LOCUS       NM_005343               1070 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens HRas proto-oncogene, GTPase (HRAS), transcript variant
            1, mRNA.
ACCESSION   NM_005343
VERSION     NM_005343.4
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 1070)
  AUTHORS   Ling,C., Liu,S.S., Wang,Y.Y., Huo,G.T., Yang,Y.W., Xu,N., Wang,H.,
            Wu,Y., Miao,Y.F., Fu,R., Zhao,Y.W. and Fan,C.F.
  TITLE     Overexpression of wild-type HRAS drives non-alcoholic
            steatohepatitis to hepatocellular carcinoma in mice
  JOURNAL   Zool Res 45 (3), 551-566 (2024)
   PUBMED   38757223
  REMARK    GeneRIF: Overexpression of wild-type HRAS drives non-alcoholic
            steatohepatitis to hepatocellular carcinoma in mice.
REFERENCE   2  (bases 1 to 1070)
  AUTHORS   Devi,P., Dwivedi,R., Sankar,R., Jain,A., Gupta,S. and Gupta,S.
  TITLE     Unraveling the Genetic Web: H-Ras Expression and Mutation in Oral
            Squamous Cell Carcinoma-A Systematic Review
  JOURNAL   Head Neck Pathol 18 (1), 21 (2024)
   PUBMED   38502412
  REMARK    GeneRIF: Unraveling the Genetic Web: H-Ras Expression and Mutation
            in Oral Squamous Cell Carcinoma-A Systematic Review.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1070)
  AUTHORS   Zhang,Q., Zheng,L., Bai,Y., Su,C., Che,Y., Xu,J., Sun,K., Ni,J.,
            Huang,L., Shen,Y., Jia,L., Xu,L., Yin,R., Li,M. and Hu,J.
  TITLE     ITPR1-AS1 promotes small cell lung cancer metastasis by
            facilitating P21HRAS splicing and stabilizing DDX3X to activate the
            cRaf-MEK-ERK cascade
  JOURNAL   Cancer Lett 577, 216426 (2023)
   PUBMED   37820992
  REMARK    GeneRIF: ITPR1-AS1 promotes small cell lung cancer metastasis by
            facilitating P21[HRAS] splicing and stabilizing DDX3X to activate
            the cRaf-MEK-ERK cascade.
REFERENCE   4  (bases 1 to 1070)
  AUTHORS   Wang,J., Al-Majid,D., Brenner,J.C. and Smith,J.D.
  TITLE     Mutant HRas Signaling and Rationale for Use of Farnesyltransferase
            Inhibitors in Head and Neck Squamous Cell Carcinoma
  JOURNAL   Target Oncol 18 (5), 643-655 (2023)
   PUBMED   37665491
  REMARK    GeneRIF: Mutant HRas Signaling and Rationale for Use of
            Farnesyltransferase Inhibitors in Head and Neck Squamous Cell
            Carcinoma.
            Review article
REFERENCE   5  (bases 1 to 1070)
  AUTHORS   Frey,T., Ivanovski,I., Bahr,A., Zweier,M., Laube,J., Luchsinger,I.,
            Steindl,K. and Rauch,A.
  TITLE     A very mild phenotype in six individuals of a three-generation
            family with the novel HRAS variant c.176C > G p.(Ala59Gly):
            Emergence of a new HRAS-related RASopathy distinct from Costello
            syndrome
  JOURNAL   Am J Med Genet A 191 (8), 2074-2082 (2023)
   PUBMED   37194190
  REMARK    GeneRIF: A very mild phenotype in six individuals of a
            three-generation family with the novel HRAS variant c.176C > G
            p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct
            from Costello syndrome.
REFERENCE   6  (bases 1 to 1070)
  AUTHORS   Gripp,K.W. and Weaver,K.N.
  TITLE     HRAS-Related Costello Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301680
REFERENCE   7  (bases 1 to 1070)
  AUTHORS   Sakai,E., Rikimaru,K., Ueda,M., Matsumoto,Y., Ishii,N., Enomoto,S.,
            Yamamoto,H. and Tsuchida,N.
