UniProtKB - O43490 (PROM1_HUMAN)
Protein
Prominin-1
Gene
PROM1
Organism
Homo sapiens (Human)
Status
Functioni
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).2 Publications
Miscellaneous
Is used as marker for hematopoietic stem and progenitor cells (HSPC) for somatic stem cell isolation.
GO - Molecular functioni
- actinin binding Source: BHF-UCL
- cadherin binding Source: BHF-UCL
- cholesterol binding Source: GO_Central
GO - Biological processi
- camera-type eye photoreceptor cell differentiation Source: BHF-UCL
- glomerular parietal epithelial cell differentiation Source: UniProtKB
- glomerular visceral epithelial cell differentiation Source: UniProtKB
- photoreceptor cell maintenance Source: BHF-UCL
- positive regulation of nephron tubule epithelial cell differentiation Source: UniProtKB
- retina layer formation Source: UniProtKB
- retina morphogenesis in camera-type eye Source: BHF-UCL
Enzyme and pathway databases
PathwayCommonsi | O43490 |
SIGNORi | O43490 |
Names & Taxonomyi
Protein namesi | Recommended name: Prominin-1Alternative name(s): Antigen AC133 Prominin-like protein 1 CD_antigen: CD133 |
Gene namesi | Name:PROM1 Synonyms:PROML1 ORF Names:MSTP061 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:9454, PROM1 |
MIMi | 604365, gene |
neXtProti | NX_O43490 |
VEuPathDBi | HostDB:ENSG00000007062.11 |
Subcellular locationi
Plasma membrane
- Apical cell membrane By similarity; Multi-pass membrane protein By similarity
- microvillus membrane By similarity; Multi-pass membrane protein By similarity
Endoplasmic reticulum
Other locations
Note: Found in extracellular membrane particles in various body fluids such as cerebrospinal fluid, saliva, seminal fluid and urine.
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular space Source: UniProtKB
- prominosome Source: GO_Central
Plasma Membrane
- apical plasma membrane Source: GO_Central
- integral component of plasma membrane Source: GO_Central
- microvillus membrane Source: UniProtKB-SubCell
- photoreceptor outer segment membrane Source: BHF-UCL
- plasma membrane Source: UniProtKB
Other locations
- cell surface Source: BHF-UCL
- cilium Source: GO_Central
- endoplasmic reticulum-Golgi intermediate compartment Source: UniProtKB
- microvillus Source: GO_Central
- photoreceptor outer segment Source: UniProtKB
- vesicle Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 20 – 108 | ExtracellularSequence analysisAdd BLAST | 89 | |
Transmembranei | 109 – 129 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 130 – 157 | CytoplasmicSequence analysisAdd BLAST | 28 | |
Transmembranei | 158 – 178 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 179 – 433 | ExtracellularSequence analysisAdd BLAST | 255 | |
Transmembranei | 434 – 454 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 455 – 486 | CytoplasmicSequence analysisAdd BLAST | 32 | |
Transmembranei | 487 – 507 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 508 – 792 | ExtracellularSequence analysisAdd BLAST | 285 | |
Transmembranei | 793 – 813 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 814 – 865 | CytoplasmicSequence analysisAdd BLAST | 52 |
Keywords - Cellular componenti
Cell membrane, Cell projection, Cilium, Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Retinitis pigmentosa 41 (RP41)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMCone-rod dystrophy 12 (CORD12)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_057961 | 373 | R → C in CORD12, STGD4 and MCDR2; affects the interaction with actin. 1 PublicationCorresponds to variant dbSNP:rs137853006EnsemblClinVar. | 1 |
