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PROM1 Gene

protein-coding   GIFtS: 62
GCID: GC04M015965

Prominin 1

(Previous names: prominin (mouse)-like 1, macular dystrophy, retinal 2, Stargardt...)
(Previous symbols: PROML1, MCDR2, STGD4)
  See PROM1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Prominin 11 2     RP412 5
PROML11 2 3 5     Macular Dystrophy, Retinal 21
MCDR21 2 5     Prominin (Mouse)-Like 11
STGD41 2 5     Stargardt Disease 4 (Autosomal Dominant)1
Antigen AC1332 3     hProminin2
Prominin-Like Protein 12 3     Hematopoietic Stem Cell Antigen2
AC1332 5     prominin-12
CD1332 5     CD133 Antigen3
CORD122 5     

External Ids:    HGNC: 94541   Entrez Gene: 88422   Ensembl: ENSG000000070627   OMIM: 6043655   UniProtKB: O434903   

Export aliases for PROM1 gene to outside databases

Previous GC identifers: GC04M015912 GC04M015658 GC04M015720 GC04M015646 GC04M015578 GC04M015320


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PROM1 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)

GeneCards Summary for PROM1 Gene:
PROM1 (prominin 1) is a protein-coding gene. Diseases associated with PROM1 include prom1-related retinitis pigmentosa, and macular dystrophy, retinal, 2. GO annotations related to this gene include actinin binding and cadherin binding. An important paralog of this gene is PROM2.

UniProtKB/Swiss-Prot: PROM1_HUMAN, O43490
Function: Binds cholesterol in cholesterol-containing plasma membrane microdomains. Proposed to play a role in
apical plasma membrane organization of 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

Gene Wiki entry for PROM1 (CD133) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_006316.17  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PROM1 gene promoter:
         STAT5B   Pax-5   p53   Lmo2   STAT5A   MZF-1   MEF-2A   ARP-1   aMEF-2   ATF6   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for PROM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PROM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p15.32   Ensembl cytogenetic band:  4p15.32   HGNC cytogenetic band: 4p15

PROM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PROM1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M015965:  view genomic region     (about GC identifiers)

Start:
15,964,699 bp from pter      End:
16,086,001 bp from pter
Size:
121,303 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PROM1_HUMAN, O43490 (See protein sequence)
Recommended Name: Prominin-1 precursor  
Size: 865 amino acids; 97202 Da
Subunit: Interacts with CDHR1 and with actin filaments
Miscellaneous: Is used as marker for hematopoietic stem and progenitor cells (HSPC) for somatic stem cell
isolation
Secondary accessions: Q6SV49 Q6SV50 Q6SV51 Q6SV52 Q6SV53 Q96EN6
Alternative splicing: 7 isoforms:  O43490-1   O43490-2   O43490-3   O43490-4   O43490-5   O43490-6   O43490-7   

Explore the universe of human proteins at neXtProt for PROM1: NX_O43490

Explore proteomics data for PROM1 at MOPED

Post-translational modifications: 

  • Isoform 1 and isoform 2 are glycosylated1
  • Glycosylation2 at Asn220, Asn274, Asn395, Asn414, Asn548, Asn580, Asn729, Asn730
  • Modification sites at PhosphoSitePlus

  • See PROM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_001139319.1  NP_001139320.1  NP_001139321.1  NP_001139322.1  NP_001139323.1  NP_001139324.1  NP_006008.1  

    ENSEMBL proteins: 
     ENSP00000423860   ENSP00000426090   ENSP00000427346   ENSP00000426809   ENSP00000424738  
     ENSP00000424569   ENSP00000425927   ENSP00000422704   ENSP00000423793   ENSP00000415481  
     ENSP00000438045   ENSP00000443620   ENSP00000445526  

    PROM1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for PROM1
    OriGene Protein Over-expression Lysate for PROM1
    OriGene MassSpec for PROM1
    OriGene Custom Protein Services for PROM1
    GenScript Custom Purified and Recombinant Proteins Services for PROM1
    Novus Biologicals PROM1 Proteins
    Sino Biological Recombinant Protein for PROM1
    Sino Biological Cell Lysate for PROM1
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PROM1