  TITLE     The p53 tumor-suppressor gene and ras oncogene mutations in oral
            squamous-cell carcinoma
  JOURNAL   Int J Cancer 52 (6), 867-872 (1992)
   PUBMED   1459726
REFERENCE   8  (bases 1 to 1070)
  AUTHORS   Tanci,P., Genuardi,M., Santini,S.A. and Neri,G.
  TITLE     PCR detection of an insertion/deletion polymorphism in intron 1 of
            the HRAS1 locus
  JOURNAL   Nucleic Acids Res 20 (5), 1157 (1992)
   PUBMED   1549493
REFERENCE   9  (bases 1 to 1070)
  AUTHORS   Kinsella,B.T., Erdman,R.A. and Maltese,W.A.
  TITLE     Posttranslational modification of Ha-ras p21 by farnesyl versus
            geranylgeranyl isoprenoids is determined by the COOH-terminal amino
            acid
  JOURNAL   Proc Natl Acad Sci U S A 88 (20), 8934-8938 (1991)
   PUBMED   1924354
REFERENCE   10 (bases 1 to 1070)
  AUTHORS   Tong,L.A., de Vos,A.M., Milburn,M.V. and Kim,S.H.
  TITLE     Crystal structures at 2.2 A resolution of the catalytic domains of
            normal ras protein and an oncogenic mutant complexed with GDP
  JOURNAL   J Mol Biol 217 (3), 503-516 (1991)
   PUBMED   1899707
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC137894.5, BM808879.1,
            BM801600.1 and BC006499.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_005343.3.
            
            Summary: This gene belongs to the Ras oncogene family, whose
            members are related to the transforming genes of mammalian sarcoma
            retroviruses. The products encoded by these genes function in
            signal transduction pathways. These proteins can bind GTP and GDP,
            and they have intrinsic GTPase activity. This protein undergoes a
            continuous cycle of de- and re-palmitoylation, which regulates its
            rapid exchange between the plasma membrane and the Golgi apparatus.
            Mutations in this gene cause Costello syndrome, a disease
            characterized by increased growth at the prenatal stage, growth
            deficiency at the postnatal stage, predisposition to tumor
            formation, cognitive disability, skin and musculoskeletal
            abnormalities, distinctive facial appearance and cardiovascular
            abnormalities. Defects in this gene are implicated in a variety of
            cancers, including bladder cancer, follicular thyroid cancer, and
            oral squamous cell carcinoma. Multiple transcript variants, which
            encode different isoforms, have been identified for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1). Both variants 1 and 3 encode the same isoform (1).
            
            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 :: SRR1163658.195820.1,
                                           SRR1163658.446806.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2155984
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311189.8/ ENSP00000309845.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 AC137894.5         157256-157264       c
            10-87               BM808879.1         9-86
            88-814              BM801600.1         2-728
            815-1070            BC006499.2         859-1114
FEATURES             Location/Qualifiers
     source          1..1070
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..1070
                     /gene="HRAS"
                     /gene_synonym="C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO;
                     H-RASIDX; HAMSV; HRAS1; p21ras; RASH1"
                     /note="HRas proto-oncogene, GTPase"
                     /db_xref="GeneID:3265"
                     /db_xref="HGNC:HGNC:5173"
                     /db_xref="MIM:190020"
     exon            1..161
                     /gene="HRAS"
                     /gene_synonym="C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO;
                     H-RASIDX; HAMSV; HRAS1; p21ras; RASH1"
                     /inference="alignment:Splign:2.1.0"
     exon            162..325
                     /gene="HRAS"
                     /gene_synonym="C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO;
                     H-RASIDX; HAMSV; HRAS1; p21ras; RASH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             215..784
                     /gene="HRAS"
