2024-04-24 16:45:46, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001007277 2167 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens etoposide induced 2.4 (EI24), transcript variant 2, mRNA. ACCESSION NM_001007277 VERSION NM_001007277.1 GI:55956767 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 2167) AUTHORS Mazumder Indra,D., Mitra,S., Singh,R.K., Dutta,S., Roy,A., Mondal,R.K., Basu,P.S., Roychoudhury,S. and Panda,C.K. TITLE Inactivation of CHEK1 and EI24 is associated with the development of invasive cervical carcinoma: clinical and prognostic implications JOURNAL Int. J. Cancer 129 (8), 1859-1871 (2011) PUBMED 21154811 REMARK GeneRIF: our data suggest that inactivation of EI24 and CHEK1 through two independent mechanisms contributes to the development of CACX. REFERENCE 2 (bases 1 to 2167) AUTHORS Sinha,S., Singh,R.K., Bhattacharya,N., Mukherjee,N., Ghosh,S., Alam,N., Roy,A., Roychoudhury,S. and Panda,C.K. TITLE Frequent alterations of LOH11CR2A, PIG8 and CHEK1 genes at chromosomal 11q24.1-24.2 region in breast carcinoma: clinical and prognostic implications JOURNAL Mol Oncol 5 (5), 454-464 (2011) PUBMED 21803008 REMARK GeneRIF: LOH11CR2A, PIG8 and CHEK1 are candidate tumor suppressor genes associated with breast carcinoma and have significant clinical as well as prognostic importance. REFERENCE 3 (bases 1 to 2167) AUTHORS Mork,C.N., Faller,D.V. and Spanjaard,R.A. TITLE Loss of putative tumor suppressor EI24/PIG8 confers resistance to etoposide JOURNAL FEBS Lett. 581 (28), 5440-5444 (2007) PUBMED 17981155 REMARK GeneRIF: identify the EI24/PIG8 status as a potentially new prognostic marker of chemotherapy responsiveness REFERENCE 4 (bases 1 to 2167) AUTHORS Gentile,M., Ahnstrom,M., Schon,F. and Wingren,S. TITLE Candidate tumour suppressor genes at 11q23-q24 in breast cancer: evidence of alterations in PIG8, a gene involved in p53-induced apoptosis JOURNAL Oncogene 20 (53), 7753-7760 (2001) PUBMED 11753653 REFERENCE 5 (bases 1 to 2167) AUTHORS Burns,T.F., Bernhard,E.J. and El-Deiry,W.S. TITLE Tissue specific expression of p53 target genes suggests a key role for KILLER/DR5 in p53-dependent apoptosis in vivo JOURNAL Oncogene 20 (34), 4601-4612 (2001) PUBMED 11498783 REFERENCE 6 (bases 1 to 2167) AUTHORS Gu,Z., Flemington,C., Chittenden,T. and Zambetti,G.P. TITLE ei24, a p53 response gene involved in growth suppression and apoptosis JOURNAL Mol. Cell. Biol. 20 (1), 233-241 (2000) PUBMED 10594026 REFERENCE 7 (bases 1 to 2167) AUTHORS Gu,Z., Gilbert,D.J., Valentine,V.A., Jenkins,N.A., Copeland,N.G. and Zambetti,G.P. TITLE The p53-inducible gene EI24/PIG8 localizes to human chromosome 11q23 and the proximal region of mouse chromosome 9 JOURNAL Cytogenet. Cell Genet. 89 (3-4), 230-233 (2000) PUBMED 10965130 REFERENCE 8 (bases 1 to 2167) AUTHORS Polyak,K., Xia,Y., Zweier,J.L., Kinzler,K.W. and Vogelstein,B. TITLE A model for p53-induced apoptosis JOURNAL Nature 389 (6648), 300-305 (1997) PUBMED 9305847 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BM450796.1, AP001494.4, BC002390.2, BM467354.1 and BQ936285.1. Summary: This gene has higher expression in p53-expressing cells than in control cells and is an immediate-early induction target of p53-mediated apoptosis. The protein encoded by this gene contains six putative transmembrane domains and may suppress cell growth by inducing apoptotic cell death through the caspase 9 and mitochondrial pathways. This gene is located on human chromosome 11q24, a region frequently altered in cancers. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (2) lacks one of the coding exons compared to transcript variant 1, which results in a frameshift and early transcription termination. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: BM551909.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-6 BM450796.1 1-6 7-126 AP001494.4 26770-26889 127-915 BC002390.2 8-796 916-1732 BC002390.2 909-1725 1733-1948 BM467354.1 156-371 1949-2167 BQ936285.1 212-430 FEATURES Location/Qualifiers source 1..2167 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="11" /map="11q24" gene 1..2167 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /note="etoposide induced 2.4" /db_xref="GeneID:9538" /db_xref="HGNC:13276" /db_xref="MIM:605170" exon 1..172 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /inference="alignment:Splign:1.39.8" variation 95 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:368693305" variation 126 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:3017281" exon 173..284 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /inference="alignment:Splign:1.39.8" variation 192 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:376955676" variation 210 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="g" /db_xref="dbSNP:369395580" misc_feature 225..227 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /note="upstream in-frame stop codon" variation 242 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="g" /db_xref="dbSNP:190131090" CDS 243..1031 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /note="isoform 2 is encoded by transcript variant 2; tumor protein p53 inducible protein 8; ectopic P-granules autophagy protein 4 homolog; etoposide-induced protein 2.4 homolog; etoposide induced 2.4 mRNA; p53-induced gene 8 protein" /codon_start=1 /product="etoposide-induced protein 2.4 homolog isoform 2" /protein_id="NP_001007278.1" /db_xref="GI:55956768" /db_xref="GeneID:9538" /db_xref="HGNC:13276" /db_xref="MIM:605170" /translation="
