OBSL1 - obscurin like cytoskeletal adaptor 1 Gene

Homo sapiens

Gene ID: 23363 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20133654	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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