Entity Details

Primary name ERLN1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO75477
EntryNameERLN1_HUMAN
FullNameErlin-1
TaxID9606
Evidenceevidence at protein level
Length348
SequenceStatuscomplete
DateCreated2005-06-07
DateModified2021-06-02

Ontological Relatives

GenesERLIN1

GO terms

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GOName
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0008203 cholesterol metabolic process
GO:0015485 cholesterol binding
GO:0016021 integral component of membrane
GO:0030433 ubiquitin-dependent ERAD pathway
GO:0031625 ubiquitin protein ligase binding
GO:0032933 SREBP signaling pathway
GO:0032991 protein-containing complex
GO:0045541 negative regulation of cholesterol biosynthetic process
GO:0045717 negative regulation of fatty acid biosynthetic process
GO:0055085 transmembrane transport

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR001107 Band 7 domainDomainDomain
IPR033294 Erlin1/2FamilyFamily
IPR036013 Band 7/SPFH domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615681 OMIMSpastic paraplegia 62, autosomal recessive (SPG62)A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. The disease is caused by variants affecting the gene represented in this entry.