MADSVKTFLQDLARGIKDSIWGICTISKLDARIQQKREEQRRRRASSVLAQRRAQSIERKQESEPRIVSRIFQCCAWNGGVFWFSLLLFYRVFIPVLQSVTARIIGDPSLHGDVWSWLEFFLTSIFSALWVLPLFVLSKVVNAIWFQDIADLAFEVSGRKPHPFPSVSKIIADMLFNLLLQALFLIQGMFVSLFPIHLVGQLVSLLHMSLLYSLYCFEYRWFNKVAAFSLSSFLYSLSAPMKQRPLAKHISSSCASSPWWSS
" misc_feature 408..410 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (O14681.4); phosphorylation site" misc_feature 408..410 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 435..908 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /note="Etoposide-induced protein 2.4 (EI24); Region: EI24; pfam07264" /db_xref="CDD:203606" misc_feature 471..533 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O14681.4); transmembrane region" misc_feature 591..653 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O14681.4); transmembrane region" misc_feature 777..839 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O14681.4); transmembrane region" variation 271 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="g" /db_xref="dbSNP:377285559" variation 273 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="g" /replace="t" /db_xref="dbSNP:371166633" exon 285..430 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /inference="alignment:Splign:1.39.8" variation 343 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="g" /db_xref="dbSNP:11538202" variation 363 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:143089007" variation 390 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="g" /db_xref="dbSNP:373668336" variation 402 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="g" /db_xref="dbSNP:1043914" variation 417 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:187402952" exon 431..491 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /inference="alignment:Splign:1.39.8" variation 438 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:368526220" exon 492..558 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /inference="alignment:Splign:1.39.8" variation 539 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="g" /db_xref="dbSNP:372011817" variation 557 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:375565019" exon 559..683 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /inference="alignment:Splign:1.39.8" variation 569 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="t" /db_xref="dbSNP:374580824" variation 590 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="g" /db_xref="dbSNP:140296039" variation 598 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="g" /db_xref="dbSNP:1043918" variation 627 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="g" /db_xref="dbSNP:1043919" exon 684..803 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /inference="alignment:Splign:1.39.8" variation 710 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="t" /db_xref="dbSNP:372628822" variation 728 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:373755758" variation 741 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="g" /db_xref="dbSNP:199956275" variation 767 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:371367478" exon 804..915 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /inference="alignment:Splign:1.39.8" STS 825..985 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /standard_name="RH64693" /db_xref="UniSTS:82304" variation 839 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:117877629" variation 840 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="g" /db_xref="dbSNP:373773329" variation 899 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:376206953" exon 916..990 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /inference="alignment:Splign:1.39.8" variation 958 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:201075869" variation 974..975 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="" /replace="c" /db_xref="dbSNP:55912941" variation 988 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="g" /db_xref="dbSNP:4627097" exon 991..2150 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /inference="alignment:Splign:1.39.8" variation 994 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:77420108" variation 1004 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:371275461" STS 1045..1134 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /standard_name="D11S2234E" /db_xref="UniSTS:78001" variation 1068 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:373537623" variation 1069 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="g" /db_xref="dbSNP:201184433" variation 1085 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="g" /db_xref="dbSNP:375652371" variation 1092 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:368640507" variation 1111 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="g" /db_xref="dbSNP:377515763" variation 1116 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:371870792" variation 1117 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="g" /db_xref="dbSNP:201282432" variation 1120 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="g" /db_xref="dbSNP:368076474" variation 