                     /gene_synonym="C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO;
                     H-RASIDX; HAMSV; HRAS1; p21ras; RASH1"
                     /EC_number="3.6.5.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Ha-Ras1 proto-oncoprotein; Ras family small GTP binding
                     protein H-Ras; Harvey rat sarcoma viral oncogene homolog;
                     p19 H-RasIDX protein; transforming protein p21; GTPase
                     HRas; GTP- and GDP-binding peptide B; transformation gene:
                     oncogene HAMSV; c-has/bas p21 protein; v-Ha-ras Harvey rat
                     sarcoma viral oncogene homolog; Harvey rat sarcoma viral
                     oncoprotein"
                     /codon_start=1
                     /product="GTPase HRas isoform 1"
                     /protein_id="NP_005334.1"
                     /db_xref="CCDS:CCDS7698.1"
                     /db_xref="GeneID:3265"
                     /db_xref="HGNC:HGNC:5173"
                     /db_xref="MIM:190020"
                     /translation="MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQV
                     VIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKR
                     VKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLV
                     REIRQHKLRKLNPPDESGPGCMSCKCVLS"
     exon            326..504
                     /gene="HRAS"
                     /gene_synonym="C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO;
                     H-RASIDX; HAMSV; HRAS1; p21ras; RASH1"
                     /inference="alignment:Splign:2.1.0"
     exon            505..664
                     /gene="HRAS"
                     /gene_synonym="C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO;
                     H-RASIDX; HAMSV; HRAS1; p21ras; RASH1"
                     /inference="alignment:Splign:2.1.0"
     exon            665..789
                     /gene="HRAS"
                     /gene_synonym="C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO;
                     H-RASIDX; HAMSV; HRAS1; p21ras; RASH1"
                     /inference="alignment:Splign:2.1.0"
     exon            790..1070
                     /gene="HRAS"
                     /gene_synonym="C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO;
                     H-RASIDX; HAMSV; HRAS1; p21ras; RASH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1048..1053
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HRAS"
                     /gene_synonym="C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO;
                     H-RASIDX; HAMSV; HRAS1; p21ras; RASH1"
                     /note="hexamer: AGTAAA"
     polyA_site      1070
                     /gene="HRAS"
                     /gene_synonym="C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO;
                     H-RASIDX; HAMSV; HRAS1; p21ras; RASH1"
                     /note="major polyA site"
ORIGIN      
        1 aggcccgccc gagtctccgc cgcccgtgcc ctgcgcccgc aacccgagcc gcacccgccg
       61 cggacggagc ccatgcgcgg ggcgaaccgc gcgcccccgc ccccgccccg ccccggcctc
      121 ggccccggcc ctggccccgg gggcagtcgc gcctgtgaac ggtggggcag gagaccctgt
      181 aggaggaccc cgggccgcag gcccctgagg agcgatgacg gaatataagc tggtggtggt
      241 gggcgccggc ggtgtgggca agagtgcgct gaccatccag ctgatccaga accattttgt
      301 ggacgaatac gaccccacta tagaggattc ctaccggaag caggtggtca ttgatgggga
      361 gacgtgcctg ttggacatcc tggataccgc cggccaggag gagtacagcg ccatgcggga
      421 ccagtacatg cgcaccgggg agggcttcct gtgtgtgttt gccatcaaca acaccaagtc
      481 ttttgaggac atccaccagt acagggagca gatcaaacgg gtgaaggact cggatgacgt
      541 gcccatggtg ctggtgggga acaagtgtga cctggctgca cgcactgtgg aatctcggca
      601 ggctcaggac ctcgcccgaa gctacggcat cccctacatc gagacctcgg ccaagacccg
      661 gcagggagtg gaggatgcct tctacacgtt ggtgcgtgag atccggcagc acaagctgcg
      721 gaagctgaac cctcctgatg agagtggccc cggctgcatg agctgcaagt gtgtgctctc
      781 ctgacgcagc acaagctcag gacatggagg tgccggatgc aggaaggagg tgcagacgga
      841 aggaggagga aggaaggacg gaagcaagga aggaaggaag ggctgctgga gcccagtcac
      901 cccgggaccg tgggccgagg tgactgcaga ccctcccagg gaggctgtgc acagactgtc
      961 ttgaacatcc caaatgccac cggaacccca gcccttagct cccctcccag gcctctgtgg
     1021 gcccttgtcg ggcacagatg ggatcacagt aaattattgg atggtcttga
//
