Entity Details

Primary name RETR1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H6L5
EntryNameRETR1_HUMAN
FullNameReticulophagy regulator 1
TaxID9606
Evidenceevidence at protein level
Length497
SequenceStatuscomplete
DateCreated2007-05-29
DateModified2021-06-02

Ontological Relatives

GenesRETREG1

GO terms

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GOName
GO:0005730 nucleolus
GO:0005783 endoplasmic reticulum
GO:0005801 cis-Golgi network
GO:0016604 nuclear body
GO:0019233 sensory perception of pain
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0043524 negative regulation of neuron apoptotic process
GO:0061709 reticulophagy

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane
Golgi apparatus

Domains

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DomainNameCategoryType
IPR033358 Reticulophagy receptor 1FamilyFamily
IPR043384 Reticulophagy receptor 1/3FamilyFamily

Diseases

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Disease IDSourceNameDescription
613115 OMIMNeuropathy, hereditary sensory and autonomic, 2B (HSAN2B)A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2B is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation. Onset occurs in the first or second decade, with impaired nociception and progressive mutilating ulceration of the hands and feet with osteomyelitis and acroosteolysis. Amputations of the hands and feet are common. Autonomic dysfunction includes hyperhidrosis, urinary incontinence, and slow pupillary light response. The disease is caused by variants affecting the gene represented in this entry.