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2024-04-23 15:24:29, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004401 2053 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens DNA fragmentation factor, 45kDa, alpha polypeptide
(DFFA), transcript variant 1, mRNA.
ACCESSION NM_004401
VERSION NM_004401.2 GI:47132578
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 2053)
AUTHORS Leu,S., Lin,Y.M., Wu,C.H. and Ouyang,P.
TITLE Loss of Pnn expression results in mouse early embryonic lethality
and cellular apoptosis through SRSF1-mediated alternative
expression of Bcl-xS and ICAD
JOURNAL J. Cell. Sci. 125 (PT 13), 3164-3172 (2012)
PUBMED 22454513
REMARK GeneRIF: mRNA splicing is actively driven toward the pro-apoptotic
isoforms of Bim, Bcl-x, and ICAD in Pnn-depleted MCF-7 cells.
REFERENCE 2 (bases 1 to 2053)
AUTHORS Banas,T., Basta,P., Knafel,A., Skotniczny,K., Jach,R.,
Hajdyla-Banas,I. and Grabowska,O.
TITLE DFF45 expression in human endometrium is associated with menstrual
cycle phases and decreases after menopause
JOURNAL Gynecol. Obstet. Invest. 73 (3), 177-182 (2012)
PUBMED 22378161
REMARK GeneRIF: The DFF45 level in human endometrium corresponds to the
respective phase of the menstrual cycle and decreases significantly
after menopause.
REFERENCE 3 (bases 1 to 2053)
AUTHORS Ninios,Y.P., Sekeri-Pataryas,K.E. and Sourlingas,T.G.
TITLE Histone H1 subtype preferences of DFF40 and possible nuclear
localization of DFF40/45 in normal and trichostatin A-treated NB4
leukemic cells
JOURNAL Apoptosis 15 (2), 128-138 (2010)
PUBMED 19882353
REMARK GeneRIF: The heterodimer, DFF40-DFF45, is localized to the
chromatin fraction under apoptotic as well as non-apoptotic
conditions.
REFERENCE 4 (bases 1 to 2053)
AUTHORS Zhang,J., Guo,H., Qian,G., Ge,S., Ji,H., Hu,X. and Chen,W.
TITLE MiR-145, a new regulator of the DNA fragmentation factor-45
(DFF45)-mediated apoptotic network
JOURNAL Mol. Cancer 9, 211 (2010)
PUBMED 20687965
REMARK GeneRIF: study reveals a previously unrecognized function of
miR-145 in DFF45 processing, which may underlie crucial aspects of
cancer biology
Publication Status: Online-Only
REFERENCE 5 (bases 1 to 2053)
AUTHORS Banas,T., Skotniczny,K. and Basta,A.
TITLE DFF45 expression in ovarian endometriomas
JOURNAL Eur. J. Obstet. Gynecol. Reprod. Biol. 146 (1), 87-91 (2009)
PUBMED 19535198
REMARK GeneRIF: A decreased level of DFF45 observed in ovarian
endometriosis may be a part of an apoptosis-resistant mechanism
enhancing the disease progression.
REFERENCE 6 (bases 1 to 2053)
AUTHORS Liu,X., Zou,H., Widlak,P., Garrard,W. and Wang,X.
TITLE Activation of the apoptotic endonuclease DFF40 (caspase-activated
DNase or nuclease). Oligomerization and direct interaction with
histone H1
JOURNAL J. Biol. Chem. 274 (20), 13836-13840 (1999)
PUBMED 10318789
REFERENCE 7 (bases 1 to 2053)
AUTHORS Inohara,N., Koseki,T., Chen,S., Wu,X. and Nunez,G.
TITLE CIDE, a novel family of cell death activators with homology to the
45 kDa subunit of the DNA fragmentation factor
JOURNAL EMBO J. 17 (9), 2526-2533 (1998)
PUBMED 9564035
REFERENCE 8 (bases 1 to 2053)
AUTHORS Enari,M., Sakahira,H., Yokoyama,H., Okawa,K., Iwamatsu,A. and
Nagata,S.
