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Protein

Prominin-1

Gene

PROM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • actinin binding Source: BHF-UCL
  • cadherin binding Source: BHF-UCL
  • cholesterol binding Source: GO_Central

GO - Biological processi

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O43490

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Prominin-1
Alternative name(s):
Antigen AC133
Prominin-like protein 1
CD_antigen: CD133
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PROM1
Synonyms:PROML1
ORF Names:MSTP061
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000007062.11

Human Gene Nomenclature Database

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HGNCi
HGNC:9454 PROM1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604365 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43490

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini20 – 108ExtracellularSequence analysisAdd BLAST89
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei109 – 129HelicalSequence analysisAdd BLAST21
Topological domaini130 – 157CytoplasmicSequence analysisAdd BLAST28
Transmembranei158 – 178HelicalSequence analysisAdd BLAST21
Topological domaini179 – 433ExtracellularSequence analysisAdd BLAST255
Transmembranei434 – 454HelicalSequence analysisAdd BLAST21
Topological domaini455 – 486CytoplasmicSequence analysisAdd BLAST32
Transmembranei487 – 507HelicalSequence analysisAdd BLAST21
Topological domaini508 – 792ExtracellularSequence analysisAdd BLAST285
Transmembranei793 – 813HelicalSequence analysisAdd BLAST21
Topological domaini814 – 865CytoplasmicSequence analysisAdd BLAST52

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Retinitis pigmentosa 41 (RP41)2 Publications
The disease is caused by mutations 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.
See also OMIM:612095
Cone-rod dystrophy 12 (CORD12)1 Publication
The disease is caused by mutations 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.
See also OMIM:612657
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_057961373R → 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 mutations 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.
See also OMIM:603786
Retinal macular dystrophy 2 (MCDR2)1 Publication
The disease is caused by mutations 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.
See also OMIM:608051

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi225K → Q: Loss of acetylation; when associated with Q-257 and Q-264. 1 Publication1
Mutagenesisi225K → R: Loss of expression of the protein in part due to proteasomal degradation; when associated with Q-257 and Q-264. 1 Publication1
Mutagenesisi257K → Q: Loss of acetylation; when associated with Q-225 and Q-264. 1 Publication1
Mutagenesisi257K → R: Loss of expression of the protein in part due to proteasomal degradation; when associated with Q-225 and Q-264. 1 Publication1
Mutagenesisi264K → Q: Loss of acetylation; when associated with Q-225 and Q-257. 1 Publication1
Mutagenesisi264K → R: Loss of expression of the protein in part due to proteasomal degradation; when associated with Q-225 and Q-257. 1 Publication1

Keywords - Diseasei

Cone-rod dystrophy, Disease mutation, Retinitis pigmentosa, Stargardt disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
8842

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
PROM1

MalaCards human disease database

More...
MalaCardsi
PROM1
MIMi603786 phenotype
608051 phenotype
612095 phenotype
612657 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000007062

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1872 Cone rod dystrophy
319640 Retinal macular dystrophy type 2
791 Retinitis pigmentosa
827 Stargardt disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33807

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PROM1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 19Sequence analysisAdd BLAST19
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002581320 – 865Prominin-1Add BLAST846

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi220N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei225N6-acetyllysine1 Publication1
Modified residuei257N6-acetyllysine1 Publication1
Modified residuei264N6-acetyllysine1 Publication1
Glycosylationi274N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi395N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi414N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi548N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi580N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi729N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi730N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei863PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O43490

MaxQB - The MaxQuant DataBase

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MaxQBi
O43490

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O43490

PeptideAtlas

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PeptideAtlasi
O43490

PRoteomics IDEntifications database

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PRIDEi
O43490

ProteomicsDB human proteome resource

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ProteomicsDBi
48967
48968 [O43490-2]
48969 [O43490-3]
48970 [O43490-4]
48971 [O43490-5]
48972 [O43490-6]
48973 [O43490-7]

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1642

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O43490

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O43490

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000007062 Expressed in 189 organ(s), highest expression level in bronchial epithelial cell

CleanEx database of gene expression profiles

More...
CleanExi
HS_PROM1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O43490 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O43490 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB011525
HPA004922
HPA031053

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CDHR1 and with actin filaments. Interacts with NAT8 and NAT8B.2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
Cdhr1Q8VHP63EBI-3447549,EBI-4395045From Mus musculus.

