LOCUS       NM_006613               1988 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens GRB2 related adaptor protein (GRAP), transcript
            variant 1, mRNA.
ACCESSION   NM_006613 XM_941681
VERSION     NM_006613.4
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 1988)
  AUTHORS   Liu,P., Zhang,A., Ding,Z., Dai,D., Li,B., Liu,S.F., Xu,J.,
            Cheng,Z., Zhao,S., Zhao,X. and Dong,J.
  TITLE     m6A Modification-mediated GRAP Regulates Vascular Remodeling in
            Hypoxic Pulmonary Hypertension
  JOURNAL   Am J Respir Cell Mol Biol 67 (5), 574-588 (2022)
   PUBMED   35972996
  REMARK    GeneRIF: m(6)A Modification-mediated GRAP Regulates Vascular
            Remodeling in Hypoxic Pulmonary Hypertension.
REFERENCE   2  (bases 1 to 1988)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1988)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1988)
  AUTHORS   Li,C., Bademci,G., Subasioglu,A., Diaz-Horta,O., Zhu,Y., Liu,J.,
            Mitchell,T.G., Abad,C., Seyhan,S., Duman,D., Cengiz,F.B.,
            Tokgoz-Yilmaz,S., Blanton,S.H., Farooq,A., Walz,K., Zhai,R.G. and
            Tekin,M.
  TITLE     Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is
            linked to sensorineural hearing loss
  JOURNAL   Proc Natl Acad Sci U S A 116 (4), 1347-1352 (2019)
   PUBMED   30610177
  REMARK    GeneRIF: The function of the growth factor receptor-bound protein 2
            (GRB2)-related adaptor protein (GRAP) in the auditory system is not
            known.
REFERENCE   5  (bases 1 to 1988)
  AUTHORS   Lu,M., Wang,C., Chen,W., Mao,C. and Wang,J.
  TITLE     miR-654-5p Targets GRAP to Promote Proliferation, Metastasis, and
            Chemoresistance of Oral Squamous Cell Carcinoma Through Ras/MAPK
            Signaling
  JOURNAL   DNA Cell Biol 37 (4), 381-388 (2018)
   PUBMED   29364705
  REMARK    GeneRIF: Findings suggest that the miR-654-5p/GRAP/Ras/Erk
            signaling pathway in OSCC cells might contribute to the underlying
            mechanism through which miR-654-5p participates in the regulation
            of OSCC progression.
REFERENCE   6  (bases 1 to 1988)
  AUTHORS   Wenzel,J., Sanzenbacher,R., Ghadimi,M., Lewitzky,M., Zhou,Q.,
            Kaplan,D.R., Kabelitz,D., Feller,S.M. and Janssen,O.
  TITLE     Multiple interactions of the cytosolic polyproline region of the
            CD95 ligand: hints for the reverse signal transduction capacity of
            a death factor
  JOURNAL   FEBS Lett 509 (2), 255-262 (2001)
   PUBMED   11741599
REFERENCE   7  (bases 1 to 1988)
  AUTHORS   Welsh,M., Songyang,Z., Frantz,J.D., Trub,T., Reedquist,K.A.,
            Karlsson,T., Miyazaki,M., Cantley,L.C., Band,H. and Shoelson,S.E.
  TITLE     Stimulation through the T cell receptor leads to interactions
            between SHB and several signaling proteins
  JOURNAL   Oncogene 16 (7), 891-901 (1998)
   PUBMED   9484780
REFERENCE   8  (bases 1 to 1988)
  AUTHORS   Zhang,W., Sloan-Lancaster,J., Kitchen,J., Trible,R.P. and
            Samelson,L.E.
  TITLE     LAT: the ZAP-70 tyrosine kinase substrate that links T cell
            receptor to cellular activation
  JOURNAL   Cell 92 (1), 83-92 (1998)
   PUBMED   9489702
REFERENCE   9  (bases 1 to 1988)
  AUTHORS   Trub,T., Frantz,J.D., Miyazaki,M., Band,H. and Shoelson,S.E.
