LOCUS       NM_007341               1109 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens SH3 domain binding glutamate rich protein (SH3BGR),
            transcript variant 1, mRNA.
ACCESSION   NM_007341
VERSION     NM_007341.3
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 1109)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 1109)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (bases 1 to 1109)
  AUTHORS   Alves da Silva,A.F., Machado,F.B., Pavarino,E.C.,
            Biselli-Perico,J.M., Zampieri,B.L., da Silva Francisco Junior,R.,
            Mozer Rodrigues,P.T., Terra Machado,D., Santos-Reboucas,C.B., Gomes
            Fernandes,M., Chuva de Sousa Lopes,S.M., Lopes Rios,A.F. and
            Medina-Acosta,E.
  TITLE     Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and
            -Independent Manners
  JOURNAL   PLoS One 11 (4), e0154108 (2016)
   PUBMED   27100087
  REMARK    GeneRIF: RNA-seq evidence of biallelic expression of SH3BGR and 10
            neighboring genes in at least one primary human tissue tested
            indicates that the expression of SH3BGR is uncoupled from the
            control of the maternally inherited 5mCpG imprints at the WRB
            differentially methylated region (DMR) in disomic controls or
            trisomy (Down syndrome) individuals.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1109)
  AUTHORS   Naukkarinen,J., Surakka,I., Pietilainen,K.H., Rissanen,A.,
            Salomaa,V., Ripatti,S., Yki-Jarvinen,H., van Duijn,C.M.,
            Wichmann,H.E., Kaprio,J., Taskinen,M.R. and Peltonen,L.
  CONSRTM   ENGAGE Consortium
  TITLE     Use of genome-wide expression data to mine the 'Gray Zone' of GWA
            studies leads to novel candidate obesity genes
  JOURNAL   PLoS Genet 6 (6), e1000976 (2010)
   PUBMED   20532202
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1109)
  AUTHORS   Hu,Y.H., Warnatz,H.J., Vanhecke,D., Wagner,F., Fiebitz,A.,
            Thamm,S., Kahlem,P., Lehrach,H., Yaspo,M.L. and Janitz,M.
  TITLE     Cell array-based intracellular localization screening reveals novel
            functional features of human chromosome 21 proteins
  JOURNAL   BMC Genomics 7, 155 (2006)
   PUBMED   16780588
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1109)
  AUTHORS   Sandri,C., Di Lisi,R., Picard,A., Argentini,C., Calabria,E.,
            Myklak,K., Scartezzini,P. and Schiaffino,S.
  TITLE     Heart morphogenesis is not affected by overexpression of the Sh3bgr
            gene mapping to the Down syndrome heart critical region
  JOURNAL   Hum Genet 114 (5), 517-519 (2004)
   PUBMED   14767758
REFERENCE   7  (bases 1 to 1109)
  AUTHORS   Jiang,L.Q., Wen,S.J., Wang,H.Y. and Chen,L.Y.
  TITLE     Screening the proteins that interact with calpain in a human heart
            cDNA library using a yeast two-hybrid system
  JOURNAL   Hypertens Res 25 (4), 647-652 (2002)
   PUBMED   12358155
REFERENCE   8  (bases 1 to 1109)
  AUTHORS   Scartezzini,P., Egeo,A., Colella,S., Fumagalli,P., Arrigo,P.,
            Nizetic,D., Taramelli,R. and Rasore-Quartino,A.
  TITLE     Cloning a new human gene from chromosome 21q22.3 encoding a
            glutamic acid-rich protein expressed in heart and skeletal muscle
  JOURNAL   Hum Genet 99 (3), 387-392 (1997)
   PUBMED   9050928
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF121781.1 and AF121897.4.