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114369, 6 interactors

Protein interaction database and analysis system

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IntActi
O43490, 4 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000415481

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O43490

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O43490

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the prominin family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4331 Eukaryota
ENOG410XRG0 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00530000063586

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000115704

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG053690

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O43490

KEGG Orthology (KO)

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KOi
K06532

Identification of Orthologs from Complete Genome Data

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OMAi
HLYGIHN

Database of Orthologous Groups

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OrthoDBi
EOG091G07PX

Database for complete collections of gene phylogenies

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PhylomeDBi
O43490

TreeFam database of animal gene trees

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TreeFami
TF324631

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR008795 Prominin

The PANTHER Classification System

More...
PANTHERi
PTHR22730 PTHR22730, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05478 Prominin, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 7 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:865
Mass (Da):97,202
Last modified:June 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD21CBC05ADB2DEDF
GO
Isoform 2 (identifier: O43490-2) [UniParc]FASTAAdd to basket
Also known as: AC133-2, S1

The sequence of this isoform differs from the canonical sequence as follows:
     92-100: Missing.

Show »
Length:856
Mass (Da):96,251
Checksum:iDFF0B7AFE0A02582
GO
Isoform 3 (identifier: O43490-3) [UniParc]FASTAAdd to basket
Also known as: S3

The sequence of this isoform differs from the canonical sequence as follows:
     93-101: Missing.
     831-839: VETIPMKNM → SSWVTSVQC
     840-865: Missing.

Show »
Length:830
Mass (Da):93,270
Checksum:i00784B26BE20782F
GO
Isoform 4 (identifier: O43490-4) [UniParc]FASTAAdd to basket
Also known as: S10

The sequence of this isoform differs from the canonical sequence as follows:
     93-101: Missing.
     839-861: Missing.

Show »
Length:833
Mass (Da):93,654
Checksum:iFB1AA693EBCAC598
GO
Isoform 5 (identifier: O43490-5) [UniParc]FASTAAdd to basket
Also known as: S7

The sequence of this isoform differs from the canonical sequence as follows:
     93-101: Missing.
     831-861: Missing.

Show »
Length:825
Mass (Da):92,741
Checksum:i735D8F41DA466FE8
GO
Isoform 6 (identifier: O43490-6) [UniParc]FASTAAdd to basket
Also known as: S11

The sequence of this isoform differs from the canonical sequence as follows:
     831-861: Missing.

Show »
Length:834
Mass (Da):93,692
Checksum:i2640B433DC3E9328
GO
Isoform 7 (identifier: O43490-7) [UniParc]FASTAAdd to basket
Also known as: S12

The sequence of this isoform differs from the canonical sequence as follows:
     839-861: Missing.

Show »
Length:842
Mass (Da):94,605
Checksum:i8B7B74818E26D76C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RIF3D6RIF3_HUMAN
Prominin-1
PROM1
57Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y9Q5H0Y9Q5_HUMAN
Prominin-1
PROM1
93Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y9D4H0Y9D4_HUMAN
Prominin-1
PROM1
65Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RBI0D6RBI0_HUMAN
Prominin-1
PROM1
40Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y9M7H0Y9M7_HUMAN
Prominin-1
PROM1
54Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RCC3D6RCC3_HUMAN
Prominin-1
PROM1
14Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti200D → A AA sequence (PubMed:9389721).Curated1
Sequence conflicti200D → P AA sequence (PubMed:9389721).Curated1
Sequence conflicti284S → D AA sequence (PubMed:9389721).Curated1
Sequence conflicti288S → R AA sequence (PubMed:9389721).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01038231A → G. 1
Natural variantiVAR_01038331A → S. 1
Natural variantiVAR_057961373R → C in CORD12, STGD4 and MCDR2; affects the interaction with actin. 1 PublicationCorresponds to variant dbSNP:rs137853006EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_03906992 – 100Missing in isoform 2. 4 Publications9
Alternative sequenceiVSP_04000093 – 101Missing in isoform 3, isoform 4 and isoform 5. 1 Publication9
Alternative sequenceiVSP_040001831 – 861Missing in isoform 5 and isoform 6. CuratedAdd BLAST31
Alternative sequenceiVSP_040002831 – 839VETIPMKNM → SSWVTSVQC in isoform 3. 1 Publication9
Alternative sequenceiVSP_040003839 – 861Missing in isoform 4 and isoform 7. CuratedAdd BLAST23
Alternative sequenceiVSP_040004840 – 865Missing in isoform 3. 1 PublicationAdd BLAST26