TITLE A caspase-activated DNase that degrades DNA during apoptosis, and
its inhibitor ICAD
JOURNAL Nature 391 (6662), 43-50 (1998)
PUBMED 9422506
REMARK Erratum:[Nature 1998 May 28;393(6683):396]
REFERENCE 9 (bases 1 to 2053)
AUTHORS Liu,X., Zou,H., Slaughter,C. and Wang,X.
TITLE DFF, a heterodimeric protein that functions downstream of caspase-3
to trigger DNA fragmentation during apoptosis
JOURNAL Cell 89 (2), 175-184 (1997)
PUBMED 9108473
REFERENCE 10 (bases 1 to 2053)
AUTHORS Leek,J.P., Carr,I.M., Bell,S.M., Markham,A.F. and Lench,N.J.
TITLE Assignment of the DNA fragmentation factor gene (DFFA) to human
chromosome bands 1p36.3-->p36.2 by in situ hybridization
JOURNAL Cytogenet. Cell Genet. 79 (3-4), 212-213 (1997)
PUBMED 9605855
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AU121791.1, BC007112.1,
BC000037.2 and BC007721.2.
This sequence is a reference standard in the RefSeqGene project.
On May 12, 2004 this sequence version replaced gi:4758147.
Summary: Apoptosis is a cell death process that removes toxic
and/or useless cells during mammalian development. The apoptotic
process is accompanied by shrinkage and fragmentation of the cells
and nuclei and degradation of the chromosomal DNA into nucleosomal
units. DNA fragmentation factor (DFF) is a heterodimeric protein of
40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for
caspase-3 and triggers DNA fragmentation during apoptosis. DFF
becomes activated when DFFA is cleaved by caspase-3. The cleaved
fragments of DFFA dissociate from DFFB, the active component of
DFF. DFFB has been found to trigger both DNA fragmentation and
chromatin condensation during apoptosis. Two alternatively spliced
transcript variants encoding distinct isoforms have been found for
this gene. [provided by RefSeq, Jul 2008].
Transcript Variant: This variant (1) represents the shorter
transcript but encodes the longer isoform (1).
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 :: BC007721.2, U91985.1 [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
1-31 AU121791.1 1-31
32-1498 BC007112.1 3-1469
1499-1676 BC000037.2 1419-1596
1677-2053 BC007721.2 1608-1984
FEATURES Location/Qualifiers
source 1..2053
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p36.3-p36.2"
gene 1..2053
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/note="DNA fragmentation factor, 45kDa, alpha polypeptide"
/db_xref="GeneID:1676"
/db_xref="HGNC:2772"
/db_xref="HPRD:03531"
/db_xref="MIM:601882"
exon 1..234
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/inference="alignment:Splign:1.39.8"
CDS 99..1094
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/note="isoform 1 is encoded by transcript variant 1;
DFF45; inhibitor of CAD; DNA fragmentation factor 45 kDa
subunit"
/codon_start=1
/product="DNA fragmentation factor subunit alpha isoform
1"
/protein_id="NP_004392.1"
/db_xref="GI:4758148"
/db_xref="CCDS:CCDS118.1"
/db_xref="GeneID:1676"
/db_xref="HGNC:2772"
/db_xref="HPRD:03531"
/db_xref="MIM:601882"
/translation="
MEVTGDAGVPESGEIRTLKPCLLRRNYSREQHGVAASCLEDLRSKACDILAIDKSLTPVTLVLAEDGTIVDDDDYFLCLPSNTKFVALASNEKWAYNNSDGGTAWISQESFDVDETDSGAGLKWKNVARQLKEDLSSIILLSEEDLQMLVDAPCSDLAQELRQSCATVQRLQHTLQQVLDQREEVRQSKQLLQLYLQALEKEGSLLSKQEESKAAFGEEVDAVDTGISRETSSDVALASHILTALREKQAPELSLSSQDLELVTKEDPKALAVALNWDIKKTETVQEACERELALRLQQTQSLHSLRSISASKASPPGDLQNPKRARQDPT
"
misc_feature 99..101
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/experiment="experimental evidence, no additional details
recorded"
/note="N-acetylmethionine; propagated from
