• Gene id: 23532

Gene Summary

• Gene Symbol: PRAME   Gene   UCSC   Ensembl
• Aliases: CT130, MAPE, OIP-4, OIP4
• Gene name: PRAME nuclear receptor transcriptional regulator
• Alternate names: melanoma antigen preferentially expressed in tumors, Opa-interacting protein OIP4, cancer/testis antigen 130, opa-interacting protein 4, preferentially expressed antigen in melanoma, preferentially expressed antigen of melanoma,
• Gene location: 22q11.22 (22559360: 22547695)     Exons: 7     NC_000022.11
• Gene summary(Entrez): 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
• OMIM: 606021

Protein Summary

• Protein general information: P78395  
  • Name: Melanoma antigen preferentially expressed in tumors (Opa interacting protein 4) (OIP 4) (Preferentially expressed antigen of melanoma)
  • Length: 509  
  • Mass: 57890
  • Tissue specificity: Expressed in testis. Detected in samples of kidney, brain and skin. {ECO
• Sequence:

  MERRRLWGSIQSRYISMSVWTSPRRLVELAGQSLLKDEALAIAALELLPRELFPPLFMAAFDGRHSQTLKAMVQA
  WPFTCLPLGVLMKGQHLHLETFKAVLDGLDVLLAQEVRPRRWKLQVLDLRKNSHQDFWTVWSGNRASLYSFPEPE
  AAQPMTKKRKVDGLSTEAEQPFIPVEVLVDLFLKEGACDELFSYLIEKVKRKKNVLRLCCKKLKIFAMPMQDIKM
  ILKMVQLDSIEDLEVTCTWKLPTLAKFSPYLGQMINLRRLLLSHIHASSYISPEKEEQYIAQFTSQFLSLQCLQA
  LYVDSLFFLRGRLDQLLRHVMNPLETLSITNCRLSEGDVMHLSQSPSVSQLSVLSLSGVMLTDVSPEPLQALLER
  ASATLQDLVFDECGITDDQLLALLPSLSHCSQLTTLSFYGNSISISALQSLLQHLIGLSNLTHVLYPVPLESYED
  IHGTLHLERLAYLHARLRELLCELGRPSMVWLSANPCPHCGDRTFYDPEPILCPCFMPN

• Structural information:
  • Interpro: IPR032675  IPR026271  
  • STRING: ENSP00000445675
• Other Databases: GeneCards:  PRAME  Malacards:  PRAME

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042974	retinoic acid receptor binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0048387	negative regulation of retinoic acid receptor signaling pathway	IDA	biological process
GO:0045596	negative regulation of cell differentiation	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0042974	retinoic acid receptor binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0040008	regulation of growth	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process

Diseases

Associated diseases	References
mantle cell lymphoma	PMID:16620968
Myelodysplastic syndrome	PMID:24763007
Acute promyelocytic leukemia	PMID:18815192
Breast cancer	PMID:17624586
Melanoma	PMID:27505074
Melanoma	PMID:9047241
Osteosarcoma	PMID:22390931
Ovary adenocarcinoma	PMID:18709641
lung adenocarcinoma	PMID:27241212
Uveal melanoma	PMID:27486988
neuroblastoma	PMID:15240516
chronic myeloid leukemia	PMID:20838376
Hodgkin's lymphoma	PMID:26044287
myeloid leukemia	PMID:16103086
megakaryocytic leukemia	PMID:15180862
acute myeloid leukemia	PMID:20376794
multiple myeloma	PMID:24791872
acute lymphocytic leukemia	PMID:27275197
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq