Home |
Help |
Advanced search
2024-04-17 04:53:06, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001164817 2529 bp mRNA linear PRI 01-JUL-2013
DEFINITION Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1),
transcript variant 5, mRNA.
ACCESSION NM_001164817
VERSION NM_001164817.1 GI:259906023
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 2529)
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 2529)
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 2529)
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 2529)
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 2529)
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 2529)
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 2529)
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 2529)
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 2529)
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 2529)
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, CX786860.1 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 (5) 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
(5), 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 :: AF124727.1 [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
1-32 AL132780.5 175336-175367 c
33-206 CX786860.1 1-174
207-2529 AF124728.1 136-2458
FEATURES Location/Qualifiers
source 1..2529
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="14"
/map="14q11.2"
gene 1..2529
/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 40..42
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/note="upstream in-frame stop codon"
exon 145..206
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/inference="alignment:Splign:1.39.8"
CDS 184..1935
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/note="isoform 5 is encoded by transcript variant 5;
apoptotic chromatin condensation inducer in the nucleus;
functional spliceosome-associated protein 152"
/codon_start=1
/product="apoptotic chromatin condensation inducer in the
nucleus isoform 5"
/protein_id="NP_001158289.1"
/db_xref="GI:259906024"
/db_xref="CCDS:CCDS53887.1"
/db_xref="GeneID:22985"
/db_xref="HGNC:17066"
/db_xref="MIM:604562"
/translation="
MLSESKEGEEKEEVTMDTSENRPENDVPEPPMPIADQVSNDDRPEGSVEDEEKKESSLPKSFKRKISVVSATKGVPAGNSDTEGGQPGRKRRWGASTATTQKKPSISITTESLKSLIPDIKPLAGQEAVVDLHADDSRISEDETERNGDDGTHDKGLKICRTVTQVVPAEGQENGQREEEEEEKEPEAEPPVPPQVSVEVALPPPAEHEVKKVTLGDTLTRRSISQQKSGVSITIDDPVRTAQVPSPPRGKISNIVHISNLVRPFTLGQLKELLGRTGTLVEEAFWIDKIKSHCFVTYSTVEEAVATRTALHGVKWPQSNPKFLCADYAEQDELDYHRGLLVDRPSETKTEEQGIPRPLHPPPPPPVQPPQHPRAEQREQERAVREQWAEREREMERRERTRSEREWDRDKVREGPRSRSRSRDRRRKERAKSKEKKSEKKEKAQEEPPAKLLDDLFRKTKAAPCIYWLPLTDSQIVQKEAERAERAKEREKRRKEQEEEEQKEREKEAERERNRQLEREKRREHSRERDRERERERERDRGDRDRDRERDRERGRERDRRDTKRHSRSRSRSTPVRDRGGRR
"
misc_feature 949..1128
/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(952..954,1060..1062,1066..1068)
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/note="RNA/DNA binding site [nucleotide binding]; other
site"
/db_xref="CDD:100104"
exon 207..348
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/inference="alignment:Splign:1.39.8"
exon 349..391
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/inference="alignment:Splign:1.39.8"
exon 392..525
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/inference="alignment:Splign:1.39.8"
variation 440
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/replace="a"
/replace="g"
/db_xref="dbSNP:1052671"
exon 526..678
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/inference="alignment:Splign:1.39.8"
exon 679..820
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/inference="alignment:Splign:1.39.8"
exon 821..966
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/inference="alignment:Splign:1.39.8"
exon 967..1074
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/inference="alignment:Splign:1.39.8"
exon 1075..1182
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/inference="alignment:Splign:1.39.8"
STS 1136..1235
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/standard_name="MARC_15355-15356:1013456014:1"
/db_xref="UniSTS:267824"
exon 1183..1507
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/inference="alignment:Splign:1.39.8"
STS 1235..1394
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/standard_name="RH44611"
/db_xref="UniSTS:68317"
exon 1508..1608
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/inference="alignment:Splign:1.39.8"
exon 1609..2519
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/inference="alignment:Splign:1.39.8"
STS 2167..2416
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/standard_name="WI-20153"
/db_xref="UniSTS:16489"
variation 2373
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/replace="c"
/replace="t"
/db_xref="dbSNP:1052881"
variation 2375
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/replace="c"
/replace="t"
/db_xref="dbSNP:1052884"
variation 2414
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/replace="a"
/replace="c"
/db_xref="dbSNP:1052904"
variation 2425
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
/replace="a"
/replace="c"
/db_xref="dbSNP:1052922"
polyA_signal 2495..2500
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
polyA_site 2519
/gene="ACIN1"
/gene_synonym="ACINUS; ACN; fSAP152"
ORIGIN
tgggtaagtggcaagatggctcccctgcatgtctccggctgatcgctgccgctccgccaatacaatagagccagccactaccagcagcctggccctcttcctccttctccagagagaccaatccagccgaactcggggtttgccaaagggataaacagcacttccagggggagaaaaaaaatcatgttatcagaaagcaaagaaggtgaggagaaggaggaagtgaccatggacacaagtgaaaacagacctgaaaatgatgttccagaacctcccatgcctattgcagaccaagtcagcaatgatgaccgcccggagggcagtgttgaagatgaggagaagaaagagagctcgctgcccaaatcattcaagaggaagatctccgttgtctcagctaccaagggggtgccagctggaaacagtgacacagaggggggccagcctggtcggaaacgacgctggggagccagcacagccaccacacagaagaaaccttccatcagtatcaccactgaatcactaaagagcctcatccccgacatcaaacccctggcggggcaggaggctgttgtggatcttcatgctgatgactctcgcatctctgaggatgagacagagcgtaatggcgatgatgggacccatgacaaggggctgaaaatatgccggacagtcactcaggtagtacctgcagagggccaggagaatgggcagagggaagaagaggaagaagagaaggaacctgaagcagaacctcctgtacctccccaggtgtcagtagaggtggccttgcccccacctgcagagcatgaagtaaagaaagtgactttaggagataccttaactcgacgttccattagccagcagaagtccggagtttccattaccattgatgacccagtccgaactgcccaggtgccctccccaccccggggcaagattagcaacattgtccatatctccaatttggtccgtcctttcactttaggccagctaaaggagttgttggggcgcacaggaaccttggtggaagaggccttctggattgacaagatcaaatctcattgctttgtaacgtactcaacagtagaggaagctgttgccacccgcacagctctgcacggggtcaaatggccccagtccaatcccaaattcctttgtgctgactatgccgagcaagatgagctggattatcaccgaggcctcttggtggaccgtccctctgaaactaagacagaggagcagggaataccacggcccctgcaccccccacccccacccccggtccagccaccacagcacccccgggcagagcagcgggagcaggaacgggcagtgcgggaacagtgggcagaacgggaacgggaaatggagcggcgggagcggactcgatcagagcgtgaatgggatcgggacaaagttcgagaagggccccgttcccgatcaaggtcccgtgaccgccgccgcaaggaacgtgcgaagtctaaagaaaagaagagtgagaagaaagagaaagcccaggaggaaccacctgccaagctgctggatgaccttttccgaaagaccaaggcagctccctgcatctattggctcccactgactgacagccagatcgttcagaaagaggcagagcgggccgaacgggccaaggagcgggagaagcggcgaaaggagcaagaagaagaagagcaaaaggagcgggagaaggaagccgagcgggaacggaaccgacagctggagcgagagaaacgtcgggagcacagtcgggagagggacagggagagagagagagaaagggagcgggacaggggggaccgagatcgggatagggaaagggaccgagaacgaggcagggaaagggatcgcagggacaccaagcgccacagcagaagccggagtcggagcacacctgtgcgggaccggggtgggcgccgctagctgggaaaacactagagctgcaggtaccagccactcggccccagggggttatggccacagagggataggcacagtctccaccaccctggagccaagggtctttcacatcacctatccctacatacataccaaatggaaaagtggccatccttttccccccaaacacacccccttaacctatctcttgggacttagcccgaccctccctctcatttcccattaagtctgagaggcaagagctaggttaggcaaggaggtggttggccagagatggggaacagccaggtgccccagtcctctgatttttcctccatcctgcttaccacctccctgggtacttacagccttctcttgggaacagccggggccaggactgggtcacctatgagctgaatcagcatctcctcctgagtcccagggcccctgcagttcccagtctcttctgtcctgcagcccttgcctctttcccacaggttccactttatatccaccttttccttttgttcaatttttatttttattttttttattattaaatgatgtggtctatggaaaaaaaaataaaaatctgacttagttttaaaaaaaaaaaaa
//
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
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.