Entity Details

Primary name LRP12_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y561
EntryNameLRP12_HUMAN
FullNameLow-density lipoprotein receptor-related protein 12
TaxID9606
Evidenceevidence at protein level
Length859
SequenceStatuscomplete
DateCreated2002-11-15
DateModified2021-06-02

Ontological Relatives

GenesLRP12

GO terms

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GOName
GO:0001764 neuron migration
GO:0005041 low-density lipoprotein particle receptor activity
GO:0005887 integral component of plasma membrane
GO:0005905 clathrin-coated pit
GO:0006897 endocytosis
GO:0007165 signal transduction
GO:0016021 integral component of membrane
GO:0031175 neuron projection development
GO:0040008 regulation of growth

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR000859 CUB domainDomainDomain
IPR002172 Low-density lipoprotein (LDL) receptor class A repeatRepeatRepeat
IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved siteSiteConserved site
IPR035914 Spermadhesin, CUB domain superfamilyFamilyHomologous superfamily
IPR036055 LDL receptor-like superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
164310 OMIMOculopharyngodistal myopathy 1 (OPDM1)A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM1 inheritance pattern is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. The causative mutation is a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the gene.

Interactions

6 interactions