  TITLE     The role of a lymphoid-restricted, Grb2-like SH3-SH2-SH3 protein in
            T cell receptor signaling
  JOURNAL   J Biol Chem 272 (2), 894-902 (1997)
   PUBMED   8995379
REFERENCE   10 (bases 1 to 1988)
  AUTHORS   Feng,G.S., Ouyang,Y.B., Hu,D.P., Shi,Z.Q., Gentz,R. and Ni,J.
  TITLE     Grap is a novel SH3-SH2-SH3 adaptor protein that couples tyrosine
            kinases to the Ras pathway
  JOURNAL   J Biol Chem 271 (21), 12129-12132 (1996)
   PUBMED   8647802
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC063035.1 and AC003957.1.
            
            On Aug 2, 2019 this sequence version replaced NM_006613.3.
            
            Summary: This gene encodes a member of the GRB2/Sem5/Drk family and
            functions as a cytoplasmic signaling protein which contains an SH2
            domain flanked by two SH3 domains. The SH2 domain interacts with
            ligand-activated receptors for stem cell factor and erythropoietin,
            and facilitates the formation of a stable complex with the BCR-ABL
            oncoprotein. This protein also associates with the Ras guanine
            nucleotide exchange factor SOS1 (son of sevenless homolog 1)
            through its N-terminal SH3 domain. In general, it couples signals
            from receptor and cytoplasmic tyrosine kinases to the Ras signaling
            pathway. [provided by RefSeq, Jul 2012].
            
            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 :: BC063035.1, SRR1660803.86767.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000284154.10/ ENSP00000284154.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1768              BC063035.1         39-1806
            1769-1769           AC003957.1         12563-12563
            1770-1967           BC063035.1         1808-2005
            1968-1988           AC003957.1         12762-12782
FEATURES             Location/Qualifiers
     source          1..1988
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..1988
                     /gene="GRAP"
                     /gene_synonym="DFNB114"
                     /note="GRB2 related adaptor protein"
                     /db_xref="GeneID:10750"
                     /db_xref="HGNC:HGNC:4562"
                     /db_xref="MIM:604330"
     exon            1..109
                     /gene="GRAP"
                     /gene_synonym="DFNB114"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..685
                     /gene="GRAP"
                     /gene_synonym="DFNB114"
                     /note="isoform 1 is encoded by transcript variant 1;
                     growth factor receptor-bound protein 2-related adaptor
                     protein; GRB2-related adapter protein"
                     /codon_start=1
                     /product="GRB2-related adapter protein isoform 1"
                     /protein_id="NP_006604.1"
                     /db_xref="CCDS:CCDS11202.1"
                     /db_xref="GeneID:10750"
                     /db_xref="HGNC:HGNC:4562"
                     /db_xref="MIM:604330"
                     /translation="MESVALYSFQATESDELAFNKGDTLKILNMEDDQNWYKAELRGV
                     EGFIPKNYIRVKPHPWYSGRISRQLAEEILMKRNHLGAFLIRESESSPGEFSVSVNYG
                     DQVQHFKVLREASGKYFLWEEKFNSLNELVDFYRTTTIAKKRQIFLRDEEPLLKSPGA
                     CFAQAQFDFSAQDPSQLSFRRGDIIEVLERPDPHWWRGRSCGRVGFFPRSYVQPVHL"
     exon            110..207
                     /gene="GRAP"
                     /gene_synonym="DFNB114"