Stargardt disease 4 (STGD4)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMRetinal macular dystrophy 2 (MCDR2)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA bull's-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_057961 | 373 | R → C in CORD12, STGD4 and MCDR2; affects the interaction with actin. 1 PublicationCorresponds to variant dbSNP:rs137853006EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 225 | K → Q: Loss of acetylation; when associated with Q-257 and Q-264. 1 Publication | 1 | |
Mutagenesisi | 225 | K → R: Loss of expression of the protein in part due to proteasomal degradation; when associated with Q-257 and Q-264. 1 Publication | 1 | |
Mutagenesisi | 257 | K → Q: Loss of acetylation; when associated with Q-225 and Q-264. 1 Publication | 1 | |
Mutagenesisi | 257 | K → R: Loss of expression of the protein in part due to proteasomal degradation; when associated with Q-225 and Q-264. 1 Publication | 1 | |
Mutagenesisi | 264 | K → Q: Loss of acetylation; when associated with Q-225 and Q-257. 1 Publication | 1 | |
Mutagenesisi | 264 | K → R: Loss of expression of the protein in part due to proteasomal degradation; when associated with Q-225 and Q-257. 1 Publication | 1 |
Keywords - Diseasei
Cone-rod dystrophy, Disease variant, Retinitis pigmentosa, Stargardt diseaseOrganism-specific databases
DisGeNETi | 8842 |
GeneReviewsi | PROM1 |
MalaCardsi | PROM1 |
MIMi | 603786, phenotype 608051, phenotype 612095, phenotype 612657, phenotype |
OpenTargetsi | ENSG00000007062 |
Orphaneti | 1872, Cone rod dystrophy 319640, Retinal macular dystrophy type 2 791, Retinitis pigmentosa 827, Stargardt disease |
PharmGKBi | PA33807 |
Miscellaneous databases
Pharosi | O43490, Tbio |
Genetic variation databases
BioMutai | PROM1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 19 | Sequence analysisAdd BLAST | 19 | |
ChainiPRO_0000025813 | 20 – 865 | Prominin-1Add BLAST | 846 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 220 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 225 | N6-acetyllysine1 Publication | 1 | |
Modified residuei | 257 | N6-acetyllysine1 Publication | 1 | |
Modified residuei | 264 | N6-acetyllysine1 Publication | 1 | |
Glycosylationi | 274 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 395 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 414 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 548 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 580 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 729 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 730 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 863 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Isoform 1 and isoform 2 are glycosylated.1 Publication
Acetylation at Lys-225, Lys-257 and Lys-264 by NAT8 and NAT8B may control PROM1 protein expression and its function in cell apoptosis.1 Publication
Keywords - PTMi
Acetylation, Glycoprotein, PhosphoproteinProteomic databases
jPOSTi | O43490 |
MassIVEi | O43490 |
MaxQBi | O43490 |
PaxDbi | O43490 |
PeptideAtlasi | O43490 |
PRIDEi | O43490 |
ProteomicsDBi | 48967 [O43490-1] 48968 [O43490-2] 48969 [O43490-3] 48970 [O43490-4] 48971 [O43490-5] 48972 [O43490-6] 48973 [O43490-7] |
PTM databases
GlyConnecti | 1642, 16 N-Linked glycans (2 sites) |
GlyGeni | O43490, 8 sites |
iPTMneti | O43490 |
PhosphoSitePlusi | O43490 |
Expressioni
Tissue specificityi
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).2 Publications
Gene expression databases
Bgeei | ENSG00000007062, Expressed in bronchial epithelial cell and 203 other tissues |
ExpressionAtlasi | O43490, baseline and differential |
Genevisiblei | O43490, HS |
Organism-specific databases
HPAi | ENSG00000007062, Tissue enhanced (retina, salivary gland) |
Interactioni
Subunit structurei
Interacts with CDHR1 and with actin filaments.
Interacts with NAT8 and NAT8B.
