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2024-04-26 06:11:43, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_012245 2146 bp mRNA linear PRI 05-MAY-2013
DEFINITION Homo sapiens SNW domain containing 1 (SNW1), mRNA.
ACCESSION NM_012245
VERSION NM_012245.2 GI:18860912
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 2146)
AUTHORS Hu,L., Wu,C., Zhao,X., Heist,R., Su,L., Zhao,Y., Han,B., Cao,S.,
Chu,M., Dai,J., Dong,J., Shu,Y., Xu,L., Chen,Y., Wang,Y., Lu,F.,
Jiang,Y., Yu,D., Chen,H., Tan,W., Ma,H., Chen,J., Jin,G., Wu,T.,
Lu,D., Christiani,D.C., Lin,D., Hu,Z. and Shen,H.
TITLE Genome-wide association study of prognosis in advanced non-small
cell lung cancer patients receiving platinum-based chemotherapy
JOURNAL Clin. Cancer Res. 18 (19), 5507-5514 (2012)
PUBMED 22872573
REFERENCE 2 (bases 1 to 2146)
AUTHORS Rosa-Ferreira,C. and Munro,S.
TITLE Arl8 and SKIP act together to link lysosomes to kinesin-1
JOURNAL Dev. Cell 21 (6), 1171-1178 (2011)
PUBMED 22172677
REMARK GeneRIF: Arl8 and SKIP are required for lysosomes to distribute
away from the microtubule-organizing center. We identify two
kinesin light chain binding motifs in SKIP that are required for
lysosomes to accumulate kinesin-1 and redistribute to the cell
periphery.
REFERENCE 3 (bases 1 to 2146)
AUTHORS Tolde,O. and Folk,P.
TITLE Stress-induced expression of p53 target genes is insensitive to
SNW1/SKIP downregulation
JOURNAL Cell. Mol. Biol. Lett. 16 (3), 373-384 (2011)
PUBMED 21461980
REMARK GeneRIF: This suggests that transcription of stress response genes,
unlike, e.g., the SNW1-sensitive mitosis-specific genes, can
proceed uncoupled from regulators that normally function under
physiological conditions.
REFERENCE 4 (bases 1 to 2146)
AUTHORS Chen,Y., Zhang,L. and Jones,K.A.
TITLE SKIP counteracts p53-mediated apoptosis via selective regulation of
p21Cip1 mRNA splicing
JOURNAL Genes Dev. 25 (7), 701-716 (2011)
PUBMED 21460037
REMARK GeneRIF: SKIP is essential for p53 stress-induced expression of the
p21
REFERENCE 5 (bases 1 to 2146)
AUTHORS Villar,V., Kocic,J., Bugarski,D., Jovcic,G. and Santibanez,J.F.
TITLE SKIP is required for TGF-beta1-induced epithelial mesenchymal
transition and migration in transformed keratinocytes
JOURNAL FEBS Lett. 584 (22), 4586-4592 (2010)
PUBMED 20965173
REMARK GeneRIF: SKIP is required for epithelial mesenchymal transition and
invasiveness induced by TGF-beta1 in transformed cells.
REFERENCE 6 (bases 1 to 2146)
AUTHORS Leong,G.M., Subramaniam,N., Figueroa,J., Flanagan,J.L.,
Hayman,M.J., Eisman,J.A. and Kouzmenko,A.P.
TITLE Ski-interacting protein interacts with Smad proteins to augment
transforming growth factor-beta-dependent transcription
JOURNAL J. Biol. Chem. 276 (21), 18243-18248 (2001)
PUBMED 11278756
REFERENCE 7 (bases 1 to 2146)
AUTHORS Zhou,S., Fujimuro,M., Hsieh,J.J., Chen,L., Miyamoto,A.,
Weinmaster,G. and Hayward,S.D.
TITLE SKIP, a CBF1-associated protein, interacts with the ankyrin repeat
domain of NotchIC To facilitate NotchIC function
JOURNAL Mol. Cell. Biol. 20 (7), 2400-2410 (2000)
PUBMED 10713164
REFERENCE 8 (bases 1 to 2146)
AUTHORS Zhou,S., Fujimuro,M., Hsieh,J.J., Chen,L. and Hayward,S.D.
