2025-05-09 16:24:32, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_002040 5182 bp mRNA linear PRI 24-JUN-2013 DEFINITION Homo sapiens GA binding protein transcription factor, alpha subunit 60kDa (GABPA), transcript variant 1, mRNA. ACCESSION NM_002040 VERSION NM_002040.3 GI:163644305 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 5182) AUTHORS Khan,A.O., Alrashed,M. and Alkuraya,F.S. TITLE Clinical characterisation of the CABP4-related retinal phenotype JOURNAL Br J Ophthalmol 97 (3), 262-265 (2013) PUBMED 23099293 REMARK GeneRIF: The phenotype is best uniformly termed congenital cone-rod synaptic disorder. In Saudi Arabia a founder homozygous c.81_82insA CABP4 mutation is a recurrent cause. REFERENCE 2 (bases 1 to 5182) AUTHORS Odrowaz,Z. and Sharrocks,A.D. TITLE The ETS transcription factors ELK1 and GABPA regulate different gene networks to control MCF10A breast epithelial cell migration JOURNAL PLoS ONE 7 (12), E49892 (2012) PUBMED 23284628 REMARK GeneRIF: although ELK1 and GABPA ultimately control the same biological process, they do so by regulating different cohorts of target genes associated with cytoskeletal functions and cell migration contro REFERENCE 3 (bases 1 to 5182) AUTHORS Weng,C.J., Chen,M.J., Yeh,C.T. and Yen,G.C. TITLE Hepatoprotection of quercetin against oxidative stress by induction of metallothionein expression through activating MAPK and PI3K pathways and enhancing Nrf2 DNA-binding activity JOURNAL N Biotechnol 28 (6), 767-777 (2011) PUBMED 21624509 REMARK GeneRIF: Hepatoprotection of quercetin against oxidative stress by induction of metallothionein expression through activating MAPK and PI3K pathways and enhancing Nrf2 DNA-binding activity. REFERENCE 4 (bases 1 to 5182) AUTHORS Zhang,Y.Q., Li,K.N., Cui,J.H., Liu,Y.F. and Yang,S.J. TITLE Abnormal expression of NRF-2alpha in hepatocellular carcinoma identified with a newly prepared monoclonal antibody against human NRF-2alpha protein JOURNAL Mol. Biol. Rep. 38 (5), 3083-3088 (2011) PUBMED 20127517 REMARK GeneRIF: expression of NRF-2alpha in hepatocellular carcinoma (HCC) and tumor-adjacent specimens; higher-grade frequency of expression of NRF-2alpha in tumor-adjacent tissues was higher than tumor tissues, suggesting NRF-2alpha may play important role in carcinogenesis of HCC REFERENCE 5 (bases 1 to 5182) AUTHORS Masuko,H., Sakamoto,T., Kaneko,Y., Iijima,H., Naito,T., Noguchi,E., Hirota,T., Tamari,M. and Hizawa,N. TITLE An interaction between Nrf2 polymorphisms and smoking status affects annual decline in FEV1: a longitudinal retrospective cohort study JOURNAL BMC Med. Genet. 12, 97 (2011) PUBMED 21774808 REMARK GeneRIF: an Nrf2-dependent response to exogenous stimuli may affect annual FEV1 decline Publication Status: Online-Only REFERENCE 6 (bases 1 to 5182) AUTHORS Goto,M., Shimizu,T., Sawada,J., Sawa,C., Watanabe,H., Ichikawa,H., Ohira,M., Ohki,M. and Handa,H. TITLE Assignment of the E4TF1-60 gene to human chromosome 21q21.2-q21.3 JOURNAL Gene 166 (2), 337-338 (1995) PUBMED 8543189 REFERENCE 7 (bases 1 to 5182) AUTHORS Chrast,R., Chen,H., Morris,M.A. and Antonarakis,S.E. TITLE Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21 JOURNAL Genomics 28 (1), 119-122 (1995) PUBMED 7590737 REFERENCE 8 (bases 1 to 5182) AUTHORS Gugneja,S., Virbasius,J.V. and Scarpulla,R.C. TITLE Four structurally distinct, non-DNA-binding subunits of human nuclear respiratory factor 2 share a conserved transcriptional activation domain JOURNAL Mol. Cell. Biol. 15 (1), 102-111 (1995) PUBMED 7799916 REFERENCE 9 (bases 1 to 5182) AUTHORS Sawada,J., Goto,M., Watanabe,H., Handa,H. and Yoshida,M.C. TITLE Regional mapping of two subunits of transcription factor E4TF1 to human chromosome JOURNAL Jpn. J. Cancer Res. 86 (1), 10-12 (1995) PUBMED 7737900 REFERENCE 10 (bases 1 to 5182) AUTHORS Watanabe,H., Sawada,J., Yano,K., Yamaguchi,K., Goto,M. and Handa,H. TITLE cDNA cloning of transcription factor E4TF1 subunits with Ets and notch motifs JOURNAL Mol. Cell. Biol. 13 (3), 1385-1391 (1993) PUBMED 8441384 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CD674081.1, BC035031.2, BX647755.1, CV575645.1, BG542623.1, CB132898.1, BX117934.1 and AI917898.1. On Dec 20, 2007 this sequence version replaced gi:34452720. Summary: This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2010]. Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein. 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 :: BC035031.2, AK223164.1 [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 1-370 CD674081.1 72-441 c 371-1916 BC035031.2 4-1549 1917-3825 BX647755.1 1858-3766 3826-4071 CV575645.1 4-249 4072-4112 BG542623.1 149-189 4113-4625 CB132898.1 28-540 4626-5048 BX117934.1 52-474 5049-5182 AI917898.1 1-134 c FEATURES Location/Qualifiers source 1..5182 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="21" /map="21q21.3" gene 1..5182 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /note="GA binding protein transcription factor, alpha subunit 60kDa" /db_xref="GeneID:2551" /db_xref="HGNC:4071" /db_xref="HPRD:11793" /db_xref="MIM:600609" exon 1..561 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /inference="alignment:Splign:1.39.8" variation 85 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:150566464" variation 183 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="g" /db_xref="dbSNP:67850549" variation 185 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:71649641" variation 189 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:71649642" variation 221 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="t" /db_xref="dbSNP:71649643" variation 241 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:113359903" variation 262 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:144492173" variation 295 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:114422129" variation 337 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="g" /db_xref="dbSNP:147440551" variation 388 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="g" /db_xref="dbSNP:376154905" variation 413..414 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="" /replace="c" /db_xref="dbSNP:372213340" variation 440 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="c" /db_xref="dbSNP:140704996" variation 452 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:67572468" variation 468 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="c" /db_xref="dbSNP:71649644" exon 562..664 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /inference="alignment:Splign:1.39.8" misc_feature 573..575 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /note="upstream in-frame stop codon" variation 582 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="g" /db_xref="dbSNP:201162106" CDS 588..1952 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /note="human nuclear respiratory factor-2 subunit alpha; nuclear respiratory factor 2 alpha subunit; GABP subunit alpha; transcription factor E4TF1-60; nuclear respiratory factor 2 subunit alpha; GA binding protein transcription factor alpha subunit 60kDa" /codon_start=1 /product="GA-binding protein alpha chain" /protein_id="NP_002031.2" /db_xref="GI:34452721" /db_xref="CCDS:CCDS13575.1" /db_xref="GeneID:2551" /db_xref="HGNC:4071" /db_xref="HPRD:11793" /db_xref="MIM:600609" /translation="
MTKREAEELIEIEIDGTEKAECTEESIVEQTYAPAECVSQAIDINEPIGNLKKLLEPRLQCSLDAHEICLQDIQLDPERSLFDQGVKTDGTVQLSVQVISYQGIEPKLNILEIVKPADTVEVVIDPDAHHAESEAHLVEEAQVITLDGTKHITTISDETSEQVTRWAAALEGYRKEQERLGIPYDPIQWSTDQVLHWVVWVMKEFSMTDIDLTTLNISGRELCSLNQEDFFQRVPRGEILWSHLELLRKYVLASQEQQMNEIVTIDQPVQIIPASVQSATPTTIKVINSSAKAAKVQRAPRISGEDRSSPGNRTGNNGQIQLWQFLLELLTDKDARDCISWVGDEGEFKLNQPELVAQKWGQRKNKPTMNYEKLSRALRYYYDGDMICKVQGKRFVYKFVCDLKTLIGYSAAELNRLVTECEQKKLAKMQLHGIAQPVTAVALATASLQTEKDN
" misc_feature 690..950 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /note="GA-binding protein alpha chain; Region: GABP-alpha; pfam11620" /db_xref="CDD:152056" misc_feature 1089..1349 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /note="Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain; Region: SAM_PNT-GABP-alpha; cd08534" /db_xref="CDD:176084" misc_feature 1542..1793 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /note="Ets-domain; Region: Ets; pfam00178" /db_xref="CDD:143944" exon 665..809 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /inference="alignment:Splign:1.39.8" variation 680 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:143783879" variation 685 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:200493501" variation 686 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:61734758" variation 