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FLASH GENE
Symbol PRAME contributors: mct - updated : 27-10-2012
HGNC name preferentially expressed antigen in melanoma
HGNC id 9336
Location 22q11.22      Physical location : 22.890.123 - 22.901.696
Synonym name
  • gonococcal opacited associated (OPA) interacting protein 4
  • Opa-interacting protein OIP4
  • cancer/testis antigen 130
  • melanoma antigen preferentially expressed in tumors
  • Synonym symbol(s) MAPE, OIP4, CT130, OIP-4
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head, opposite orientation
    STRUCTURE 11.57 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    IGLVI-38 22q11.2 immunoglobulin lambda variable (I)-38 IGLV5-37 22q11.2 immunoglobulin lambda variable 5-37 IGLV1-36 22q11.2 immunoglobulin lambda variable 1-36 IGLV7-35 22q11.2 immunoglobulin lambda variable 7-35 SUHW2 22q11.2 suppressor of hairy wing homolog 2 (Drosophila) SUHW1 22q11.21 suppressor of hairy wing homolog 1 (Drosophila) PRAME 22q11.22 preferentially expressed antigen in melanoma IGLV2-34 22q11.2 immunoglobulin lambda variable 2-34 IGLV2-33 22q11.2 immunoglobulin lambda variable 2-33 IGLV3-32 22q11.2 immunoglobulin lambda variable 3-32 IGLV3-31 22q11.2 immunoglobulin lambda variable 3-31 IGLV3-30 22q11.2 immunoglobulin lambda variable 3-30 BCRL4 22q11.22 breakpoint cluster region-like 4 LOC150236 22q11.22 similar to hypothetical protein DKFZp434K191 (H. sapiens)
    RNA
    TRANSCRIPTS type messenger
    text
  • all variants encoding the same protein
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 splicing 2162 57.9 509 tumor cell lines and normal testis 2005 16179254
  • lacking a segment in the 5' UTR compared to the longest variant 2
  • 5 splicing 2776 57.9 509 tumor cell lines and normal testis 2005 16179254
    6 splicing 2141 57 509 - 2005 16179254
  • lacking a segment
  • using an alternate splice site in the 5' UTR compared to the longest variant 2
  • 6 splicing 2220 57 509 - 2005 16179254
  • containing an alternate first exon
  • lacking a segment in the 5' UTR compared to the longest variant 2
  • 5 splicing 2197 57 509 - 2005 16179254
  • having multiple differences in the 5' UTR compared to the longest variant 2
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver    
    Endocrineadrenal gland   highly
    Nervousbrain    
    Reproductivemale systemtestis   
     male systemprostate   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone  highly
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines myeloma cell lines, many melanomas, small cell lung carcinoma, head and neck tumor
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES basic
    STRUCTURE
    motifs/domains
  • a cluster of basic residues
  • a cysteine motif
  • seven LRR (leucine-rich) repeats
  • HOMOLOGY
    interspecies homolog to Drosophila npfr1
    homolog to C.elegans T20H4.4
    Homologene
    FAMILY MAPE family
    CATEGORY antigen
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus
    basic FUNCTION
  • tumor antigen recognized by cytolytic T lymphocytes
  • acting as a dominant repressor of RAR signaling
  • plays an important role in disease progression in acute leukemia
  • role for the PRAME ubiquitin ligase complex in NFY-mediated transcriptional regulation
  • plays an important role in cell proliferation and disease progression in osteosarcoma
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    text tumor antigen
    PATHWAY
    metabolism
    signaling
    a component
  • BC-box subunit of a Cullin2-based E3 ubiquitin ligase
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • gonococcal OPA protein
  • binds to RAR in the presence of RA, preventing ligand-induced receptor activation and target gene transcription through recruitment of Polycomb proteins
  • link between the oncoprotein PRAME and the conserved EKC complex and support a role for both complexes in the same pathways
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    by hypermethylation in a variety of cancers, confering growth or survival advantages by antagonizing RAR signaling
    tumoral     --over  
    in acute myeloid leukemia
    tumoral     --other  
    aberrantly expressed in chronic lymphoproliferative disorders
    tumoral     --low  
    in acute myeloblastic leukaemias that carried the chromosomal translocation t(8;21), which fuses the genes AML1 and ETO
    tumoral     --over  
    associates with clinicopathologic markers of poor outcome in head and neck cancer and might identify potential candidates with pre-cancerous lesions for chemoprevention with retinoids
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • marker for differentiating serous carcinoma from malignant mesothelioma
  • Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    potential target for therapy in chronic lymphoproliferative disorders
    cancerhemopathy 
    target for both prognostic and therapeutic applicationsin leukemia
    ANIMAL & CELL MODELS