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2024-04-18 12:54:06, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001199742 1160 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens growth arrest and DNA-damage-inducible, alpha
(GADD45A), transcript variant 3, mRNA.
ACCESSION NM_001199742
VERSION NM_001199742.1 GI:315075324
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 1160)
AUTHORS Kim,H.L., Kim,S.U. and Seo,Y.R.
TITLE A novel role for Gadd45alpha in base excision repair: modulation of
APE1 activity by the direct interaction of Gadd45alpha with PCNA
JOURNAL Biochem. Biophys. Res. Commun. 434 (2), 185-190 (2013)
PUBMED 23485469
REMARK GeneRIF: Proliferating cell nuclear antigen (PCNA) binding site on
Gadd45alpha plays a critical role in modulating the interaction
with PCNA and APE1, affecting base excision repair.
REFERENCE 2 (bases 1 to 1160)
AUTHORS Cheng,D., Zhao,L., Zhang,L., Jiang,Y., Tian,Y., Xiao,X. and Gong,G.
TITLE p53 controls hepatitis C virus non-structural protein 5A-mediated
downregulation of GADD45alpha expression via the NF-kappaB and
PI3K-Akt pathways
JOURNAL J. Gen. Virol. 94 (PT 2), 326-335 (2013)
PUBMED 23114628
REMARK GeneRIF: Hepatitis C virus NS5A repressed p53 expression, which was
followed by a subsequent decrease in GADD45alpha expression, which
triggered cellular proliferation.
REFERENCE 3 (bases 1 to 1160)
AUTHORS Notas,G., Alexaki,V.I., Kampa,M., Pelekanou,V.,
Charalampopoulos,I., Sabour-Alaoui,S., Pediaditakis,I.,
Dessirier,V., Gravanis,A., Stathopoulos,E.N., Tsapis,A. and
Castanas,E.
TITLE APRIL binding to BCMA activates a JNK2-FOXO3-GADD45 pathway and
induces a G2/M cell growth arrest in liver cells
JOURNAL J. Immunol. 189 (10), 4748-4758 (2012)
PUBMED 23071284
REMARK GeneRIF: the effect of APRIL is mediated via BCMA, which does not
activate the classical NF-kappaB pathway, whereas it induces a
novel signaling pathway, which involves JNK2 phosphorylation,
FOXO3A activation, and GADD45 transcription
REFERENCE 4 (bases 1 to 1160)
AUTHORS Wang,N., Yang,C., Xie,F., Sun,L., Su,X., Wang,Y., Wei,R., Zhang,R.,
Li,X., Yang,B. and Ai,J.
TITLE Gadd45alpha: a novel diabetes-associated gene potentially linking
diabetic cardiomyopathy and baroreflex dysfunction
JOURNAL PLoS ONE 7 (12), E49077 (2012)
PUBMED 23227140
REMARK GeneRIF: reduced Gadd45alpha protein expression by forced miR-499
expression indicated it's a diabetes-associated gene which might
potentially be involved in both DCM and DM-induced baroreflex
dysfunction
REFERENCE 5 (bases 1 to 1160)
AUTHORS Sarkisian,M.R. and Siebzehnrubl,D.
TITLE Abnormal levels of Gadd45alpha in developing neocortex impair
neurite outgrowth
JOURNAL PLoS ONE 7 (9), E44207 (2012)
PUBMED 22970179
REMARK GeneRIF: The expression of Gadd45a in normal, developing brain is
tightly regulated.
REFERENCE 6 (bases 1 to 1160)
AUTHORS Chen,I.T., Smith,M.L., O'Connor,P.M. and Fornace,A.J. Jr.
TITLE Direct interaction of Gadd45 with PCNA and evidence for competitive
interaction of Gadd45 and p21Waf1/Cip1 with PCNA
JOURNAL Oncogene 11 (10), 1931-1937 (1995)
PUBMED 7478510
REFERENCE 7 (bases 1 to 1160)
AUTHORS Kearsey,J.M., Coates,P.J., Prescott,A.R., Warbrick,E. and Hall,P.A.
TITLE Gadd45 is a nuclear cell cycle regulated protein which interacts
with p21Cip1
JOURNAL Oncogene 11 (9), 1675-1683 (1995)
PUBMED 7478594
REFERENCE 8 (bases 1 to 1160)
AUTHORS Carrier,F., Smith,M.L., Bae,I., Kilpatrick,K.E., Lansing,T.J.,
Chen,C.Y., Engelstein,M., Friend,S.H., Henner,W.D., Gilmer,T.M. et
al.