734 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:201420702" variation 798 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:111555508" exon 810..894 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /inference="alignment:Splign:1.39.8" variation 839 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:182635910" variation 851 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:9981487" variation 889 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="t" /db_xref="dbSNP:142853007" exon 895..1140 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /inference="alignment:Splign:1.39.8" variation 895 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:199641457" variation 1095 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:201578633" variation 1122 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:201624532" variation 1124 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:114798549" exon 1141..1335 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /inference="alignment:Splign:1.39.8" variation 1211 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:111301212" variation 1212 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:151066489" variation 1213 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="c" /db_xref="dbSNP:140912056" variation 1216 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:200365343" variation 1231 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:112195834" variation 1293 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:144668707" variation 1302 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="t" /db_xref="dbSNP:147848277" exon 1336..1389 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /inference="alignment:Splign:1.39.8" variation 1340 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:201347218" variation 1364 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:141466398" variation 1377 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:370739443" variation 1388 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:373747685" exon 1390..1530 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /inference="alignment:Splign:1.39.8" variation 1446 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:376096956" variation 1459 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:2829897" variation 1477 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:200165925" variation 1484 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:147015240" exon 1531..1723 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /inference="alignment:Splign:1.39.8" variation 1553 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:138014763" variation 1556 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:2829898" variation 1565 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="g" /replace="t" /db_xref="dbSNP:78950085" variation 1593 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="c" /db_xref="dbSNP:115851866" variation 1601 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:2829899" variation 1620 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:2829900" variation 1661 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:2829901" variation 1673 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:149087448" variation 1676 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="g" /replace="t" /db_xref="dbSNP:376559681" variation 1691 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:143054530" exon 1724..5180 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /inference="alignment:Splign:1.39.8" variation 1739 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:372224151" variation 1766 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:61734759" STS 1776..2323 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /standard_name="GABPA_8360" /db_xref="UniSTS:468432" variation 1787 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:371993253" variation 1844 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="c" /db_xref="dbSNP:141519478" variation 1862 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:61750211" variation 1917 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="g" /replace="t" /db_xref="dbSNP:17853379" variation 1936 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:144078894" STS 