2024-03-29 21:26:07, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001276307 1564 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 4, mRNA. ACCESSION NM_001276307 VERSION NM_001276307.1 GI:443929384 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 1564) AUTHORS McKimpson,W.M., Weinberger,J., Czerski,L., Zheng,M., Crow,M.T., Pessin,J.E., Chua,S.C. Jr. and Kitsis,R.N. TITLE The apoptosis inhibitor ARC alleviates the ER stress response to promote beta-cell survival JOURNAL Diabetes 62 (1), 183-193 (2013) PUBMED 22933109 REMARK GeneRIF: ARC is a previously unrecognized inhibitor of apoptosis in beta-cells and that its protective effects are mediated through suppression of the ER stress response pathway. REFERENCE 2 (bases 1 to 1564) AUTHORS Russell,J.F., Steckley,J.L., Coppola,G., Hahn,A.F., Howard,M.A., Kornberg,Z., Huang,A., Mirsattari,S.M., Merriman,B., Klein,E., Choi,M., Lee,H.Y., Kirk,A., Nelson-Williams,C., Gibson,G., Baraban,S.C., Lifton,R.P., Geschwind,D.H., Fu,Y.H. and Ptacek,L.J. TITLE Familial cortical myoclonus with a mutation in NOL3 JOURNAL Ann. Neurol. 72 (2), 175-183 (2012) PUBMED 22926851 REMARK GeneRIF: This study utilized unbiased, genome-wide approaches to identify a NOL3 mutation that likely causes Familial cortical myoclonus. REFERENCE 3 (bases 1 to 1564) AUTHORS Ao,J.E., Kuang,L.H., Zhou,Y., Zhao,R. and Yang,C.M. TITLE Hypoxia-inducible factor 1 regulated ARC expression mediated hypoxia induced inactivation of the intrinsic death pathway in p53 deficient human colon cancer cells JOURNAL Biochem. Biophys. Res. Commun. 420 (4), 913-917 (2012) PUBMED 22475487 REMARK GeneRIF: HIF-1alpha directly bound to hypoxia-responsive element located at -419 to -414 of ARC gene, which is essential for HIF-1-induced expression. REFERENCE 4 (bases 1 to 1564) AUTHORS Zaiman,A.L., Damico,R., Thoms-Chesley,A., Files,D.C., Kesari,P., Johnston,L., Swaim,M., Mozammel,S., Myers,A.C., Halushka,M., El-Haddad,H., Shimoda,L.A., Peng,C.F., Hassoun,P.M., Champion,H.C., Kitsis,R.N. and Crow,M.T. TITLE A critical role for the protein apoptosis repressor with caspase recruitment domain in hypoxia-induced pulmonary hypertension JOURNAL Circulation 124 (23), 2533-2542 (2011) PUBMED 22082675 REMARK GeneRIF: ARC, previously unlinked to pulmonary hypertension, is a critical determinant of vascular remodeling in this syndrome. REFERENCE 5 (bases 1 to 1564) AUTHORS Jo,D.G., Jun,J.I., Chang,J.W., Hong,Y.M., Song,S., Cho,D.H., Shim,S.M., Lee,H.J., Cho,C., Kim,D.H. and Jung,Y.K. TITLE Calcium binding of ARC mediates regulation of caspase 8 and cell death JOURNAL Mol. Cell. Biol. 24 (22), 9763-9770 (2004) PUBMED 15509781 REMARK GeneRIF: calcium binding mediates regulation of caspase 8 and cell death by ARC REFERENCE 6 (bases 1 to 1564) AUTHORS Nam,Y.J., Mani,K., Ashton,A.W., Peng,C.F., Krishnamurthy,B., Hayakawa,Y., Lee,P., Korsmeyer,S.J. and Kitsis,R.N. TITLE Inhibition of both the extrinsic and intrinsic death pathways through nonhomotypic death-fold interactions JOURNAL Mol. Cell 15 (6), 901-912 (2004) PUBMED 15383280 REMARK GeneRIF: ARC is recruited to the Fas DISC. By interacting with Fas and FADD through CARD-DD and CARD-DED interactions, ARC prevents DISC assembly and procaspase-8 activation. GeneRIF: The CARD of ARC binds the Bax C-terminus, preventing Bax activation and activation of the intrinsic mitochondrial pathway GeneRIF: ARC holds multiple death pathways in check by non-homotypic death-fold interactions. Loss of ARC disinhibits these, leading to accelerated DISC assembly and Bax activation and may be an apoptotic trigger in heart failure and ischemia-reperfusion. REFERENCE 7 (bases 1 to 1564) AUTHORS Ekhterae,D., Platoshyn,O., Zhang,S., Remillard,C.V. and Yuan,J.X. TITLE Apoptosis repressor with caspase domain inhibits cardiomyocyte apoptosis by reducing K+ currents JOURNAL Am. J. Physiol., Cell Physiol. 