LOCUS NP_001026865 380 aa linear PRI 14-SEP-2008
DEFINITION RNA binding motif protein 9 isoform 1 [Homo sapiens].
ACCESSION NP_001026865
VERSION NP_001026865.1 GI:72534682
DBSOURCE REFSEQ: accession NM_001031695.2
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 380)
AUTHORS Mauger,D.M., Lin,C. and Garcia-Blanco,M.A.
TITLE hnRNP H and hnRNP F complex with Fox2 to silence fibroblast growth
factor receptor 2 exon IIIc
JOURNAL Mol. Cell. Biol. 28 (17), 5403-5419 (2008)
PUBMED 18573884
REMARK GeneRIF: These results establish hnRNP H and hnRNP F as being
repressors of exon inclusion and suggest that Fox proteins enhance
their ability to antagonize ASF/SF2.
REFERENCE 2 (residues 1 to 380)
AUTHORS Zhou,H.L. and Lou,H.
TITLE Repression of prespliceosome complex formation at two distinct
steps by Fox-1/Fox-2 proteins
JOURNAL Mol. Cell. Biol. 28 (17), 5507-5516 (2008)
PUBMED 18573872
REMARK GeneRIF: Fox-1/Fox-2 proteins block prespliceosome complex
formation at two distinct steps through binding to two functionally
important UGCAUG elements.
REFERENCE 3 (residues 1 to 380)
AUTHORS Yang,G., Huang,S.C., Wu,J.Y. and Benz,E.J. Jr.
TITLE Regulated Fox-2 isoform expression mediates protein 4.1R splicing
during erythroid differentiation
JOURNAL Blood 111 (1), 392-401 (2008)
PUBMED 17715393
REFERENCE 4 (residues 1 to 380)
AUTHORS Ponthier,J.L., Schluepen,C., Chen,W., Lersch,R.A., Gee,S.L.,
Hou,V.C., Lo,A.J., Short,S.A., Chasis,J.A., Winkelmann,J.C. and
Conboy,J.G.
TITLE Fox-2 splicing factor binds to a conserved intron motif to promote
inclusion of protein 4.1R alternative exon 16
JOURNAL J. Biol. Chem. 281 (18), 12468-12474 (2006)
PUBMED 16537540
REMARK GeneRIF: Fox-1 and Fox-2 splicing factors have roles in alternative
splicing of protein 4.1R
REFERENCE 5 (residues 1 to 380)
AUTHORS Underwood,J.G., Boutz,P.L., Dougherty,J.D., Stoilov,P. and
Black,D.L.
TITLE Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal
splicing regulators in mammals
JOURNAL Mol. Cell. Biol. 25 (22), 10005-10016 (2005)
PUBMED 16260614
REMARK GeneRIF: Fox-1 and Fox-2 isoforms specifically activate splicing of
neuronally regulated exons, which requires UGCAUG enhancer elements
REFERENCE 6 (residues 1 to 380)
AUTHORS Collins,J.E., Goward,M.E., Cole,C.G., Smink,L.J., Huckle,E.J.,
Knowles,S., Bye,J.M., Beare,D.M. and Dunham,I.
TITLE Reevaluating human gene annotation: a second-generation analysis of
chromosome 22
JOURNAL Genome Res. 13 (1), 27-36 (2003)
PUBMED 12529303
REFERENCE 7 (residues 1 to 380)
AUTHORS Norris,J.D., Fan,D., Sherk,A. and McDonnell,D.P.
TITLE A negative coregulator for the human ER
JOURNAL Mol. Endocrinol. 16 (3), 459-468 (2002)
PUBMED 11875103
REFERENCE 8 (residues 1 to 380)
AUTHORS Lieberman,A.P., Friedlich,D.L., Harmison,G., Howell,B.W.,
Jordan,C.L., Breedlove,S.M. and Fischbeck,K.H.
TITLE Androgens regulate the mammalian homologues of invertebrate sex
determination genes tra-2 and fox-1
JOURNAL Biochem. Biophys. Res. Commun. 282 (2), 499-506 (2001)
PUBMED 11401487
REFERENCE 9 (residues 1 to 380)
AUTHORS Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
al.
TITLE The DNA sequence of human chromosome 22
JOURNAL Nature 402 (6761), 489-495 (1999)
PUBMED 10591208
REMARK Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA493176.1, BC025281.1,
AL049748.2 and AL832604.2.
Summary: This gene is one of several human genes similar to the C.
elegans gene Fox-1. This gene encodes an RNA binding protein that
is thought to be a key regulator of alternative exon splicing in
the nervous system and other cell types. The protein binds to a
conserved UGCAUG element found downstream of many alternatively
spliced exons and promotes inclusion of the alternative exon in
mature transcripts. The protein also interacts with the estrogen
receptor 1 transcription factor and regulates estrogen receptor 1
transcriptional activity. Multiple transcript variants encoding
different isoforms have been found for this gene. [provided by
RefSeq].
Transcript Variant: This variant (1) represents the longest
transcript and encodes isoform 1.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data because no single transcript was available
for the full length of the gene. The extent of this transcript is
supported by transcript alignments.
FEATURES Location/Qualifiers
source 1..380
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="22"
/map="22q13.1"
Protein 1..380
/product="RNA binding motif protein 9 isoform 1"
/note="repressor of tamoxifen transcriptional activity;
hexaribonucleotide binding protein 2; fox-1 homologue"
/calculated_mol_wt=40220
CDS 1..380
/gene="RBM9"
/gene_synonym="RTA"
/gene_synonym="fxh"
/gene_synonym="FOX2"
/gene_synonym="Fox-2"
/gene_synonym="HNRBP2"
/gene_synonym="HRNBP2"
/gene_synonym="dJ106I20.3"
/coded_by="NM_001031695.2:366..1508"
/note="isoform 1 is encoded by transcript variant 1"
/db_xref="GeneID:23543"
/db_xref="HGNC:9906"
/db_xref="HPRD:15231"
/db_xref="MIM:612149"
ORIGIN
1 mekkkmvtqg nqeptttpda mvqpfttipf ppppqngipt eygvphtqdy agqtgehnlt
61 lygstqahge qssnspstqn gsltteggaq tdgqqsqtqs senseskstp krlhvsnipf
121 rfrdpdlrqm fgqfgkildv eiifnergsk gfgfvtfens adadrarekl hgtvvegrki
181 evnnatarvm tnkkmvtpya ngwklspvvg avygpelyaa ssfqadvslg ndaavplsgr
241 ggintyipli slplvpgfpy ptaattaaaf rgahlrgrgr tvygavravp ptaipaypgv
301 vyqdgfygad lyggyaayry aqpatataat aaaaaaaays dgygrvytad pyhalapaas
361 ygvgavasly rggysrfapy
//