1949..2194 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /standard_name="SHGC-52145" /db_xref="UniSTS:79570" variation 1949 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:374974940" STS 1952..2190 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /standard_name="RH18000" /db_xref="UniSTS:13351" variation 1956 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="c" /db_xref="dbSNP:202051040" variation 1966 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:368818775" variation 2028 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:45602531" STS 2046..2370 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /standard_name="D21S1963" /db_xref="UniSTS:81900" variation 2050 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="t" /db_xref="dbSNP:376856537" variation 2120 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="g" /replace="t" /db_xref="dbSNP:369063682" variation 2147 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:2694" variation 2166 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="t" /db_xref="dbSNP:371743228" variation 2218 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:55846831" variation 2285 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="t" /db_xref="dbSNP:1062461" variation 2384..2385 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="" /replace="g" /db_xref="dbSNP:34459326" variation 2511 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="t" /db_xref="dbSNP:188275683" STS 2523..2645 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /standard_name="RH69339" /db_xref="UniSTS:91245" variation 2623 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="c" /db_xref="dbSNP:139934166" variation 2816 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:191917080" variation 2839 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:184207125" variation 2856 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="c" /db_xref="dbSNP:370006698" variation 3028 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:143469868" variation 3042 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:151233050" variation 3091 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="g" /replace="t" /db_xref="dbSNP:61156591" variation 3179 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:188492582" variation 3189 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:182061978" variation 3217..3218 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="" /replace="tc" /db_xref="dbSNP:200795121" variation 3246 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:185031969" variation 3257 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="c" /db_xref="dbSNP:112093941" variation 3323 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:375897808" variation 3339 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="g" /db_xref="dbSNP:115790549" variation 3418 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:373887995" variation 3571 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="t" /db_xref="dbSNP:2154472" variation 3590 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:11910323" variation 3655 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:190765412" variation 3688 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:11910413" variation 3691 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:71651662" variation 3858 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="g" /db_xref="dbSNP:71651663" variation 3957 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:11910425" variation 3977..3980 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="" /replace="tgtg" /db_xref="dbSNP:142668569" variation 4064 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="" /replace="t" /db_xref="dbSNP:35429903" variation 4072 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="t" /db_xref="dbSNP:189760448" variation 4099 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="" /replace="t" /db_xref="dbSNP:148811101" variation 4164 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="" /replace="t" /db_xref="dbSNP:201353954" variation 4195 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:180691813" variation 4230 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="g" /db_xref="dbSNP:141668617" variation 4244 