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2024-04-20 15:45:12, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001197297 4745 bp mRNA linear PRI 24-JUN-2013
DEFINITION Homo sapiens GA binding protein transcription factor, alpha subunit
60kDa (GABPA), transcript variant 2, mRNA.
ACCESSION NM_001197297
VERSION NM_001197297.1 GI:308818208
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 4745)
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 4745)
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 4745)
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 4745)
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 4745)
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 4745)
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 4745)
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 4745)
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 4745)
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 4745)
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
BX647755.1, AP000226.2 and BU683067.1.
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 differs in the 5' UTR compared to
variant 1. Variants 1 and 2 both encode the same protein.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
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 :: BX647755.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025083 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-3388 BX647755.1 379-3766
3389-4672 AP000226.2 68979-70262
4673-4745 BU683067.1 16-88 c
FEATURES Location/Qualifiers
source 1..4745
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="21"
/map="21q21.3"
gene 1..4745
/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="MIM:600609"
exon 1..124
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/inference="alignment:Splign:1.39.8"
variation 20
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:369659239"
exon 125..227
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/inference="alignment:Splign:1.39.8"
misc_feature 136..138
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/note="upstream in-frame stop codon"
variation 145
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="g"
/db_xref="dbSNP:201162106"
CDS 151..1515
/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_001184226.1"
/db_xref="GI:308818209"
/db_xref="CCDS:CCDS13575.1"
/db_xref="GeneID:2551"
/db_xref="HGNC:4071"
/db_xref="MIM:600609"
/translation="
MTKREAEELIEIEIDGTEKAECTEESIVEQTYAPAECVSQAIDINEPIGNLKKLLEPRLQCSLDAHEICLQDIQLDPERSLFDQGVKTDGTVQLSVQVISYQGIEPKLNILEIVKPADTVEVVIDPDAHHAESEAHLVEEAQVITLDGTKHITTISDETSEQVTRWAAALEGYRKEQERLGIPYDPIQWSTDQVLHWVVWVMKEFSMTDIDLTTLNISGRELCSLNQEDFFQRVPRGEILWSHLELLRKYVLASQEQQMNEIVTIDQPVQIIPASVQSATPTTIKVINSSAKAAKVQRAPRISGEDRSSPGNRTGNNGQIQLWQFLLELLTDKDARDCISWVGDEGEFKLNQPELVAQKWGQRKNKPTMNYEKLSRALRYYYDGDMICKVQGKRFVYKFVCDLKTLIGYSAAELNRLVTECEQKKLAKMQLHGIAQPVTAVALATASLQTEKDN
"
misc_feature 253..513
/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 652..912
/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 1105..1356
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/note="Ets-domain; Region: Ets; pfam00178"
/db_xref="CDD:143944"
exon 228..372
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/inference="alignment:Splign:1.39.8"
variation 243
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:143783879"
variation 248
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:200493501"
variation 249
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:61734758"
variation 297
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:201420702"
variation 361
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:111555508"
exon 373..457
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/inference="alignment:Splign:1.39.8"
variation 402
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:182635910"
variation 414
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:9981487"
variation 452
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="t"
/db_xref="dbSNP:142853007"
exon 458..703
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/inference="alignment:Splign:1.39.8"
variation 458
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:199641457"
variation 658
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:201578633"
variation 685
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:201624532"
variation 687
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:114798549"
exon 704..898
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/inference="alignment:Splign:1.39.8"
variation 774
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:111301212"
variation 775
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:151066489"
variation 776
