LOCUS       NM_007182               1847 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens Ras association domain family member 1 (RASSF1),
            transcript variant A, mRNA.
ACCESSION   NM_007182
VERSION     NM_007182.5
KEYWORDS    RefSeq; MANE Select.
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 1847)
  AUTHORS   Zhao,J., Lu,Y., Ren,X., Bian,T., Feng,J., Sun,H., Liu,L., She,B.,
            Liu,Y. and Ke,H.
  TITLE     Association of the SHOX2 and RASSF1A methylation levels with the
            pathological evolution of early-stage lung adenocarcinoma
  JOURNAL   BMC Cancer 24 (1), 687 (2024)
   PUBMED   38840077
  REMARK    GeneRIF: Association of the SHOX2 and RASSF1A methylation levels
            with the pathological evolution of early-stage lung adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1847)
  AUTHORS   Aykanli,E., Arisan,S., Arisan,E.D. and Yavuzsan,A.H.
  TITLE     Diagnostic Value of GSTP1, RASSF1, AND RASSF2 Methylation in Serum
            of Prostate Cancer Patients
  JOURNAL   Urol J 21 (3), 182-188 (2024)
   PUBMED   38493315
  REMARK    GeneRIF: Diagnostic Value of GSTP1, RASSF1, AND RASSF2 Methylation
            in Serum of Prostate Cancer Patients.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1847)
  AUTHORS   Soboska,K., Kusinski,M., Pawelczyk,K., Migdalska-Sek,M.,
            Brzezianska-Lasota,E. and Czarnecka-Chrebelska,K.H.
  TITLE     Expression of RASSF1A, DIRAS3, and AKAP9 Genes in Thyroid Lesions:
            Implications for Differential Diagnosis and Prognosis of Thyroid
            Carcinomas
  JOURNAL   Int J Mol Sci 25 (1), 562 (2024)
   PUBMED   38203733
  REMARK    GeneRIF: Expression of RASSF1A, DIRAS3, and AKAP9 Genes in Thyroid
            Lesions: Implications for Differential Diagnosis and Prognosis of
            Thyroid Carcinomas.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1847)
  AUTHORS   Qian,T., Zhou,Z., Zhang,Q., Liou,Y.L. and Zhou,H.
  TITLE     SEPT9, H4C6, and RASSF1A methylation in nasopharyngeal swabs: A
            reflection of potential minimally invasive biomarkers for early
            screening of nasopharyngeal cancer
  JOURNAL   Medicine (Baltimore) 102 (50), e36583 (2023)
   PUBMED   38115290
  REMARK    GeneRIF: SEPT9, H4C6, and RASSF1A methylation in nasopharyngeal
            swabs: A reflection of potential minimally invasive biomarkers for
            early screening of nasopharyngeal cancer.
REFERENCE   5  (bases 1 to 1847)
  AUTHORS   Gao,A., Bai,P., Zhang,M., Yao,Y., Herman,J.G. and Guo,M.
  TITLE     RASSF1A promotes ATM signaling and RASSF1A methylation is a
            synthetic lethal marker for ATR inhibitors
  JOURNAL   Epigenomics 15 (22), 1205-1220 (2023)
   PUBMED   38093706
  REMARK    GeneRIF: RASSF1A promotes ATM signaling and RASSF1A methylation is
            a synthetic lethal marker for ATR inhibitors.
REFERENCE   6  (bases 1 to 1847)
  AUTHORS   Burbee,D.G., Forgacs,E., Zochbauer-Muller,S., Shivakumar,L.,
            Fong,K., Gao,B., Randle,D., Kondo,M., Virmani,A., Bader,S.,
            Sekido,Y., Latif,F., Milchgrub,S., Toyooka,S., Gazdar,A.F.,
            Lerman,M.I., Zabarovsky,E., White,M. and Minna,J.D.
  TITLE     Epigenetic inactivation of RASSF1A in lung and breast cancers and
            malignant phenotype suppression
  JOURNAL   J Natl Cancer Inst 93 (9), 691-699 (2001)
   PUBMED   11333291
REFERENCE   7  (bases 1 to 1847)
  AUTHORS   Dammann,R., Yang,G. and Pfeifer,G.P.
  TITLE     Hypermethylation of the cpG island of Ras association domain family
            1A (RASSF1A), a putative tumor suppressor gene from the 3p21.3
            locus, occurs in a large percentage of human breast cancers
  JOURNAL   Cancer Res 61 (7), 3105-3109 (2001)
   PUBMED   11306494
REFERENCE   8  (bases 1 to 1847)
  AUTHORS   Vos,M.D., Ellis,C.A., Bell,A., Birrer,M.J. and Clark,G.J.
