Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PROM1 contributors: mct/shn - updated : 05-04-2011
HGNC name prominin 1
HGNC id 9454
Corresponding disease
CORD12 cone-rod dystrophy type 12
MCDR2 macular dystrophy, retinal, 2, bull's-eye
RP41 retinitis pigmentosa type 41
STGD4 Stargardt disease 4
Location 4p15.32      Physical location : 15.969.848 - 16.085.623
Synonym name
  • AC133 antigen
  • hematopoietic stem and progenitor cells
  • prominin (mouse)-like 1
  • hProminin
  • CD133 antigen
  • prominin-like 1
  • Stargardt disease 4 (autosomal dominant)
  • Synonym symbol(s) AC133, PML1, CD133, PROML1, MSTP061, MSTP061
    DNA
    TYPE functioning gene
    STRUCTURE 115.75 kb     27 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • at least 9 distinctive 5'-untranslated region (UTR) exons, resulting in the formation of at least 7 alternatively spliced 5'-UTR isoforms of AC133 mRNA, which are expressed in a tissue-dependent manner
  • 5 alternative promoters
  • TCF/LEF-binding sites with 7-bp spacing within intron 2 were conserved
  • MAPPING cloned Y linked N status confirmed
    Map cen - D4S2362 - D4S2960 - PROM1 - D4S1567 - D4S2642 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 splicing 4257 - 856 - 2011 21937449
    25 splicing 3884 - 834 - 2011 21937449
    26 splicing 3908 - 842 - 2011 21937449
    24 splicing 3857 - 825 - 2011 21937449
    27 splicing 3977 120 865 - 2011 21937449
    25 splicing 3881 - 833 - 2011 21937449
    27 splicing 3973 - 856 - 2011 21937449
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   lowly
    Endocrinepancreas   highly
    Nervousbrain   lowly
    Reproductivefemale systemplacenta  highly
    Respiratorylung   moderately
    Urinarykidney   highly
    Visualeyeretina  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  lowly
    Muscularstriatumskeletal lowly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage CD34+ progenitor populations from adult blood and bone marrow cells
    cell lines retinoblastoma cells in adult, diffuse-type gastric cancer, and colorectal cancer
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text
  • placenta, liver, bone marrow, eye
  • embryonic stem (ES) cells, trachea, small intestine, NT2 cells
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • five-transmembrane (5-TM) domains
  • two short N (extracellular)- and C (cytoplasmic)-terminal tails
  • two large N-glycosylated extracellular loops
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to Prom1, Mus musculus
    ortholog to prom1a, Danio rerio
    ortholog to PROM1, Pan troglodytes
    ortholog to Prom1, Rattus norvegicus
    intraspecies paralog to PROM2, Homo sapiens
    Homologene
    FAMILY
  • prominin family of 5-transmembrane domain proteins
  • CATEGORY antigen
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • localized in plasma membrane evaginations at the base of the outer segment of rod photoreceptor cells
  • localized primarily to plasma membrane protrusions
  • basic FUNCTION
  • a role in the generation of plasma membrane protrusions of photoreceptor disks, their lipid composition and organization and their membrane-to-membrane interactions
  • hematopoietic stem cell marker
  • a valuable marker for human allogeneic transplantation
  • pentaspan membrane glycoprotein that constitutes an important cell surface marker of various, either normal or cancerous, stem cell populations
  • cell surface marker of hematopoietic stem cells, prostatic epithelial stem cells, pancreatic stem cells, leukemic stem cells, liver cancer stem cells, and colorectal cancer stem cells
  • may be involved in photoreceptor disk morphogenesis
  • marks intestinal stem cells that are susceptible to neoplastic transformation
  • has a function in growth and RET expression in neuroblastoma cell line- and primary tumor cell-derived tumor spheres
  • EPHA3 and PROM1 may play an important role in the development and progression of colorectal tumours
  • PROM1 N-glycans are involved in cell surface AC133 expression and cell staining for cell surface AC133 may be a readout for certain N-glycosylation processing and activities
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • protocadherin 21 (CDHR1) and actin filaments
  • interaction between CDHR1 and PROM1 is necessary for both proteins to function normally
  • MGAT4C is a positive regulator of cell surface PROM1 expression
  • acts as an MGAT4C substrate for complex N-glycan processing, which contributes to cell surface PROM1 recognition
  • PROM1 has negative effect on the growth of cells through AKT1-dependent signalling pathway
  • PROM1 associates with membrane CTNNB1 in early placodes, and its continued expression correlates with loss of CTNNB1 and CDH1 from the cell membrane at a time when CDH1 transcriptional repressors SNAI1 and SNAI2 are not implicated
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RP41 , STGD4 , MCDR2 , CORD12
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    aberrantly expressed in several neuroblastoma (NB) cell lines/tumor samples
    tumoral     --over  
    may play an important role in the development and hereditary of in non-small cell lung cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker useful indicator for clinical assessment of tumour biological behaviour and prognosis in patients with colorectal carcinoma
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularmyopathy 
    AC133+ stem cells could represent a future treatment for primary myopathies
    cancerbrainglioma/neuroblstoma
    therapy target for neuroblastoma patients
    ANIMAL & CELL MODELS
  • mice expressing R373C mutant human PROM1 gene display overgrown and misoriented outer segment disk membranes leading to defective disk morphogenesis