284 (6), C1405-C1410 (2003) PUBMED 12734105 REMARK GeneRIF: These results suggest that the antiapoptotic effect of apoptotic repressor with caspase recruitment domain is, in part, due to inhibition of voltage-gated potassium channels in cardiomyocytes. REFERENCE 8 (bases 1 to 1564) AUTHORS Li,P.F., Li,J., Muller,E.C., Otto,A., Dietz,R. and von Harsdorf,R. TITLE Phosphorylation by protein kinase CK2: a signaling switch for the caspase-inhibiting protein ARC JOURNAL Mol. Cell 10 (2), 247-258 (2002) PUBMED 12191471 REFERENCE 9 (bases 1 to 1564) AUTHORS Stoss,O., Schwaiger,F.W., Cooper,T.A. and Stamm,S. TITLE Alternative splicing determines the intracellular localization of the novel nuclear protein Nop30 and its interaction with the splicing factor SRp30c JOURNAL J. Biol. Chem. 274 (16), 10951-10962 (1999) PUBMED 10196175 REFERENCE 10 (bases 1 to 1564) AUTHORS Koseki,T., Inohara,N., Chen,S. and Nunez,G. TITLE ARC, an inhibitor of apoptosis expressed in skeletal muscle and heart that interacts selectively with caspases JOURNAL Proc. Natl. Acad. Sci. U.S.A. 95 (9), 5156-5160 (1998) PUBMED 9560245 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CB959673.1 and AF064599.1. Summary: This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]. Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 4, and 5 encode the same protein (isoform MYP). 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## CDS exon combination :: BC012798.2, BX507181.1 [ECO:0000331] RNAseq introns :: mixed/partial sample support ERS025084, ERS025088 [ECO:0000350] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-588 CB959673.1 28-615 589-1564 AF064599.1 406-1381 FEATURES Location/Qualifiers source 1..1564 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16q22.1" gene 1..1564 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /note="nucleolar protein 3 (apoptosis repressor with CARD domain)" /db_xref="GeneID:8996" /db_xref="HGNC:7869" /db_xref="MIM:605235" exon 1..78 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /inference="alignment:Splign:1.39.8" exon 79..179 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /inference="alignment:Splign:1.39.8" misc_feature 176..178 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /note="upstream in-frame stop codon" exon 180..218 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /inference="alignment:Splign:1.39.8" variation 202 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:2233455" exon 219..521 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /inference="alignment:Splign:1.39.8" CDS 227..853 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /note="isoform MYP is encoded by transcript variant 4; nucleolar protein of 30 kDa; muscle-enriched cytoplasmic protein" /codon_start=1 /product="nucleolar protein 3 isoform MYP" /protein_id="NP_001263236.1" /db_xref="GI:443929385" /db_xref="GeneID:8996" /db_xref="HGNC:7869" /db_xref="MIM:605235" /translation="
MGNAQERPSETIDRERKRLVETLQADSGLLLDALLARGVLTGPEYEALDALPDAERRVRRLLLLVQGKGEAACQELLRCAQRTAGAPDPAWDWQHVGPGYRDRSYDPPCPGHWTPEAPGSGTTCPGLPRASDPDEAGGPEGSEAVQSGTPEEPEPELEAEASKEAEPEPEPEPELEPEAEAEPEPELEPEPDPEPEPDFEERDESEDS
" misc_feature 239..502 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /note="Caspase recruitment domain; Region: CARD; smart00114" /db_xref="CDD:128424" variation 250 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:369557885" variation 263 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="g" /db_xref="dbSNP:2233457" variation 301 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:199980306" variation 335 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:202111825" variation 392 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="g" /db_xref="dbSNP:375270565" variation 411 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:201067296" variation 446 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:375650340" variation 470 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:369265508" variation 476 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:201367451" exon 522..845 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /inference="alignment:Splign:1.39.8" variation 557 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:2233458" variation 568 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="g" /db_xref="dbSNP:200144674" variation 586 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:371108668" variation 597 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="g" /replace="t" /db_xref="dbSNP:375028825" variation 634 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="g" /db_xref="dbSNP:2233459" variation 732 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:377659624" variation 753 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:375346192" variation 779 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:367640749" variation 801 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:371908750" variation 804 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:201221648" variation 812 