     
    Search eBioscience for Proteins for PROM1 

    PROM1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PROM1
    Browse R&D Systems for Antibodies
    OriGene Antibodies for PROM1
    OriGene Custom Antibody Services for PROM1
    Search for Antibodies for PROM1 at Abcam
    Cloud-Clone Corp. Antibodies for PROM1
    ThermoFisher Antibodies for PROM1
    Search LSBio for Antibodies for PROM1

    PROM1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PROM1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PROM1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PROM1
    Cloud-Clone Corp. CLIAs for PROM1
    Search eBioscience for ELISAs for PROM1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules

    1 InterPro protein domain:
     IPR008795 Prominin

    Graphical View of Domain Structure for InterPro Entry O43490

    ProtoNet protein and cluster: O43490

    1 Blocks protein domain: IPB008795 Prominin

    UniProtKB/Swiss-Prot: PROM1_HUMAN, O43490
    Similarity: Belongs to the prominin family


    Find genes that share domains with PROM1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PROM1_HUMAN, O43490
    Function: Binds cholesterol in cholesterol-containing plasma membrane microdomains. Proposed to play a role in
    apical plasma membrane organization of 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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18654668
    GO:0042805actinin binding IDA18654668
    GO:0045296cadherin binding IPI18654668
         
    Find genes that share ontologies with PROM1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PROM1:
     Synthetic lethal with Ras 

         11 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Prom1):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  mortality/aging 
     nervous system  no phenotypic analysis  normal  pigmentation  tumorigenesis 
     vision/eye 

    Find genes that share phenotypes with PROM1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Prom1tm1Pec for PROM1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PROM1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PROM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PROM1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PROM1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PROM1:
    hsa-mir-142-3p (MIRT021645)

    Block miRNA regulation of human, mouse, rat PROM1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PROM1 (see all 20):
    hsa-miR-579 hsa-miR-30c hsa-miR-142-3p hsa-miR-548j hsa-miR-548i hsa-miR-30d hsa-miR-30a hsa-miR-548d-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PROM1
    Predesigned siRNA for gene silencing in human, mouse, rat PROM1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PROM1

    Clone
    Products:
         
    OriGene clones in human, mouse for PROM1 (see all 46)
    OriGene ORF clones in mouse, rat for PROM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 7): PROM1 (NM_006017)
    Sino Biological Human cDNA Clone for PROM1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PROM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PROM1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for PROM1
    Browse ESI BIO Cell Lines and PureStem Progenitors for PROM1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PROM1

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-10400 VA6-13566) for PROM1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PROM1_HUMAN, O43490: Cell projection, cilium, photoreceptor outer segment (By similarity)
    PROM1_HUMAN, O43490: Isoform 1: Apical cell membrane; Multi-pass membrane protein (By similarity). Cell
    projection, microvillus membrane; Multi-pass membrane protein (By similarity). Note=Found in extracellular
    membrane particles in various body fluids such as cerebrospinal fluid, saliva, seminal fluid and urine
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton3
    extracellular2
    nucleus2
    cytosol1
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment ISS--
    GO:0005615extracellular space IEA--
    GO:0005886plasma membrane IDA12042327
    GO:0005887integral component of plasma membrane IEA--
    GO:0005902microvillus ----

    Find genes that share ontologies with PROM1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PROM1 About    
    See pathways by source

    SuperPathContained pathways About
    1Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer


    Find genes that share SuperPaths with PROM1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for PROM1):
        Transcriptional misregulation in cancer