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="c"
/db_xref="dbSNP:140912056"
variation 779
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:200365343"
variation 794
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:112195834"
variation 856
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:144668707"
variation 865
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="t"
/db_xref="dbSNP:147848277"
exon 899..952
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/inference="alignment:Splign:1.39.8"
variation 903
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:201347218"
variation 927
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:141466398"
variation 940
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:370739443"
variation 951
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:373747685"
exon 953..1093
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/inference="alignment:Splign:1.39.8"
variation 1009
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:376096956"
variation 1022
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:2829897"
variation 1040
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:200165925"
variation 1047
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:147015240"
exon 1094..1286
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/inference="alignment:Splign:1.39.8"
variation 1116
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:138014763"
variation 1119
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:2829898"
variation 1128
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="g"
/replace="t"
/db_xref="dbSNP:78950085"
variation 1156
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="c"
/db_xref="dbSNP:115851866"
variation 1164
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:2829899"
variation 1183
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:2829900"
variation 1224
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:2829901"
variation 1236
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:149087448"
variation 1239
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="g"
/replace="t"
/db_xref="dbSNP:376559681"
variation 1254
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:143054530"
exon 1287..4743
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/inference="alignment:Splign:1.39.8"
variation 1302
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:372224151"
variation 1329
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:61734759"
STS 1339..1886
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/standard_name="GABPA_8360"
/db_xref="UniSTS:468432"
variation 1350
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:371993253"
variation 1407
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="c"
/db_xref="dbSNP:141519478"
variation 1425
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:61750211"
variation 1480
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="g"
/replace="t"
/db_xref="dbSNP:17853379"
variation 1499
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:144078894"
STS 1512..1757
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/standard_name="SHGC-52145"
/db_xref="UniSTS:79570"
variation 1512
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:374974940"
STS 1515..1753
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/standard_name="RH18000"
/db_xref="UniSTS:13351"
variation 1519
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="c"
/db_xref="dbSNP:202051040"
variation 1529
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:368818775"
variation 1591
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:45602531"
STS 1609..1933
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/standard_name="D21S1963"
/db_xref="UniSTS:81900"
variation 1613
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="t"
/db_xref="dbSNP:376856537"
variation 1683
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="g"
/replace="t"
/db_xref="dbSNP:369063682"
variation 1710
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:2694"
variation 1729
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="t"
/db_xref="dbSNP:371743228"
variation 1781
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:55846831"
variation 1848
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="t"
/db_xref="dbSNP:1062461"
variation 1947..1948
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace=""
/replace="g"
/db_xref="dbSNP:34459326"
variation 2074
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="t"
/db_xref="dbSNP:188275683"
STS 2086..2208
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/standard_name="RH69339"
/db_xref="UniSTS:91245"
variation 2186
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="c"
