2024-04-19 20:08:15, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001270392 5818 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 4, mRNA. ACCESSION NM_001270392 VERSION NM_001270392.1 GI:393715062 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 5818) AUTHORS Withanage,K., Nakagawa,K., Ikeda,M., Kurihara,H., Kudo,T., Yang,Z., Sakane,A., Sasaki,T. and Hata,Y. TITLE Expression of RASSF6 in kidney and the implication of RASSF6 and the Hippo pathway in the sorbitol-induced apoptosis in renal proximal tubular epithelial cells JOURNAL J. Biochem. 152 (1), 111-119 (2012) PUBMED 22577168 REFERENCE 2 (bases 1 to 5818) AUTHORS Shinawi,T., Hill,V., Dagklis,A., Baliakas,P., Stamatopoulos,K., Agathanggelou,A., Stankovic,T., Maher,E.R., Ghia,P. and Latif,F. TITLE KIBRA gene methylation is associated with unfavorable biological prognostic parameters in chronic lymphocytic leukemia JOURNAL Epigenetics 7 (3), 211-215 (2012) PUBMED 22430796 REFERENCE 3 (bases 1 to 5818) AUTHORS Djos,A., Martinsson,T., Kogner,P. and Caren,H. TITLE The RASSF gene family members RASSF5, RASSF6 and RASSF7 show frequent DNA methylation in neuroblastoma JOURNAL Mol. Cancer 11, 40 (2012) PUBMED 22695170 REMARK GeneRIF: The RASSF gene family members RASSF5, RASSF6 and RASSF7 show frequent DNA methylation in neuroblastoma. Publication Status: Online-Only REFERENCE 4 (bases 1 to 5818) AUTHORS Meng,W., Huebner,A., Shabsigh,A., Chakravarti,A. and Lautenschlaeger,T. TITLE Combined RASSF1A and RASSF2A Promoter Methylation Analysis as Diagnostic Biomarker for Bladder Cancer JOURNAL Mol Biol Int 2012, 701814 (2012) PUBMED 22530128 REFERENCE 5 (bases 1 to 5818) AUTHORS Wen,Y., Wang,Q., Zhou,C., Yan,D., Qiu,G., Yang,C., Tang,H. and Peng,Z. TITLE Decreased expression of RASSF6 is a novel independent prognostic marker of a worse outcome in gastric cancer patients after curative surgery JOURNAL Ann. Surg. Oncol. 18 (13), 3858-3867 (2011) PUBMED 21442347 REMARK GeneRIF: Decreased expression of RASSF6 is associated with gastric cancer. REFERENCE 6 (bases 1 to 5818) AUTHORS Hesson,L.B., Dunwell,T.L., Cooper,W.N., Catchpoole,D., Brini,A.T., Chiaramonte,R., Griffiths,M., Chalmers,A.D., Maher,E.R. and Latif,F. TITLE The novel RASSF6 and RASSF10 candidate tumour suppressor genes are frequently epigenetically inactivated in childhood leukaemias JOURNAL Mol. Cancer 8, 42 (2009) PUBMED 19570220 REMARK GeneRIF: Sequencing revealed RASSF6 and RASSF10 were the only RASSF members with a high frequency of leukaemia-specific methylation. Publication Status: Online-Only REFERENCE 7 (bases 1 to 5818) AUTHORS Hillian,A.D., Londono,D., Dunn,J.M., Goddard,K.A., Pace,R.G., Knowles,M.R. and Drumm,M.L. CONSRTM CF Gene Modifier Study Group TITLE Modulation of cystic fibrosis lung disease by variants in interleukin-8 JOURNAL Genes Immun. 