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2024-04-24 14:21:42, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006115 2162 bp mRNA linear PRI 29-APR-2013
DEFINITION Homo sapiens preferentially expressed antigen in melanoma (PRAME),
transcript variant 1, mRNA.
ACCESSION NM_006115
VERSION NM_006115.3 GI:46249365
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2162)
AUTHORS Goodison,S. and Urquidi,V.
TITLE The cancer testis antigen PRAME as a biomarker for solid tumor
cancer management
JOURNAL Biomark Med 6 (5), 629-632 (2012)
PUBMED 23075240
REMARK GeneRIF: PRAME as biomarkers for solid tumor
Review article
REFERENCE 2 (bases 1 to 2162)
AUTHORS Gutierrez-Cosio,S., de la Rica,L., Ballestar,E., Santamaria,C.,
Sanchez-Abarca,L.I., Caballero-Velazquez,T., Blanco,B.,
Calderon,C., Herrero-Sanchez,C., Carrancio,S., Ciudad,L.,
Canizo,C., San Miguel,J.F. and Perez-Simon,J.A.
TITLE Epigenetic regulation of PRAME in acute myeloid leukemia is
different compared to CD34+ cells from healthy donors: effect of
5-AZA treatment
JOURNAL Leuk. Res. 36 (7), 895-899 (2012)
PUBMED 22503131
REMARK GeneRIF: PRAME expression is regulated at the epigenetic level. For
this reason inhibitors of DNA methylation, such as 5-azacytidine,
can modulate the expression of this tumor associated antigen.
REFERENCE 3 (bases 1 to 2162)
AUTHORS Tan,P., Zou,C., Yong,B., Han,J., Zhang,L., Su,Q., Yin,J., Wang,J.,
Huang,G., Peng,T. and Shen,J.
TITLE Expression and prognostic relevance of PRAME in primary
osteosarcoma
JOURNAL Biochem. Biophys. Res. Commun. 419 (4), 801-808 (2012)
PUBMED 22390931
REMARK GeneRIF: these results suggest that PRAME plays an important role
in cell proliferation and disease progression in osteosarcoma.
REFERENCE 4 (bases 1 to 2162)
AUTHORS Costessi,A., Mahrour,N., Sharma,V., Stunnenberg,R., Stoel,M.A.,
Tijchon,E., Conaway,J.W., Conaway,R.C. and Stunnenberg,H.G.
TITLE The human EKC/KEOPS complex is recruited to Cullin2 ubiquitin
ligases by the human tumour antigen PRAME
JOURNAL PLoS ONE 7 (8), E42822 (2012)
PUBMED 22912744
REMARK GeneRIF: a novel link between the oncoprotein PRAME and the
conserved EKC complex
REFERENCE 5 (bases 1 to 2162)
AUTHORS Pollack,S.M., Li,Y., Blaisdell,M.J., Farrar,E.A., Chou,J.,
Hoch,B.L., Loggers,E.T., Rodler,E., Eary,J.F., Conrad,E.U. III,
Jones,R.L. and Yee,C.
TITLE NYESO-1/LAGE-1s and PRAME are targets for antigen specific T cells
in chondrosarcoma following treatment with 5-Aza-2-deoxycitabine
JOURNAL PLoS ONE 7 (2), E32165 (2012)
PUBMED 22384167
REMARK GeneRIF: NYESO-1/LAGE-1s and PRAME are targets for antigen specific
T cells in chondrosarcoma following treatment with
5-Aza-2-deoxycitabine
REFERENCE 6 (bases 1 to 2162)
AUTHORS Neumann,E., Engelsberg,A., Decker,J., Storkel,S., Jaeger,E.,
Huber,C. and Seliger,B.
TITLE Heterogeneous expression of the tumor-associated antigens RAGE-1,
PRAME, and glycoprotein 75 in human renal cell carcinoma:
candidates for T-cell-based immunotherapies?
JOURNAL Cancer Res. 58 (18), 4090-4095 (1998)
PUBMED 9751617
REFERENCE 7 (bases 1 to 2162)
AUTHORS van Baren,N., Chambost,H., Ferrant,A., Michaux,L., Ikeda,H.,
Millard,I., Olive,D., Boon,T. and Coulie,P.G.
TITLE PRAME, a gene encoding an antigen recognized on a human melanoma by
cytolytic T cells, is expressed in acute leukaemia cells
JOURNAL Br. J. Haematol. 102 (5), 1376-1379 (1998)
PUBMED 9753074
REFERENCE 8 (bases 1 to 2162)
AUTHORS Williams,J.M., Chen,G.C., Zhu,L. and Rest,R.F.
TITLE Using the yeast two-hybrid system to identify human epithelial cell
proteins that bind gonococcal Opa proteins: intracellular gonococci
bind pyruvate kinase via their Opa proteins and require host
pyruvate for growth
JOURNAL Mol. Microbiol. 27 (1), 171-186 (1998)
PUBMED 9466265
REFERENCE 9 (bases 1 to 2162)
AUTHORS Kirkin,A.F., Dzhandzhugazyan,K. and Zeuthen,J.