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PROM1: 
              Cell Lineage Identification in human mouse rat
              Mesenchymal Stem Cell in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PROM1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for PROM1 (O434901, 3 ENSP000004154814) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLEKHA5Q9HAU03, ENSP000002992754I2D: score=3 STRING: ENSP00000299275
    DLX4Q929883I2D: score=1 
    ACTBENSP000003499604STRING: ENSP00000349960
    CDHR1ENSP000003611894STRING: ENSP00000361189
    RHOXF2ENSP000003604414STRING: ENSP00000360441
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010842retina layer formation ISS--
    GO:0045494photoreceptor cell maintenance IMP18654668
    GO:0060042retina morphogenesis in camera-type eye IMP18654668
    GO:0060219camera-type eye photoreceptor cell differentiation ISS--
    GO:0072112glomerular visceral epithelial cell differentiation IMP19092120

    Find genes that share ontologies with PROM1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PROM1

    1 Novoseek inferred chemical compound relationship for PROM1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 0 2 15231568 (2)



    Find genes that share compounds with PROM1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PROM1 gene (7 alternative transcripts): 
    NM_001145847.1  NM_001145848.1  NM_001145849.1  NM_001145850.1  NM_001145851.1  NM_001145852.1  NM_006017.2  

    Unigene Cluster for PROM1:

    Prominin 1
    Hs.614734  [show with all ESTs]
    Unigene Representative Sequence: NM_001145847
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000503884 ENST00000505450(uc003goq.3) ENST00000513448 ENST00000508167(uc003gop.2)
    ENST00000510224 ENST00000513946 ENST00000511270 ENST00000511153 ENST00000502943
    ENST00000508322 ENST00000508940 ENST00000514967 ENST00000504842 ENST00000513108
    ENST00000502501 ENST00000514693 ENST00000512304 ENST00000447510(uc003goo.2)

    miRNA
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    Block miRNA regulation of human, mouse, rat PROM1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PROM1 (see all 20):
    hsa-miR-579 hsa-miR-30c hsa-miR-142-3p hsa-miR-548j hsa-miR-548i hsa-miR-30d hsa-miR-30a hsa-miR-548d-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PROM1
    Clone
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    OriGene clones in human, mouse for PROM1 (see all 46)
    OriGene ORF clones in mouse, rat for PROM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 7): PROM1 (NM_006017)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PROM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PROM1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PROM1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PROM1
      QuantiTect SYBR Green Assays in human, mouse, rat PROM1
      Search QuantiFast Probe-based Assays in human, mouse, rat PROM1
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-10400 VA6-13566) for PROM1 

    Additional mRNA sequence: 

    AF027208.1 AF117225.1 AF507034.1 AK025124.1 AK025391.1 AK027420.1 AK027422.1 AK075411.1 
    AK226033.1 AK310415.1 AK314529.1 AK315889.1 AY449690.1 AY449691.1 AY449692.1 AY449693.1 
    BC012089.1 BX538056.1 

    16 DOTS entries:

    DT.95162753  DT.91683665  DT.97842359  DT.99978233  DT.121252067  DT.121252071  DT.102831809  DT.121252068 
    DT.95162750  DT.99991078  DT.120843723  DT.121252031  DT.121252040  DT.95195076  DT.121252062  DT.91794662 

    Selected AceView cDNA sequences (see all 104):

    AY449691 BC012089 AY449693 AY449690 AU133399 AY449692 AF507034 NM_006017 
    BM721966 BM981395 BQ420670 AU124416 CB153460 AF027208 AF117225 BU164795 
    BM972273 AW850998 BE813645 AW028039 BM855910 BG468504 BQ637329 AY449689 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PROM1 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
    SP1:                          -           -                                                                                                                     
    SP2:                          -           -     -                                                                                                               
    SP3:                                            -                                                                                                               
    SP4:                                                                                -     -                                                                     
    SP5:                                      -     -                                                                                                               

    ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
    SP1:                                                            
    SP2:                                                            
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for PROM1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PROM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCAGATTGC
    PROM1 Expression
    About this image


    PROM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 18 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Umbilical cord blood-derived CD133+ cells
             Enriched erythrocyte-like cells
     
     Endothelium (Cardiovascular System)    fully expand to see all 9 entries
             Adult Endothelial Cells Blood Brain Barrier
             Peripheral blood-derived endothelial progenitor cells (family)
             Endothelial-like cells
     
