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2024-04-19 19:36:46, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001276311 1416 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD
domain) (NOL3), transcript variant 6, mRNA.
ACCESSION NM_001276311
VERSION NM_001276311.1 GI:443929380
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 1416)
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 1416)
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 1416)
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 1416)
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 1416)
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 1416)
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 1416)
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 1416)
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 1416)
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 1416)
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, BF568452.1 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 (6) uses an alternate splice site
in the CDS compared to variant 1. The resulting protein has the
same N-terminus and then is frame-shifted 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 :: CA488108.1, BF568452.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025083, ERS025087 [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##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-98 DA928396.1 362-459
99-728 BF568452.1 2-631
729-1416 AF064599.1 694-1381
FEATURES Location/Qualifiers
source 1..1416
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="16"
/map="16q22.1"
gene 1..1416
/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..373
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/inference="alignment:Splign:1.39.8"
CDS 203..748
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/note="isoform C is encoded by transcript variant 6;
nucleolar protein of 30 kDa; muscle-enriched cytoplasmic
protein"
/codon_start=1
/product="nucleolar protein 3 isoform C"
/protein_id="NP_001263240.1"
/db_xref="GI:443929381"
/db_xref="GeneID:8996"
/db_xref="HGNC:7869"
/db_xref="MIM:605235"
/translation="
MGNAQERPSETIDRERKRLVETLQADSGLLLDALLARGVLTGPEYEALDALPDAERRATGTAAMTLHAQATGRRRHPARGPHAPGCPELQTLTRPGALRAPRRCNPGPRRSQSQSWKLRPLKRLNRSRSQSQSWNPRLKQNQSRNWSQNRTQSPSPTSRKGTSPKIPEGQSSDRRCPAHAG
"
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"
exon 374..697
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/inference="alignment:Splign:1.39.8"
variation 409
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:2233458"
variation 420
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="c"
/replace="g"
/db_xref="dbSNP:200144674"
variation 438
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:371108668"
variation 449
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="g"
/replace="t"
/db_xref="dbSNP:375028825"
variation 486
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="c"
/replace="g"
/db_xref="dbSNP:2233459"
variation 584
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:377659624"
variation 605
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:375346192"
variation 631
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:367640749"
variation 653
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:371908750"
variation 656
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:201221648"
variation 664
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:201587168"
STS 669..788
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/standard_name="RH47869"
/db_xref="UniSTS:40524"
variation 675
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:368688530"
variation 693
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:188696118"
exon 698..1388
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/inference="alignment:Splign:1.39.8"
variation 716
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:377629448"
variation 734
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:199600705"
variation 741
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="c"
/replace="g"
/db_xref="dbSNP:201000974"
STS 755..831
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/standard_name="RH41857"
/db_xref="UniSTS:52321"
variation 755
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:2233460"
variation 832
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace=""
/replace="g"
/db_xref="dbSNP:34549032"
variation 934
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:369479649"
variation 969
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="a"
/replace="c"
/db_xref="dbSNP:75280012"
variation 1003
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:8057598"
variation 1097
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:374851015"
variation 1158
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:11548450"
variation 1201
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:369065916"
variation 1252..1254
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace=""
/replace="att"
/db_xref="dbSNP:375713230"
variation 1253..1254
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace=""
/replace="tt"
/db_xref="dbSNP:368811483"
variation 1254
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:111417515"
variation 1336
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="a"
/replace="g"
/db_xref="dbSNP:372985188"
variation 1358
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
/replace="c"
/replace="t"
/db_xref="dbSNP:149556040"
polyA_site 1389
/gene="NOL3"
/gene_synonym="ARC; FCM; MYP; NOP; NOP30"
ORIGIN
ggcattcagagagtagatgccagtcctgggaaaggcaggggaggagaggagagccacggctgacgcttggggacagaaggaggagcctgaggaggagacaggacagagcgtctggagaggcaggaggacaccgagttccccgtgttggcctccaggtcctgtgcttgcggagccgtccggcggctgggatcgagccccgacaatgggcaacgcgcaggagcggccgtcagagactatcgaccgcgagcggaaacgcctggtcgagacgctgcaggcggactcgggactgctgttggacgcgctgctggcgcggggcgtgctcaccgggccagagtacgaggcattggatgcactgcctgatgccgagcgcagggctaccgggaccgcagctatgaccctccatgcccaggccactggacgccggaggcacccggctcggggaccacatgccccgggttgcccagagcttcagaccctgacgaggccgggggccctgagggctccgaggcggtgcaatccgggaccccggaggagccagagccagagctggaagctgaggcctctaaagaggctgaaccggagccggagccagagccagagctggaacccgaggctgaagcagaaccagagccggaactggagccagaaccggacccagagcccgagcccgacttcgaggaaagggacgagtccgaagattcctgaaggccagagctctgacaggcggtgccccgcccatgctggataggacctgggatgctgctggagctgaatcggatgccaccaaggctcggtccagcccagtaccgctggaagtgaataaactccggagggtcggacgggacctgggctctctccacgattctggctgtttgcccaggaacttagggtgggtacctctgagtcccagggacctgggcaggcccaagcccaccacgagcatcatccagtcctcagccctaatctgcccttaggagtccaggctgcaccctggagatcccaaacctagccccctagtgggacaaggacctgaccctcctgcccgcatacacaacccatttcccctggtgagccacttggcagcatatgtaggtaccagctcaaccccacgcaagttcctgagctgaacatggagcaaggggagggtgacttctctccacatagggagggcttagagctcacagccttgggaagtgagactagaagaggggagcagaaagggaccttgagtagacaaaggccacacacatcattgtcattactgttttaattgtctggcttctctctggactgggagctcagtgaggattctgaccagtgacttacacaaaaggcgctctatacatattataatatattcgcttactaaatgaataaggactttccaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
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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