                     /inference="alignment:Splign:2.1.0"
     exon            208..330
                     /gene="GRAP"
                     /gene_synonym="DFNB114"
                     /inference="alignment:Splign:2.1.0"
     exon            331..499
                     /gene="GRAP"
                     /gene_synonym="DFNB114"
                     /inference="alignment:Splign:2.1.0"
     exon            500..1988
                     /gene="GRAP"
                     /gene_synonym="DFNB114"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1940..1945
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRAP"
                     /gene_synonym="DFNB114"
                     /note="hexamer: AGTAAA"
     polyA_site      1976
                     /gene="GRAP"
                     /gene_synonym="DFNB114"
     polyA_site      1988
                     /gene="GRAP"
                     /gene_synonym="DFNB114"
                     /note="major polyA site"
ORIGIN      
        1 gagcccagct gctggagccc cgagcagcgg catggagtcc gtggccctgt acagctttca
       61 ggctacagag agcgacgagc tggccttcaa caagggagac acactcaaga tcctgaacat
      121 ggaggatgac cagaactggt acaaggccga gctccggggt gtcgagggat ttattcccaa
      181 gaactacatc cgcgtcaagc cccatccgtg gtactcgggc aggatttccc ggcagctggc
      241 cgaagagatt ctgatgaagc ggaaccatct gggagccttc ctgatccggg agagtgagag
      301 ctccccaggg gagttctctg tgtctgtgaa ctatggagac caggtgcagc acttcaaggt
      361 gctgcgtgag gcctcgggga agtacttcct gtgggaggag aagttcaact ccctcaacga
      421 gctggtcgac ttctaccgca ccaccaccat cgccaagaag cggcagatct tcctgcgcga
      481 cgaggagccc ttgctcaagt cacctggggc ctgctttgcc caggcccagt ttgacttctc
      541 agcccaggac ccctcgcagc tcagcttccg ccgtggcgac atcattgagg tcctggagcg
      601 cccagacccc cactggtggc ggggccggtc ctgcgggcgc gttggcttct tcccacggag
      661 ttacgtgcag cccgtgcacc tgtgagcagc ccggcggccg atctggccaa cgggcctttt
      721 tacaggaact gaggtccaga gaggacatgg acacccccag ctctgtcaga gtcacacggg
      781 gctcagtgga cggccttgga ctgaacgtgg gctcctaact gcctccggcc gctctgcaca
      841 aactgggatg gcccaggtcc cccagcaagg gtacccagca agggtagctc cggggcttcc
      901 tggctggttg ctttccattg gctgccagct gtgtgacacc acagggcgga gtctgtggag
      961 gccccgccca cctcctcttg tcaatggccc catctgccag gaaggttgag gactcccagg
     1021 tttcacccac tggaggctca acctaaggaa ccctggccat ggtgggtggg ttcaccttgg
     1081 gctgaccacc cactgggcct gcctgcccct ccctcaaaag gcccctggag ttgttcaggc
     1141 tgttgggagg tggctcagcc tcgaaggaca gactgcacac ctgttgacct aaactcactg
     1201 gacagactcc aggtggacac caactcctca acagccccat gacttcagct ccacctgggg
     1261 cacccagcac cccaccacag ggctagaggc cctaagaccc tgaaaaaggg gcgggcagta
     1321 gggaaggtgg aggcacactc ctcttctgtt ggacaggtga gctctgaggg caagccctgg
     1381 gcccagccac gcagagaccc tggctgccct ggctcttgtt tgtttaggcc caggttctgc
     1441 ccagaccggg gcccagcaga gctctcagga ggctgagaaa cctccagggc agacagaaag
     1501 ttggggccag agctaggttt tagagatcct acaggatccc acatgggacg gctacctagg
     1561 tggggcacgg cccctacccg agaacaggag ggtcctccag agaatgtgcc atgatcaggg
     1621 atatgagcag ggcctgccca gagcctgggc acctttggga gagggaaaag tgaggtggga
     1681 cttggaaagg ctttgaacgc caggctgatg gttgagggat ggtgggcagg gagggagggc
     1741 gaagaggctc cctctggcat ttgggagccg gtgggtggag ggaggagccc ttggaggtgg
     1801 ctgcagtccc ttaatggggg gccttgctct gggcatgtgg ggctcttcct ccatccagag
     1861 ctggcccaag acccttagaa ccctgagtgc tggcaaatct cactgctcct gacccagcct
     1921 gtgtattcaa aacgaaaaca gtaaaaccaa catcaggatg tccgtcagaa atctaatttt
     1981 ccttccaa
//