9 (6), 501-508 (2008) PUBMED 18563170 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 8 (bases 1 to 5818) AUTHORS Allen,N.P., Donninger,H., Vos,M.D., Eckfeld,K., Hesson,L., Gordon,L., Birrer,M.J., Latif,F. and Clark,G.J. TITLE RASSF6 is a novel member of the RASSF family of tumor suppressors JOURNAL Oncogene 26 (42), 6203-6211 (2007) PUBMED 17404571 REMARK GeneRIF: Demonstrates properties of a Ras effector and tumor suppressor but exhibits biological properties that are unique and distinct from those of other family members. REFERENCE 9 (bases 1 to 5818) AUTHORS Ikeda,M., Hirabayashi,S., Fujiwara,N., Mori,H., Kawata,A., Iida,J., Bao,Y., Sato,Y., Iida,T., Sugimura,H. and Hata,Y. TITLE Ras-association domain family protein 6 induces apoptosis via both caspase-dependent and caspase-independent pathways JOURNAL Exp. Cell Res. 313 (7), 1484-1495 (2007) PUBMED 17367779 REMARK GeneRIF: These findings indicate that RASSF6 is implicated in apoptosis in HeLa cells and that it triggers both caspase-dependent and caspase-independent pathways. REFERENCE 10 (bases 1 to 5818) AUTHORS Hull,J., Rowlands,K., Lockhart,E., Sharland,M., Moore,C., Hanchard,N. and Kwiatkowski,D.P. TITLE Haplotype mapping of the bronchiolitis susceptibility locus near IL8 JOURNAL Hum. Genet. 114 (3), 272-279 (2004) PUBMED 14605870 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BX957171.1, AK126346.1, BX424428.2, AY217665.1, AC074250.6, CR749283.1, BM923326.1, AW070877.1, AW407403.1 and AI579909.1. Summary: This gene encodes a member of the Ras-association domain family (RASSF). Members of this family form the core of a highly conserved tumor suppressor network, the Salvador-Warts-Hippo (SWH) pathway. The protein encoded by this gene is a Ras effector protein that induces apoptosis. A genomic region containing this gene has been linked to susceptibility to viral bronchiolitis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]. Transcript Variant: This variant (4) uses two alternate in-frame exons in the 5' coding region compared to variant 1. It encodes isoform d which is shorter than isoform a. 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 :: AY217665.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025084 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-8 BX957171.1 3-10 9-84 AK126346.1 1-76 85-85 BX424428.2 2-2 86-131 AK126346.1 78-123 132-1491 AY217665.1 1-1360 1492-1627 AK126346.1 1616-1751 1628-1628 AC074250.6 69220-69220 c 1629-3062 AK126346.1 1753-3186 3063-3063 CR749283.1 3285-3285 3064-4072 AK126346.1 3188-4196 4073-4073 BM923326.1 256-256 4074-4199 AK126346.1 4198-4323 4200-4904 CR749283.1 4422-5126 4905-5168 AC074250.6 65680-65943 c 5169-5429 AW070877.1 231-491 c 5430-5668 AW407403.1 13-251 c 5669-5818 AI579909.1 1-150 c FEATURES Location/Qualifiers source 1..5818 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="4" /map="4q13.3" gene 1..5818 /gene="RASSF6" /note="Ras association (RalGDS/AF-6) domain family member 