PROM1
Prominin-1
Also known as: AC133, CD133, CORD12, MCDR2, PROM1_HUMAN, PROML1, RP41, STGD4
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O43490
- Gene
- PROM1
- Ensembl
- ENSG00000007062
- Chromosome
- 4
- Canonical length
- 865 aa
- Protein class
- CD markers, Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Plasma membrane
OverviewNCBI Gene
This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Canonical amino-acid sequenceUniProt
865 residues, UniProt reviewed canonical sequence.
>O43490|PROM1
1 MALVLGSLLL LGLCGNSFSG GQPSSTDAPK AWNYELPATN YETQDSHKAG PIGILFELVH
61 IFLYVVQPRD FPEDTLRKFL QKAYESKIDY DKPETVILGL KIVYYEAGII LCCVLGLLFI
121 ILMPLVGYFF CMCRCCNKCG GEMHQRQKEN GPFLRKCFAI SLLVICIIIS IGIFYGFVAN
181 HQVRTRIKRS RKLADSNFKD LRTLLNETPE QIKYILAQYN TTKDKAFTDL NSINSVLGGG
241 ILDRLRPNII PVLDEIKSMA TAIKETKEAL ENMNSTLKSL HQQSTQLSSS LTSVKTSLRS
301 SLNDPLCLVH PSSETCNSIR LSLSQLNSNP ELRQLPPVDA ELDNVNNVLR TDLDGLVQQG
361 YQSLNDIPDR VQRQTTTVVA GIKRVLNSIG SDIDNVTQRL PIQDILSAFS VYVNNTESYI
421 HRNLPTLEEY DSYWWLGGLV ICSLLTLIVI FYYLGLLCGV CGYDRHATPT TRGCVSNTGG
481 VFLMVGVGLS FLFCWILMII VVLTFVFGAN VEKLICEPYT SKELFRVLDT PYLLNEDWEY
541 YLSGKLFNKS KMKLTFEQVY SDCKKNRGTY GTLHLQNSFN ISEHLNINEH TGSISSELES
601 LKVNLNIFLL GAAGRKNLQD FAACGIDRMN YDSYLAQTGK SPAGVNLLSF AYDLEAKANS
661 LPPGNLRNSL KRDAQTIKTI HQQRVLPIEQ SLSTLYQSVK ILQRTGNGLL ERVTRILASL
721 DFAQNFITNN TSSVIIEETK KYGRTIIGYF EHYLQWIEFS ISEKVASCKP VATALDTAVD
781 VFLCSYIIDP LNLFWFGIGK ATVFLLPALI FAVKLAKYYR RMDSEDVYDD VETIPMKNME
841 NGNNGYHKDH VYGIHNPVMT SPSQHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PROM1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 5
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 253 nTPM
Expression across tissuesHPA
Tissue
- retina: 253 nTPM
- salivary gland: 57 nTPM
- cervix: 42 nTPM
- gallbladder: 29 nTPM
- colon: 29 nTPM
- placenta: 28 nTPM
Single-cell type
- cone photoreceptor cells: 1,157 nCPM
- rod photoreceptor cells: 809 nCPM
- lacrimal acinar cells: 239 nCPM
- endometrial ciliated cells: 215 nCPM
- submucosal glandular cells: 210 nCPM
- salivary ionocytes: 196 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- thalamus: 10 nTPM
- midbrain: 8.6 nTPM
- amygdala: 7.9 nTPM
- medulla oblongata: 7.5 nTPM
- pons: 7 nTPM
- cerebral cortex: 6.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PROM1.
Disease | AllUniProt
Conditions PROM1 is implicated in, by any mechanism.
- Retinitis pigmentosa 41 (RP41) MIM:612095
- Cone-rod dystrophy 12 (CORD12) MIM:612657
- Stargardt disease 4 (STGD4) MIM:603786
- Macular dystrophy, retinal, 2 (MCDR2) MIM:608051
Disease | GeneticClinVar
155 pathogenic / likely-pathogenic of 1,173 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Retinal dystrophy
- Retinitis pigmentosa 41
- Cone-rod dystrophy 12
- Retinal macular dystrophy type 2
- Cone-rod dystrophy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.05
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.61
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- camera-type eye photoreceptor cell differentiation
- glomerular parietal epithelial cell differentiation
- photoreceptor cell maintenance
- podocyte differentiation
- positive regulation of nephron tubule epithelial cell differentiation
- retina layer formation
- retina morphogenesis in camera-type eye
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PROM1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PROM1 as an antibody target. Whether an autoantibody or antibody against PROM1 could matter depends on whether native PROM1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PROM1 is annotated at the cell surface, where native PROM1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label PROM1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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