2 PublicationsBinary interactionsi
Hide detailsO43490
With | #Exp. | IntAct |
---|---|---|
HDAC6 [Q9UBN7] | 4 | EBI-3447549,EBI-301697 |
Cdhr1 [Q8VHP6] from Mus musculus. | 3 | EBI-3447549,EBI-4395045 |
Isoform 2 [O43490-2]
With | #Exp. | IntAct |
---|---|---|
HDAC6 [Q9UBN7] | 2 | EBI-21452032,EBI-301697 |
GO - Molecular functioni
- actinin binding Source: BHF-UCL
- cadherin binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 114369, 14 interactors |
IntActi | O43490, 34 interactors |
STRINGi | 9606.ENSP00000426809 |
Miscellaneous databases
RNActi | O43490, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the prominin family.Curated
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4331, Eukaryota |
GeneTreei | ENSGT00530000063586 |
HOGENOMi | CLU_008293_0_0_1 |
InParanoidi | O43490 |
OMAi | TVPMKNM |
OrthoDBi | 1129032at2759 |
PhylomeDBi | O43490 |
TreeFami | TF324631 |
Family and domain databases
InterProi | View protein in InterPro IPR008795, Prominin |
PANTHERi | PTHR22730, PTHR22730, 1 hit |
Pfami | View protein in Pfam PF05478, Prominin, 1 hit |
s (7+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 7 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 7 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: O43490-1) [UniParc]FASTAAdd to basket
Also known as: AC133-1, S2
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MALVLGSLLL LGLCGNSFSG GQPSSTDAPK AWNYELPATN YETQDSHKAG
60 70 80 90 100
PIGILFELVH IFLYVVQPRD FPEDTLRKFL QKAYESKIDY DKPETVILGL
110 120 130 140 150
KIVYYEAGII LCCVLGLLFI ILMPLVGYFF CMCRCCNKCG GEMHQRQKEN
160 170 180 190 200
GPFLRKCFAI SLLVICIIIS IGIFYGFVAN HQVRTRIKRS RKLADSNFKD
210 220 230 240 250
LRTLLNETPE QIKYILAQYN TTKDKAFTDL NSINSVLGGG ILDRLRPNII
260 270 280 290 300
PVLDEIKSMA TAIKETKEAL ENMNSTLKSL HQQSTQLSSS LTSVKTSLRS
310 320 330 340 350
SLNDPLCLVH PSSETCNSIR LSLSQLNSNP ELRQLPPVDA ELDNVNNVLR
360 370 380 390 400
TDLDGLVQQG YQSLNDIPDR VQRQTTTVVA GIKRVLNSIG SDIDNVTQRL
410 420 430 440 450
PIQDILSAFS VYVNNTESYI HRNLPTLEEY DSYWWLGGLV ICSLLTLIVI
460 470 480 490 500
FYYLGLLCGV CGYDRHATPT TRGCVSNTGG VFLMVGVGLS FLFCWILMII
510 520 530 540 550
VVLTFVFGAN VEKLICEPYT SKELFRVLDT PYLLNEDWEY YLSGKLFNKS
560 570 580 590 600
KMKLTFEQVY SDCKKNRGTY GTLHLQNSFN ISEHLNINEH TGSISSELES
610 620 630 640 650
LKVNLNIFLL GAAGRKNLQD FAACGIDRMN YDSYLAQTGK SPAGVNLLSF
660 670 680 690 700
AYDLEAKANS LPPGNLRNSL KRDAQTIKTI HQQRVLPIEQ SLSTLYQSVK
710 720 730 740 750
ILQRTGNGLL ERVTRILASL DFAQNFITNN TSSVIIEETK KYGRTIIGYF
760 770 780 790 800
EHYLQWIEFS ISEKVASCKP VATALDTAVD VFLCSYIIDP LNLFWFGIGK
810 820 830 840 850
ATVFLLPALI FAVKLAKYYR RMDSEDVYDD VETIPMKNME NGNNGYHKDH
860
VYGIHNPVMT SPSQH
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0Y9Q5 | H0Y9Q5_HUMAN | Prominin-1 | PROM1 | 77 | Annotation score: | ||
D6RIF3 | D6RIF3_HUMAN | Prominin-1 | PROM1 | 57 | Annotation score: | ||
H0Y9D4 | H0Y9D4_HUMAN | Prominin-1 | PROM1 | 65 | Annotation score: | ||
D6RBI0 | D6RBI0_HUMAN | Prominin-1 | PROM1 | 40 | Annotation score: | ||
H0Y9M7 | H0Y9M7_HUMAN | Prominin-1 | PROM1 | 54 | Annotation score: | ||
D6RCC3 | D6RCC3_HUMAN | Prominin-1 | PROM1 | 14 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 200 | D → A AA sequence (PubMed:9389721).Curated | 1 | |
Sequence conflicti | 200 | D → P AA sequence (PubMed:9389721).Curated | 1 | |
Sequence conflicti | 284 | S → D AA sequence (PubMed:9389721).Curated | 1 | |
Sequence conflicti | 288 | S → R AA sequence (PubMed:9389721).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010382 | 31 | A → G. | 1 | |
Natural variantiVAR_010383 | 31 | A → S. | 1 | |