6" /db_xref="GeneID:166824" /db_xref="HGNC:20796" /db_xref="MIM:612620" exon 1..193 /gene="RASSF6" /inference="alignment:Splign:1.39.8" variation 85 /gene="RASSF6" /replace="c" /replace="t" /db_xref="dbSNP:1247590" variation 104 /gene="RASSF6" /replace="a" /replace="g" /db_xref="dbSNP:1919471" misc_feature 126..128 /gene="RASSF6" /note="upstream in-frame stop codon" CDS 132..1109 /gene="RASSF6" /note="isoform d is encoded by transcript variant 4; Ras association (RalGDS/AF-6) domain family 6; putative RAS binding protein; ras association domain-containing protein 6" /codon_start=1 /product="ras association domain-containing protein 6 isoform d" /protein_id="NP_001257321.1" /db_xref="GI:393715063" /db_xref="CCDS:CCDS58905.1" /db_xref="GeneID:166824" /db_xref="HGNC:20796" /db_xref="MIM:612620" /translation="
MLWEETGAAPAPARASDLPYRIHFLSSGLILVTRQLTEDGKLIVEGMLDIFWGVKRPIQLKIQDEKPFSSFTSMKSSDVFSSKGMTRWGEFDDLYRISELDRTQIPMSEKRNSQEDYLSYHSNTLKPHAKDEPDSPVLYRTMSEAALVRKRMKPLMMDRKERQKNRASINGHFYNHETSIFIPAFESETKVRVNSNMRTEEVIKQLLQKFKIENSPQDFALHIIFATGEQRRLKKTDIPLLQRLLQGPSEKNARIFLMDKDAEEISSDVAQYINFHFSLLESILQRLNEEEKREIQRIVTKFNKEKAIILKCLQNKLVIKTETTV
" misc_feature 654..914 /gene="RASSF6" /note="Ubiquitin-like proteins; Region: UBQ; cl00155" /db_xref="CDD:214027" misc_feature order(738..740,789..791,912..914) /gene="RASSF6" /note="charged pocket; other site" /db_xref="CDD:176352" misc_feature order(795..806,906..911) /gene="RASSF6" /note="hydrophobic patch; other site" /db_xref="CDD:176352" exon 194..239 /gene="RASSF6" /inference="alignment:Splign:1.39.8" exon 240..382 /gene="RASSF6" /inference="alignment:Splign:1.39.8" exon 383..477 /gene="RASSF6" /inference="alignment:Splign:1.39.8" exon 478..662 /gene="RASSF6" /inference="alignment:Splign:1.39.8" exon 663..764 /gene="RASSF6" /inference="alignment:Splign:1.39.8" exon 765..816 /gene="RASSF6" /inference="alignment:Splign:1.39.8" exon 817..935 /gene="RASSF6" /inference="alignment:Splign:1.39.8" exon 936..1033 /gene="RASSF6" /inference="alignment:Splign:1.39.8" exon 1034..5794 /gene="RASSF6" /inference="alignment:Splign:1.39.8" STS 1537..2457 /gene="RASSF6" /standard_name="RASSF6__6966" /db_xref="UniSTS:466414" STS 1865..1984 /gene="RASSF6" /standard_name="SHGC-67647" /db_xref="UniSTS:84052" STS 1872..2023 /gene="RASSF6" /standard_name="SHGC-53436" /db_xref="UniSTS:874" STS 5365..5503 /gene="RASSF6" /standard_name="RH93658" /db_xref="UniSTS:86088" variation 5430 /gene="RASSF6" /replace="a" /replace="c" /db_xref="dbSNP:1247673" polyA_signal 5774..5779 /gene="RASSF6" polyA_site 5794 /gene="RASSF6" ORIGIN