/db_xref="dbSNP:139934166"
variation 2379
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:191917080"
variation 2402
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:184207125"
variation 2419
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="c"
/db_xref="dbSNP:370006698"
variation 2591
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:143469868"
variation 2605
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:151233050"
variation 2654
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="g"
/replace="t"
/db_xref="dbSNP:61156591"
variation 2742
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:188492582"
variation 2752
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:182061978"
variation 2780..2781
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace=""
/replace="tc"
/db_xref="dbSNP:200795121"
variation 2809
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:185031969"
variation 2820
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="c"
/db_xref="dbSNP:112093941"
variation 2886
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:375897808"
variation 2902
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="g"
/db_xref="dbSNP:115790549"
variation 2981
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:373887995"
variation 3134
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="t"
/db_xref="dbSNP:2154472"
variation 3153
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:11910323"
variation 3218
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:190765412"
variation 3251
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:11910413"
variation 3254
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:71651662"
variation 3421
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="g"
/db_xref="dbSNP:71651663"
variation 3520
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:11910425"
variation 3540..3543
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace=""
/replace="tgtg"
/db_xref="dbSNP:142668569"
variation 3627
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace=""
/replace="t"
/db_xref="dbSNP:35429903"
variation 3635
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="t"
/db_xref="dbSNP:189760448"
variation 3662
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace=""
/replace="t"
/db_xref="dbSNP:148811101"
variation 3727
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace=""
/replace="t"
/db_xref="dbSNP:201353954"
variation 3758
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:180691813"
variation 3793
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="g"
/db_xref="dbSNP:141668617"
variation 3807
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:71651665"
variation 3843
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="g"
/replace="t"
/db_xref="dbSNP:147069073"
variation 3881
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:370384324"
variation 3912
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:138464454"
variation 3921
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:117179423"
variation 3924..3928
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace=""
/replace="ctttg"
/db_xref="dbSNP:199776826"
variation 3974
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:191051389"
variation 4118
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:183804750"
variation 4199
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="t"
/db_xref="dbSNP:112288038"
variation 4280
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:376957538"
variation 4287
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:71651668"
variation 4463..4464
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace=""
/replace="a"
/db_xref="dbSNP:35609693"
variation 4511
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="a"
/replace="g"
/db_xref="dbSNP:188295759"
variation 4513
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:368427310"
variation 4540..4541
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace=""
/replace="a"
/db_xref="dbSNP:34074450"
variation 4577
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:375530790"
variation 4592
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="t"
/db_xref="dbSNP:192499722"
variation 4604..4605
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace=""
/replace="c"
/db_xref="dbSNP:34230234"
variation 4655..4656
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace=""
/replace="c"
/db_xref="dbSNP:36008029"
variation 4680
/gene="GABPA"
/gene_synonym="E4TF1-60; E4TF1A; NFT2; NRF2; NRF2A;
RCH04A07"
/replace="c"
/replace="g"
/db_xref="dbSNP:71651669"
ORIGIN
gcaatgcattatgggccgccgtttcagtcggtcgacgctcaccggacaggaagcgtctcggagacagtctgcgaccggacgggtctaggtgagacagaagccaaacaggaggaggaagtggagggactgatcctttgaaatactccagccatgactaaaagagaagcagaggagctgatagaaattgagattgatggaacagagaaagcagagtgcacagaagaaagcattgtagaacaaacctacgcgccagctgaatgtgtaagccaggccatagacatcaatgaaccaataggcaatttaaagaaactgctagaaccaagactacagtgttctttggatgctcatgaaatttgtctgcaagatatccagctggatccagaacgaagtttatttgaccaaggagtaaaaacagatggaactgtacagcttagtgtacaggtaatttcttaccaaggaattgaaccaaagttaaacatccttgaaattgttaaacctgcggacactgttgaggttgttattgatccagatgcccaccatgctgaatcagaagcacatcttgttgaagaagctcaagtgataactcttgatggcacaaaacacatcacaaccatttcagatgaaacttcagaacaagtgacaagatgggctgctgcactggaaggctataggaaagaacaagaacgccttgggataccctatgatcccatacagtggtccacagaccaagtcctgcattgggtggtttgggtaatgaaggaattcagcatgaccgatatagacctcaccacactcaacatttcggggagagaattatgtagtctcaaccaagaagatttttttcagcgggttcctcggggagaaattctctggagtcatctggaacttctccgaaaatatgtattggcaagtcaagaacaacagatgaatgaaatagttacaattgatcaacctgtgcaaattattccagcatcagtgcaatctgctacacctactaccattaaagttataaatagtagtgcgaaagcagccaaagtacaaagagcgccgaggatttcaggagaagatagaagctcacctgggaacagaacaggaaacaatggccaaatccaactatggcagtttttgctagaacttcttactgataaggacgctcgagactgcatttcttgggttggtgatgaaggtgaatttaagctaaatcagcctgaactggttgcacagaaatggggacagcgtaaaaataagcctacgatgaactatgagaaactcagtcgtgcattaagatattattacgatggggacatgatttgtaaagttcaaggcaagagatttgtgtacaagtttgtctgtgacttgaagactcttattggatacagtgcagcggagttgaaccgtttggtcacagaatgtgaacagaagaaacttgcaaagatgcagctccatggaattgcccagccagtcacagcagtagctctggctactgcttctctgcaaacggaaaaggataattgagccccaggacattctgagactccaaagtctttcttaaaatgtttagagcaagtatagctcttacctttattactgaatttgaatcttcttttatttctaggctgtacagtctgatgcatgatttttttataaatatttcatactcttgtgaatttggatctttttactttgagcatatattttagaatatgtgtatgttaaaggatctccacaatgtctgcagtgtgaaggcaggttcattgtggaatagtttaacagtcaggaaggctaaactggtcagtattaatgtgtagccctaccaaaaatagccagtagtatctgaaaatgaaaaataaatgaagtatctctaggaaacagtctggcttaactatttttgaaaatataactgtttcccctctctgctgctttagatgttgctttacatagaaccagaaaatggaatttctcagctaaagcatgtgtgcctgtttcatctaatcaagcagagctaaaatgttcataccgaataaatttatattaataaattactaaactaagagtatcaggttatttatatatttgcaagcaaaggacagtaagaagttgactggcaaaagagcagtgctgaaggaggagatccaggtttaaatctggcttattaactcaagccaattttaaggattttctgtatagattactcatgtcagaccaagaatttaaattattttgagagaggcatttaattctaataaaccagctgttataaaaattataaaatgatctctgtttttcctgtcagagatttaaaaaactgaaaaggtatacctcaacccaaaaataaaggtttgttttggtttgttatggcttccttttttaaaaaattaccctgtagtgccagtttattatgcaaagcagcttatattcctttgtttctgataaaatgaagactttaaatcagtcagtagtactttacctttcaaggcattagtaaattacttgcaaatagttttaaaaggaaaatacgacctttgttataggcagtcttctctttaagacaatacttttccacttgttttccttttccatattatatatgtgtattcatatagctgtatacatattcagttgatcattttataaacatatgaaggcataaagatatacagaagaaaaattattaaacaactcattttaagattcaaattaactaattcctgcatatatgacattccttacataagcgaacactaaacaaaaatggctagaaatgtctttttctttcttttctctctttgttgtttaaggtattaagcacgaattattacatgagactggcagatagctattaatcctcttacagatttgagaaagttgattctcaaatatttatgcaccttctccttcattgttttctttaaatctgtcctcttaaaaagcttcttaagagctcagttaatgcttttgacttaactaggagaaaaaggcatgataatacaggcaagatggcattgttagcaattctggtagtggtttggaatgaatcctaagaggcagggatcttaaggacaaggaagagaagagagagagggagggatctttgatctctttctctggtaatcttaatgcataattttactaaaacatgttctcaattcattcatattattaagctcttcctgcagttgatatctgagcagagtaagatttgtatttccatttttacttttttgaaagagaatatatggacagattattagtacaatttgggcactgtggttttaagaatatctgagtaaaataacaatatgaaataataaacagaagctctaacgtcaggtaacaaatagacagcaagaaaggttttgcaccatcctcttacggcctagagagttgacaagttgcttgtagttttaaaaaaataataaagtatacccttctggtatatcatcaagagcttaagaatcttggctttcatatttaaaatgcttttggggagacatatattaaaattttagccaagatgatagacatgtctcaattatatatgtgtgtgtatgtttttaaagctaaaaacattacttttagatccctagaatgaaaatttttttctcatctatgcaattcccatatggtttttttttaaatcatattttattcattttctccctttagcaattttcattttatttctcataatttgaacagagacagttctcatacatgatcagatgctttttttttcttcttaccatcatttatgcatgacataggtaatgtgactaatttctccagttgattcaagaaactcattactttgcctcaaattatatgtaaaatatttgttttacttaggttacagttatcagaaaggtagtttttttcttctattaaaatataacattgtgaaagaaaataaaatttatgctattctttgctttgtttttataaatgaatttttcatagaatttacagtatattcaaaggaagaaagataaaattattggtcatcatttgtaccttagaagtacaagaatttaagtaaaagaaatgttcatttttgttttaaaatttgttttccatgtgaagtttttattgagccaactttcatacatatcttgctagcctaaagtctaaatatttgtgttggcatcagaaaaacaaatgaggcagaattgctatgtgtggttgatcttcagataaattgactgatcacagttatttttgtatcagtctatgttattaggaaaaattgtttagttgttttctcccctgattaatggtgatattcaagtatgatacaaaaagaattgtaccaccaaatatttttgtgaggtctgctgttttccatattcattttatgctactgcctttaagaaagaactagtgtatccttgaaatagcacaaaaatgttttaaaattcataattgcaaaacaaatctgtgactaacttaatgtcttcagatctaaagggtgtaaaaatattgatacttcaatatttcacttgctgccaggaaaaacaaaattctcaatcttttgtaaatgggaggaggacttttgcatacatttttactctttaaataacgacaacgacacttatactgtcataataacaattatgtatttctttgtggttttaattttttttgtaattttacataaaacagttattttctatttttacgcagataaatatttgtgcataaaatgtaaaaatagtaaaatgagaaaaataaaactattatacagtaaa
//
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
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