Entity Details

Primary name OBSL1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO75147
EntryNameOBSL1_HUMAN
FullNameObscurin-like protein 1
TaxID9606
Evidenceevidence at protein level
Length1896
SequenceStatuscomplete
DateCreated2006-08-22
DateModified2021-06-02

Ontological Relatives

GenesOBSL1

GO terms

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GOName
GO:0000226 microtubule cytoskeleton organization
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005829 cytosol
GO:0007010 cytoskeleton organization
GO:0007030 Golgi organization
GO:0007088 regulation of mitotic nuclear division
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0007416 synapse assembly
GO:0008093 cytoskeletal anchor activity
GO:0010842 retina layer formation
GO:0014704 intercalated disc
GO:0030018 Z disc
GO:0031430 M band
GO:0034067 protein localization to Golgi apparatus
GO:0043687 post-translational protein modification
GO:0045202 synapse
GO:0048471 perinuclear region of cytoplasm
GO:0050775 positive regulation of dendrite morphogenesis
GO:0055003 cardiac myofibril assembly
GO:1990393 3M complex

Subcellular Location

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Subcellular Location
Cytoplasm
Golgi apparatus

Domains

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DomainNameCategoryType
IPR003598 Immunoglobulin subtype 2DomainDomain
IPR003599 Immunoglobulin subtypeDomainDomain
IPR003961 Fibronectin type IIIDomainDomain
IPR007110 Immunoglobulin-like domainDomainDomain
IPR013098 Immunoglobulin I-setDomainDomain
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR036116 Fibronectin type III superfamilyFamilyHomologous superfamily
IPR036179 Immunoglobulin-like domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
612921 OMIM3M syndrome 2 (3M2)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. The disease is caused by variants affecting the gene represented in this entry.