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF027208 mRNA Translation: AAB92514.1
AF507034 mRNA Translation: AAM33415.1
AY449689 mRNA Translation: AAS19705.1
AY449690 mRNA Translation: AAS19706.1
AY449691 mRNA Translation: AAS19707.1
AY449692 mRNA Translation: AAS19708.1
AY449693 mRNA Translation: AAS19709.1
AF117225 mRNA Translation: AAO15307.1
AK027422 mRNA Translation: BAG51317.1
AC005598 Genomic DNA No translation available.
AC108063 Genomic DNA No translation available.
CH471069 Genomic DNA Translation: EAW92750.1
BC012089 mRNA Translation: AAH12089.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47029.1 [O43490-1]
CCDS54746.1 [O43490-2]
CCDS54747.1 [O43490-6]
CCDS54748.1 [O43490-7]

Protein sequence database of the Protein Information Resource

More...
PIRi
T09050

NCBI Reference Sequences

More...
RefSeqi
NP_001139319.1, NM_001145847.1 [O43490-2]
NP_001139320.1, NM_001145848.1 [O43490-2]
NP_001139321.1, NM_001145849.1 [O43490-7]
NP_001139322.1, NM_001145850.1 [O43490-6]
NP_001139323.1, NM_001145851.1 [O43490-4]
NP_001139324.1, NM_001145852.1 [O43490-5]
NP_006008.1, NM_006017.2 [O43490-1]
XP_005248252.1, XM_005248195.4 [O43490-4]
XP_005248253.1, XM_005248196.4 [O43490-5]
XP_011512192.1, XM_011513890.1 [O43490-1]
XP_011512194.1, XM_011513892.2 [O43490-1]
XP_011512195.1, XM_011513893.2 [O43490-1]
XP_011512196.1, XM_011513894.2 [O43490-1]
XP_011512197.1, XM_011513895.2 [O43490-1]
XP_011512198.1, XM_011513896.2 [O43490-1]
XP_011512199.1, XM_011513897.2 [O43490-1]
XP_011512201.2, XM_011513899.2
XP_011512202.1, XM_011513900.2 [O43490-7]
XP_011512204.1, XM_011513902.2 [O43490-6]
XP_016864288.1, XM_017008799.1 [O43490-2]
XP_016864291.1, XM_017008802.1 [O43490-6]
XP_016864292.1, XM_017008803.1 [O43490-5]
XP_016864293.1, XM_017008804.1 [O43490-5]
XP_016864294.1, XM_017008805.1 [O43490-5]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.614734

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000447510; ENSP00000415481; ENSG00000007062 [O43490-1]
ENST00000505450; ENSP00000426090; ENSG00000007062 [O43490-2]
ENST00000508167; ENSP00000427346; ENSG00000007062 [O43490-2]
ENST00000510224; ENSP00000426809; ENSG00000007062 [O43490-1]
ENST00000539194; ENSP00000443620; ENSG00000007062 [O43490-6]
ENST00000540805; ENSP00000438045; ENSG00000007062 [O43490-7]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
8842

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:8842

UCSC genome browser

More...
UCSCi
uc003goo.2 human [O43490-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Mutations of the PROM1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF027208 mRNA Translation: AAB92514.1
AF507034 mRNA Translation: AAM33415.1
AY449689 mRNA Translation: AAS19705.1
AY449690 mRNA Translation: AAS19706.1
AY449691 mRNA Translation: AAS19707.1
AY449692 mRNA Translation: AAS19708.1
AY449693 mRNA Translation: AAS19709.1
AF117225 mRNA Translation: AAO15307.1
AK027422 mRNA Translation: BAG51317.1
AC005598 Genomic DNA No translation available.
AC108063 Genomic DNA No translation available.
CH471069 Genomic DNA Translation: EAW92750.1
BC012089 mRNA Translation: AAH12089.1
CCDSiCCDS47029.1 [O43490-1]
CCDS54746.1 [O43490-2]
CCDS54747.1 [O43490-6]
CCDS54748.1 [O43490-7]
PIRiT09050
RefSeqiNP_001139319.1, NM_001145847.1 [O43490-2]
NP_001139320.1, NM_001145848.1 [O43490-2]
NP_001139321.1, NM_001145849.1 [O43490-7]
NP_001139322.1, NM_001145850.1 [O43490-6]
NP_001139323.1, NM_001145851.1 [O43490-4]
NP_001139324.1, NM_001145852.1 [O43490-5]
NP_006008.1, NM_006017.2 [O43490-1]
XP_005248252.1, XM_005248195.4 [O43490-4]
XP_005248253.1, XM_005248196.4 [O43490-5]
XP_011512192.1, XM_011513890.1 [O43490-1]
XP_011512194.1, XM_011513892.2 [O43490-1]
XP_011512195.1, XM_011513893.2 [O43490-1]
XP_011512196.1, XM_011513894.2 [O43490-1]
XP_011512197.1, XM_011513895.2 [O43490-1]
XP_011512198.1, XM_011513896.2 [O43490-1]
XP_011512199.1, XM_011513897.2 [O43490-1]
XP_011512201.2, XM_011513899.2
XP_011512202.1, XM_011513900.2 [O43490-7]
XP_011512204.1, XM_011513902.2 [O43490-6]
XP_016864288.1, XM_017008799.1 [O43490-2]
XP_016864291.1, XM_017008802.1 [O43490-6]
XP_016864292.1, XM_017008803.1 [O43490-5]
XP_016864293.1, XM_017008804.1 [O43490-5]
XP_016864294.1, XM_017008805.1 [O43490-5]
UniGeneiHs.614734

3D structure databases

ProteinModelPortaliO43490
SMRiO43490
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114369, 6 interactors
IntActiO43490, 4 interactors
STRINGi9606.ENSP00000415481

PTM databases

GlyConnecti1642
iPTMnetiO43490
PhosphoSitePlusiO43490

Polymorphism and mutation databases

BioMutaiPROM1

Proteomic databases

EPDiO43490
MaxQBiO43490
PaxDbiO43490
PeptideAtlasiO43490
PRIDEiO43490
ProteomicsDBi48967
48968 [O43490-2]
48969 [O43490-3]
48970 [O43490-4]
48971 [O43490-5]
48972 [O43490-6]
48973 [O43490-7]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
8842
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000447510; ENSP00000415481; ENSG00000007062 [O43490-1]
ENST00000505450; ENSP00000426090; ENSG00000007062 [O43490-2]
ENST00000508167; ENSP00000427346; ENSG00000007062 [O43490-2]
ENST00000510224; ENSP00000426809; ENSG00000007062 [O43490-1]
ENST00000539194; ENSP00000443620; ENSG00000007062 [O43490-6]
ENST00000540805; ENSP00000438045; ENSG00000007062 [O43490-7]
GeneIDi8842
KEGGihsa:8842
UCSCiuc003goo.2 human [O43490-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
8842
DisGeNETi8842
EuPathDBiHostDB:ENSG00000007062.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PROM1
GeneReviewsiPROM1

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0004116
HGNCiHGNC:9454 PROM1
HPAiCAB011525
HPA004922
HPA031053
MalaCardsiPROM1
MIMi603786 phenotype
604365 gene
608051 phenotype
612095 phenotype
612657 phenotype
neXtProtiNX_O43490
OpenTargetsiENSG00000007062
Orphaneti1872 Cone rod dystrophy
319640 Retinal macular dystrophy type 2
791 Retinitis pigmentosa
827 Stargardt disease
PharmGKBiPA33807

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4331 Eukaryota
ENOG410XRG0 LUCA
GeneTreeiENSGT00530000063586
HOGENOMiHOG000115704
HOVERGENiHBG053690
InParanoidiO43490
KOiK06532
OMAiHLYGIHN
OrthoDBiEOG091G07PX
PhylomeDBiO43490
TreeFamiTF324631

Enzyme and pathway databases

SIGNORiO43490

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PROM1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CD133

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
8842

Protein Ontology

More...
PROi
PR:O43490

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000007062 Expressed in 189 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_PROM1
ExpressionAtlasiO43490 baseline and differential
GenevisibleiO43490 HS

Family and domain databases

InterProiView protein in InterPro
IPR008795 Prominin
PANTHERiPTHR22730 PTHR22730, 1 hit
PfamiView protein in Pfam
PF05478 Prominin, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPROM1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O43490
Secondary accession number(s): Q6SV49
, Q6SV50, Q6SV51, Q6SV52, Q6SV53, Q96EN6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: June 1, 1998
Last modified: November 7, 2018
This is version 167 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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