2024-04-18 12:24:30, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001141969 2632 bp mRNA linear PRI 15-JUL-2013 DEFINITION Homo sapiens death-domain associated protein (DAXX), transcript variant 1, mRNA. ACCESSION NM_001141969 VERSION NM_001141969.1 GI:215422387 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 2632) AUTHORS Pan,W.W., Zhou,J.J., Liu,X.M., Xu,Y., Guo,L.J., Yu,C., Shi,Q.H. and Fan,H.Y. TITLE Death domain-associated protein DAXX promotes ovarian cancer development and chemoresistance JOURNAL J. Biol. Chem. 288 (19), 13620-13630 (2013) PUBMED 23539629 REMARK GeneRIF: DAXX is a novel ovarian cancer oncogene that promotes ovarian cancer cell proliferation and chemoresistance in ovarian cancer cells. REFERENCE 2 (bases 1 to 2632) AUTHORS Winkler,L.L., Hwang,J. and Kalejta,R.F. TITLE Ubiquitin-independent proteasomal degradation of tumor suppressors by human cytomegalovirus pp71 requires the 19S regulatory particle JOURNAL J. Virol. 87 (8), 4665-4671 (2013) PUBMED 23408605 REMARK GeneRIF: Authors show that only the proteasome 19S regulatory particle that normally participates in ubiquitin-dependent protein degradation, is required for human herpesvirus 5 pp71-mediated degradation of Rb and Daxx. REFERENCE 3 (bases 1 to 2632) AUTHORS Kwan,P.S., Lau,C.C., Chiu,Y.T., Man,C., Liu,J., Tang,K.D., Wong,Y.C. and Ling,M.T. TITLE Daxx regulates mitotic progression and prostate cancer predisposition JOURNAL Carcinogenesis 34 (4), 750-759 (2013) PUBMED 23239745 REMARK GeneRIF: Daxx may function as a novel APC/C inhibitor, which promotes chromosome instability during prostate cancer development. REFERENCE 4 (bases 1 to 2632) AUTHORS Li,J., Gu,L., Zhang,H., Liu,T., Tian,D., Zhou,M. and Zhou,S. TITLE Berberine represses DAXX gene transcription and induces cancer cell apoptosis JOURNAL Lab. Invest. 93 (3), 354-364 (2013) PUBMED 23295648 REMARK GeneRIF: Downregulation of DAXX by berberine resulted in inhibition of MDM2 and subsequently, activation of p53, leading to cancer cell death. REFERENCE 5 (bases 1 to 2632) AUTHORS Oberg,K. TITLE The genetics of neuroendocrine tumors JOURNAL Semin. Oncol. 40 (1), 37-44 (2013) PUBMED 23391111 REMARK GeneRIF: Studies indicate that mutations of the MEN-1 and ATRX/DAXX genes in sporadic pancreatic NETs (PNETs) provided insights into tumor development tumor development and therapy. REFERENCE 6 (bases 1 to 2632) AUTHORS Chang,H.Y., Nishitoh,H., Yang,X., Ichijo,H. and Baltimore,D. TITLE Activation of apoptosis signal-regulating kinase 1 (ASK1) by the adapter protein Daxx JOURNAL Science 281 (5384), 1860-1863 (1998) PUBMED 9743501 REFERENCE 7 (bases 1 to 2632) AUTHORS Pluta,A.F., Earnshaw,W.C. and Goldberg,I.G. TITLE Interphase-specific association of intrinsic centromere protein CENP-C with HDaxx, a death domain-binding protein implicated in Fas-mediated cell death JOURNAL J. Cell. Sci. 111 (PT 14), 2029-2041 (1998) PUBMED 9645950 REFERENCE 8 (bases 1 to 2632) AUTHORS Herberg,J.A., Beck,S. and Trowsdale,J. TITLE TAPASIN, DAXX, RGL2, HKE2 and four new genes (BING 1, 3 to 5) form a dense cluster at the centromeric end of the MHC JOURNAL J. Mol. Biol. 277 (4), 839-857 (1998) PUBMED 9545376 REFERENCE 9 (bases 1 to 2632) AUTHORS Kiriakidou,M., Driscoll,D.A., Lopez-Guisa,J.M. and Strauss,J.F. III. TITLE Cloning and expression of primate Daxx cDNAs and mapping of the human gene to chromosome 6p21.3 in the MHC region JOURNAL DNA Cell Biol. 16 (11), 1289-1298 (1997) PUBMED 9407001 REFERENCE 10 (bases 1 to 2632) AUTHORS Yang,X., Khosravi-Far,R., Chang,H.Y. and Baltimore,D. TITLE Daxx, a novel Fas-binding protein that activates JNK and apoptosis JOURNAL Cell 89 (7), 1067-1076 (1997) PUBMED 9215629 REMARK GeneRIF: A partial human cDNA clone was identified by its interaction with murine Fas in a yeast two-hybrid screening. The human clone was then used to clone the murine Daxx, which was further characterized. COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DC359186.1, BC073776.1, AK223404.1 and BM997178.1. Summary: This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety of proteins, such as apoptosis antigen Fas, centromere protein C, and transcription factor erythroblastosis virus E26 oncogene homolog 1. In the nucleus, the encoded protein functions as a potent transcription repressor that binds to sumoylated transcription factors. Its repression can be relieved by the sequestration of this protein into promyelocytic leukemia nuclear bodies or nucleoli. This protein also associates with centromeres in G2 phase. In the cytoplasm, the encoded protein may function to regulate apoptosis. The subcellular localization and function of this protein are modulated by post-translational modifications, including sumoylation, phosphorylation and polyubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]. Transcript Variant: This variant (1) represents the longest transcript but encodes the shorter isoform (a). Variants 1 and 2 encode the same isoform (a). 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 :: AK223404.1, AK292187.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-71 DC359186.1 1-71 72-1394 BC073776.1 1-1323 1395-2560 AK223404.1 1393-2558 2561-2632 BM997178.1 1-72 c FEATURES Location/Qualifiers source 1..2632 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="6" /map="6p21.3" gene 1..2632 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /note="death-domain associated protein" /db_xref="GeneID:1616" /db_xref="HGNC:2681" /db_xref="MIM:603186" exon 1..155 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /inference="alignment:Splign:1.39.8" exon 156..414 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /inference="alignment:Splign:1.39.8" misc_feature 199..201 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /note="upstream in-frame stop codon" CDS 208..2430 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /note="isoform a is encoded by transcript variant 1; death-associated protein 6; Fas-binding protein; CENP-C binding protein; ETS1-associated protein 1; death domain-associated protein 6; fas death domain-associated protein" /codon_start=1 /product="death domain-associated protein 6 isoform a" /protein_id="NP_001135441.1" /db_xref="GI:215422388" /db_xref="CCDS:CCDS4776.1" /db_xref="GeneID:1616" /db_xref="HGNC:2681" /db_xref="MIM:603186" /translation="
MATANSIIVLDDDDEDEAAAQPGPSHPLPNAASPGAEAPSSSEPHGARGSSSSGGKKCYKLENEKLFEEFLELCKMQTADHPEVVPFLYNRQQRAHSLFLASAEFCNILSRVLSRARSRPAKLYVYINELCTVLKAHSAKKKLNLAPAATTSNEPSGNNPPTHLSLDPTNAENTASQSPRTRGSRRQIQRLEQLLALYVAEIRRLQEKELDLSELDDPDSAYLQEARLKRKLIRLFGRLCELKDCSSLTGRVIEQRIPYRGTRYPEVNRRIERLINKPGPDTFPDYGDVLRAVEKAAARHSLGLPRQQLQLMAQDAFRDVGIRLQERRHLDLIYNFGCHLTDDYRPGVDPALSDPVLARRLRENRSLAMSRLDEVISKYAMLQDKSEEGERKKRRARLQGTSSHSADTPEASLDSGEGPSGMASQGCPSASRAETDDEDDEESDEEEEEEEEEEEEEATDSEEEEDLEQMQEGQEDDEEEDEEEEAAAGKDGDKSPMSSLQISNEKNLEPGKQISRSSGEQQNKGRIVSPSLLSEEPLAPSSIDAESNGEQPEELTLEEESPVSQLFELEIEALPLDTPSSVETDISSSRKQSEEPFTTVLENGAGMVSSTSFNGGVSPHNWGDSGPPCKKSRKEKKQTGSGPLGNSYVERQRSVHEKNGKKICTLPSPPSPLASLAPVADSSTRVDSPSHGLVTSSLCIPSPARLSQTPHSQPPRPGTCKTSVATQCDPEEIIVLSDSD
" misc_feature 208..2427 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /note="Daxx Family; Region: Daxx; pfam03344" /db_xref="CDD:146136" misc_feature 208..687 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UER7.2); Region: Necessary for interaction with USP7" misc_feature 739..741 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9UER7.2); phosphorylation site" misc_feature 844..846 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9UER7.2); phosphorylation site" misc_feature 1246..1917 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UER7.2); Region: Necessary for interaction with USP7" misc_feature 1378..1392 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UER7.2); Region: Nuclear localization signal (Potential)" misc_feature 1690..1692 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9UER7.2); phosphorylation site" misc_feature 1708..2082 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UER7.2); Region: Interaction with MAP3K5" misc_feature 1741..1743 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /experiment="experimental