2024-04-26 06:50:05, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001256782 1803 bp mRNA linear PRI 15-JUL-2013 DEFINITION Homo sapiens septin 4 (SEPT4), transcript variant 7, mRNA. ACCESSION NM_001256782 VERSION NM_001256782.1 GI:377652330 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 1803) AUTHORS Kim,J.B., Kim,S.Y., Kim,B.M., Lee,H., Kim,I., Yun,J., Jo,Y., Oh,T., Jo,Y., Chae,H.D. and Shin,D.Y. TITLE Identification of a novel anti-apoptotic E3 ubiquitin ligase that ubiquitinates antagonists of inhibitor of apoptosis proteins SMAC, HtrA2, and ARTS JOURNAL J. Biol. Chem. 288 (17), 12014-12021 (2013) PUBMED 23479728 REMARK GeneRIF: Identification of a novel anti-apoptotic E3 ubiquitin ligase that ubiquitinates antagonists of inhibitor of apoptosis proteins SMAC, HtrA2, and ARTS. REFERENCE 2 (bases 1 to 1803) AUTHORS Bongiovanni,L., Pirozzi,F., Guidi,F., Orsini,M., Chiurazzi,P., Bassi,P.F. and Racioppi,M. TITLE Bradeion (SEPT4) as a urinary marker of transitional cell bladder cancer: a real-time polymerase chain reaction study of gene expression JOURNAL J. Urol. 187 (6), 2223-2227 (2012) PUBMED 22503047 REMARK GeneRIF: Bradeion/SEPT4 transcript levels are significantly increased in patients with transitional cell bladder cancer.We hypothesize that Bradeion is directly involved in bladder cancer pathogenesis with the highest expression at early cancer stages. REFERENCE 3 (bases 1 to 1803) AUTHORS Shen,S., Liu,M., Wu,Y., Saiyin,H., Liu,G. and Yu,L. TITLE Involvement of SEPT4_i1 in hepatocellular carcinoma: SEPT4_i1 regulates susceptibility to apoptosis in hepatocellular carcinoma cells JOURNAL Mol. Biol. Rep. 39 (4), 4519-4526 (2012) PUBMED 21952823 REMARK GeneRIF: these data suggests a tumor suppressor role of SEPT4_i1 in HCC through regulating hepatocellular carcinoma cell apoptosis. REFERENCE 4 (bases 1 to 1803) AUTHORS Liu,W. TITLE SEPT4 is regulated by the Notch signaling pathway JOURNAL Mol. Biol. Rep. 39 (4), 4401-4409 (2012) PUBMED 21938432 REMARK GeneRIF: SEPT4 is a Notch target gene. REFERENCE 5 (bases 1 to 1803) AUTHORS Larisch,S. TITLE The ARTS connection: role of ARTS in apoptosis and cancer JOURNAL Cell Cycle 3 (8), 1021-1023 (2004) PUBMED 15254396 REMARK Review article REFERENCE 6 (bases 1 to 1803) AUTHORS Tanaka,M., Tanaka,T., Kijima,H., Itoh,J., Matsuda,T., Hori,S. and Yamamoto,M. TITLE Characterization of tissue- and cell-type-specific expression of a novel human septin family gene, Bradeion JOURNAL Biochem. Biophys. Res. Commun. 286 (3), 547-553 (2001) PUBMED 11511094 REFERENCE 7 (bases 1 to 1803) AUTHORS Zieger,B., Tran,H., Hainmann,I., Wunderle,D., Zgaga-Griesz,A., Blaser,S. and Ware,J. TITLE Characterization and expression analysis of two human septin genes, PNUTL1 and PNUTL2 JOURNAL Gene 261 (2), 197-203 (2000) PUBMED 11167005 REFERENCE 8 (bases 1 to 1803) AUTHORS Larisch,S., Yi,Y., Lotan,R., Kerner,H., Eimerl,S., Tony Parks,W., Gottfried,Y., Birkey Reffey,S., de Caestecker,M.P., Danielpour,D., Book-Melamed,N., Timberg,R., Duckett,C.S., Lechleider,R.J., Steller,H., Orly,J., Kim,S.J. and Roberts,A.B. TITLE A novel mitochondrial septin-like protein, ARTS, mediates apoptosis dependent on its P-loop motif JOURNAL Nat. Cell Biol. 2 (12), 915-921 (2000) PUBMED 11146656 REFERENCE 9 (bases 1 to 1803) AUTHORS Paavola,P., Horelli-Kuitunen,N., Palotie,A. and Peltonen,L. TITLE Characterization of a novel gene, PNUTL2, on human chromosome 17q22-q23 and its exclusion as the Meckel syndrome gene JOURNAL Genomics 55 (1), 122-125 (1999) PUBMED 9889007 REFERENCE 10 (bases 1 to 1803) AUTHORS Xie,H., Surka,M., Howard,J. and Trimble,W.S. TITLE Characterization of the mammalian septin H5: distinct patterns of cytoskeletal and membrane association from other septin proteins JOURNAL Cell Motil. Cytoskeleton 43 (1), 52-62 (1999) PUBMED 10340703 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK301914.1, BC142968.1 and AK294094.1. Summary: This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010]. Transcript Variant: This variant (7) encodes the longest isoform (5). 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 :: AK301914.