  TITLE     Ras uses the novel tumor suppressor RASSF1 as an effector to
            mediate apoptosis
  JOURNAL   J Biol Chem 275 (46), 35669-35672 (2000)
   PUBMED   10998413
REFERENCE   9  (bases 1 to 1847)
  AUTHORS   Lerman,M.I. and Minna,J.D.
  TITLE     The 630-kb lung cancer homozygous deletion region on human
            chromosome 3p21.3: identification and evaluation of the resident
            candidate tumor suppressor genes. The International Lung Cancer
            Chromosome 3p21.3 Tumor Suppressor Gene Consortium
  JOURNAL   Cancer Res 60 (21), 6116-6133 (2000)
   PUBMED   11085536
REFERENCE   10 (bases 1 to 1847)
  AUTHORS   Dammann,R., Li,C., Yoon,J.H., Chin,P.L., Bates,S. and Pfeifer,G.P.
  TITLE     Epigenetic inactivation of a RAS association domain family protein
            from the lung tumour suppressor locus 3p21.3
  JOURNAL   Nat Genet 25 (3), 315-319 (2000)
   PUBMED   10888881
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF132675.1 and BC110412.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_007182.4.
            
            Summary: This gene encodes a protein similar to the RAS effector
            proteins. Loss or altered expression of this gene has been
            associated with the pathogenesis of a variety of cancers, which
            suggests the tumor suppressor function of this gene. The
            inactivation of this gene was found to be correlated with the
            hypermethylation of its CpG-island promoter region. The encoded
            protein was found to interact with DNA repair protein XPA. The
            protein was also shown to inhibit the accumulation of cyclin D1,
            and thus induce cell cycle arrest. Several alternatively spliced
            transcript variants of this gene encoding distinct isoforms have
            been reported. [provided by RefSeq, May 2011].
            
            Transcript Variant: This variant (A) lacks an in-frame coding
            segment compared to variant D, resulting an isoform (A) that lacks
            an internal region, as compared to isoform D.
            
            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 :: AF132675.1, AF102770.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000359365.9/ ENSP00000352323.4
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-672               AF132675.1         8-679
            673-1847            BC110412.1         483-1657
FEATURES             Location/Qualifiers
     source          1..1847
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1847
                     /gene="RASSF1"
                     /gene_synonym="123F2; NORE2A; RASSF1A; RDA32; REH3P21"
                     /note="Ras association domain family member 1"
                     /db_xref="GeneID:11186"
                     /db_xref="HGNC:HGNC:9882"
                     /db_xref="MIM:605082"
     exon            1..281
                     /gene="RASSF1"
                     /gene_synonym="123F2; NORE2A; RASSF1A; RDA32; REH3P21"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..1054
                     /gene="RASSF1"
                     /gene_synonym="123F2; NORE2A; RASSF1A; RDA32; REH3P21"
                     /note="isoform A is encoded by transcript variant A; tumor
                     suppressor protein RDA32; pancreas-specific ras
                     association domain family 1 protein; cardiac-specific ras
                     association domain family 1 protein; ras association
                     domain-containing protein 1; WUGSC:H_LUCA12.5; Ras
                     association (RalGDS/AF-6) domain family member 1"
                     /codon_start=1
                     /product="ras association domain-containing protein 1
                     isoform A"
                     /protein_id="NP_009113.3"
                     /db_xref="CCDS:CCDS43096.1"
                     /db_xref="GeneID:11186"
                     /db_xref="HGNC:HGNC:9882"
                     /db_xref="MIM:605082"
                     /translation="MSGEPELIELRELAPAGRAGKGRTRLERANALRIARGTACNPTR