actgaggcacagggagtggctcaggtttcttgacacttccctgctgtggcgaaaaggagaaataattaacagctcctggggctccaggatcgctgatcgcgtcgggggcactgcaagcgcccagctgagccatgctctgggaggagacaggcgccgcccctgcgcccgcgcgggcctcggacctcccctacagaattcacttcctgtcctctggcctcattctggtcacaaggcaactgactgaagatggcaaactaattgttgaaggaatgctggacattttctggggagtaaaacgacctatacagctaaaaatacaagatgagaagccattctcttcttttactagtatgaagtcatcagacgtcttctccagcaaaggaatgacacgctggggggaatttgacgatctctatcgtattagtgagctggacaggacccagattcctatgtctgaaaaaaggaattcccaggaagactatttatcttatcacagcaacaccctgaagccacatgcaaaggatgaaccagactccccagtgctctatagaaccatgagtgaagcagctctggtgagaaaaaggatgaagcctctgatgatggacagaaaagaaagacagaaaaatagagcctctattaatggacacttctataaccatgaaacatcaattttcattccagcctttgaatcagaaactaaggtcagagtaaacagtaacatgagaactgaagaagtaataaagcaacttctccaaaaatttaagattgaaaatagtccccaggattttgctcttcacattatttttgcaacaggagaacaaagacgactaaagaagacagacattccgctactgcagaggctcctacagggaccttctgaaaagaatgctcgcattttcctcatggataaagatgcagaagaaattagcagtgatgtggctcagtacattaactttcacttttctctcttggaatccattcttcaaagattaaatgaagaagagaaaagagagattcaaagaatagtaacaaaattcaataaagaaaaggcgattatactgaaatgtcttcaaaataaactagtaataaaaacagagacaacagtttagcagtacaagcttctattgctaaaacatttcaaaaaactcagagatattactctttgatgaatgcataagttctgtacttgcatttatacgaacatatatgagacttgaatcgtagaaaattgaatgtcaaaaaaagctcatttctttttgaagtgatgaggttaattagggttcacagttggacaaaatgagtttgagtttagtttcagtaactgaaataagcttgaatactgcatatgccaaatagcttttatagtaaaccatgtaatgaactcaaatttaaatggtgtcttcagataagcagtttaaacttcatttagcttggactctcaagagaactgaaacataatcaatggattcagaaatgactcagaaaaaagaagctgccagttcttggaatgaaaaagaaatacagtcttacaccatcaaggaatctacctgatagtgacagtagcttcttgaaaactctggcattttcataaaatctaggactatcttaaatggcctgttgacttctgactatctgtaacatcagagctgtctggcctttggaaaggaaaaattatggactctgttaagaaatcctaattgaaattttctgaacctccccccagcccttttattctctctcttctgctgatgaaagacctttcatcagttcaaagcttttcttaagctcttttttaagttaattgaactttttctttatttatttttcaaaaaaatgtttatatcacatagacatattacatcggctaaagcaagacttggcccacaaatacctatttgttgctgaatgaatacaatggataaagcaaggctgttgtagctgaagttacatagggaatcccaaactctgccctcttagcatcttattctacatgacaactctcaaggtactcacagatctgtttaacccacttgaaaaaaaaacactaaaaatgaagaaatgctataagtataaactatgattttatttataaattctgtattaaaatggaattatatgcaacattctttcattctgtaaactaattccatttgcattcctcataagcattgtagtaaattgatcatattacatgtactaaggaatgagattatatgcagtaaacccaactggaagattaacaatattaaaatatgaaacatttttaagacaaaggcattacttctcagtattaccaaacctaaactggttgaaggtgaaagtgtgctatggccttttcaagcctaagaagtctctcttactgagtaaaccagaggcttgcatcgctattctttcacctgtcaatattaataagaaaatagtctcatctcacttaaatgaggcaaatgtaatagttaaaattcaacatacttataaaaaactagtgtcatgtacctgccatgaacatgacaaaaggttagtcttcaatagactgaaatgtataagagaagaaccaagtcttacatagaaaaaaaaggtagatatgaaaagaaaaatcacagaagagagaatgcaaatggccactaagtatatgaaaaaagtcgtatcttaacagtgaacaactgtgttagtctgtatcaatcagaagacagaaacaaggtagtaatttaaacagggaaagtttaatataaataataattaagctatgataggagaataataataaagatgaaaagagaaggtaccctaaggctgagggaaagaatcctaacaaggaaaggcaggaatgagggtttcagaattcactggagaaggtgtggttgcagcccactggagagaagtttgctggcttgcccaggccagagcaggaccacagatactggacaagctggtacagccaaccccctaggtgtggaccagctgaggcaggtgggcagatatgcagagggacttggggctttgccaaagggtaagcacaaagaaggagtcacgggttctgttcgaggcactgttgggattaggagccggagggacctactttgcaggaacctagcataactttgtgtgacgagactgcacaagacaaagctcaggcaagtggctcagtagttggccagcccagcagggtcctctgtatgagtgtgcacccagctgaagagaagaaatggagagcagcaattggagcttcaggaccggcttgcactgtggctccaggttataccaccactgcccaaagcaaaagctagagaagcaagtggagaaatgctggagaaagctgcaccctacaggcaaccagcactgcagaaaccactccaggcaaagtagtgaaggaaaaaagcctgctctccagtagcctggcctgtcagcctggaggaatcaggaaagaccccttcctcttgcagtgtgtctccagcgccctctactgacaaagtatgccatcatgcaagctgcaaaggaaacatttcaagagtctatatctattttcacggagcgggcaaccaacagtgaatgtggagctgagagacagtaaaataataactgacatgccaccgaagtacaaagtaaaataaataaataaatacacattttggcctattagcaaagattaagaaatgataacattaaatactcaataaatcaccatgagatggggactcaaacttctggtaaaaatacaaatagatataatttttcttgaaggcaatttagtagtctgtttatcctataattctacttgtaagatcctatcatatgaaaataaccagagatacaaagacattctgcaaagatatgttttatattgttatttattgtgacaaaaggaaataaaaagcctaaatgttcagaaaattattttaaaagatgaaagagggaaataggccatggacggtggctcacgcctgtaatcccagcactttaggaggccaaggtaggtggatcacttgaggttgggatttcgagaccagcctggccaacatggtgaaaccctgcctctactaaaaatacaaaaaatgagccgggtgcaatggcaggcacctataatgccagctactcgggaggctgaggcaggagaatcgcttgaacccgggaggcggaggttgcatgagccgagatggcgccactgctctccagcctggacgacagagcaagactccgtctctaaaaaaaaaaaaagagggaaataaacatttatttgtatattgttatgtagccattaaaattctgtttccaagtaattttaattacaggggtaaattcttatatatctaaataagaatatacacatacacatgttccaaaatatttattatgtacttaaggcatatatattatatatgtatgtgtgtgtatatatatatgtatttgtgtgtgtgaacactaatatttgcatatatatacacacaagaaataaaaacatgttaaaaatggctatatctgcattgtagaattatgagtgattcatgtttttctaacttccctatctgtattaagtgttctatagtttatatttgttactttttacatcaggaaatagtaaagttattatttaaaacttatgaacaaaaaagtaacaagcacatgcaagcacagagttctaccaaatgcaaaaaatttcaaatcaattattcaaatgagacattaacatcacttctgtggtagttttatatccataaagtctgattcttctcctttgaagagatgaagcttaatcttcctcatcctgaaaatgggctggacttagtgacttacgtctttttattttatttttaattgacaaataataattgtatgtatttatggggtacaatattatattattatatatgtatacattatggaattattaaatcaagctaattaacatatccataacctcttataatttctttgtggtgagaacatttaaaaatgtactcttttagcaattagggacttacttttaatacaggaaaatggaagagactgtgagactttgaagtaggtcataaaagtcactgtggcttcctccttgctctctcttggaccacttgctctgggggaagtcaactgccatgtcctgagcagccctggaaagacctacatgatgaagaactgagaccttctatcaaatgccagcagggaattgaggcctcctgtcaacagccattttagaagtagatcttccagcctcagtcaagccttcagatgactgcagccctgtctaatagcttgaccgtaatttcatgagagaccttcagccagaaaacccaaggaaaccattctggattcctcatcctcagaaactgtatgagataagaagtgtttgttgtagtacgccgctaaatttggggcaatttgttacatagcaatgtatagctcatacaatttctgggaaaaaaatagtttattttcgaatcatttttgcataatgcaagaatataaacttgtcacagaataatttatccttgttttaggtggtccaaatatttcattgtcagttatatattagctcaaattaaattttagataatatatattattattaatggtaaagaatgtgtcacatttatctttatagcttttctgtacctaatattgtgtcttgtgcgtaggatgtgctcaataaaaattgattgaataaataagtgaatgaaagaataaatgaatgagtgaaggaattatctgaaatatttttataaaattccccatatgtatgtattacttattacaagtctggtcccatagctgaaaaaatattaaacattatatatatataaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:166824 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:166824 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:166824 -> Biological process: GO:0007165 [signal transduction] evidence: IEA GeneID:166824 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: IEA
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