Entity Details

Primary name PROM1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO43490
EntryNamePROM1_HUMAN
FullNameProminin-1
TaxID9606
Evidenceevidence at protein level
Length865
SequenceStatuscomplete
DateCreated2001-02-21
DateModified2021-06-02

Ontological Relatives

GenesPROM1

GO terms

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GOName
GO:0001750 photoreceptor outer segment
GO:0005615 extracellular space
GO:0005783 endoplasmic reticulum
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005902 microvillus
GO:0005929 cilium
GO:0009986 cell surface
GO:0010842 retina layer formation
GO:0015485 cholesterol binding
GO:0016324 apical plasma membrane
GO:0031528 microvillus membrane
GO:0031982 vesicle
GO:0042622 photoreceptor outer segment membrane
GO:0042805 actinin binding
GO:0045296 cadherin binding
GO:0045494 photoreceptor cell maintenance
GO:0060042 retina morphogenesis in camera-type eye
GO:0060219 camera-type eye photoreceptor cell differentiation
GO:0070062 extracellular exosome
GO:0071914 prominosome
GO:0072112 glomerular visceral epithelial cell differentiation
GO:0072139 glomerular parietal epithelial cell differentiation
GO:2000768 positive regulation of nephron tubule epithelial cell differentiation

Subcellular Location

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Subcellular Location
Apical cell membrane
Cell projection
Endoplasmic reticulum
Endoplasmic reticulum-Golgi intermediate compartment

Domains

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DomainNameCategoryType
IPR008795 PromininFamilyFamily

Diseases

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Disease IDSourceNameDescription
612095 OMIMRetinitis pigmentosa 41 (RP41)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. The disease is caused by variants affecting the gene represented in this entry.
603786 OMIMStargardt disease 4 (STGD4)A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. The disease is caused by variants affecting the gene represented in this entry.
612657 OMIMCone-rod dystrophy 12 (CORD12)An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. The disease is caused by variants affecting the gene represented in this entry.
608051 OMIMRetinal macular dystrophy 2 (MCDR2)A bull's-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula. The disease is caused by variants affecting the gene represented in this entry.

Interactions

37 interactions

InteractorPartnerSourcesPublicationsLink
PROM1_HUMANPKHA5_HUMANBioGRID, IntAct20936779 details
PROM1_HUMANHDAC6_HUMANBioGRID, IntAct23084749 details
PROM1_HUMANYIPF6_HUMANIntAct23084749 details
PROM1_HUMANCYB5_HUMANIntAct23084749 details
PROM1_HUMANSERP1_HUMANIntAct23084749 details
PROM1_HUMANCD63_HUMANIntAct23084749 details
PROM1_HUMANTM230_HUMANIntAct23084749 details
PROM1_HUMANCCL2_HUMANIntAct23084749 details
PROM1_HUMANLPD6B_HUMANIntAct23084749 details
PROM1_HUMANBAP31_HUMANIntAct23084749 details
PROM1_HUMANTM165_HUMANIntAct23084749 details
PROM1_HUMANAIF1L_HUMANIntAct23084749 details
PROM1_HUMANVKOR1_HUMANIntAct23084749 details
PROM1_HUMANIFM1_HUMANIntAct23084749 details
PROM1_HUMANIFM3_HUMANIntAct23084749 details
PROM1_HUMANCC167_HUMANIntAct23084749 details
PROM1_HUMANGHITM_HUMANIntAct23084749 details
PROM1_HUMANSPCS1_HUMANIntAct23084749 details
PROM1_HUMANCXL14_HUMANIntAct23084749 details
PROM1_HUMANAT5G3_HUMANIntAct23084749 details
PROM1_HUMANELOV5_HUMANIntAct23084749 details
PROM1_HUMANAGRL2_HUMANIntAct23084749 details
PROM1_HUMANPLP2_HUMANIntAct23084749 details
PROM1_HUMANKTAP2_HUMANIntAct23084749 details
PROM1_HUMANCRUM3_HUMANIntAct23084749 details
PROM1_HUMANITM2B_HUMANIntAct23084749 details
PROM1_HUMANCLN5_HUMANIntAct23084749 details
PROM1_HUMANP85A_HUMANBioGRID23569237 details
PROM1_HUMANSRC_HUMANBioGRID23569237 details
PROM1_HUMANACTB_HUMANBioGRID, UniProt18654668 details
PROM1_HUMANEXOC1_HUMANIntAct31413325 details
PROM1_HUMANCCD63_HUMANIntAct23084749 details
PROM1_HUMANCDHR1_HUMANBioGRID18654668 details
PROM1_HUMANLAMP1_HUMANBioGRID29760280 details
PROM1_HUMANTS101_HUMANBioGRID29760280 30873590 details
PROM1_HUMANNEDD4_HUMANBioGRID29760280 details
PROM1_HUMANEEA1_HUMANBioGRID30873590 details