1137 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:371540566" variation 1196 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:375171251" variation 1202..1203 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="" /replace="g" /db_xref="dbSNP:370012892" variation 1316 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="g" /db_xref="dbSNP:375102205" variation 1362 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="c" /db_xref="dbSNP:12417397" variation 1365 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="g" /db_xref="dbSNP:188509727" variation 1392 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:12420149" variation 1405 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:12420150" STS 1423..1522 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /standard_name="2002" /db_xref="UniSTS:22085" variation 1449 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="g" /replace="t" /db_xref="dbSNP:11538203" variation 1465 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:7094" variation 1496 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:12420174" variation 1527 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="t" /db_xref="dbSNP:374416673" variation 1571 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="t" /db_xref="dbSNP:139180334" variation 1605 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="g" /db_xref="dbSNP:191258397" variation 1649 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="c" /replace="g" /db_xref="dbSNP:149952907" variation 1695 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="c" /db_xref="dbSNP:1044048" variation 1728..1732 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="" /replace="ttt" /replace="ttttt" /db_xref="dbSNP:71045108" variation 1732 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="" /replace="aaaa" /replace="aaaaaaaaa" /db_xref="dbSNP:56843571" variation 1949 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="g" /db_xref="dbSNP:139643050" STS 1965..2106 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /standard_name="STS-T46944" /db_xref="UniSTS:15560" variation 2020 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" /replace="a" /replace="t" /db_xref="dbSNP:1062795" polyA_signal 2128..2133 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" polyA_site 2152 /gene="EI24" /gene_synonym="EPG4; PIG8; TP53I8" ORIGIN
ccccgcctcgtggtgccggctggttcttcgcgctcgcccgacttcccagcggccccgtgcggcccgggcatgcccagtgcgggcgcagcggccccggccctggaagcgccccggcggagctggcctgcggtgggctaggggcagggccggagccgcggcggcggagctgtggatccttcatgatgagagatttggggacacttctctctcctgtgtgtagttgatagtttggtggtgaagagatggctgacagtgtcaaaacctttctccaggaccttgccagaggaatcaaagactccatctggggtatttgtaccatctcaaagctagatgctcgaatccagcaaaagagagaggagcagcgtcgaagaagggcaagtagtgtcttggcacagagaagagcccagagtatagagcggaagcaagagagtgagccacgtattgttagtagaattttccagtgttgtgcttggaatggtggagtgttctggttcagtctcctcttgttttatcgagtatttattcctgtgcttcagtcggtaacagcccgaattatcggtgacccatcactacatggagatgtttggtcgtggctggaattcttcctcacgtcaattttcagtgctctttgggtgctccccttgtttgtgcttagcaaagtggtgaatgccatttggtttcaggatatagctgacctggcatttgaggtatcagggaggaagcctcacccattccctagtgtcagcaaaataattgctgacatgctcttcaaccttttgctgcaggctcttttcctcattcagggaatgtttgtgagtctctttcccatccatcttgtcggtcagctggttagtctcctgcatatgtcccttctctactcactgtactgctttgaatatcgttggttcaataaagtggctgccttttctctatcctctttcctttattcattatcagcgccaatgaagcaaagacccctggcaaagcatatctcttccagttgcgcctcttctccttggtggtcttcttaagcaacagactcttccacaagacagtctacctgcagtcggccctgagcagctctacttctgcagagaagttcccttcaccgcatccgtcgcctgccaaactgaaggctactgcaggtcactgagttgcctgccatccaaaggggatgggcgggattggaagaagctgtggcagctcttttccctgttcacctcccgcctgccagggaaggcaggacccgctctgccaagggccctctgcgtattcccttctctctgaggaattgaaatttttgtctctggtgcacgtaaggcagaatgttccctgacaccagtgtgtggatttttaacatcaccgtgagtctgaaaggaccacaggtttttctgcagctattttctagcatttgccagtccctgtgcctggactgattggaacactttgtttttctccctgtgccatttacccttccacctttccatcctgccttctaccacccttggatgaatggattttgtaattctagctgttgtattttgtgaatttgttaattttgttgtttttctgtgaaacacatacattggatatgggaggtaaaggagtgtcccagttgctcctggtcactccctttatagccattactgtcttgtttcttgtaactcaggttaggttttggtctctcttgctccactgcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaagcctgaagagatgagataggaggaaagacctcacagccagatctgctgggttttgaggagtgattttctttcttccccttgaaggggaaaaagctattttcattggtacatttaaagtcccccaactatggggaggtaccaattctggacaagtgccactacaacaacactaaacctgaacttttcaactccgttggtggtgggaggcagcgggcagaaatttactgttggccactgccaggtctatttcatatttcaaaggaatattgggtgctgcatataggaactgaaggggtcaatgtattaaacctgtgattggttgttttcctgtcattttgagagactaaatgtggggggcagatgtcaaaatacctgtacaattttaaaatgtcacaattaaacatgagctggtttcccaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:9538 -> Biological process: GO:0006914 [autophagy] evidence: IEA GeneID:9538 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:9538 -> Biological process: GO:0006917 [induction of apoptosis] evidence: IEA GeneID:9538 -> Biological process: GO:0030308 [negative regulation of cell growth] evidence: IDA GeneID:9538 -> Biological process: GO:0042493 [response to drug] evidence: IEA GeneID:9538 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: IEA GeneID:9538 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA GeneID:9538 -> Cellular component: GO:0031965 [nuclear membrane] evidence: IEA
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