2024-04-19 15:14:17, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_003946 1540 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 2, mRNA. ACCESSION NM_003946 VERSION NM_003946.6 GI:443929387 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 1540) 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 1540) 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 1540) 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 1540) 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 1540) 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 1540) 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 1540) 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 1540) 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 1540) 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 1540) 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 BQ685512.1 and AF064599.1. On Jan 28, 2013 this sequence version replaced gi:440918688. 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 (2) originates from a different promoter and has a shorter 5' UTR, compared to variant 1. This transcript and protein were described by Stoss et al. (PMID: 10196175). 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## Transcript exon combination :: BQ685512.1, BC012798.2 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-820 BQ685512.1 1-820 821-1540 AF064599.1 662-1381 FEATURES Location/Qualifiers source 1..1540 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16q22.1" gene 1..1540 /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="HPRD:05572" /db_xref="MIM:605235" exon 1..194 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /inference="alignment:Splign:1.39.8" misc_feature 14..16 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /note="upstream in-frame stop codon" variation 106 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:113475662" variation 178 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:2233455" exon 195..497 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /inference="alignment:Splign:1.39.8" CDS 203..829 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /note="isoform MYP is encoded by transcript variant 2; nucleolar protein of 30 kDa; muscle-enriched cytoplasmic protein" /codon_start=1 /product="nucleolar protein 3 isoform MYP" /protein_id="NP_003937.1" /db_xref="GI:4505419" /db_xref="CCDS:CCDS42176.1" /db_xref="GeneID:8996" /db_xref="HGNC:7869" /db_xref="HPRD:05572" /db_xref="MIM:605235" /translation="
MGNAQERPSETIDRERKRLVETLQADSGLLLDALLARGVLTGPEYEALDALPDAERRVRRLLLLVQGKGEAACQELLRCAQRTAGAPDPAWDWQHVGPGYRDRSYDPPCPGHWTPEAPGSGTTCPGLPRASDPDEAGGPEGSEAVQSGTPEEPEPELEAEASKEAEPEPEPEPELEPEAEAEPEPELEPEPDPEPEPDFEERDESEDS
" misc_feature 215..478 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /note="Caspase recruitment domain; Region: CARD; smart00114" /db_xref="CDD:128424" misc_feature 647..649 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /citation=[8] /db_xref="HPRD:00277" variation 226 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:369557885" variation 239 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="g" /db_xref="dbSNP:2233457" variation 277 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:199980306" variation 311 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:202111825" variation 368 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="g" /db_xref="dbSNP:375270565" variation 387 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:201067296" variation 422 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:375650340" variation 446 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:369265508" variation 452 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:201367451" exon 498..821 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /inference="alignment:Splign:1.39.8" variation 533 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:2233458" variation 544 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="g" /db_xref="dbSNP:200144674" variation 562 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:371108668" variation 573 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="g" /replace="t" /db_xref="dbSNP:375028825" variation 610 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="g" /db_xref="dbSNP:2233459" variation 708 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:377659624" variation 729 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:375346192" variation 755 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:367640749" variation 777 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:371908750" variation 780 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:201221648" variation 788 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:201587168" STS 793..912 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /standard_name="RH47869" /db_xref="UniSTS:40524" variation 799 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:368688530" variation 817 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:188696118" exon 822..1512 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /inference="alignment:Splign:1.39.8" variation 840 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:377629448" variation 858 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:199600705" variation 865 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="g" /db_xref="dbSNP:201000974" STS 879..955 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /standard_name="RH41857" /db_xref="UniSTS:52321" variation 879 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:2233460" variation 956 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="" /replace="g" /db_xref="dbSNP:34549032" variation 1058 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:369479649" variation 1093 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="c" /db_xref="dbSNP:75280012" variation 1127 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:8057598" variation 1221 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:374851015" variation 1282 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:11548450" variation 1325 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:369065916" variation 1376..1378 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="" /replace="att" /db_xref="dbSNP:375713230" variation 1377..1378 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="" /replace="tt" /db_xref="dbSNP:368811483" variation 1378 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:111417515" variation 1460 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="a" /replace="g" /db_xref="dbSNP:372985188" variation 1482 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" /replace="c" /replace="t" /db_xref="dbSNP:149556040" polyA_site 1510 /gene="NOL3" /gene_synonym="ARC; FCM; MYP; NOP; NOP30" ORIGIN
ggcattcagagagtagatgccagtcctgggaaaggcaggggaggagaggagagccacggctgacgcttggggacagaaggaggagcctgaggaggagacaggacagagcgtctggagaggcaggaggacaccgagttccccgtgttggcctccaggtcctgtgcttgcggagccgtccggcggctgggatcgagccccgacaatgggcaacgcgcaggagcggccgtcagagactatcgaccgcgagcggaaacgcctggtcgagacgctgcaggcggactcgggactgctgttggacgcgctgctggcgcggggcgtgctcaccgggccagagtacgaggcattggatgcactgcctgatgccgagcgcagggtgcgccgcctactgctgctggtgcagggcaagggcgaggccgcctgccaggagctgctacgctgtgcccagcgtaccgcgggcgcgccggaccccgcttgggactggcagcacgtgggtccgggctaccgggaccgcagctatgaccctccatgcccaggccactggacgccggaggcacccggctcggggaccacatgccccgggttgcccagagcttcagaccctgacgaggccgggggccctgagggctccgaggcggtgcaatccgggaccccggaggagccagagccagagctggaagctgaggcctctaaagaggctgaaccggagccggagccagagccagagctggaacccgaggctgaagcagaaccagagccggaactggagccagaaccggacccagagcccgagcccgacttcgaggaaagggacgagtccgaagattcctgaaggccagagctctgacaggcggtgccccgcccatgctggataggacctgggatgctgctggagctgaatcggatgccaccaaggctcggtccagcccagtaccgctggaagtgaataaactccggagggtcggacgggacctgggctctctccacgattctggctgtttgcccaggaacttagggtgggtacctctgagtcccagggacctgggcaggcccaagcccaccacgagcatcatccagtcctcagccctaatctgcccttaggagtccaggctgcaccctggagatcccaaacctagccccctagtgggacaaggacctgaccctcctgcccgcatacacaacccatttcccctggtgagccacttggcagcatatgtaggtaccagctcaaccccacgcaagttcctgagctgaacatggagcaaggggagggtgacttctctccacatagggagggcttagagctcacagccttgggaagtgagactagaagaggggagcagaaagggaccttgagtagacaaaggccacacacatcattgtcattactgttttaattgtctggcttctctctggactgggagctcagtgaggattctgaccagtgacttacacaaaaggcgctctatacatattataatatattcgcttactaaatgaataaggactttccaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
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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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