LOCUS       NM_030974               1348 bp    mRNA    linear   PRI 10-DEC-2024
DEFINITION  Homo sapiens SHANK associated RH domain interactor (SHARPIN),
            transcript variant 1, mRNA.
ACCESSION   NM_030974
VERSION     NM_030974.4
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 1348)
  AUTHORS   Nakano,Y., Masuda,T., Sakamoto,T., Tanaka,N., Tobo,T.,
            Hashimoto,M., Tatsumi,T., Saito,H., Takahashi,J., Koike,K., Abe,T.,
            Ando,Y., Ozato,Y., Hosoda,K., Hirose,K., Higuchi,S., Ikehara,T.,
            Hisamatsu,Y., Toshima,T., Yonemura,Y., Ogino,T., Uemura,M.,
            Eguchi,H., Doki,Y. and Mimori,K.
  TITLE     SHARPIN is a novel gene of colorectal cancer that promotes tumor
            growth potentially via inhibition of p53 expression
  JOURNAL   Int J Oncol 65 (6) (2024)
   PUBMED   39450547
  REMARK    GeneRIF: SHARPIN is a novel gene of colorectal cancer that promotes
            tumor growth potentially via inhibition of p53 expression.
REFERENCE   2  (bases 1 to 1348)
  AUTHORS   Oda,H., Manthiram,K., Chavan,P.P., Rieser,E., Veli,O., Kaya,O.,
            Rauch,C., Nakabo,S., Kuehn,H.S., Swart,M., Wang,Y., Celik,N.I.,
            Molitor,A., Ziaee,V., Movahedi,N., Shahrooei,M., Parvaneh,N.,
            Alipour-Olyei,N., Carapito,R., Xu,Q., Preite,S., Beck,D.B.,
            Chae,J.J., Nehrebecky,M., Ombrello,A.K., Hoffmann,P., Romeo,T.,
            Deuitch,N.T., Matthiasardottir,B., Mullikin,J., Komarow,H.,
            Stoddard,J., Niemela,J., Dobbs,K., Sweeney,C.L., Anderton,H.,
            Lawlor,K.E., Yoshitomi,H., Yang,D., Boehm,M., Davis,J., Mudd,P.,
            Randazzo,D., Tsai,W.L., Gadina,M., Kaplan,M.J., Toguchida,J.,
            Mayer,C.T., Rosenzweig,S.D., Notarangelo,L.D., Iwai,K., Silke,J.,
            Schwartzberg,P.L., Boisson,B., Casanova,J.L., Bahram,S., Rao,A.P.,
            Peltzer,N., Walczak,H., Lalaoui,N., Aksentijevich,I. and
            Kastner,D.L.
  TITLE     Biallelic human SHARPIN loss of function induces autoinflammation
            and immunodeficiency
  JOURNAL   Nat Immunol 25 (5), 764-777 (2024)
   PUBMED   38609546
  REMARK    GeneRIF: Biallelic human SHARPIN loss of function induces
            autoinflammation and immunodeficiency.
REFERENCE   3  (bases 1 to 1348)
  AUTHORS   Zhang,Y., Xu,X., Wang,Y., Wang,Y., Zhou,X. and Pan,L.
  TITLE     Mechanistic insights into the homo-dimerization of HOIL-1L and
            SHARPIN
  JOURNAL   Biochem Biophys Res Commun 689, 149239 (2023)
   PUBMED   37976837
  REMARK    GeneRIF: Mechanistic insights into the homo-dimerization of HOIL-1L
            and SHARPIN.
REFERENCE   4  (bases 1 to 1348)
  AUTHORS   Zeng,C., Lin,J., Zhang,K., Ou,H., Shen,K., Liu,Q., Wei,Z., Dong,X.,
            Zeng,X., Zeng,L., Wang,W. and Yao,J.
  TITLE     SHARPIN promotes cell proliferation of cholangiocarcinoma and
            inhibits ferroptosis via p53/SLC7A11/GPX4 signaling
  JOURNAL   Cancer Sci 113 (11), 3766-3775 (2022)
   PUBMED   35968603
  REMARK    GeneRIF: SHARPIN promotes cell proliferation of cholangiocarcinoma
            and inhibits ferroptosis via p53/SLC7A11/GPX4 signaling.