     Bone (Muscoskeletal System)    fully expand to see all 6 entries
             Zeugopod Growth Plate
             Bone marrow-derived mesenchymal stem cells
     
     Mesenchymal Stem Cells
             Bone Marrow Stromal Cells Pelvic Girdle
             Placenta-derived mesenchymal stem cells
             Mesenchymal-like stem cells
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 10 entries
             Line H7 (WA07)
    PROM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PROM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.614734

    UniProtKB/Swiss-Prot: PROM1_HUMAN, O43490
    Tissue specificity: 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)

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PROM1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prom11 , 5 prominin 11, 5 71.23(n)1
    60.8(a)1
      5 (23.97 cM)5
    191261  NM_001163577.11  NP_001157049.11 
     439936225 
    chicken
    (Gallus gallus)
    Aves PROM11 prominin 1 63.5(n)
    53.03(a)
      422825  XM_004936155.1  XP_004936212.1 
    lizard
    (Anolis carolinensis)
    Reptilia PROM16
    prominin 1
    51(a)
    1 ↔ 1
    4(123804030-123924335)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia prom11 prominin 1 60.86(n)
    51.31(a)
      100036621  NM_001097180.2  NP_001090649.2 
    zebrafish
    (Danio rerio)
    Actinopterygii BC064704.12   -- 71.23(n)   378834  BC064704.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta prom6
    prominin
    12(a)
    1 → many
    2R(20302931-20315910)
    worm
    (Caenorhabditis elegans)
    Secernentea F08B12.11 F08B12.1 40.37(n)
    23.78(a)
      181330  NM_077506.3  NP_509907.1 


    ENSEMBL Gene Tree for PROM1 (if available)
    TreeFam Gene Tree for PROM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PROM1 gene
    PROM22  
    1 SIMAP similar gene for PROM1 using alignment to 7 protein entries:     PROM1_HUMAN (see all proteins):
    PROM2

    Find genes that share paralogs with PROM1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PROM1 (see all 2792)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0579614
    Stargardt disease 4 (STGD4)4--see VAR_0579612 R C mis40--------
    rs1378530051,2
    Cpathogenic115935414(-) ACCTGA/C/TAGAAC 14 Q * stg10--------
    rs557083181,2
    C,Funtested115933782(+) GCTGCG/AAAAAA 7 -- int12Minor allele frequency- A:0.04NA EU 707
    rs1378539071,2
    Cuntested115941899(-) CCTTAA/CACGAG 14 * Y stg10--------
    rs1130044611,2
    C--15328411(+) CTTGCGT/-ATCTC 7 -- int11Minor allele frequency- -:0.50CSA 2
    rs1996375911,2
    --15356086(+) TTCTT-/TCTTTCT 7 -- int10--------
    rs340546301,2
    C--15365204(+) AAACG-/AAAAAA 7 -- int12Minor allele frequency- A:0.25NA CSA 4
    rs339528461,2
    C--15377739(+) GAACTA/-AAGTT 7 -- int12Minor allele frequency- -:0.00NA 4
    rs339880411,2
    C--15379955(+) GTCAAT/-TATTA 7 -- int12Minor allele frequency- -:0.00NA 4
    rs1914321631,2
    --15909381(+) TGCCTA/GTAGTT 7 -- ds50010--------

    HapMap Linkage Disequilibrium report for PROM1 (15964699 - 16086001 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PROM1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv527202CNV Loss19592680
    nsv461281CNV Loss19166990
    nsv527861CNV Gain19592680

