PRAME (PRAME nuclear receptor transcriptional regulator)

Gene

• Entrez ID: 23532
• Gene name: PRAME nuclear receptor transcriptional regulator
• Gene symbol: PRAME
• Synonyms: CT130, MAPE, OIP-4, OIP4
• Chromosome: 22
• Chromosome location: 22q11.22
• Summary: This gene encodes an antigen that is preferentially expressed in human melanomas and that is recognized by cytolytic T lymphocytes. It is not expressed in normal tissues, except testis. The encoded protein acts as a repressor of retinoic acid receptor, an

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1259555	hsa-miR-298	CLIP-seq
MIRT1259556	hsa-miR-3942-3p	CLIP-seq
MIRT1259557	hsa-miR-4263	CLIP-seq
MIRT1259558	hsa-miR-505	CLIP-seq
MIRT1259559	hsa-miR-576-5p	CLIP-seq
MIRT1259560	hsa-miR-618	CLIP-seq
MIRT1259558	hsa-miR-505	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SOX9	Repression	19273910

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16179254
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA
GO:0006915	Process	Apoptotic process	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	16179254
GO:0030154	Process	Cell differentiation	IEA
GO:0040008	Process	Regulation of growth	IEA
GO:0042974	Function	Retinoic acid receptor binding	IBA	21873635
GO:0042974	Function	Retinoic acid receptor binding	IDA	16179254
GO:0043066	Process	Negative regulation of apoptotic process	IDA	16179254
GO:0045596	Process	Negative regulation of cell differentiation	IDA	16179254
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	16179254
GO:0048387	Process	Negative regulation of retinoic acid receptor signaling pathway	IDA	16179254

Other IDs

• MIM: 606021
• HGNC: 9336
• e!Ensembl: ENSG00000185686

Protein

• UniProt ID: P78395
• Protein name: Melanoma antigen preferentially expressed in tumors (Opa-interacting protein 4) (OIP-4) (Preferentially expressed antigen of melanoma)
• Protein function: Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex, which mediates ubiquitination of target proteins, leading to their degradation (PubMed:21822215, PubMed:26138980). The CRL2(PRAME) complex mediates ubiqui
• Sequence:

  MERRRLWGSIQSRYISMSVWTSPRRLVELAGQSLLKDEALAIAALELLPRELFPPLFMAA
  FDGRHSQTLKAMVQAWPFTCLPLGVLMKGQHLHLETFKAVLDGLDVLLAQEVRPRRWKLQ
  VLDLRKNSHQDFWTVWSGNRASLYSFPEPEAAQPMTKKRKVDGLSTEAEQPFIPVEVLVD
  LFLKEGACDELFSYLIEKVKRKKNVLRLCCKKLKIFAMPMQDIKMILKMVQLDSIEDLEV
  TCTWKLPTLAKFSPYLGQMINLRRLLLSHIHASSYISPEKEEQYIAQFTSQFLSLQCLQA
  LYVDSLFFLRGRLDQLLRHVMNPLETLSITNCRLSEGDVMHLSQSPSVSQLSVLSLSGVM
  LTDVSPEPLQALLERASATLQDLVFDECGITDDQLLALLPSLSHCSQLTTLSFYGNSISI
  SALQSLLQHLIGLSNLTHVLYPVPLESYEDIHGTLHLERLAYLHARLRELLCELGRPSMV
  WLSANPCPHCGDRTFYDPEPILCPCFMPN

• Sequence length: 509

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Leukemia	leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	16179254
Lung carcinoma	Non-Small Cell Lung Carcinoma	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	16179254
Medulloblastoma	Medulloblastoma, Childhood Medulloblastoma, Adult Medulloblastoma, Desmoplastic Medulloblastoma, Melanotic medulloblastoma	rs1589970134, rs587776578, rs587776579, rs17847577, rs111033171, rs80359604, rs80358785, rs80358814, rs863224925, rs1555950011, rs1554231278, rs926177767, rs759412460, rs1564032829, rs761911009	16179254
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	16179254
Multiple myeloma	Multiple Myeloma	rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962, rs751524927, rs1575079076, rs1575446356, rs1478603808, rs1578264146, rs1578673280, rs1579484570, rs1579491104, rs1171390403, rs1582867955, rs764264135, rs951047896, rs890521687, rs1581495906, rs1587941402, rs1003155450, rs1588299621, rs1591100766, rs1591693095, rs1029296641, rs1593107841, rs1208575764, rs1593835248, rs1594406727, rs1594966387, rs1595889508, rs1159294530, rs1597073318, rs1135402871, rs1599413207, rs1418268495, rs1212577459, rs1600394490, rs1455074519, rs1603113792, rs1603415028, rs1602247047, rs1603452612	16179254
Papillary renal carcinoma	Papillary Renal Cell Carcinoma	rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724	16179254
Renal carcinoma	Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney	rs121913668, rs121913670, rs121913243, rs786202724	16179254
Sarcoma	Sarcoma, Epithelioid, Sarcoma, Spindle Cell, Sarcoma	rs11540652, rs104886003, rs137852790, rs1555927374	16179254

Unknown
Disease name	Disease term	dbSNP ID	References
Chromophobe carcinoma	Chromophobe Renal Cell Carcinoma	rs137853247	16179254
Head and neck neoplasms	Head and Neck Neoplasms		16179254
Head neoplasms	Head Neoplasms		16179254
Neck cancer	Cancer of Neck		16179254
Neoplasm of head	Cancer of Head		16179254
Head and neck cancer	Malignant Head and Neck Neoplasm	rs762384959, rs16879870, rs2761591, rs2641256, rs854936	16179254
Medullomyoblastoma	Medullomyoblastoma		16179254
Myeloid leukemia	Myeloid Leukemia, Chronic		17157168
Neck neoplasms	Neck Neoplasms		16179254
Upper aerodigestive tract neoplasms	Upper Aerodigestive Tract Neoplasms		16179254