TITLE A role for SKIP in EBNA2 activation of CBF1-repressed promoters
JOURNAL J. Virol. 74 (4), 1939-1947 (2000)
PUBMED 10644367
REFERENCE 9 (bases 1 to 2146)
AUTHORS Baudino,T.A., Kraichely,D.M., Jefcoat,S.C. Jr., Winchester,S.K.,
Partridge,N.C. and MacDonald,P.N.
TITLE Isolation and characterization of a novel coactivator protein,
NCoA-62, involved in vitamin D-mediated transcription
JOURNAL J. Biol. Chem. 273 (26), 16434-16441 (1998)
PUBMED 9632709
REFERENCE 10 (bases 1 to 2146)
AUTHORS Dahl,R., Wani,B. and Hayman,M.J.
TITLE The Ski oncoprotein interacts with Skip, the human homolog of
Drosophila Bx42
JOURNAL Oncogene 16 (12), 1579-1586 (1998)
PUBMED 9569025
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AF045184.1.
On Feb 22, 2002 this sequence version replaced gi:6912675.
Summary: This gene, a member of the SNW gene family, encodes a
coactivator that enhances transcription from some Pol II promoters.
This coactivator can bind to the ligand-binding domain of the
vitamin D receptor and to retinoid receptors to enhance vitamin D-,
retinoic acid-, estrogen-, and glucocorticoid-mediated gene
expression. It can also function as a splicing factor by
interacting with poly(A)-binding protein 2 to directly control the
expression of muscle-specific genes at the transcriptional level.
Finally, the protein may be involved in oncogenesis since it
interacts with a region of SKI oncoproteins that is required for
transforming activity. [provided by RefSeq, Jul 2008].
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 :: AF045184.1, AK292274.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
FEATURES Location/Qualifiers
source 1..2146
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="14"
/map="14q24.3"
gene 1..2146
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/note="SNW domain containing 1"
/db_xref="GeneID:22938"
/db_xref="HGNC:16696"
/db_xref="HPRD:04340"
/db_xref="MIM:603055"
exon 1..41
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/inference="alignment:Splign:1.39.8"
CDS 28..1638
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/note="SKI-interacting protein; SKI interacting protein;
nuclear receptor coactivator, 62-kD; homolog of Drosophila
BX42; nuclear protein SkiP; nuclear receptor coactivator
NCoA-62"
/codon_start=1
/product="SNW domain-containing protein 1"
/protein_id="NP_036377.1"
/db_xref="GI:6912676"
/db_xref="CCDS:CCDS9867.1"
/db_xref="GeneID:22938"
/db_xref="HGNC:16696"
/db_xref="HPRD:04340"
/db_xref="MIM:603055"
/translation="
MALTSFLPAPTQLSQDQLEAEEKARSQRSRQTSLVSSRREPPPYGYRKGWIPRLLEDFGDGGAFPEIHVAQYPLDMGRKKKMSNALAIQVDSEGKIKYDAIARQGQSKDKVIYSKYTDLVPKEVMNADDPDLQRPDEEAIKEITEKTRVALEKSVSQKVAAAMPVRAADKLAPAQYIRYTPSQQGVAFNSGAKQRVIRMVEMQKDPMEPPRFKINKKIPRGPPSPPAPVMHSPSRKMTVKEQQEWKIPPCISNWKNAKGYTIPLDKRLAADGRGLQTVHINENFAKLAEALYIADRKAREAVEMRAQVERKMAQKEKEKHEEKLREMAQKARERRAGIKTHVEKEDGEARERDEIRHDRRKERQHDRNLSRAAPDKRSKLQRNENRDISEVIALGVPNPRTSNEVQYDQRLFNQSKGMDSGFAGGEDEIYNVYDQAWRGGKDMAQSIYRPSKNLDKDMYGDDLEARIKTNRFVPDKEFSGSDRRQRGREGPVQFEEDPFGLDKFLEEAKQHGGSKRPSDSSRPKEHEHEGKKRRKE
"
misc_feature 31..33
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/experiment="experimental evidence, no additional details
recorded"
/note="N-acetylalanine; propagated from
UniProtKB/Swiss-Prot (Q13573.1); acetylation site"
misc_feature 202..264
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13573.1);
Region: Interaction with PPIL1"
misc_feature 547..1044
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13573.1);
Region: SNW"
misc_feature 547..1032
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/note="SKIP/SNW domain; Region: SKIP_SNW; pfam02731"
/db_xref="CDD:190402"
misc_feature 697..699
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q13573.1); phosphorylation site"
misc_feature 697..699
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 697..699
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 721..723
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q13573.1); phosphorylation site"
misc_feature 721..723
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 727..729