    Human Gene Mutation Database (HGMD): PROM1
    Locus Specific Mutation Databases (LSDB): PROM1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604365   
    OMIM disorders: 612095  612657  603786  608051  
    UniProtKB/Swiss-Prot: PROM1_HUMAN, O43490
  • Retinitis pigmentosa 41 (RP41) [MIM:612095]: 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Cone-rod dystrophy 12 (CORD12) [MIM:612657]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Stargardt disease 4 (STGD4) [MIM:603786]: 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Retinal macular dystrophy 2 (MCDR2) [MIM:608051]: A bull's-eye macular dystrophy characterized by
    bilateral annular atrophy of retinal pigment epithelium at the macula. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 11 diseases for PROM1:    
    About MalaCards
    prom1-related retinitis pigmentosa    macular dystrophy, retinal, 2    retinitis pigmentosa 41    cone-rod dystrophy 12
    stargardt disease 4    stargardt disease    cholangiolocellular carcinoma    malignant germ cell tumor
    macular dystrophy    cone-rod dystrophy 2    leber congenital amaurosis

    7 diseases from the University of Copenhagen DISEASES database for PROM1:
    Malignant glioma     Colorectal cancer     Brain cancer     Medulloblastoma
    Vascular disease     Myocardial infarction     Hepatocellular carcinoma

    Find genes that share disorders with PROM1           About GenesLikeMe

    8 Novoseek inferred disease relationships for PROM1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 38.6 47 19738050 (5), 19296573 (2), 18802032 (2), 20196115 (2) (see all 20)
    acute leukemia 38.2 13 11489469 (5), 11224484 (3), 15355691 (2)
    retinal degeneration 35.4 4 10587575 (2), 17109118 (1), 12514187 (1)
    tumors 30.9 24 19659474 (5), 20346143 (4), 20068153 (3), 18261235 (2) (see all 11)
    lymphoblastic leukemia acute 30.1 2 11489469 (1), 10438201 (1)
    prostate cancer 20.3 4 17409422 (2), 20407603 (2)
    leukemia 10.2 18 11489469 (4), 18393293 (1), 11224484 (1), 9389721 (1)
    retinoblastoma 4.57 1 10587575 (1)

    Genetic Association Database (GAD): PROM1
    Human Genome Epidemiology (HuGE) Navigator: PROM1 (2 documents)

    Export disorders for PROM1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PROM1 gene, integrated from 10 sources (see all 400):
    (articles sorted by number of sources associating them with PROM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Nomenclature of prominin-1 (CD133) splice variants - an update. (PubMed id 17498271)1, 2, 9 Fargeas C.A.... Corbeil D. (Tissue Antigens 2007)
    2. A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. (PubMed id 10587575)1, 2, 9 Maw M.A.... Denton M.J. (Hum. Mol. Genet. 2000)
    3. Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. (PubMed id 18654668)1, 2, 9 Yang Z.... Zhang K. (J. Clin. Invest. 2008)
    4. AC133, a novel marker for human hematopoietic stem and progenitor cells. (PubMed id 9389720)1, 2, 9 Yin A.H.... Buck D.W. (Blood 1997)
    5. A novel five-transmembrane hematopoietic stem cell antigen: isolation, characterization, and molecular cloning. (PubMed id 9389721)1, 2, 9 Miraglia S.... Buck D.W. (Blood 1997)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Novel susceptibility loci for second primary tumors/recurrence in head and neck cancer patients: large-scale evaluation of genetic variants. (PubMed id 19584075)1, 4 Wu X....Hong W.K. (Cancer Prev Res (Phila) 2009)
    8. The stem cell marker prominin-1/CD133 on membrane particles in human cerebrospinal fluid offers novel approaches for studying central nervous system disease. (PubMed id 18096722)1, 2 Huttner H.B....Corbeil D. (Stem Cells 2008)
    9. Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. (PubMed id 17605048)1, 2 Zhang Q.... Hejtmancik J.F. (Hum. Genet. 2007)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8842 HGNC: 9454 AceView: PROM1 Ensembl:ENSG00000007062 euGenes: HUgn8842
    ECgene: PROM1 Kegg: 8842 H-InvDB: PROM1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PROM1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PROM1 Genetics and Cytogenetics in Oncology and Haematology
    Mutations of the PROM1 genehttp://www.retina-international.org/files/sci-news/promlmut.htm

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PROM1 gene:
    Search GeneIP for patents involving PROM1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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