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:201587168" STS 817..936 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /standard_name="RH47869" /db_xref="UniSTS:40524" variation 823 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:368688530" variation 841 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:188696118" exon 846..1536 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /inference="alignment:Splign:1.39.8" variation 864 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:377629448" variation 882 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:199600705" variation 889 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="g" /db_xref="dbSNP:201000974" STS 903..979 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /standard_name="RH41857" /db_xref="UniSTS:52321" variation 903 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:2233460" variation 980 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="" /replace="g" /db_xref="dbSNP:34549032" variation 1082 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:369479649" variation 1117 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="c" /db_xref="dbSNP:75280012" variation 1151 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:8057598" variation 1245 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:374851015" variation 1306 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:11548450" variation 1349 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:369065916" variation 1400..1402 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="" /replace="att" /db_xref="dbSNP:375713230" variation 1401..1402 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="" /replace="tt" /db_xref="dbSNP:368811483" variation 1402 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:111417515" variation 1484 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:372985188" variation 1506 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:149556040" polyA_site 1537 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" ORIGIN
gccgcagctgctgcacccacccccaccctgcccggccctttctgcaccgtcatctcctgccccgccgaggcttgacccgtgctgtccccctctcccttcctttgcccaccgattggagggacactctggaaaactcagttgaagaaagcggagagtctgcgtgtacacagtgcaatgatgtcctgtgcttgcggagccgtccggcggctgggatcgagccccgacaatgggcaacgcgcaggagcggccgtcagagactatcgaccgcgagcggaaacgcctggtcgagacgctgcaggcggactcgggactgctgttggacgcgctgctggcgcggggcgtgctcaccgggccagagtacgaggcattggatgcactgcctgatgccgagcgcagggtgcgccgcctactgctgctggtgcagggcaagggcgaggccgcctgccaggagctgctacgctgtgcccagcgtaccgcgggcgcgccggaccccgcttgggactggcagcacgtgggtccgggctaccgggaccgcagctatgaccctccatgcccaggccactggacgccggaggcacccggctcggggaccacatgccccgggttgcccagagcttcagaccctgacgaggccgggggccctgagggctccgaggcggtgcaatccgggaccccggaggagccagagccagagctggaagctgaggcctctaaagaggctgaaccggagccggagccagagccagagctggaacccgaggctgaagcagaaccagagccggaactggagccagaaccggacccagagcccgagcccgacttcgaggaaagggacgagtccgaagattcctgaaggccagagctctgacaggcggtgccccgcccatgctggataggacctgggatgctgctggagctgaatcggatgccaccaaggctcggtccagcccagtaccgctggaagtgaataaactccggagggtcggacgggacctgggctctctccacgattctggctgtttgcccaggaacttagggtgggtacctctgagtcccagggacctgggcaggcccaagcccaccacgagcatcatccagtcctcagccctaatctgcccttaggagtccaggctgcaccctggagatcccaaacctagccccctagtgggacaaggacctgaccctcctgcccgcatacacaacccatttcccctggtgagccacttggcagcatatgtaggtaccagctcaaccccacgcaagttcctgagctgaacatggagcaaggggagggtgacttctctccacatagggagggcttagagctcacagccttgggaagtgagactagaagaggggagcagaaagggaccttgagtagacaaaggccacacacatcattgtcattactgttttaattgtctggcttctctctggactgggagctcagtgaggattctgaccagtgacttacacaaaaggcgctctatacatattataatatattcgcttactaaatgaataaggactttccaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:8996 -> Molecular function: GO:0003723 [RNA binding] evidence: TAS GeneID:8996 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:8996 -> Molecular function: GO:0042802 [identical protein binding] evidence: IPI GeneID:8996 -> Biological process: GO:0006397 [mRNA processing] evidence: IEA GeneID:8996 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:8996 -> Biological process: GO:0008380 [RNA splicing] evidence: IEA GeneID:8996 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS GeneID:8996 -> Cellular component: GO:0005730 [nucleolus] evidence: IEA GeneID:8996 -> Cellular component: GO:0005739 [mitochondrion] evidence: ISS GeneID:8996 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:8996 -> Cellular component: GO:0016528 [sarcoplasm] evidence: IEA
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