2024-04-20 12:10:35, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004574 1858 bp mRNA linear PRI 15-JUL-2013 DEFINITION Homo sapiens septin 4 (SEPT4), transcript variant 1, mRNA. ACCESSION NM_004574 VERSION NM_004574.3 GI:311201830 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 1858) 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 1858) 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 1858) 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 1858) 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 1858) 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 1858) 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 1858) 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 1858) 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 1858) 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 1858) 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 DA076433.1, AF073312.1 and AK294094.1. On Nov 5, 2010 this sequence version replaced gi:17986250. 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 (1) differs in the 5' UTR and coding region and initiates translation at an alternate start codon, compared to variant 7. It encodes isoform 1 (also known as PNUTL2a, H5, SEPT4_i1, bradeion beta, hcdcrel2a) which contains a distinct N-terminus and is shorter, compared to 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 :: AB008753.1, AF073312.1 [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 1-558 DA076433.1 1-558 559-1851 AF073312.1 440-1732 1852-1858 AK294094.1 1705-1711 FEATURES Location/Qualifiers source 1..1858 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="17" /map="17q22" gene 1..1858 /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="HPRD:04738" /db_xref="MIM:603696" exon 1..303 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" CDS 244..1680 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /note="isoform 1 is encoded by transcript variant 1; 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 1" /protein_id="NP_004565.1" /db_xref="GI:4758942" /db_xref="CCDS:CCDS11610.1" /db_xref="GeneID:5414" /db_xref="HGNC:9165" /db_xref="HPRD:04738" /db_xref="MIM:603696" /translation="
MDRSLGWQGNSVPEDRTEAGIKRFLEDTTDDGELSKFVKDFSGNASCHPPEAKTWASRPQVPEPRPQAPDLYDDDLEFRPPSRPQSSDNQQYFCAPAPLSPSARPRSPWGKLDPYDSSEDDKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECWKPVAEYIDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGLRPLDVEFMKALHQRVNIVPILAKADTLTPPEVDHKKRKIREEIEHFGIKIYQFPDCDSDEDEDFKLQDQALKESIPFAVIGSNTVVEARGRRVRGRLYPWGIVEVENPGHCDFVKLRTMLVRTHMQDLKDVTRETHYENYRAQCIQSMTRLVVKERNRNKLTRESGTDFPIPAVPPGTDPETEKLIREKDEELRRMQEMLHKIQKQMKENY
" misc_feature 664..1506 /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 664..1488 /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 694..717 /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(700..720,865..867,874..876,1108..1113,1117..1119, 1285..1290) /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 790..816 /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 796..798 /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 865..876 /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(871..978,979..1008) /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 1108..1119 /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 1216..1218 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (O43236.1); phosphorylation site" misc_feature 1285..1293 /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 304..600 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" exon 601..694 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" exon 695..781 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" exon 782..905 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" exon 906..1040 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" exon 1041..1158 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" exon 1159..1260 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" exon 1261..1357 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" variation 1317 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /replace="a" /replace="g" /db_xref="dbSNP:1057065" exon 1358..1520 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" variation 1440 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /replace="a" /replace="g" /db_xref="dbSNP:1057068" exon 1521..1620 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" exon 1621..1856 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /inference="alignment:Splign:1.39.8" STS 1702..1831 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /standard_name="SHGC-32067" /db_xref="UniSTS:3539" STS 1702..1826 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /standard_name="WI-15444" /db_xref="UniSTS:63743" STS 1708..1791 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" /standard_name="D17S1387E" /db_xref="UniSTS:56083" polyA_signal 1823..1828 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" polyA_signal 1833..1838 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" polyA_site 1851 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" polyA_site 1856 /gene="SEPT4" /gene_synonym="ARTS; BRADEION; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4" ORIGIN
gagctgtccttggagggtgggagccaagggaaggggaggagaagaggggtggggaaggacattccacaggcttttttggcccctgccagagacagaagggggtcaaagagaaagggaaaggagcaagccaggaagccagacaacaacagcatcaaaacaaggctgtttctgtgtgtgaggaactttgcctgggagataaaattagacctagagctttctgacagggagtctgaagcgtgggacatggaccgttcactgggatggcaagggaattctgtccctgaggacaggactgaagctgggatcaagcgtttcctggaggacaccacggatgatggagaactgagcaagttcgtgaaggatttctcaggaaatgcgagctgccacccaccagaggctaagacctgggcatccaggccccaagtcccggagccaaggccccaggccccggacctctatgatgatgacctggagttcagacccccctcgcggccccagtcctctgacaaccagcagtacttctgtgccccagcccctctcagcccatctgccaggccccgcagcccatggggcaagcttgatccctatgattcctctgaggatgacaaggagtatgtgggctttgcaaccctccccaaccaagtccaccgaaagtccgtgaagaaaggctttgactttaccctcatggtggcaggagagtctggcctgggcaaatccacacttgtcaatagcctcttcctcactgatctgtaccgggaccggaaacttcttggtgctgaagagaggatcatgcaaactgtggagatcactaagcatgcagtggacatagaagagaagggtgtgaggctgcggctcaccattgtggacacaccaggttttggggatgcagtcaacaacacagagtgctggaagcctgtggcagaatacattgatcagcagtttgagcagtatttccgagacgagagtggcctgaaccgaaagaacatccaagacaacagggtgcactgctgcctgtacttcatctcacccttcggccatgggctccggccattggatgttgaattcatgaaggccctgcatcagcgggtcaacatcgtgcctatcctggctaaggcagacacactgacacctcccgaagtggaccacaagaaacgcaaaatccgggaggagattgagcattttggaatcaagatctatcaattcccagactgtgactctgatgaggatgaggacttcaaattgcaggaccaagccctaaaggaaagcatcccatttgcagtaattggcagcaacactgtagtagaggccagagggcggcgagttcggggtcgactctacccctggggcatcgtggaagtggaaaacccagggcactgcgactttgtgaagctgaggacaatgctggtacgtacccacatgcaggacctgaaggatgtgacacgggagacacattatgagaactaccgggcacagtgcatccagagcatgacccgcctggtggtgaaggaacggaatcgcaacaaactgactcgggaaagtggtaccgacttccccatccctgctgtcccaccagggacagatccagaaactgagaagcttatccgagagaaagatgaggagctgcggcggatgcaggagatgctacacaaaatacaaaaacagatgaaggagaactattaactggctttcagccctggatatttaaatctcctcctcttcttcctgtccatgccggcccctcccagcaccagctctgctcaggccccttcagctactgccacttcgccttacatccctgctgactgcccagagactcagaggaaataaagtttaataaatctgtaggtggcttctggaa
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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
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