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:71651665" variation 4280 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="g" /replace="t" /db_xref="dbSNP:147069073" variation 4318 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:370384324" variation 4349 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:138464454" variation 4358 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:117179423" variation 4361..4365 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="" /replace="ctttg" /db_xref="dbSNP:199776826" variation 4411 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:191051389" variation 4555 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:183804750" variation 4636 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="t" /db_xref="dbSNP:112288038" variation 4717 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:376957538" variation 4724 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:71651668" variation 4900..4901 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="" /replace="a" /db_xref="dbSNP:35609693" variation 4948 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="a" /replace="g" /db_xref="dbSNP:188295759" variation 4950 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:368427310" variation 4977..4978 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="" /replace="a" /db_xref="dbSNP:34074450" variation 5014 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:375530790" variation 5029 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="t" /db_xref="dbSNP:192499722" variation 5041..5042 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="" /replace="c" /db_xref="dbSNP:34230234" variation 5092..5093 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="" /replace="c" /db_xref="dbSNP:36008029" variation 5117 /gene="GABPA" /gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A; RCH04A07" /replace="c" /replace="g" /db_xref="dbSNP:71651669" ORIGIN
cgaccggacgggtctaggtgagacagaagccaaacaggaggaggaagtggagggtaagtgcttccgggtcccctggcacagcctccgccatcttttcttcgcctaatttgacccgttctttttcccctccttgaaaccttgctctgtacgcatgcgctctttgagtggcctttcccctagttcaagctcccctccgagtcagcgtcctgttcgttagggttatcgaagtgtataaaggtgcagggaaagtgagactgtgtaaaacaaagcggattggggcgttgtgcttccttgtacctcgtgagcctccgttgccttgggcggtcgttttgcgcaccctgccgggagttgtagtcctggacccgaaggtgcctgggaggcgggaggggggttggggcttctcagcgccgattccgcgggaagggccctgggacctcacacttctagtcgcgggagctgcaggtcttacccggagagacgctgcacgtggagccctcgccgctgccgttctcagccggctctggagtgcgggcgggggcgacagggccgattccggagtgggactgatcctttgaaatactccagccatgactaaaagagaagcagaggagctgatagaaattgagattgatggaacagagaaagcagagtgcacagaagaaagcattgtagaacaaacctacgcgccagctgaatgtgtaagccaggccatagacatcaatgaaccaataggcaatttaaagaaactgctagaaccaagactacagtgttctttggatgctcatgaaatttgtctgcaagatatccagctggatccagaacgaagtttatttgaccaaggagtaaaaacagatggaactgtacagcttagtgtacaggtaatttcttaccaaggaattgaaccaaagttaaacatccttgaaattgttaaacctgcggacactgttgaggttgttattgatccagatgcccaccatgctgaatcagaagcacatcttgttgaagaagctcaagtgataactcttgatggcacaaaacacatcacaaccatttcagatgaaacttcagaacaagtgacaagatgggctgctgcactggaaggctataggaaagaacaagaacgccttgggataccctatgatcccatacagtggtccacagaccaagtcctgcattgggtggtttgggtaatgaaggaattcagcatgaccgatatagacctcaccacactcaacatttcggggagagaattatgtagtctcaaccaagaagatttttttcagcgggttcctcggggagaaattctctggagtcatctggaacttctccgaaaatatgtattggcaagtcaagaacaacagatgaatgaaatagttacaattgatcaacctgtgcaaattattccagcatcagtgcaatctgctacacctactaccattaaagttataaatagtagtgcgaaagcagccaaagtacaaagagcgccgaggatttcaggagaagatagaagctcacctgggaacagaacaggaaacaatggccaaatccaactatggcagtttttgctagaacttcttactgataaggacgctcgagactgcatttcttgggttggtgatgaaggtgaatttaagctaaatcagcctgaactggttgcacagaaatggggacagcgtaaaaataagcctacgatgaactatgagaaactcagtcgtgcattaagatattattacgatggggacatgatttgtaaagttcaaggcaagagatttgtgtacaagtttgtctgtgacttgaagactcttattggatacagtgcagcggagttgaaccgtttggtcacagaatgtgaacagaagaaacttgcaaagatgcagctccatggaattgcccagccagtcacagcagtagctctggctactgcttctctgcaaacggaaaaggataattgagccccaggacattctgagactccaaagtctttcttaaaatgtttagagcaagtatagctcttacctttattactgaatttgaatcttcttttatttctaggctgtacagtctgatgcatgatttttttataaatatttcatactcttgtgaatttggatctttttactttgagcatatattttagaatatgtgtatgttaaaggatctccacaatgtctgcagtgtgaaggcaggttcattgtggaatagtttaacagtcaggaaggctaaactggtcagtattaatgtgtagccctaccaaaaatagccagtagtatctgaaaatgaaaaataaatgaagtatctctaggaaacagtctggcttaactatttttgaaaatataactgtttcccctctctgctgctttagatgttgctttacatagaaccagaaaatggaatttctcagctaaagcatgtgtgcctgtttcatctaatcaagcagagctaaaatgttcataccgaataaatttatattaataaattactaaactaagagtatcaggttatttatatatttgcaagcaaaggacagtaagaagttgactggcaaaagagcagtgctgaaggaggagatccaggtttaaatctggcttattaactcaagccaattttaaggattttctgtatagattactcatgtcagaccaagaatttaaattattttgagagaggcatttaattctaataaaccagctgttataaaaattataaaatgatctctgtttttcctgtcagagatttaaaaaactgaaaaggtatacctcaacccaaaaataaaggtttgttttggtttgttatggcttccttttttaaaaaattaccctgtagtgccagtttattatgcaaagcagcttatattcctttgtttctgataaaatgaagactttaaatcagtcagtagtactttacctttcaaggcattagtaaattacttgcaaatagttttaaaaggaaaatacgacctttgttataggcagtcttctctttaagacaatacttttccacttgttttccttttccatattatatatgtgtattcatatagctgtatacatattcagttgatcattttataaacatatgaaggcataaagatatacagaagaaaaattattaaacaactcattttaagattcaaattaactaattcctgcatatatgacattccttacataagcgaacactaaacaaaaatggctagaaatgtctttttctttcttttctctctttgttgtttaaggtattaagcacgaattattacatgagactggcagatagctattaatcctcttacagatttgagaaagttgattctcaaatatttatgcaccttctccttcattgttttctttaaatctgtcctcttaaaaagcttcttaagagctcagttaatgcttttgacttaactaggagaaaaaggcatgataatacaggcaagatggcattgttagcaattctggtagtggtttggaatgaatcctaagaggcagggatcttaaggacaaggaagagaagagagagagggagggatctttgatctctttctctggtaatcttaatgcataattttactaaaacatgttctcaattcattcatattattaagctcttcctgcagttgatatctgagcagagtaagatttgtatttccatttttacttttttgaaagagaatatatggacagattattagtacaatttgggcactgtggttttaagaatatctgagtaaaataacaatatgaaataataaacagaagctctaacgtcaggtaacaaatagacagcaagaaaggttttgcaccatcctcttacggcctagagagttgacaagttgcttgtagttttaaaaaaataataaagtatacccttctggtatatcatcaagagcttaagaatcttggctttcatatttaaaatgcttttggggagacatatattaaaattttagccaagatgatagacatgtctcaattatatatgtgtgtgtatgtttttaaagctaaaaacattacttttagatccctagaatgaaaatttttttctcatctatgcaattcccatatggtttttttttaaatcatattttattcattttctccctttagcaattttcattttatttctcataatttgaacagagacagttctcatacatgatcagatgctttttttttcttcttaccatcatttatgcatgacataggtaatgtgactaatttctccagttgattcaagaaactcattactttgcctcaaattatatgtaaaatatttgttttacttaggttacagttatcagaaaggtagtttttttcttctattaaaatataacattgtgaaagaaaataaaatttatgctattctttgctttgtttttataaatgaatttttcatagaatttacagtatattcaaaggaagaaagataaaattattggtcatcatttgtaccttagaagtacaagaatttaagtaaaagaaatgttcatttttgttttaaaatttgttttccatgtgaagtttttattgagccaactttcatacatatcttgctagcctaaagtctaaatatttgtgttggcatcagaaaaacaaatgaggcagaattgctatgtgtggttgatcttcagataaattgactgatcacagttatttttgtatcagtctatgttattaggaaaaattgtttagttgttttctcccctgattaatggtgatattcaagtatgatacaaaaagaattgtaccaccaaatatttttgtgaggtctgctgttttccatattcattttatgctactgcctttaagaaagaactagtgtatccttgaaatagcacaaaaatgttttaaaattcataattgcaaaacaaatctgtgactaacttaatgtcttcagatctaaagggtgtaaaaatattgatacttcaatatttcacttgctgccaggaaaaacaaaattctcaatcttttgtaaatgggaggaggacttttgcatacatttttactctttaaataacgacaacgacacttatactgtcataataacaattatgtatttctttgtggttttaattttttttgtaattttacataaaacagttattttctatttttacgcagataaatatttgtgcataaaatgtaaaaatagtaaaatgagaaaaataaaactattatacagtaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:2551 -> Molecular function: GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] evidence: IDA GeneID:2551 -> Molecular function: GO:0001228 [RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] evidence: IDA GeneID:2551 -> Molecular function: GO:0003677 [DNA binding] evidence: TAS GeneID:2551 -> Molecular function: GO:0003682 [chromatin binding] evidence: IEA GeneID:2551 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: TAS GeneID:2551 -> Molecular function: GO:0003713 [transcription coactivator activity] evidence: TAS GeneID:2551 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:2551 -> Molecular function: GO:0044212 [transcription regulatory region DNA binding] evidence: IDA GeneID:2551 -> Molecular function: GO:0046982 [protein heterodimerization activity] evidence: IDA GeneID:2551 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IEA GeneID:2551 -> Biological process: GO:0001701 [in utero embryonic development] evidence: IEA GeneID:2551 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: TAS GeneID:2551 -> Biological process: GO:0045653 [negative regulation of megakaryocyte differentiation] evidence: IEA GeneID:2551 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IDA GeneID:2551 -> Cellular component: GO:0000790 [nuclear chromatin] evidence: IDA GeneID:2551 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:2551 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.