TITLE Characterization of human Gadd45, a p53-regulated protein
JOURNAL J. Biol. Chem. 269 (51), 32672-32677 (1994)
PUBMED 7798274
REFERENCE 9 (bases 1 to 1160)
AUTHORS Smith,M.L., Chen,I.T., Zhan,Q., Bae,I., Chen,C.Y., Gilmer,T.M.,
Kastan,M.B., O'Connor,P.M. and Fornace,A.J. Jr.
TITLE Interaction of the p53-regulated protein Gadd45 with proliferating
cell nuclear antigen
JOURNAL Science 266 (5189), 1376-1380 (1994)
PUBMED 7973727
REFERENCE 10 (bases 1 to 1160)
AUTHORS Papathanasiou,M.A., Kerr,N.C., Robbins,J.H., McBride,O.W., Alamo,I.
Jr., Barrett,S.F., Hickson,I.D. and Fornace,A.J. Jr.
TITLE Induction by ionizing radiation of the gadd45 gene in cultured
human cells: lack of mediation by protein kinase C
JOURNAL Mol. Cell. Biol. 11 (2), 1009-1016 (1991)
PUBMED 1990262
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AK314991.1, EF581092.1 and
BU629410.1.
Summary: This gene is a member of a group of genes whose transcript
levels are increased following stressful growth arrest conditions
and treatment with DNA-damaging agents. The protein encoded by this
gene responds to environmental stresses by mediating activation of
the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced
transcription of this gene is mediated by both p53-dependent and
-independent mechanisms. Alternatively spliced transcript variants
encoding distinct isoforms have been found for this gene.[provided
by RefSeq, Dec 2010].
Transcript Variant: This variant (3) lacks a coding exon, as
compared to variant 1. The resulting isoform (3) has a shorter and
distinct C-terminus, as compared to 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 :: EF581092.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-37 AK314991.1 1-37
38-791 EF581092.1 1-754
792-1160 BU629410.1 1-369 c
FEATURES Location/Qualifiers
source 1..1160
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p31.2"
gene 1..1160
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/note="growth arrest and DNA-damage-inducible, alpha"
/db_xref="GeneID:1647"
/db_xref="HGNC:4095"
/db_xref="MIM:126335"
exon 1..362
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/inference="alignment:Splign:1.39.8"
variation 8
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="g"
/replace="t"
/db_xref="dbSNP:4987169"
variation 39
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="a"
/replace="t"
/db_xref="dbSNP:1397946"
variation 72
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="g"
/replace="t"
/db_xref="dbSNP:3783460"
variation 118
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="a"
/replace="g"
/db_xref="dbSNP:3783461"
variation 178..188
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace=""
/replace="ggggcggccgg"
/db_xref="dbSNP:201634735"
variation 219
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace=""
/replace="gc"
/db_xref="dbSNP:71725777"
misc_feature 229..231
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/note="upstream in-frame stop codon"
variation 288
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="c"
/replace="t"
/db_xref="dbSNP:376268952"
CDS 319..501
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/note="isoform 3 is encoded by transcript variant 3; DNA
damage-inducible transcript-1; DNA-damage-inducible
transcript 1; growth arrest and DNA damage-inducible
protein GADD45 alpha; growth arrest and
DNA-damage-inducible 45 alpha; DDIT-1; DNA
damage-inducible transcript 1 protein"
/codon_start=1
/product="growth arrest and DNA damage-inducible protein
GADD45 alpha isoform 3"
/protein_id="NP_001186671.1"
/db_xref="GI:315075325"
/db_xref="GeneID:1647"
/db_xref="HGNC:4095"
/db_xref="MIM:126335"
/translation="
MTLEEFSAGEQKTERMDKVGDALEEVLSKALSQRTITVGVYEAAKLLNVIHIHLNGRILP
"
misc_feature 319..366
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P24522.1);
Region: Intrinsically disordered"
misc_feature 379..>462
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/note="Ribosomal protein L7Ae/L30e/S12e/Gadd45 family;
Region: Ribosomal_L7Ae; cl00600"
/db_xref="CDD:241972"
variation 343
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="a"
/replace="g"
/db_xref="dbSNP:11544978"
exon 363..464
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/inference="alignment:Splign:1.39.8"
variation 385
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="c"
/replace="t"
/db_xref="dbSNP:146686679"
variation 423
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="g"
/replace="t"
/db_xref="dbSNP:200118104"
variation 426
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="c"
/replace="t"
/db_xref="dbSNP:373445623"
variation 430
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="c"
/replace="g"
/db_xref="dbSNP:146431497"
variation 435
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="a"
/replace="g"
/db_xref="dbSNP:141754575"
exon 465..1142
