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2024-03-29 01:01:37, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001185057            1530 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD
            domain) (NOL3), transcript variant 3, mRNA.
ACCESSION   NM_001185057
VERSION     NM_001185057.2  GI:443929386
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 1530)
  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 1530)
  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 1530)
  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 1530)
  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 1530)
  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 1530)
  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 1530)
  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 1530)
  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 1530)
  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 1530)
  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 DA928396.1 and AF064599.1.
            On Jan 28, 2013 this sequence version replaced gi:297632351.
            
            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 (3) originates from a different
            promoter, has a shorter 5' UTR, and uses an alternate splice site
            in the CDS, compared to variant 1. This transcript and protein were
            described by Stoss et al. (PMID: 10196175). The resulting protein
            (Nop30) has the same N-terminus and then is frameshifted resulting
            in a distinct C-terminus, compared to 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 :: AF064599.1, BG742915.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025082, ERS025083 [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
            1-149               DA928396.1         362-510
            150-1530            AF064599.1         1-1381
FEATURES             Location/Qualifiers
     source          1..1530
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..1530
                     /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..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..487
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /inference="alignment:Splign:1.39.8"
     CDS             203..862
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /note="isoform Nop30 is encoded by transcript variant 3;
                     nucleolar protein of 30 kDa; muscle-enriched cytoplasmic
                     protein"
                     /codon_start=1
                     /product="nucleolar protein 3 isoform Nop30"
                     /protein_id="NP_001171986.1"
                     /db_xref="GI:297632352"
                     /db_xref="CCDS:CCDS58473.1"
                     /db_xref="GeneID:8996"
                     /db_xref="HGNC:7869"
                     /db_xref="MIM:605235"
                     /translation="
MGNAQERPSETIDRERKRLVETLQADSGLLLDALLARGVLTGPEYEALDALPDAERRVRRLLLLVQGKGEAACQELLRCAQRTAGAPDPAWDWQHATGTAAMTLHAQATGRRRHPARGPHAPGCPELQTLTRPGALRAPRRCNPGPRRSQSQSWKLRPLKRLNRSRSQSQSWNPRLKQNQSRNWSQNRTQSPSPTSRKGTSPKIPEGQSSDRRCPAHAG
"
     misc_feature    215..478
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /note="Caspase recruitment domain; Region: CARD;
                     smart00114"
                     /db_xref="CDD:128424"
     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            488..811
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /inference="alignment:Splign:1.39.8"
     variation       523
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2233458"
     variation       534
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200144674"
     variation       552
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371108668"
     variation       563
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:375028825"
     variation       600
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:2233459"
     variation       698
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377659624"
     variation       719
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375346192"
     variation       745
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367640749"
     variation       767
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371908750"
     variation       770
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201221648"
     variation       778
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201587168"
     STS             783..902
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /standard_name="RH47869"
                     /db_xref="UniSTS:40524"
     variation       789
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368688530"
     variation       807
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:188696118"
     exon            812..1502
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /inference="alignment:Splign:1.39.8"
     variation       830
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377629448"
     variation       848
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199600705"
     variation       855
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201000974"
     STS             869..945
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /standard_name="RH41857"
                     /db_xref="UniSTS:52321"
     variation       869
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2233460"
     variation       946
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:34549032"
     variation       1048
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369479649"
     variation       1083
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:75280012"
     variation       1117
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:8057598"
     variation       1211
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374851015"
     variation       1272
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11548450"
     variation       1315
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369065916"
     variation       1366..1368
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace=""
                     /replace="att"
                     /db_xref="dbSNP:375713230"
     variation       1367..1368
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace=""
                     /replace="tt"
                     /db_xref="dbSNP:368811483"
     variation       1368
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:111417515"
     variation       1450
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372985188"
     variation       1472
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149556040"
     polyA_site      1503
                     /gene="NOL3"
                     /gene_synonym="ARC; FCM; MYP; NOP; NOP30"
ORIGIN      
ggcattcagagagtagatgccagtcctgggaaaggcaggggaggagaggagagccacggctgacgcttggggacagaaggaggagcctgaggaggagacaggacagagcgtctggagaggcaggaggacaccgagttccccgtgttggcctccaggtcctgtgcttgcggagccgtccggcggctgggatcgagccccgacaatgggcaacgcgcaggagcggccgtcagagactatcgaccgcgagcggaaacgcctggtcgagacgctgcaggcggactcgggactgctgttggacgcgctgctggcgcggggcgtgctcaccgggccagagtacgaggcattggatgcactgcctgatgccgagcgcagggtgcgccgcctactgctgctggtgcagggcaagggcgaggccgcctgccaggagctgctacgctgtgcccagcgtaccgcgggcgcgccggaccccgcttgggactggcagcacgctaccgggaccgcagctatgaccctccatgcccaggccactggacgccggaggcacccggctcggggaccacatgccccgggttgcccagagcttcagaccctgacgaggccgggggccctgagggctccgaggcggtgcaatccgggaccccggaggagccagagccagagctggaagctgaggcctctaaagaggctgaaccggagccggagccagagccagagctggaacccgaggctgaagcagaaccagagccggaactggagccagaaccggacccagagcccgagcccgacttcgaggaaagggacgagtccgaagattcctgaaggccagagctctgacaggcggtgccccgcccatgctggataggacctgggatgctgctggagctgaatcggatgccaccaaggctcggtccagcccagtaccgctggaagtgaataaactccggagggtcggacgggacctgggctctctccacgattctggctgtttgcccaggaacttagggtgggtacctctgagtcccagggacctgggcaggcccaagcccaccacgagcatcatccagtcctcagccctaatctgcccttaggagtccaggctgcaccctggagatcccaaacctagccccctagtgggacaaggacctgaccctcctgcccgcatacacaacccatttcccctggtgagccacttggcagcatatgtaggtaccagctcaaccccacgcaagttcctgagctgaacatggagcaaggggagggtgacttctctccacatagggagggcttagagctcacagccttgggaagtgagactagaagaggggagcagaaagggaccttgagtagacaaaggccacacacatcattgtcattactgttttaattgtctggcttctctctggactgggagctcagtgaggattctgaccagtgacttacacaaaaggcgctctatacatattataatatattcgcttactaaatgaataaggactttccaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

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

by @meso_cacase at DBCLS
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