Natural variantiVAR_057961 | 373 | R → C in CORD12, STGD4 and MCDR2; affects the interaction with actin. 1 PublicationCorresponds to variant dbSNP:rs137853006EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_039069 | 92 – 100 | Missing in isoform 2. 4 Publications | 9 | |
Alternative sequenceiVSP_040000 | 93 – 101 | Missing in isoform 3, isoform 4 and isoform 5. 1 Publication | 9 | |
Alternative sequenceiVSP_040001 | 831 – 861 | Missing in isoform 5 and isoform 6. CuratedAdd BLAST | 31 | |
Alternative sequenceiVSP_040002 | 831 – 839 | VETIPMKNM → SSWVTSVQC in isoform 3. 1 Publication | 9 | |
Alternative sequenceiVSP_040003 | 839 – 861 | Missing in isoform 4 and isoform 7. CuratedAdd BLAST | 23 | |
Alternative sequenceiVSP_040004 | 840 – 865 | Missing in isoform 3. 1 PublicationAdd BLAST | 26 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Mutations of the PROM1 gene Retina International's Scientific Newsletter |
Sequence databases
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 114369, 14 interactors |
IntActi | O43490, 34 interactors |
STRINGi | 9606.ENSP00000426809 |
PTM databases
GlyConnecti | 1642, 16 N-Linked glycans (2 sites) |
GlyGeni | O43490, 8 sites |
iPTMneti | O43490 |
PhosphoSitePlusi | O43490 |
Genetic variation databases
BioMutai | PROM1 |
Proteomic databases
jPOSTi | O43490 |
MassIVEi | O43490 |
MaxQBi | O43490 |
PaxDbi | O43490 |
PeptideAtlasi | O43490 |
PRIDEi | O43490 |
ProteomicsDBi | 48967 [O43490-1] 48968 [O43490-2] 48969 [O43490-3] 48970 [O43490-4] 48971 [O43490-5] 48972 [O43490-6] 48973 [O43490-7] |
Protocols and materials databases
ABCDi | O43490, 11 sequenced antibodies |
Antibodypediai | 1554, 634 antibodies |
DNASUi | 8842 |
Genome annotation databases
Organism-specific databases
CTDi | 8842 |
DisGeNETi | 8842 |
GeneCardsi | PROM1 |
GeneReviewsi | PROM1 |
HGNCi | HGNC:9454, PROM1 |
HPAi | ENSG00000007062, Tissue enhanced (retina, salivary gland) |
MalaCardsi | PROM1 |
MIMi | 603786, phenotype 604365, gene 608051, phenotype 612095, phenotype 612657, phenotype |
neXtProti | NX_O43490 |
OpenTargetsi | ENSG00000007062 |
Orphaneti | 1872, Cone rod dystrophy 319640, Retinal macular dystrophy type 2 791, Retinitis pigmentosa 827, Stargardt disease |
PharmGKBi | PA33807 |
VEuPathDBi | HostDB:ENSG00000007062.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4331, Eukaryota |
GeneTreei | ENSGT00530000063586 |
HOGENOMi | CLU_008293_0_0_1 |
InParanoidi | O43490 |
OMAi | TVPMKNM |
OrthoDBi | 1129032at2759 |
PhylomeDBi | O43490 |
TreeFami | TF324631 |
Enzyme and pathway databases
PathwayCommonsi | O43490 |
SIGNORi | O43490 |
Miscellaneous databases
BioGRID-ORCSi | 8842, 6 hits in 873 CRISPR screens |
ChiTaRSi | PROM1, human |
GeneWikii | CD133 |
GenomeRNAii | 8842 |
Pharosi | O43490, Tbio |
PROi | PR:O43490 |
RNActi | O43490, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000007062, Expressed in bronchial epithelial cell and 203 other tissues |
ExpressionAtlasi | O43490, baseline and differential |
Genevisiblei | O43490, HS |
Family and domain databases
InterProi | View protein in InterPro IPR008795, Prominin |
PANTHERi | PTHR22730, PTHR22730, 1 hit |
Pfami | View protein in Pfam PF05478, Prominin, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PROM1_HUMAN | |
Accessioni | O43490Primary (citable) accession number: O43490 Secondary accession number(s): Q6SV49 Q96EN6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 21, 2001 |
Last sequence update: | June 1, 1998 | |
Last modified: | February 10, 2021 | |
This is version 183 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human cell differentiation molecules
CD nomenclature of surface proteins of human leucocytes and list of entries