Cutaneous Tag Gardner Fibroma Acrochordon Fibroma Molle
Dubowitz Syndrome	Dubowitz'S Syndrome Dwarfism-Eczema-Peculiar Facies Syndrome Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09737	OBSL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	OBSL1	MGD	MGI:2138628
Felis catus	OBSL1	VGNC	VGNC:63944
Macaca mulatta	OBSL1	VGNC	VGNC:99390
Bos taurus	OBSL1	VGNC	VGNC:32395
Rattus norvegicus	OBSL1	RGD	RGD:1306073
Others	OBSL1	NCBI