                     QLVPGRGHRFQPAGPATHTWCDLCGDFIWGVVRKGLQCAHCKFTCHYRCRALVCLDCC
                     GPRDLGWEPAVERDTNVDEPVEWETPDLSQAEIEQKIKEYNAQINSNLFMSLNKDGSY
                     TGFIKVQLKLVRPVSVPSSKKPPSLQDARRGPGRGTSVRRRTSFYLPKDAVKHLHVLS
                     RTRAREVIEALLRKFLVVDDPRKFALFERAERHGQVYLRKLLDDEQPLRLRLLAGPSD
                     KALSFVLKENDSGEVNWDAFSMPELHNFLRILQREEEEHLRQILQKYSYCRQKIQEAL
                     HACPLG"
     exon            282..388
                     /gene="RASSF1"
                     /gene_synonym="123F2; NORE2A; RASSF1A; RDA32; REH3P21"
                     /inference="alignment:Splign:2.1.0"
     exon            389..493
                     /gene="RASSF1"
                     /gene_synonym="123F2; NORE2A; RASSF1A; RDA32; REH3P21"
                     /inference="alignment:Splign:2.1.0"
     exon            494..791
                     /gene="RASSF1"
                     /gene_synonym="123F2; NORE2A; RASSF1A; RDA32; REH3P21"
                     /inference="alignment:Splign:2.1.0"
     exon            792..907
                     /gene="RASSF1"
                     /gene_synonym="123F2; NORE2A; RASSF1A; RDA32; REH3P21"
                     /inference="alignment:Splign:2.1.0"
     exon            908..1847
                     /gene="RASSF1"
                     /gene_synonym="123F2; NORE2A; RASSF1A; RDA32; REH3P21"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1829..1834
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RASSF1"
                     /gene_synonym="123F2; NORE2A; RASSF1A; RDA32; REH3P21"
                     /note="hexamer: AATAAA"
     polyA_site      1847
                     /gene="RASSF1"
                     /gene_synonym="123F2; NORE2A; RASSF1A; RDA32; REH3P21"
                     /note="major polyA site"
ORIGIN      
        1 aaagccagcg aagcacgggc ccaaccgggc catgtcgggg gagcctgagc tcattgagct
       61 gcgggagctg gcacccgctg ggcgcgctgg gaagggccgc acccggctgg agcgtgccaa
      121 cgcgctgcgc atcgcgcggg gcaccgcgtg caaccccaca cggcagctgg tccctggccg
      181 tggccaccgc ttccagcccg cggggcccgc cacgcacacg tggtgcgacc tctgtggcga
      241 cttcatctgg ggcgtcgtgc gcaaaggcct gcagtgcgcg cattgcaagt tcacctgcca
      301 ctaccgctgc cgcgcgctcg tctgcctgga ctgttgcggg ccccgggacc tgggctggga
      361 acccgcggtg gagcgggaca cgaacgtgga cgagcctgtg gagtgggaga cacctgacct
      421 ttctcaagct gagattgagc agaagatcaa ggagtacaat gcccagatca acagcaacct
      481 cttcatgagc ttgaacaagg acggttctta cacaggcttc atcaaggttc agctgaagct
      541 ggtgcgccct gtctctgtgc cctccagcaa gaagccaccc tccttgcagg atgcccggcg
      601 gggcccagga cggggcacaa gtgtcaggcg ccgcacttcc ttttacctgc ccaaggatgc
      661 tgtcaagcac ctgcatgtgc tgtcacgcac aagggcacgt gaagtcattg aggccctgct
      721 gcgaaagttc ttggtggtgg atgacccccg caagtttgca ctctttgagc gcgctgagcg
      781 tcacggccaa gtgtacttgc ggaagctgtt ggatgatgag cagcccctgc ggctgcggct
      841 cctggcaggg cccagtgaca aggccctgag ctttgtcctg aaggaaaatg actctgggga
      901 ggtgaactgg gacgccttca gcatgcctga actacataac ttcctacgta tcctgcagcg
      961 ggaggaggag gagcacctcc gccagatcct gcagaagtac tcctattgcc gccagaagat
     1021 ccaagaggcc ctgcacgcct gcccccttgg gtgacctctt gtacccccag gtggaaggca
     1081 gacagcaggc agcgccaagt gcgtgccgtg tgagtgtgac agggccagtg gggcctgtgg
     1141 aatgagtgtg catggaggcc ctcctgtgct gggggaatga gcccagagaa cagcgaagta
     1201 gcttgctccc tgtgtccacc tgtgggtgta gccaggtatg gctctgcacc cctctgccct
     1261 cattactggg ccttagtggg ccagggctgc cctgagaagc tgctccaggc ctgcagcagg
     1321 agtggtgcag acagaagtct cctcaatttt tgtctcagaa gtgaaaatct tggagaccct
     1381 gcaaacagaa cagggtcatg tttgcagggg tgacggccct catctatgag gaaaggtttt
     1441 ggatcttgaa tgtggtctca ggatatcctt atcagagcta agggtgggtg ctcagaataa
     1501 ggcaggcatt gaggaagagt cttggtttct ctctacagtg ccaactcctc acacaccctg
     1561 aggtcaggga gtgctggctc acagtacagc atgtgcctta atgcttcata tgaggaggat
     1621 gtccctgggc cagggtctgt gtgaatgtgg gcactggccc aggttcatac cttatttgct
     1681 aatcaaagcc agggtctctc cctcaggtgt tttttatgaa gtgcgtgaat gtatgtaatg
     1741 tgtggtggcc tcagctgaat gcctcctgtg gggaaagggg ttggggtgac agtcatcatc
     1801 agggcctggg gcctgagaga attggctcaa taaagatttc aagatcc
//