            
            On Jul 10, 2020 this sequence version replaced NM_007341.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC006371.2, SRR18074967.1665784.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000333634.10/ ENSP00000332513.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-172               AF121781.1         46807-46978
            173-358             AF121781.1         57212-57397
            359-439             AF121781.1         69972-70052
            440-532             AF121897.4         6959-7051
            533-562             AF121897.4         16135-16164
            563-692             AF121897.4         18817-18946
            693-1109            AF121897.4         22225-22641
FEATURES             Location/Qualifiers
     source          1..1109
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.2"
     gene            1..1109
                     /gene="SH3BGR"
                     /gene_synonym="21-GARP"
                     /note="SH3 domain binding glutamate rich protein"
                     /db_xref="GeneID:6450"
                     /db_xref="HGNC:HGNC:10822"
                     /db_xref="MIM:602230"
     exon            1..172
                     /gene="SH3BGR"
                     /gene_synonym="21-GARP"
                     /inference="alignment:Splign:2.1.0"
     CDS             128..658
                     /gene="SH3BGR"
                     /gene_synonym="21-GARP"
                     /note="isoform a is encoded by transcript variant 1;
                     SH3-binding domain and glutamic acid-rich protein; SH3
                     domain-binding glutamic acid-rich protein"
                     /codon_start=1
                     /product="SH3 domain-binding glutamic acid-rich protein
                     isoform a"
                     /protein_id="NP_031367.2"
                     /db_xref="CCDS:CCDS13666.2"
                     /db_xref="GeneID:6450"
                     /db_xref="HGNC:HGNC:10822"
                     /db_xref="MIM:602230"
                     /translation="MVIKVFVATSSGSIAIRKKQQEVVGFLEANKIDFKELDIAGDED
                     NRRWMRENVPGEKKPQNGIPLPPQIFNEEQYCGDFDSFFSAKEENIIYSFLGLAPPPD
                     SKGSEKAEEGGETEAQKEGSEDVGNLPEAQEKNEEEGETATEETEEIAMEGAEGEAEE
                     EEETAEGEEPGEDEDS"
     exon            173..358
                     /gene="SH3BGR"
                     /gene_synonym="21-GARP"
                     /inference="alignment:Splign:2.1.0"
     exon            359..439
                     /gene="SH3BGR"
                     /gene_synonym="21-GARP"
                     /inference="alignment:Splign:2.1.0"
     exon            440..532
                     /gene="SH3BGR"
                     /gene_synonym="21-GARP"
                     /inference="alignment:Splign:2.1.0"
     exon            533..562
                     /gene="SH3BGR"
                     /gene_synonym="21-GARP"
                     /inference="alignment:Splign:2.1.0"
     exon            563..692
                     /gene="SH3BGR"
                     /gene_synonym="21-GARP"
                     /inference="alignment:Splign:2.1.0"
     exon            693..1109
                     /gene="SH3BGR"
                     /gene_synonym="21-GARP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1090..1095
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SH3BGR"
                     /gene_synonym="21-GARP"
                     /note="hexamer: AATAAA"
     polyA_site      1109
                     /gene="SH3BGR"
                     /gene_synonym="21-GARP"
                     /note="major polyA site"
ORIGIN      
        1 agtggacccc tgggctgctg ccagccccga cctggcactt gcttgcctgt gtcactgtca
       61 ggatttgtct agcggcgcat tccctgacag gggtgtgttg gggggagtcc tctttccaac
      121 tgtcgaaatg gttatcaaag tgtttgttgc tacatcttct gggtccatag cgattaggaa
      181 gaaacagcaa gaagtagtgg gttttttgga agcgaataaa atcgacttta aggaattaga
      241 tattgctgga gatgaagaca acaggaggtg gatgagagag aatgttcctg gagagaaaaa
      301 acctcaaaat gggattcctt tgcctcccca gatcttcaat gaggagcagt actgtgggga
      361 ttttgactct ttcttctctg caaaagaaga gaatattatt tattccttcc ttggtttggc
      421 tcctcctcca gactcaaagg gatcagagaa ggctgaagaa ggtggagaaa ctgaggcaca
      481 aaaagagggc agtgaagatg tgggcaacct ccctgaagcc caggagaaga atgaagaaga
      541 aggagagaca gccacagaag agacggaaga aatagccatg gagggtgcgg aaggggaagc
      601 cgaggaggag gaagaaactg cagaaggaga agagcctgga gaagacgaag attcctaggc
      661 cttttcatgc ttcatttctt ccacttctcc agaaaatgga agctatgaag caacatttca
      721 aatgtctctc cacaaaccaa actcaacaga atactttggc ttgaagccgg cacacccagg
      781 gttactgagg acttatgctg cctgacctgg ttagatgtac atggaggtat ctcccgaatc
      841 atacaaaatt aaatgtgaag accgtttatg cataccttca tgtgcctgac agtcttggct
      901 tttgaagatt tttttttctt ttttgctctg catagctaga ccatcttatt aataatactc
      961 tgaaaaaaat gatttcaagg catggaagtt ctctgtgata caacaatagt atttcttcaa
     1021 atgcgcctta tgctacttat ctcagaaaca ggttttaaaa tgaagtgctt tccagagaac
     1081 catcatataa ataaagatta atagaaaaa
//