evidence, no additional details recorded" /note="N6-acetyllysine; propagated from UniProtKB/Swiss-Prot (Q9UER7.2); acetylation site" misc_feature 2083..2427 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UER7.2); Region: Interaction with SPOP" misc_feature 2089..2109 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UER7.2); Region: Nuclear localization signal (Potential)" misc_feature 2209..2211 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9UER7.2); phosphorylation site" misc_feature 2218..2220 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9UER7.2); phosphorylation site" misc_feature 2269..2271 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9UER7.2); phosphorylation site" misc_feature 2311..2313 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9UER7.2); phosphorylation site" misc_feature 2404..2427 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UER7.2); Region: Sumo interaction motif (SIM)" misc_feature 2416..2418 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9UER7.2); phosphorylation site" misc_feature 2422..2424 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9UER7.2); phosphorylation site" exon 415..1246 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /inference="alignment:Splign:1.39.8" variation 513 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /replace="a" /replace="g" /db_xref="dbSNP:12720095" STS 698..1049 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /standard_name="PMC230316P1" /db_xref="UniSTS:272179" exon 1247..1458 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /inference="alignment:Splign:1.39.8" variation 1344 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /replace="c" /replace="t" /db_xref="dbSNP:1059231" exon 1459..1672 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /inference="alignment:Splign:1.39.8" exon 1673..2147 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /inference="alignment:Splign:1.39.8" variation 2121 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /replace="a" /replace="g" /db_xref="dbSNP:2051625" exon 2148..2370 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /inference="alignment:Splign:1.39.8" variation 2189 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /replace="a" /replace="g" /db_xref="dbSNP:1801850" variation 2319 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /replace="c" /replace="t" /db_xref="dbSNP:11873" variation 2346 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /replace="g" /replace="t" /db_xref="dbSNP:1801849" exon 2371..2615 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /inference="alignment:Splign:1.39.8" variation 2460 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" /replace="g" /replace="t" /db_xref="dbSNP:1802272" polyA_signal 2586..2591 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" polyA_signal 2593..2598 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" polyA_site 2615 /gene="DAXX" /gene_synonym="BING2; DAP6; EAP1" ORIGIN
acgacaatatggcggcgcttagttgcatgaaggcggaaactctgtgacttccggtccgtagtggggcctgcggtgggagtgggaaggaaggcggagggaaccatgcgaggttctgagaattgcggcgagggtcgcctcgagagacggtttctgagcaggaattctgaaatccccaccacttcctccctccgggggatttgatcccctatggccaccgctaacagcatcatcgtgctggatgatgatgacgaagatgaagcagctgctcagccagggccctcccacccactccccaatgcggcctcacctggggcagaagcccctagctcctctgagcctcatggggccagaggaagcagtagttcgggcggcaagaaatgctacaagctggagaatgagaagctgttcgaagagttccttgaactttgtaagatgcagacagcagaccaccctgaggtggtcccattcctctataaccggcagcaacgtgcccactctctgtttttggcctcggcggagttctgcaacatcctctctagggtcctgtctcgggcccggagccggccagccaagctctatgtctacatcaatgagctctgcactgttctcaaggcccactcagccaaaaagaagctgaacttggcccctgccgccaccacctccaatgagccctctgggaataaccctcccacacacctctccttggaccccacaaatgctgaaaacactgcctctcagtctccaaggacccgtggttcccggcggcagatccagcgtttggagcagctgctggcgctctatgtggcagagatccggcggctgcaggaaaaggagttggatctctcagaattggatgacccagactccgcatacctgcaggaggcacggttgaagcgtaagctgatccgcctctttgggcgactatgtgagctgaaagactgctcttcactgaccggccgtgtcatagagcagcgcatcccctaccgtggcacccgctacccagaggttaacaggcgcattgagcggctcatcaacaagccagggcctgataccttccctgactatggggatgtgcttcgggctgtagagaaggcagctgcccgacacagccttggcctcccccgacagcagctccagctcatggctcaggatgccttccgagatgtgggcatcaggttacaggagcgacgtcacctcgatctcatctacaactttggctgccacctcacagatgactataggccaggcgttgaccctgcactatcagatcctgtgttggcccggcgccttcgggaaaaccggagtttggccatgagtcggctggatgaggtcatctccaaatatgcaatgttgcaagacaaaagtgaggagggcgagagaaaaaagagaagagctcggctccaaggcacctcttcccactctgcagacacccccgaagcctccttggattctggtgagggccctagtggaatggcatcccaggggtgcccttctgcctccagagctgagacagatgacgaagacgatgaggagagtgatgaggaagaggaggaggaggaggaagaagaagaggaggaggccacagattctgaagaggaggaggatctggaacagatgcaggagggtcaggaggatgatgaagaggaggacgaagaggaagaagcagcagcaggtaaagatggagacaagagccccatgtcctcactacagatctccaatgaaaagaacctggaacctggcaaacagatcagcagatcttcaggggagcagcaaaacaaaggacgcatagtgtcaccatcgttactgtcagaagaacccctggccccctccagcatagatgctgaaagcaatggagaacagcctgaggagctgaccctggaggaagaaagccctgtgtctcagctctttgagctagagattgaagctttgcccctggataccccttcctctgtggagacggacatttcctcttccaggaagcaatcagaggagcccttcaccactgtcttagagaatggagcaggcatggtctcttctacttccttcaatggaggcgtctctcctcacaactggggagattctggtcccccctgcaaaaaatctcggaaggagaagaagcaaacaggatcagggccattaggaaacagctatgtggaaaggcaaaggtcagtgcatgagaagaatgggaaaaagatatgtaccctgcccagcccaccttcccccttggcttccttggccccagttgctgattcctccacgagggtggactctcccagccatggcctggtgaccagctccctctgcatcccttctccagcccggctgtcccaaaccccccattcacagcctcctcggcctggtacttgcaagacaagtgtggccacacaatgcgatccagaagagatcatcgtgctctcagactctgattagctgcctccccttctccctgcctccagaatgttctgggataacatttggaggaaggtgggaagcagatgactgaggaagggatggactaagctaatccccttttggtggtgtttctttaaaaaaaaaaaaaagcttaagttttacacagaaacattaataaacaataaagttcttttcttactgtaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:1616 -> Molecular function: GO:0002039 [p53 binding] evidence: IPI GeneID:1616 -> Molecular function: GO:0005057 [receptor signaling protein activity] evidence: TAS GeneID:1616 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:1616 -> Molecular function: GO:0008134 [transcription factor binding] evidence: IDA GeneID:1616 -> Molecular function: GO:0019899 [enzyme binding] evidence: IPI GeneID:1616 -> Molecular function: GO:0031072 [heat shock protein binding] evidence: TAS GeneID:1616 -> Molecular function: GO:0031625 [ubiquitin protein ligase binding] evidence: IPI GeneID:1616 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IDA GeneID:1616 -> Molecular function: GO:0047485 [protein N-terminus binding] evidence: IPI GeneID:1616 -> Molecular function: GO:0050681 [androgen receptor binding] evidence: IPI GeneID:1616 -> Biological process: GO:0000281 [mitotic cytokinesis] evidence: IEA GeneID:1616 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:1616 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: IDA GeneID:1616 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:1616 -> Biological process: GO:0006917 [induction of apoptosis] evidence: ISS GeneID:1616 -> Biological process: GO:0007257 [activation of JUN kinase activity] evidence: TAS GeneID:1616 -> Biological process: GO:0008625 [extrinsic apoptotic signaling pathway via death domain receptors] evidence: TAS GeneID:1616 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA GeneID:1616 -> Biological process: GO:0030521 [androgen receptor signaling pathway] evidence: IDA GeneID:1616 -> Biological process: GO:0031396 [regulation of protein ubiquitination] evidence: IDA GeneID:1616 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: IDA GeneID:1616 -> Cellular component: GO:0000775 [chromosome, centromeric region] evidence: IEA GeneID:1616 -> Cellular component: GO:0000792 [heterochromatin] evidence: IEA GeneID:1616 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:1616 -> Cellular component: GO:0005634 [nucleus] evidence: IMP GeneID:1616 -> Cellular component: GO:0005730 [nucleolus] evidence: IEA GeneID:1616 -> Cellular component: GO:0005737 [cytoplasm] evidence: TAS GeneID:1616 -> Cellular component: GO:0005829 [cytosol] evidence: ISS GeneID:1616 -> Cellular component: GO:0016605 [PML body] evidence: IDA GeneID:1616 -> Cellular component: GO:0016605 [PML body] evidence: TAS
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