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q13573.1); phosphorylation site"
misc_feature 727..729
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
exon 42..195
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/inference="alignment:Splign:1.39.8"
exon 196..357
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/inference="alignment:Splign:1.39.8"
variation 289
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/replace="a"
/replace="t"
/db_xref="dbSNP:11548269"
exon 358..453
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/inference="alignment:Splign:1.39.8"
exon 454..560
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/inference="alignment:Splign:1.39.8"
exon 561..665
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/inference="alignment:Splign:1.39.8"
exon 666..735
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/inference="alignment:Splign:1.39.8"
STS 718..945
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/standard_name="SHGC-75044"
/db_xref="UniSTS:52618"
exon 736..801
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/inference="alignment:Splign:1.39.8"
exon 802..918
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/inference="alignment:Splign:1.39.8"
exon 919..1060
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/inference="alignment:Splign:1.39.8"
exon 1061..1157
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/inference="alignment:Splign:1.39.8"
exon 1158..1275
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/inference="alignment:Splign:1.39.8"
exon 1276..1439
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/inference="alignment:Splign:1.39.8"
exon 1440..2127
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/inference="alignment:Splign:1.39.8"
STS 1822..2096
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/standard_name="D14S857"
/db_xref="UniSTS:16865"
STS 1825..2029
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/standard_name="D14S691E"
/db_xref="UniSTS:90646"
polyA_signal 2107..2112
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
polyA_site 2123
/gene="SNW1"
/gene_synonym="Bx42; NCOA-62; Prp45; PRPF45; SKIIP; SKIP"
/experiment="experimental evidence, no additional details
recorded"
ORIGIN
cgctcgcgctggaagaagcggaagaagatggcgctcaccagctttttacctgcacctactcagctatctcaggaccagcttgaggctgaagaaaaggcaagatcccagagatcacggcagacctcactggtctcctcccgaagagaacctcccccgtacggataccggaaaggctggatacctcggttattagaggattttggagatggaggtgcttttccagagatccatgtggcccagtatccactggatatgggacgaaagaaaaaaatgtcgaatgcgctggccattcaggtggattctgaaggaaaaattaaatatgatgcaattgctcgacaaggacagtcaaaagacaaggtcatttatagcaaatacactgacctggttccaaaggaggttatgaatgcagatgatccagacctgcaaaggcccgatgaagaagctattaaagagataacagaaaagacaagagtagccttagaaaaatctgtatcacagaaggtcgccgcagccatgccagttcgagcagctgacaaattggctcctgctcagtatatccgatacacaccatctcagcaaggagtggcattcaactctggagctaaacagagggttattcggatggtagaaatgcagaaagatccaatggagcctccaaggttcaagattaataagaaaattccccggggaccaccttctcctcctgcgcctgtcatgcattctcctagccgaaagatgactgtaaaggaacaacaagagtggaagattcctccttgtatttctaactggaaaaatgcaaagggttatacaattccattagacaaacgtctggctgctgatggaagaggactacagacagtacacataaatgaaaatttcgccaaattggcagaagccctctacattgctgatcggaaggctcgtgaagctgtggaaatgcgtgcccaagtagagagaaaaatggctcagaaagaaaaggaaaaacatgaagagaaacttagagaaatggcccagaaagccagggagagaagagctgggatcaaaactcatgtggaaaaagaggatggggaggcacgtgagagggatgaaatccggcatgacaggcgaaaagagagacagcatgaccggaatctttccagggcagctcctgataagaggtcgaaacttcagagaaatgaaaatcgggatatcagtgaagttattgctctcggtgttcctaatcctcggacttccaatgaagttcagtatgaccaaaggctcttcaaccaatccaagggtatggacagtggatttgcaggtggagaagatgaaatttataatgtttatgatcaagcctggagaggtggtaaagatatggcccagagtatttataggcccagtaaaaatctggacaaggacatgtatggtgatgacctagaagccagaataaagaccaacagatttgttcccgacaaggagttttctggttcagaccgtagacagagaggccgagaaggaccagtgcagtttgaggaagatccttttggtttggacaagtttttggaagaagccaaacagcatggtggctctaaaagaccctcagatagcagccgccccaaggaacacgagcatgaaggcaagaagaggaggaaggaataggcacaggtctctccaaagtgaatgaactcttacccataaccctaatgatgcaagtcatatgggggaacactttgtaaatggtcaggataaaaaccaaatctgggtgccagatcccagcactactttttattactggagaaatgggggggatagaaaattctactttgaattatttagttttttttaaagagtgggttgtgtttgtgcttctcccacctttcagcatttatagaacatgctgccccacatacaaagtcaagaccacttacttttatgtgacactagtagtttggggttaatgttttgtgtaagaacagctgcatatgagtaaagttaccccaaccacagtgaggaggaagatgttcacatactggaactgtcctgccaaataaattttgcccctattgtgctctgttttaatttggagtgggcaaagtaacctcttgcttggtgcaactatttgtttcaaataaaaacatttagacaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:22938 -> Molecular function: GO:0003713 [transcription coactivator activity] evidence: IDA