REFERENCE   5  (bases 1 to 1348)
  AUTHORS   Ma,W., Lu,Y., Qi,J., Zuo,Y., Wang,C., Zheng,X. and Liu,J.
  TITLE     Biochemical and functional characterization of the N-terminal
            ubiquitin-like domain of human SHARPIN
  JOURNAL   Protein Expr Purif 192, 106042 (2022)
   PUBMED   34965468
  REMARK    GeneRIF: Biochemical and functional characterization of the
            N-terminal ubiquitin-like domain of human SHARPIN.
REFERENCE   6  (bases 1 to 1348)
  AUTHORS   Jung,J., Kim,J.M., Park,B., Cheon,Y., Lee,B., Choo,S.H., Koh,S.S.
            and Lee,S.
  TITLE     Newly identified tumor-associated role of human Sharpin
  JOURNAL   Mol Cell Biochem 340 (1-2), 161-167 (2010)
   PUBMED   20179993
  REMARK    GeneRIF: Suggest that Sharpin is not an inert scaffold protein, but
            may play tumor-associated roles during cancer biogenesis.
REFERENCE   7  (bases 1 to 1348)
  AUTHORS   Vega,A., Salas,A., Milne,R.L., Carracedo,B., Ribas,G., Ruibal,A.,
            de Leon,A.C., Gonzalez-Hernandez,A., Benitez,J. and Carracedo,A.
  TITLE     Evaluating new candidate SNPs as low penetrance risk factors in
            sporadic breast cancer: a two-stage Spanish case-control study
  JOURNAL   Gynecol Oncol 112 (1), 210-214 (2009)
   PUBMED   18950845
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1348)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   9  (bases 1 to 1348)
  AUTHORS   Daigo,Y., Takayama,I., Ward,S.M., Sanders,K.M. and Fujino,M.A.
  TITLE     Novel human and mouse genes encoding a shank-interacting protein
            and its upregulation in gastric fundus of W/WV mouse
  JOURNAL   J Gastroenterol Hepatol 18 (6), 712-718 (2003)
   PUBMED   12753155
REFERENCE   10 (bases 1 to 1348)
  AUTHORS   Lim,S., Sala,C., Yoon,J., Park,S., Kuroda,S., Sheng,M. and Kim,E.
  TITLE     Sharpin, a novel postsynaptic density protein that directly
            interacts with the shank family of proteins
  JOURNAL   Mol Cell Neurosci 17 (2), 385-397 (2001)
   PUBMED   11178875
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL136816.1 and BE877614.1.
            
            On Nov 22, 2018 this sequence version replaced NM_030974.3.
            
            Transcript Variant: This variant (1) includes all coding exons, is
            not a candidate for nonsense-mediated decay, and encodes the
            protein product.
            
            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 :: AL136816.1, FJ655995.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2161674 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000398712.7/ ENSP00000381698.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-173               AL136816.1         189-361
            174-458             BE877614.1         103-387
            459-1348            AL136816.1         647-1536
FEATURES             Location/Qualifiers
     source          1..1348
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..1348
                     /gene="SHARPIN"
                     /gene_synonym="AIFID; SIPL1"
                     /note="SHANK associated RH domain interactor"
                     /db_xref="GeneID:81858"
                     /db_xref="HGNC:HGNC:25321"
                     /db_xref="MIM:611885"
     exon            1..221
                     /gene="SHARPIN"
                     /gene_synonym="AIFID; SIPL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..1184
                     /gene="SHARPIN"
                     /gene_synonym="AIFID; SIPL1"
                     /note="shank-interacting protein-like 1; hSIPL1;
                     shank-associated RH domain-interacting protein"
                     /codon_start=1
                     /product="sharpin"
                     /protein_id="NP_112236.3"
                     /db_xref="CCDS:CCDS43777.1"
                     /db_xref="GeneID:81858"
                     /db_xref="HGNC:HGNC:25321"