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-1386 AK301914.1 1-1386 1387-1467 BC142968.1 1717-1797 1468-1726 AK301914.1 1468-1726 1727-1791 BC142968.1 2212-2276 1792-1803 AK294094.1 1698-1709 FEATURES Location/Qualifiers source 1..1803 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="17" /map="17q22" gene 1..1803 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /note="septin 4" /db_xref="GeneID:5414" /db_xref="HGNC:9165" /db_xref="MIM:603696" exon 1..153 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" misc_feature 140..142 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /note="upstream in-frame stop codon" CDS 146..1627 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /note="isoform 5 is encoded by transcript variant 7; septin-M; cell division control-related protein 2; cerebral protein 7; CE5B3 beta; bradeion beta; brain protein H5; peanut-like protein 2; apoptosis-related protein in the TGF-beta signaling pathway" /codon_start=1 /product="septin-4 isoform 5" /protein_id="NP_001243711.1" /db_xref="GI:377652331" /db_xref="CCDS:CCDS58582.1" /db_xref="GeneID:5414" /db_xref="HGNC:9165" /db_xref="MIM:603696" /translation="
MRSSPALFSSRAAPQKPRKEGSQAAGLLVFSDSLEIKRFLEDTTDDGELSKFVKDFSGNASCHPPEAKTWASRPQVPEPRPQAPDLYDDDLEFRPPSRPQSSDNQQYFCAPAPLSPSARPRSPWGKLDPYDSSEDDKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECWKPVAEYIDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGLRPLDVEFMKALHQRVNIVPILAKADTLTPPEVDHKKRKIREEIEHFGIKIYQFPDCDSDEDEDFKLQDQALKESIPFAVIGSNTVVEARGRRVRGRLYPWGIVEVENPGHCDFVKLRTMLVRTHMQDLKDVTRETHYENYRAQCIQSMTRLVVKERNRNKLTRESGTDFPIPAVPPGTDPETEKLIREKDEELRRMQEMLHKIQKQMKENY
" misc_feature 611..1453 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /note="Septin; Region: Septin; pfam00735" /db_xref="CDD:201420" misc_feature 611..1435 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /note="CDC/Septin GTPase family; Region: CDC_Septin; cd01850" /db_xref="CDD:206649" misc_feature 641..664 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /note="G1 box; other site" /db_xref="CDD:206649" misc_feature order(647..667,812..814,821..823,1055..1060,1064..1066, 1232..1237) /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /note="GTP/Mg2+ binding site [chemical binding]; other site" /db_xref="CDD:206649" misc_feature 737..763 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /note="Switch I region; other site" /db_xref="CDD:206649" misc_feature 743..745 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /note="G2 box; other site" /db_xref="CDD:206649" misc_feature 812..823 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /note="G3 box; other site" /db_xref="CDD:206649" misc_feature order(818..925,926..955) /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /note="Switch II region; other site" /db_xref="CDD:206649" misc_feature 1055..1066 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /note="G4 box; other site" /db_xref="CDD:206649" misc_feature 1232..1240 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /note="G5 box; other site" /db_xref="CDD:206649" exon 154..250 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" exon 251..547 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" exon 548..641 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" exon 642..728 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" exon 729..852 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" exon 853..987 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" exon 988..1105 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" exon 1106..1207 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" exon 1208..1304 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" variation 1264 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /replace="a" /replace="g" /db_xref="dbSNP:1057065" exon 1305..1467 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" variation 1387 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /replace="a" /replace="g" /db_xref="dbSNP:1057068" exon 1468..1567 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" exon 1568..1803 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" STS 1649..1778 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /standard_name="SHGC-32067" /db_xref="UniSTS:3539" STS 1649..1773 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /standard_name="WI-15444" /db_xref="UniSTS:63743" STS 1655..1738 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /standard_name="D17S1387E" /db_xref="UniSTS:56083" polyA_signal 1780..1785 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" polyA_site 1803 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" ORIGIN