GeneID:22938 -> Molecular function: GO:0003714 [transcription corepressor activity] evidence: IDA
GeneID:22938 -> Molecular function: GO:0005112 [Notch binding] evidence: IPI
GeneID:22938 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:22938 -> Molecular function: GO:0035257 [nuclear hormone receptor binding] evidence: IDA
GeneID:22938 -> Molecular function: GO:0042809 [vitamin D receptor binding] evidence: IDA
GeneID:22938 -> Molecular function: GO:0042974 [retinoic acid receptor binding] evidence: IDA
GeneID:22938 -> Molecular function: GO:0046332 [SMAD binding] evidence: IDA
GeneID:22938 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IDA
GeneID:22938 -> Biological process: GO:0000398 [mRNA splicing, via spliceosome] evidence: IC
GeneID:22938 -> Biological process: GO:0000398 [mRNA splicing, via spliceosome] evidence: IDA
GeneID:22938 -> Biological process: GO:0006357 [regulation of transcription from RNA polymerase II promoter] evidence: TAS
GeneID:22938 -> Biological process: GO:0006367 [transcription initiation from RNA polymerase II promoter] evidence: TAS
GeneID:22938 -> Biological process: GO:0007219 [Notch signaling pathway] evidence: TAS
GeneID:22938 -> Biological process: GO:0010467 [gene expression] evidence: TAS
GeneID:22938 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA
GeneID:22938 -> Biological process: GO:0030511 [positive regulation of transforming growth factor beta receptor signaling pathway] evidence: IDA
GeneID:22938 -> Biological process: GO:0042771 [intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator] evidence: IMP
GeneID:22938 -> Biological process: GO:0043923 [positive regulation by host of viral transcription] evidence: IDA
GeneID:22938 -> Biological process: GO:0043923 [positive regulation by host of viral transcription] evidence: IMP
GeneID:22938 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: IDA
GeneID:22938 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IDA
GeneID:22938 -> Biological process: GO:0048026 [positive regulation of mRNA splicing, via spliceosome] evidence: IMP
GeneID:22938 -> Biological process: GO:0048384 [retinoic acid receptor signaling pathway] evidence: IDA
GeneID:22938 -> Biological process: GO:0048385 [regulation of retinoic acid receptor signaling pathway] evidence: IDA
GeneID:22938 -> Biological process: GO:0050769 [positive regulation of neurogenesis] evidence: ISS
GeneID:22938 -> Biological process: GO:0051571 [positive regulation of histone H3-K4 methylation] evidence: IMP
GeneID:22938 -> Biological process: GO:0070562 [regulation of vitamin D receptor signaling pathway] evidence: IDA
GeneID:22938 -> Biological process: GO:0070564 [positive regulation of vitamin D receptor signaling pathway] evidence: IDA
GeneID:22938 -> Biological process: GO:0071300 [cellular response to retinoic acid] evidence: IDA
GeneID:22938 -> Cellular component: GO:0000785 [chromatin] evidence: IEA
GeneID:22938 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:22938 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
GeneID:22938 -> Cellular component: GO:0005681 [spliceosomal complex] evidence: IDA
GeneID:22938 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
GeneID:22938 -> Cellular component: GO:0008024 [positive transcription elongation factor complex b] evidence: IDA
GeneID:22938 -> Cellular component: GO:0016363 [nuclear matrix] evidence: IDA
GeneID:22938 -> Cellular component: GO:0044428 [nuclear part] evidence: IDA
GeneID:22938 -> Cellular component: GO:0071013 [catalytic step 2 spliceosome] evidence: IDA
GeneID:22938 -> Cellular component: GO:0071146 [SMAD3-SMAD4 protein complex] evidence: IDA
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