                     /db_xref="MIM:611885"
                     /translation="MAPPAGGAAAAASDLGSAAVLLAVHAAVRPLGAGPDAEAQLRRL
                     QLSADPERPGRFRLELLGAGPGAVNLEWPLESVSYTIRGPTQHELQPPPGGPGTLSLH
                     FLNPQEAQRWAVLVRGATVEGQNGSKSNSPPALGPEACPVSLPSPPEASTLKGPPPEA
                     DLPRSPGNLTEREELAGSLARAIAGGDEKGAAQVAAVLAQHRVALSVQLQEACFPPGP
                     IRLQVTLEDAASAASAASSAHVALQVHPHCTVAALQEQVFSELGFPPAVQRWVIGRCL
                     CVPERSLASYGVRQDGDPAFLYLLSAPREAPATGPSPQHPQKMDGELGRLFPPSLGLP
                     PGPQPAASSLPSPLQPSWSCPSCTFINAPDRPGCEMCSTQRPCTWDPLAAAST"
     exon            222..396
                     /gene="SHARPIN"
                     /gene_synonym="AIFID; SIPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            397..537
                     /gene="SHARPIN"
                     /gene_synonym="AIFID; SIPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            538..679
                     /gene="SHARPIN"
                     /gene_synonym="AIFID; SIPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            680..788
                     /gene="SHARPIN"
                     /gene_synonym="AIFID; SIPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            789..942
                     /gene="SHARPIN"
                     /gene_synonym="AIFID; SIPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            943..1067
                     /gene="SHARPIN"
                     /gene_synonym="AIFID; SIPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1068..1196
                     /gene="SHARPIN"
                     /gene_synonym="AIFID; SIPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1197..1348
                     /gene="SHARPIN"
                     /gene_synonym="AIFID; SIPL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1328..1333
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SHARPIN"
                     /gene_synonym="AIFID; SIPL1"
                     /note="hexamer: ATTAAA"
     polyA_site      1348
                     /gene="SHARPIN"
                     /gene_synonym="AIFID; SIPL1"
                     /note="major polyA site"
ORIGIN      
        1 gggacccggc cggaccggag atggcgccgc cagcgggcgg ggcggcggcg gcggcctcgg
       61 acttgggctc cgccgcagtg ctcttggctg tgcacgccgc ggtgaggccg ctgggcgccg
      121 ggccagacgc cgaggcacag ctgcggaggc tgcagctgag cgcggaccct gagcggcctg
      181 ggcgcttccg gctggagctg ctgggcgcgg gacctggggc ggttaatttg gagtggcccc
      241 tggagtcagt ttcctacacc atccgaggcc ccacccagca cgagctacag cctccaccag
      301 gagggcctgg aaccctcagc ctgcacttcc tcaaccctca ggaagctcag cggtgggcag
      361 tcctagtccg aggtgccacc gtggaaggac agaatggcag caagagcaac tcaccaccag
      421 ccttgggccc agaagcatgc cctgtctccc tgcccagtcc cccggaagcc tccacactca
      481 agggccctcc acctgaggca gatcttccta ggagccctgg aaacttgacg gagagagaag
      541 agctggcagg gagcctggcc cgggctattg caggtggaga cgagaagggg gcagcccaag
      601 tggcagccgt cctggcccag catcgtgtgg ccctgagtgt tcagcttcag gaggcctgct
      661 tcccacctgg ccccatcagg ctgcaggtca cacttgaaga cgctgcctct gccgcatccg
      721 ccgcgtcctc tgcacacgtt gccctgcagg tccaccccca ctgcactgtt gcagctctcc
      781 aggagcaggt gttctcagag ctcggtttcc cgccagccgt gcaacgctgg gtcatcggac
      841 ggtgcctgtg tgtgcctgag cgcagccttg cctcttacgg ggttcggcag gatggggacc
      901 ctgctttcct ctacttgctg tcagctcctc gagaagcccc agccacagga cctagccctc
      961 agcaccccca gaagatggac ggggaacttg gacgcttgtt tcccccatca ttggggctac
     1021 ccccaggccc ccagccagct gcctccagcc tgcccagtcc actccagccc agctggtcct
     1081 gtccttcctg caccttcatc aatgccccag accgccctgg ctgtgagatg tgtagcaccc
     1141 agaggccctg cacttgggac ccccttgctg cagcttccac ctagcagcca ccagaggtta
     1201 caaggggaga gtggcccttc cctcacaagt ccgacatctc caggccccca ctgaactccg
     1261 gggacctcta ctgactgctt gctgggacag tcaccagggt tggggggaag ggccacaaaa
     1321 tgaaaccatt aaagaccctt aagagcca
//
