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
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