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FLASH GENE

Symbol

PRAME

contributors: mct - updated : 27-10-2015

HGNC name	preferentially expressed antigen in melanoma
HGNC id	9336

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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
	PRAME is upregulated by signalling pathways that are activated in response to infection/inflammation, and its product may have dual functions as a histone-binding protein, and in directing ubiquitylation of target proteins for processing in the Golgi

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
	PRAME is a substrate recognition subunit of a CUL2-based E3 ubiquitin ligase
	link between the oncoprotein PRAME and the conserved EKC complex and support a role for both complexes in the same pathways
	PRAME associates with EELOB and ELOC, components of Cullin E3 ubiquitin ligase complexes

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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 tumoral     --over   in the vast majority of myxoid liposarcomas, and their high-level expression correlated with tumour grade and poor prognosis

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	marker for differentiating serous carcinoma from malignant mesothelioma
Therapy target
	System Type Disorder Pubmed cancer hemopathy   potential target for therapy in chronic lymphoproliferative disorders cancer hemopathy   target for both prognostic and therapeutic applicationsin leukemia

ANIMAL & CELL MODELS