Entity Details

Primary name REEP6_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96HR9
EntryNameREEP6_HUMAN
FullNameReceptor expression-enhancing protein 6
TaxID9606
Evidenceevidence at protein level
Length211
SequenceStatuscomplete
DateCreated2005-12-20
DateModified2021-06-02

Ontological Relatives

GenesREEP6

GO terms

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GOName
GO:0001917 photoreceptor inner segment
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0007029 endoplasmic reticulum organization
GO:0016021 integral component of membrane
GO:0030665 clathrin-coated vesicle membrane
GO:0032386 regulation of intracellular transport
GO:0050908 detection of light stimulus involved in visual perception

Subcellular Location

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Subcellular Location
Cytoplasmic vesicle
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR004345 TB2/DP1/HVA22-related proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
617304 OMIMRetinitis pigmentosa 77 (RP77)A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP77 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Interactions

53 interactions

InteractorPartnerSourcesPublicationsLink
REEP6_HUMANFHI1B_HUMANBioGRID, HPRD, IntAct16189514 25416956 details
REEP6_HUMANSNX15_HUMANBioGRID, IntAct, MINT21516116 25416956 31515488 32296183 details
REEP6_HUMANRS20_HUMANBioGRID, IntAct21988832 details
REEP6_HUMANSNX1_HUMANBioGRID, IntAct21516116 21988832 25416956 32296183 details
REEP6_HUMANSDCB1_HUMANBioGRID, IntAct25416956 32296183 details
REEP6_HUMANCOQ8A_HUMANBioGRID, IntAct25416956 25910212 31515488 32296183 details
REEP6_HUMANTNS2_HUMANBioGRID, IntAct25416956 details
REEP6_HUMANHMBX1_HUMANBioGRID, IntAct25416956 details
REEP6_HUMANLITAF_HUMANBioGRID, IntAct25416956 25910212 31515488 32296183 details
REEP6_HUMANTHIOM_HUMANBioGRID, IntAct25416956 32296183 details
REEP6_HUMANZFY21_HUMANBioGRID, IntAct25416956 32296183 details
REEP6_HUMANSPG21_HUMANBioGRID, IntAct25416956 31515488 32296183 details
REEP6_HUMANREEP6_HUMANBioGRID, IntAct25416956 details
REEP6_HUMANNDRG4_HUMANBioGRID, IntAct26871637 32296183 details
REEP6_HUMANAR6P1_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANWIPI2_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANTMED8_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANATP5J_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANCDC37_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANLNX1_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANECHP_HUMANIntAct32296183 details
REEP6_HUMANMYG1_HUMANIntAct32296183 details
REEP6_HUMANSNX12_HUMANIntAct32296183 details
REEP6_HUMANOCRL_HUMANIntAct32296183 details
REEP6_HUMANMID51_HUMANIntAct32296183 details
REEP6_HUMANDHB13_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANRETR3_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANTLCD4_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANCY561_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANGP152_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANSTING_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANTM143_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANCD79A_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANSYT16_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANSNX11_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANSNX8_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANCERT_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANMID49_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANPICK1_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANNTAQ1_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANPTN9_HUMANBioGRID, IntAct25416956 32296183 details
REEP6_HUMANKRA31_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANCXA8_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANLERL1_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANRCAS1_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANZNT8_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANTMPPE_HUMANBioGRID, IntAct32296183 details
REEP6_HUMANGORS2_HUMANBioGRID, IntAct29892012 details
REEP6_HUMANCCKN_HUMANIntAct32814053 details
REEP6_HUMANLAMP2_HUMANIntAct32814053 details
REEP6_HUMANSHLB1_HUMANIntAct32814053 details
REEP6_HUMANLMNA_HUMANBioGRID24623722 details
REEP6_HUMAN1433Z_HUMANMINT15161933 details