UniProtKB/Swiss-Prot (O00273.1); acetylation site"
misc_feature 150..386
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/note="CIDE_N domain of ICAD. The CIDE_N (cell
death-inducing DFF45-like effector, N-terminal) domain is
found at the N-terminus of the CAD nuclease
(caspase-activated DNase/DNA fragmentation factor, DFF40)
and its inhibitor, ICAD (DFF45). These proteins are...;
Region: CIDE_N_ICAD; cd06536"
/db_xref="CDD:119369"
misc_feature order(294..296,300..314,318..323,378..380,384..386)
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/note="CAD/ICAD heterodimer interaction site [polypeptide
binding]; other site"
/db_xref="CDD:119369"
misc_feature 396..893
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/note="DNA Fragmentation factor 45kDa, C terminal domain;
Region: DFF-C; pfam09033"
/db_xref="CDD:192196"
misc_feature 447..452
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/experiment="experimental evidence, no additional details
recorded"
/note="Cleavage, by caspase-3; propagated from
UniProtKB/Swiss-Prot (O00273.1); cleavage site"
misc_feature 447..449
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/citation=[9]
/db_xref="HPRD:02799"
misc_feature 447..449
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/db_xref="HPRD:00476"
misc_feature 768..773
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/experiment="experimental evidence, no additional details
recorded"
/note="Cleavage, by caspase-3; propagated from
UniProtKB/Swiss-Prot (O00273.1); cleavage site"
misc_feature 768..770
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/citation=[9]
/db_xref="HPRD:02799"
misc_feature 768..770
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/db_xref="HPRD:00476"
misc_feature 1041..1043
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(O00273.1); phosphorylation site"
misc_feature 1041..1043
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
exon 235..396
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/inference="alignment:Splign:1.39.8"
variation 281
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/replace="g"
/replace="t"
/db_xref="dbSNP:1057017"
exon 397..539
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/inference="alignment:Splign:1.39.8"
exon 540..729
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/inference="alignment:Splign:1.39.8"
exon 730..881
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/inference="alignment:Splign:1.39.8"
exon 882..2053
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/inference="alignment:Splign:1.39.8"
STS 1172..1293
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/standard_name="SHGC-74201"
/db_xref="UniSTS:2273"
variation 1242
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/replace="a"
/replace="g"
/db_xref="dbSNP:3829642"
variation 1376
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/replace="g"
/replace="t"
/db_xref="dbSNP:664947"
variation 1387
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1057026"
variation 1441
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1135131"
STS 1481..1951
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/standard_name="D8S2279"
/db_xref="UniSTS:473907"
STS 1481..1572
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/standard_name="D8S2279"
/db_xref="UniSTS:473907"
polyA_site 1508
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/experiment="experimental evidence, no additional details
recorded"
variation 1537..1538
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1135136"
