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Details on Person UniProt:O43490 PROM1
| Class:Id | ReferenceGeneProduct:61892 |
|---|---|
| _chainChangeLog | signal peptide:1-19 added on Fri February 6 2015;chain:20-865 added on Fri February 6 2015 |
| _displayName | UniProt:O43490 PROM1 |
| _timestamp | 2025-05-21 21:57:45 |
| chain | signal peptide:1-19 chain:20-865 |
| checksum | D21CBC05ADB2DEDF |
| comment | FUNCTION May play a role in cell differentiation, proliferation and apoptosis (PubMed:24556617). Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signaling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner (PubMed:20818439).SUBUNIT Interacts with CDHR1 and with actin filaments. Interacts with NAT8 and NAT8B.INTERACTION Found in extracellular membrane particles in various body fluids such as cerebrospinal fluid, saliva, seminal fluid and urine.ALTERNATIVE PRODUCTS Isoform 1 is selectively expressed on CD34 hematopoietic stem and progenitor cells in adult and fetal bone marrow, fetal liver, cord blood and adult peripheral blood. Isoform 1 is not detected on other blood cells. Isoform 1 is also expressed in a number of non-lymphoid tissues including retina, pancreas, placenta, kidney, liver, lung, brain and heart. Found in saliva within small membrane particles. Isoform 2 is predominantly expressed in fetal liver, skeletal muscle, kidney, and heart as well as adult pancreas, kidney, liver, lung, and placenta. Isoform 2 is highly expressed in fetal liver, low in bone marrow, and barely detectable in peripheral blood. Isoform 2 is expressed on hematopoietic stem cells and in epidermal basal cells (at protein level). Expressed in adult retina by rod and cone photoreceptor cells (at protein level).PTM Isoform 1 and isoform 2 are glycosylated.PTM Acetylation at Lys-225, Lys-257 and Lys-264 by NAT8 and NAT8B may control PROM1 protein expression and its function in cell apoptosis.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Is used as marker for hematopoietic stem and progenitor cells (HSPC) for somatic stem cell isolation.SIMILARITY Belongs to the prominin family. |
| description | recommendedName: Prominin-1 alternativeName: Antigen AC133 alternativeName: Prominin-like protein 1 cdAntigenNameCD133/cdAntigenName |
| geneName | PROM1 PROML1 MSTP061 |
| identifier | O43490 |
| isSequenceChanged | FALSE |
| keyword | Acetylation Alternative splicing Cell membrane Cell projection Cilium Cone-rod dystrophy Direct protein sequencing Disease variant Endoplasmic reticulum Glycoprotein Membrane Phosphoprotein Proteomics identification Reference proteome Retinitis pigmentosa Signal Stargardt disease Transmembrane Transmembrane helix |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21 |
| name | PROM1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8990340] ENSEMBL:ENSG00000007062 PROM1 [Homo sapiens] |
| secondaryIdentifier | PROM1_HUMAN Q6SV49 Q6SV50 Q6SV51 Q6SV52 Q6SV53 Q96EN6 |
| sequenceLength | 865 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:8966228] UniProt:O43490-1 PROM1 [Homo sapiens] [ReferenceIsoform:8966229] UniProt:O43490-2 PROM1 [Homo sapiens] [ReferenceIsoform:8966230] UniProt:O43490-3 PROM1 [Homo sapiens] [ReferenceIsoform:8966231] UniProt:O43490-4 PROM1 [Homo sapiens] [ReferenceIsoform:8966232] UniProt:O43490-5 PROM1 [Homo sapiens] [ReferenceIsoform:8966233] UniProt:O43490-6 PROM1 [Homo sapiens] [ReferenceIsoform:8966234] UniProt:O43490-7 PROM1 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:8867173] PROM1 [plasma membrane] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:O43490 PROM1 (61892)
