2024-04-25 23:56:23, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001164816 2467 bp mRNA linear PRI 01-JUL-2013 DEFINITION Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 4, mRNA. ACCESSION NM_001164816 VERSION NM_001164816.1 GI:259906021 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 2467) AUTHORS Park,H.S., Seong,K.M., Kim,J.Y., Kim,C.S., Yang,K.H., Jin,Y.W. and Nam,S.Y. TITLE Chronic low-dose radiation inhibits the cells death by cytotoxic high-dose radiation increasing the level of AKT and acinus proteins via NF-kappaB activation JOURNAL Int. J. Radiat. Biol. 89 (5), 371-377 (2013) PUBMED 23205493 REMARK GeneRIF: Chronic low-dose radiation increases the levels of AKT and acinus proteins via NF-kappaB activation REFERENCE 2 (bases 1 to 2467) AUTHORS Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H., Schreiber,S. and Nebel,A. TITLE Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study JOURNAL Mutat. Res. 694 (1-2), 13-19 (2010) PUBMED 20800603 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 3 (bases 1 to 2467) AUTHORS Chan,C.B., Liu,X., Jang,S.W., Hsu,S.I., Williams,I., Kang,S., Chen,J. and Ye,K. TITLE NGF inhibits human leukemia proliferation by downregulating cyclin A1 expression through promoting acinus/CtBP2 association JOURNAL Oncogene 28 (43), 3825-3836 (2009) PUBMED 19668232 REMARK GeneRIF: Study shows that transcription corepressor CtBP2 directly binds acinus, which is regulated by nerve growth factor (NGF), inhibiting its stimulatory effect on cyclin A1, but not cyclin A2, expression in leukemia. REFERENCE 4 (bases 1 to 2467) AUTHORS Park,H.S., Yun,Y., Kim,C.S., Yang,K.H., Jeong,M., Ahn,S.K., Jin,Y.W. and Nam,S.Y. TITLE A critical role for AKT activation in protecting cells from ionizing radiation-induced apoptosis and the regulation of acinus gene expression JOURNAL Eur. J. Cell Biol. 88 (10), 563-575 (2009) PUBMED 19615784 REMARK GeneRIF: A critical role for AKT activation in protecting cells from ionizing radiation-induced apoptosis and the regulation of acinus gene expression is reported. REFERENCE 5 (bases 1 to 2467) AUTHORS Rigou,P., Piddubnyak,V., Faye,A., Rain,J.C., Michel,L., Calvo,F. and Poyet,J.L. TITLE The antiapoptotic protein AAC-11 interacts with and regulates Acinus-mediated DNA fragmentation JOURNAL EMBO J. 28 (11), 1576-1588 (2009) PUBMED 19387494 REMARK GeneRIF: The authors report here that AAC-11, a survival protein whose expression prevents apoptosis that occurs on deprivation of growth factors, physiologically binds to Acinus and prevents Acinus-mediated DNA fragmentation. REFERENCE 6 (bases 1 to 2467) AUTHORS Joselin,A.P., Schulze-Osthoff,K. and Schwerk,C. TITLE Loss of Acinus inhibits oligonucleosomal DNA fragmentation but not chromatin condensation during apoptosis JOURNAL J. Biol. Chem. 281 (18), 12475-12484 (2006) PUBMED 16537548 REMARK GeneRIF: Acinus is not involved in DNA condensation but rather has a role in internucleosomal DNA cleavage during programmed cell death REFERENCE 7 (bases 1 to 2467) AUTHORS Hu,Y., Yao,J., Liu,Z., Liu,X., Fu,H. and Ye,K. TITLE Akt phosphorylates acinus and inhibits its proteolytic cleavage, preventing chromatin condensation JOURNAL EMBO J. 24 (20), 3543-3554 (2005) PUBMED 16177823 REMARK GeneRIF: Akt phosphorylation of acinus on serine 422 and 573 results in its resistance to caspase cleavage in the nucleus and the inhibition of acinus-dependent chromatin condensation. REFERENCE 8 (bases 1 to 2467) AUTHORS Sordet,O., Rebe,C., Plenchette,S., Zermati,Y., Hermine,O., Vainchenker,W., Garrido,C., Solary,E. and Dubrez-Daloz,L. TITLE Specific involvement of caspases in the differentiation of monocytes into macrophages JOURNAL Blood 100 (13), 4446-4453 (2002) PUBMED 12393560 REFERENCE 9 (bases 1 to 2467) AUTHORS Zermati,Y., Garrido,C., Amsellem,S., Fishelson,S., Bouscary,D., Valensi,F., Varet,B., Solary,E. and Hermine,O. TITLE Caspase activation is required for terminal erythroid differentiation JOURNAL J. Exp. Med. 193 (2), 247-254 (2001) PUBMED 11208865 REFERENCE 10 (bases 1 to 2467) AUTHORS Sahara,S., Aoto,M., Eguchi,Y., Imamoto,N., Yoneda,Y. and Tsujimoto,Y. TITLE Acinus is a caspase-3-activated protein required for apoptotic chromatin condensation JOURNAL Nature 401 (6749), 168-173 (1999) PUBMED 10490026 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL132780.5 and AF124728.1. Summary: Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensation after activation by caspase-3, without inducing DNA fragmentation. This protein has also been shown to be a component of a splicing-dependent multiprotein exon junction complex (EJC) that is deposited at splice junctions on mRNAs, as a consequence of pre-mRNA splicing. It may thus be involved in mRNA metabolism associated with splicing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]. Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4), also known as ACINUS-S', has a distinct N-terminus and is shorter than isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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 :: AF124728.1 [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 1-9 AL132780.5 175359-175367 c 10-2467 AF124728.1 1-2458 FEATURES Location/Qualifiers source 1..2467 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="14" /map="14q11.2" gene 1..2467 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /note="apoptotic chromatin condensation inducer 1" /db_xref="GeneID:22985" /db_xref="HGNC:17066" /db_xref="MIM:604562" exon 1..144 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /inference="alignment:Splign:1.39.8" misc_feature 5..7 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /note="upstream in-frame stop codon" CDS 29..1873 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /note="isoform 4 is encoded by transcript variant 4; apoptotic chromatin condensation inducer in the nucleus; functional spliceosome-associated protein 152" /codon_start=1 /product="apoptotic chromatin condensation inducer in the nucleus isoform 4" /protein_id="NP_001158288.1" /db_xref="GI:259906022" /db_xref="CCDS:CCDS53888.1" /db_xref="GeneID:22985" /db_xref="HGNC:17066" /db_xref="MIM:604562" /translation="
MSPADRCRSANTIEPATTSSLALFLLLQRDQSSRTRGLPEEKEEVTMDTSENRPENDVPEPPMPIADQVSNDDRPEGSVEDEEKKESSLPKSFKRKISVVSATKGVPAGNSDTEGGQPGRKRRWGASTATTQKKPSISITTESLKSLIPDIKPLAGQEAVVDLHADDSRISEDETERNGDDGTHDKGLKICRTVTQVVPAEGQENGQREEEEEEKEPEAEPPVPPQVSVEVALPPPAEHEVKKVTLGDTLTRRSISQQKSGVSITIDDPVRTAQVPSPPRGKISNIVHISNLVRPFTLGQLKELLGRTGTLVEEAFWIDKIKSHCFVTYSTVEEAVATRTALHGVKWPQSNPKFLCADYAEQDELDYHRGLLVDRPSETKTEEQGIPRPLHPPPPPPVQPPQHPRAEQREQERAVREQWAEREREMERRERTRSEREWDRDKVREGPRSRSRSRDRRRKERAKSKEKKSEKKEKAQEEPPAKLLDDLFRKTKAAPCIYWLPLTDSQIVQKEAERAERAKEREKRRKEQEEEEQKEREKEAERERNRQLEREKRREHSRERDRERERERERDRGDRDRDRERDRERGRERDRRDTKRHSRSRSRSTPVRDRGGRR
" misc_feature 887..1066 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /note="RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA...; Region: RRM; cd00590" /db_xref="CDD:100104" misc_feature order(890..892,998..1000,1004..1006) /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /note="RNA/DNA binding site [nucleotide binding]; other site" /db_xref="CDD:100104" exon 145..286 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /inference="alignment:Splign:1.39.8" exon 287..329 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /inference="alignment:Splign:1.39.8" exon 330..463 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /inference="alignment:Splign:1.39.8" variation 378 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /replace="a" /replace="g" /db_xref="dbSNP:1052671" exon 464..616 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /inference="alignment:Splign:1.39.8" exon 617..758 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /inference="alignment:Splign:1.39.8" exon 759..904 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /inference="alignment:Splign:1.39.8" exon 905..1012 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /inference="alignment:Splign:1.39.8" exon 1013..1120 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /inference="alignment:Splign:1.39.8" STS 1074..1173 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /standard_name="MARC_15355-15356:1013456014:1" /db_xref="UniSTS:267824" exon 1121..1445 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /inference="alignment:Splign:1.39.8" STS 1173..1332 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /standard_name="RH44611" /db_xref="UniSTS:68317" exon 1446..1546 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /inference="alignment:Splign:1.39.8" exon 1547..2457 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /inference="alignment:Splign:1.39.8" STS 2105..2354 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /standard_name="WI-20153" /db_xref="UniSTS:16489" variation 2311 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /replace="c" /replace="t" /db_xref="dbSNP:1052881" variation 2313 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /replace="c" /replace="t" /db_xref="dbSNP:1052884" variation 2352 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /replace="a" /replace="c" /db_xref="dbSNP:1052904" variation 2363 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" /replace="a" /replace="c" /db_xref="dbSNP:1052922" polyA_signal 2433..2438 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" polyA_site 2457 /gene="ACIN1" /gene_synonym="ACINUS; ACN; fSAP152" ORIGIN
tgggtaagtggcaagatggctcccctgcatgtctccggctgatcgctgccgctccgccaatacaatagagccagccactaccagcagcctggccctcttcctccttctccagagagaccaatccagccgaactcggggtttgcctgaggagaaggaggaagtgaccatggacacaagtgaaaacagacctgaaaatgatgttccagaacctcccatgcctattgcagaccaagtcagcaatgatgaccgcccggagggcagtgttgaagatgaggagaagaaagagagctcgctgcccaaatcattcaagaggaagatctccgttgtctcagctaccaagggggtgccagctggaaacagtgacacagaggggggccagcctggtcggaaacgacgctggggagccagcacagccaccacacagaagaaaccttccatcagtatcaccactgaatcactaaagagcctcatccccgacatcaaacccctggcggggcaggaggctgttgtggatcttcatgctgatgactctcgcatctctgaggatgagacagagcgtaatggcgatgatgggacccatgacaaggggctgaaaatatgccggacagtcactcaggtagtacctgcagagggccaggagaatgggcagagggaagaagaggaagaagagaaggaacctgaagcagaacctcctgtacctccccaggtgtcagtagaggtggccttgcccccacctgcagagcatgaagtaaagaaagtgactttaggagataccttaactcgacgttccattagccagcagaagtccggagtttccattaccattgatgacccagtccgaactgcccaggtgccctccccaccccggggcaagattagcaacattgtccatatctccaatttggtccgtcctttcactttaggccagctaaaggagttgttggggcgcacaggaaccttggtggaagaggccttctggattgacaagatcaaatctcattgctttgtaacgtactcaacagtagaggaagctgttgccacccgcacagctctgcacggggtcaaatggccccagtccaatcccaaattcctttgtgctgactatgccgagcaagatgagctggattatcaccgaggcctcttggtggaccgtccctctgaaactaagacagaggagcagggaataccacggcccctgcaccccccacccccacccccggtccagccaccacagcacccccgggcagagcagcgggagcaggaacgggcagtgcgggaacagtgggcagaacgggaacgggaaatggagcggcgggagcggactcgatcagagcgtgaatgggatcgggacaaagttcgagaagggccccgttcccgatcaaggtcccgtgaccgccgccgcaaggaacgtgcgaagtctaaagaaaagaagagtgagaagaaagagaaagcccaggaggaaccacctgccaagctgctggatgaccttttccgaaagaccaaggcagctccctgcatctattggctcccactgactgacagccagatcgttcagaaagaggcagagcgggccgaacgggccaaggagcgggagaagcggcgaaaggagcaagaagaagaagagcaaaaggagcgggagaaggaagccgagcgggaacggaaccgacagctggagcgagagaaacgtcgggagcacagtcgggagagggacagggagagagagagagaaagggagcgggacaggggggaccgagatcgggatagggaaagggaccgagaacgaggcagggaaagggatcgcagggacaccaagcgccacagcagaagccggagtcggagcacacctgtgcgggaccggggtgggcgccgctagctgggaaaacactagagctgcaggtaccagccactcggccccagggggttatggccacagagggataggcacagtctccaccaccctggagccaagggtctttcacatcacctatccctacatacataccaaatggaaaagtggccatccttttccccccaaacacacccccttaacctatctcttgggacttagcccgaccctccctctcatttcccattaagtctgagaggcaagagctaggttaggcaaggaggtggttggccagagatggggaacagccaggtgccccagtcctctgatttttcctccatcctgcttaccacctccctgggtacttacagccttctcttgggaacagccggggccaggactgggtcacctatgagctgaatcagcatctcctcctgagtcccagggcccctgcagttcccagtctcttctgtcctgcagcccttgcctctttcccacaggttccactttatatccaccttttccttttgttcaatttttatttttattttttttattattaaatgatgtggtctatggaaaaaaaaataaaaatctgacttagttttaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:22985 -> Molecular function: GO:0000166 [nucleotide binding] evidence: IEA GeneID:22985 -> Molecular function: GO:0003676 [nucleic acid binding] evidence: NAS GeneID:22985 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:22985 -> Molecular function: GO:0016887 [ATPase activity] evidence: NAS GeneID:22985 -> Molecular function: GO:0019899 [enzyme binding] evidence: NAS GeneID:22985 -> Biological process: GO:0006200 [ATP catabolic process] evidence: NAS GeneID:22985 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:22985 -> Biological process: GO:0006921 [cellular component disassembly involved in execution phase of apoptosis] evidence: TAS GeneID:22985 -> Biological process: GO:0030218 [erythrocyte differentiation] evidence: IEP GeneID:22985 -> Biological process: GO:0030263 [apoptotic chromosome condensation] evidence: IDA GeneID:22985 -> Biological process: GO:0045657 [positive regulation of monocyte differentiation] evidence: IEP GeneID:22985 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:22985 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA GeneID:22985 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:22985 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:22985 -> Cellular component: GO:0016607 [nuclear speck] evidence: IEA
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