TITLE The immunogenic properties of melanoma-associated antigens
recognized by cytotoxic T lymphocytes
JOURNAL Exp. Clin. Immunogenet. 15 (1), 19-32 (1998)
PUBMED 9619397
REMARK Review article
REFERENCE 10 (bases 1 to 2162)
AUTHORS Ikeda,H., Lethe,B., Lehmann,F., van Baren,N., Baurain,J.F., de
Smet,C., Chambost,H., Vitale,M., Moretta,A., Boon,T. and
Coulie,P.G.
TITLE Characterization of an antigen that is recognized on a melanoma
showing partial HLA loss by CTL expressing an NK inhibitory
receptor
JOURNAL Immunity 6 (2), 199-208 (1997)
PUBMED 9047241
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BC022008.1 and U65011.1.
On Apr 6, 2004 this sequence version replaced gi:18201906.
Summary: This gene encodes an antigen that is predominantly
expressed in human melanomas and that is recognized by cytolytic T
lymphocytes. It is not expressed in normal tissues, except testis.
This expression pattern is similar to that of other CT antigens,
such as MAGE, BAGE and GAGE. However, unlike these other CT
antigens, this gene is also expressed in acute leukemias. Five
alternatively spliced transcript variants encoding the same protein
have been observed for this gene. [provided by RefSeq, Jul 2008].
Transcript Variant: This variant (1) lacks a segment in the 5' UTR
compared to the longest variant (2). Both variants encode the same
protein.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: U65011.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025085 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-60 BC022008.1 84-143
61-2162 U65011.1 47-2148
FEATURES Location/Qualifiers
source 1..2162
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="22"
/map="22q11.22"
gene 1..2162
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/note="preferentially expressed antigen in melanoma"
/db_xref="GeneID:23532"
/db_xref="HGNC:9336"
/db_xref="HPRD:05820"
/db_xref="MIM:606021"
exon 1..115
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/inference="alignment:Splign:1.39.8"
exon 116..151
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/inference="alignment:Splign:1.39.8"
exon 152..270
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/inference="alignment:Splign:1.39.8"
misc_feature 190..192
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/note="upstream in-frame stop codon"
CDS 250..1779
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/note="Opa-interacting protein OIP4; cancer/testis antigen
130; opa-interacting protein 4; preferentially expressed
antigen of melanoma"
/codon_start=1
/product="melanoma antigen preferentially expressed in
tumors"
/protein_id="NP_006106.1"
/db_xref="GI:5174641"
/db_xref="CCDS:CCDS13801.1"
/db_xref="GeneID:23532"
/db_xref="HGNC:9336"
/db_xref="HPRD:05820"
/db_xref="MIM:606021"
/translation="
MERRRLWGSIQSRYISMSVWTSPRRLVELAGQSLLKDEALAIAALELLPRELFPPLFMAAFDGRHSQTLKAMVQAWPFTCLPLGVLMKGQHLHLETFKAVLDGLDVLLAQEVRPRRWKLQVLDLRKNSHQDFWTVWSGNRASLYSFPEPEAAQPMTKKRKVDGLSTEAEQPFIPVEVLVDLFLKEGACDELFSYLIEKVKRKKNVLRLCCKKLKIFAMPMQDIKMILKMVQLDSIEDLEVTCTWKLPTLAKFSPYLGQMINLRRLLLSHIHASSYISPEKEEQYIAQFTSQFLSLQCLQALYVDSLFFLRGRLDQLLRHVMNPLETLSITNCRLSEGDVMHLSQSPSVSQLSVLSLSGVMLTDVSPEPLQALLERASATLQDLVFDECGITDDQLLALLPSLSHCSQLTTLSFYGNSISISALQSLLQHLIGLSNLTHVLYPVPLESYEDIHGTLHLERLAYLHARLRELLCELGRPSMVWLSANPCPHCGDRTFYDPEPILCPCFMPN
"
misc_feature 1216..1278
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P78395.1);
Region: LRR 1"
misc_feature 1297..1362
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P78395.1);
Region: LRR 2"
misc_feature 1384..1449
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P78395.1);
Region: LRR 3"
misc_feature 1468..1530
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P78395.1);
Region: LRR 4"
misc_feature 1495..1776
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P78395.1);
Region: Mediates interaction with RARA"
variation 268
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:1129172"
exon 271..593
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/inference="alignment:Splign:1.39.8"
exon 594..1202
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/inference="alignment:Splign:1.39.8"
variation 712
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/replace="a"
/replace="c"
/db_xref="dbSNP:1063107"
variation 1015
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:2229695"
exon 1203..2145