acttgcactaggaagggattgggccaggtttgcccaagtccactgggcatctttagtaaatttctctttttctcctcctattggcactctctgaattccatttgctgccccctgggaatgcctggcttctactctgttatgacagatgaggagctctccagccctgttcagcagcagagctgctccccagaagccaagaaaagaaggctcccaagcagctgggctgctggtcttctctgactctctggagatcaagcgtttcctggaggacaccacggatgatggagaactgagcaagttcgtgaaggatttctcaggaaatgcgagctgccacccaccagaggctaagacctgggcatccaggccccaagtcccggagccaaggccccaggccccggacctctatgatgatgacctggagttcagacccccctcgcggccccagtcctctgacaaccagcagtacttctgtgccccagcccctctcagcccatctgccaggccccgcagcccatggggcaagcttgatccctatgattcctctgaggatgacaaggagtatgtgggctttgcaaccctccccaaccaagtccaccgaaagtccgtgaagaaaggctttgactttaccctcatggtggcaggagagtctggcctgggcaaatccacacttgtcaatagcctcttcctcactgatctgtaccgggaccggaaacttcttggtgctgaagagaggatcatgcaaactgtggagatcactaagcatgcagtggacatagaagagaagggtgtgaggctgcggctcaccattgtggacacaccaggttttggggatgcagtcaacaacacagagtgctggaagcctgtggcagaatacattgatcagcagtttgagcagtatttccgagacgagagtggcctgaaccgaaagaacatccaagacaacagggtgcactgctgcctgtacttcatctcacccttcggccatgggctccggccattggatgttgaattcatgaaggccctgcatcagcgggtcaacatcgtgcctatcctggctaaggcagacacactgacacctcccgaagtggaccacaagaaacgcaaaatccgggaggagattgagcattttggaatcaagatctatcaattcccagactgtgactctgatgaggatgaggacttcaaattgcaggaccaagccctaaaggaaagcatcccatttgcagtaattggcagcaacactgtagtagaggccagagggcggcgagttcggggtcgactctacccctggggcatcgtggaagtggaaaacccagggcactgcgactttgtgaagctgaggacaatgctggtacgtacccacatgcaggacctgaaggatgtgacacgggagacacattatgagaactaccgggcacagtgcatccagagcatgacccgcctggtggtgaaggaacggaatcgcaacaaactgactcgggaaagtggtaccgacttccccatccctgctgtcccaccagggacagatccagaaactgagaagcttatccgagagaaagatgaggagctgcggcggatgcaggagatgctacacaaaatacaaaaacagatgaaggagaactattaactggctttcagccctggatatttaaatctcctcctcttcttcctgtccatgccggcccctcccagcaccagctctgctcaggccccttcagctactgccacttcgccttacatccctgctgactgcccagagactcagaggaaataaagtttaataaatctgtaggtggcttctgg
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:5414 -> Molecular function: GO:0003924 [GTPase activity] evidence: TAS GeneID:5414 -> Molecular function: GO:0005198 [structural molecule activity] evidence: TAS GeneID:5414 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:5414 -> Molecular function: GO:0005525 [GTP binding] evidence: IEA GeneID:5414 -> Biological process: GO:0000910 [cytokinesis] evidence: TAS GeneID:5414 -> Biological process: GO:0006184 [GTP catabolic process] evidence: TAS GeneID:5414 -> Biological process: GO:0006915 [apoptotic process] evidence: NAS GeneID:5414 -> Biological process: GO:0007420 [brain development] evidence: IEA GeneID:5414 -> Biological process: GO:0030382 [sperm mitochondrion organization] evidence: IEA GeneID:5414 -> Biological process: GO:0031398 [positive regulation of protein ubiquitination] evidence: IDA GeneID:5414 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: NAS GeneID:5414 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: IDA GeneID:5414 -> Biological process: GO:0048240 [sperm capacitation] evidence: IEA GeneID:5414 -> Biological process: GO:2001244 [positive regulation of intrinsic apoptotic signaling pathway] evidence: IMP GeneID:5414 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:5414 -> Cellular component: GO:0005634 [nucleus] evidence: NAS GeneID:5414 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA GeneID:5414 -> Cellular component: GO:0005739 [mitochondrion] evidence: NAS GeneID:5414 -> Cellular component: GO:0005856 [cytoskeleton] evidence: IEA GeneID:5414 -> Cellular component: GO:0031514 [motile cilium] evidence: IEA
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.