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/inference="alignment:Splign:1.39.8"
variation 531
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="c"
/replace="t"
/db_xref="dbSNP:374030083"
variation 569
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="g"
/replace="t"
/db_xref="dbSNP:377371124"
variation 572
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="a"
/replace="g"
/db_xref="dbSNP:3783478"
variation 573
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="c"
/replace="t"
/db_xref="dbSNP:374796115"
variation 605
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="c"
/replace="t"
/db_xref="dbSNP:3783479"
STS 608..947
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/standard_name="D1S3318"
/db_xref="UniSTS:21124"
variation 639
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="a"
/replace="g"
/db_xref="dbSNP:829"
variation 650
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="a"
/replace="c"
/db_xref="dbSNP:2620"
variation 668
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="c"
/replace="t"
/db_xref="dbSNP:830"
STS 672..928
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/standard_name="SHGC-74965"
/db_xref="UniSTS:14800"
variation 699
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="c"
/replace="g"
/db_xref="dbSNP:828"
variation 756
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="a"
/replace="g"
/db_xref="dbSNP:1803610"
variation 790
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="a"
/replace="g"
/db_xref="dbSNP:113013145"
variation 799..800
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace=""
/replace="g"
/db_xref="dbSNP:3783480"
variation 824
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="a"
/replace="t"
/db_xref="dbSNP:184525319"
variation 830
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="c"
/replace="t"
/db_xref="dbSNP:2622"
variation 856
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="a"
/replace="g"
/db_xref="dbSNP:2621"
variation 862
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="g"
/replace="t"
/db_xref="dbSNP:4633263"
variation 1101
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
/replace="a"
/replace="c"
/db_xref="dbSNP:1050817"
polyA_signal 1112..1117
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
polyA_site 1142
/gene="GADD45A"
/gene_synonym="DDIT1; GADD45"
ORIGIN
ggagagcggggccctttgtcctccagtggctggtaggcagtggctgggaggcagcggcccaattagtgtcgtgcggcccgtggcgaggcgaggtccggggagcgagcgagcaagcaaggcgggaggggtggccggagctgcggcggctggcacaggaggaggagcccgggcgggcgaggggcggccggagagcgccagggcctgagctgccggagcggcgcctgtgagtgagtgcagaaagcaggcgcccgcgcgctagccgtggcaggagcagcccgcacgccgcgctctctccctgggcgacctgcagtttgcaatatgactttggaggaattctcggctggagagcagaagaccgaaaggatggataaggtgggggatgccctggaggaagtgctcagcaaagccctgagtcagcgcacgatcactgtcggggtgtacgaagcggccaagctgctcaacgtaatccacattcatctcaatggaaggatcctgccttaagtcaacttatttgtttttgccgggaaagtcgctacatggatcaatgggttccagtgattaatctccctgaacggtgatggcatctgaatgaaaataactgaaccaaattgcactgaagtttttgaaatacctttgtagttactcaagcagttactccctacactgatgcaaggattacagaaactgatgccaaggggctgagtgagttcaactacatgttctgggggcccggagatagatgactttgcagatggaaagaggtgaaaatgaagaaggaagctgtgttgaaacagaaaaataagtcaaaaggaacaaaaattacaaagaaccatgcaggaaggaaaactatgtattaatttagaatggttgagttacattaaaataaaccaaatatgttaaagtttaagtgtgcagccatagtttgggtatttttggtttatatgccctcaagtaaaagaaaagccgaaagggttaatcatatttgaaaaccatattttattgtattttgatgagatattaaattctcaaagttttattataaattctactaagttattttatgacatgaaaagttatttatgctataaattttttgaaacacaatacctacaataaactggtatgaataattgcatcatttcaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:1647 -> Molecular function: GO:0001047 [core promoter binding] evidence: IEA
GeneID:1647 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:1647 -> Biological process: GO:0000079 [regulation of cyclin-dependent protein serine/threonine kinase activity] evidence: TAS
GeneID:1647 -> Biological process: GO:0006281 [DNA repair] evidence: TAS
GeneID:1647 -> Biological process: GO:0006469 [negative regulation of protein kinase activity] evidence: IEA
GeneID:1647 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:1647 -> Biological process: GO:0007050 [cell cycle arrest] evidence: IEA
GeneID:1647 -> Biological process: GO:0007098 [centrosome cycle] evidence: IEA
GeneID:1647 -> Biological process: GO:0042770 [signal transduction in response to DNA damage] evidence: IMP
GeneID:1647 -> Biological process: GO:0071260 [cellular response to mechanical stimulus] evidence: IEP
GeneID:1647 -> Biological process: GO:0071479 [cellular response to ionizing radiation] evidence: IMP
GeneID:1647 -> Biological process: GO:2000379 [positive regulation of reactive oxygen species metabolic process] evidence: IMP
GeneID:1647 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
by
@meso_cacase at
DBCLS
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