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/inference="alignment:Splign:1.39.8"
variation 1512
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:2229696"
variation 1776
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:13604"
STS 1857..2074
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/standard_name="RH70693"
/db_xref="UniSTS:4143"
STS 1859..1989
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/standard_name="RH48178"
/db_xref="UniSTS:37128"
variation 1966
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:7104"
variation 1998
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/replace="a"
/replace="c"
/db_xref="dbSNP:8405"
variation 2057
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/replace="a"
/replace="t"
/db_xref="dbSNP:1804685"
polyA_signal 2122..2127
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
polyA_site 2142
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
/experiment="experimental evidence, no additional details
recorded"
polyA_site 2145
/gene="PRAME"
/gene_synonym="CT130; MAPE; OIP-4; OIP4"
ORIGIN
cgagttccggcgaggcttcagggtacagctcccccgcagccagaagccgggcctgcagcgcctcagcaccgctccgggacaccccacccgcttcccaggcgtgacctgtcaacagcaacttcgcggtgtggtgaactctctgaggaaaaaccattttgattattactctcagacgtgcgtggcaacaagtgactgagacctagaaatccaagcgttggaggtcctgaggccagcctaagtcgcttcaaaatggaacgaaggcgtttgtggggttccattcagagccgatacatcagcatgagtgtgtggacaagcccacggagacttgtggagctggcagggcagagcctgctgaaggatgaggccctggccattgccgccctggagttgctgcccagggagctcttcccgccactcttcatggcagcctttgacgggagacacagccagaccctgaaggcaatggtgcaggcctggcccttcacctgcctccctctgggagtgctgatgaagggacaacatcttcacctggagaccttcaaagctgtgcttgatggacttgatgtgctccttgcccaggaggttcgccccaggaggtggaaacttcaagtgctggatttacggaagaactctcatcaggacttctggactgtatggtctggaaacagggccagtctgtactcatttccagagccagaagcagctcagcccatgacaaagaagcgaaaagtagatggtttgagcacagaggcagagcagcccttcattccagtagaggtgctcgtagacctgttcctcaaggaaggtgcctgtgatgaattgttctcctacctcattgagaaagtgaagcgaaagaaaaatgtactacgcctgtgctgtaagaagctgaagatttttgcaatgcccatgcaggatatcaagatgatcctgaaaatggtgcagctggactctattgaagatttggaagtgacttgtacctggaagctacccaccttggcgaaattttctccttacctgggccagatgattaatctgcgtagactcctcctctcccacatccatgcatcttcctacatttccccggagaaggaagagcagtatatcgcccagttcacctctcagttcctcagtctgcagtgcctgcaggctctctatgtggactctttatttttccttagaggccgcctggatcagttgctcaggcacgtgatgaaccccttggaaaccctctcaataactaactgccggctttcggaaggggatgtgatgcatctgtcccagagtcccagcgtcagtcagctaagtgtcctgagtctaagtggggtcatgctgaccgatgtaagtcccgagcccctccaagctctgctggagagagcctctgccaccctccaggacctggtctttgatgagtgtgggatcacggatgatcagctccttgccctcctgccttccctgagccactgctcccagcttacaaccttaagcttctacgggaattccatctccatatctgccttgcagagtctcctgcagcacctcatcgggctgagcaatctgacccacgtgctgtatcctgtccccctggagagttatgaggacatccatggtaccctccacctggagaggcttgcctatctgcatgccaggctcagggagttgctgtgtgagttggggcggcccagcatggtctggcttagtgccaacccctgtcctcactgtggggacagaaccttctatgacccggagcccatcctgtgcccctgtttcatgcctaactagctgggtgcacatatcaaatgcttcattctgcatacttggacactaaagccaggatgtgcatgcatcttgaagcaacaaagcagccacagtttcagacaaatgttcagtgtgagtgaggaaaacatgttcagtgaggaaaaaacattcagacaaatgttcagtgaggaaaaaaaggggaagttggggataggcagatgttgacttgaggagttaatgtgatctttggggagatacatcttatagagttagaaatagaatctgaatttctaaagggagattctggcttgggaagtacatgtaggagttaatccctgtgtagactgttgtaaagaaactgttgaaaataaagagaagcaatgtgaagcaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:23532 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:23532 -> Molecular function: GO:0042974 [retinoic acid receptor binding] evidence: IDA
GeneID:23532 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:23532 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:23532 -> Biological process: GO:0008284 [positive regulation of cell proliferation] evidence: IDA
GeneID:23532 -> Biological process: GO:0030154 [cell differentiation] evidence: IEA
GeneID:23532 -> Biological process: GO:0040008 [regulation of growth] evidence: IEA
GeneID:23532 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IDA
GeneID:23532 -> Biological process: GO:0045596 [negative regulation of cell differentiation] evidence: IDA
GeneID:23532 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: IDA
GeneID:23532 -> Biological process: GO:0048387 [negative regulation of retinoic acid receptor signaling pathway] evidence: IDA
GeneID:23532 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
GeneID:23532 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
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