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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:

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

by @meso_cacase at DBCLS
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