STS 1552..1800
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/standard_name="GDB:434012"
/db_xref="UniSTS:157204"
STS 1913..1982
/gene="DFFA"
/gene_synonym="DFF-45; DFF1; ICAD"
/standard_name="D1S1423"
/db_xref="UniSTS:149619"
ORIGIN
acatctcccggcaggctgcggaagggggtcgagtagaaggaccgccgctccggcctcccgcgacttctcgaaggtgggcaggtcccaccttgtggaggatggaggtgaccggggacgccggggtaccagaatctggcgagatccggactctaaagccgtgtctgctgcgccgcaactacagccgcgaacagcacggcgtggccgcctcctgcctcgaagacctgaggagcaaggcctgtgacattctggccattgataagtccctgacaccagtcaccctggtcctggcagaggatggcaccatagtggatgatgacgattactttctgtgtctaccttccaatactaagtttgtggcattggctagtaatgagaaatgggcatacaacaattcagatggaggtacagcttggatttcccaagagtcctttgatgtagatgaaacagacagcggggcagggttgaagtggaagaatgtggccaggcagctgaaagaagatctgtccagcatcatcctcctatcagaggaggacctccagatgcttgttgacgctccctgctcagacctggctcaggaactacgtcagagttgtgccaccgtccagcggctgcagcacacactccaacaggtgcttgaccaaagagaggaagtgcgtcagtccaagcagctcctgcagctgtacctccaggctttggagaaagagggcagcctcttgtcaaagcaggaagagtccaaagctgcctttggtgaggaggtggatgcagtagacacgggtatcagcagagagacctcctcggacgttgcgctggcgagccacatccttactgcactgagggagaagcaggctccagagctgagcttatctagtcaggatttggagttggttaccaaggaagaccccaaagcactggctgttgccttgaactgggacataaagaagacggagactgttcaggaggcctgtgagcgggagctcgccctgcgcctgcagcagacgcagagcttgcattctctccggagcatctcagcaagcaaggcctcaccacctggtgacctgcagaatcctaagcgagccagacaggatcccacatagcagcagcgggaagtgtgccaaggaagctctgtggcgttgtgttattggtagacaccctcagcctcatcatttgactacctatgtactactctaccccctgccttagagcaccttccagagaagctattccaggtctcaacatacgccgttccaccaattttttttttagccccaccagcttcaggacttctgccaattttgaatgatatagctgcaccaacaatatcccgcctcctctaattacatatgatgttctctgttcaaaagtaattggcagtgattggccaggcgcagtggctcacgcctgtaatcccagcactgggaggccgaggggggcggatcgtgaagtcaggagatcgagaccatcctggctaacatggtgaaaccctgtctctactaaaaatacaaaaaaaattagccagccatggtggcgggcgcctgtaatcccagctacttgggaggctgaggcaggagaatggcatgaacctgggaggcagagcttgcagtgagctgagattgcgccactgcactccagcctgggcaacagagcgagactccgtctcaaaaaaaaaaaaaaaaaaagtaattggcagtgactatgggcgcactgcctaacatttagccctgccccatatggaacatgttaaaaaaaaaaaaagccaggccgagcgtgttggctcacgcttgtaatcccagcactttgggaggccgaggcgggtggatcacgaggtcaggagatcgagaccatcctggctaacacagtgaaacgtgtttttactaaaagtacaaaaaactagctgggcgtggtggcaggagcctgtagtcccagctactcgggaggctgaggcaggagaattgcttgaaccggggaggcagaagttgcagtgagccgagattatgccactgtactccagcctgggtgacagagtgacactctgtctcaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:1676 -> Molecular function: GO:0004536 [deoxyribonuclease activity] evidence: TAS
GeneID:1676 -> Biological process: GO:0006309 [apoptotic DNA fragmentation] evidence: IDA
GeneID:1676 -> Biological process: GO:0006309 [apoptotic DNA fragmentation] evidence: TAS
GeneID:1676 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:1676 -> Biological process: GO:0006917 [induction of apoptosis] evidence: IEA
GeneID:1676 -> Biological process: GO:0006921 [cellular component disassembly involved in execution phase of apoptosis] evidence: TAS
GeneID:1676 -> Biological process: GO:0035556 [intracellular signal transduction] evidence: TAS
GeneID:1676 -> Biological process: GO:1900118 [negative regulation of execution phase of apoptosis] evidence: IDA
GeneID:1676 -> Cellular component: GO:0000790 [nuclear chromatin] evidence: IDA
GeneID:1676 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:1676 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
GeneID:1676 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:1676 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
by
@meso_cacase at
DBCLS
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