LOCUS       NM_006304                458 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens SEM1 26S proteasome subunit (SEM1), transcript variant
            5, mRNA.
ACCESSION   NM_006304
VERSION     NM_006304.2
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 458)
  AUTHORS   Huang,Y., Li,W., Foo,T., Ji,J.H., Wu,B., Tomimatsu,N., Fang,Q.,
            Gao,B., Long,M., Xu,J., Maqbool,R., Mukherjee,B., Ni,T., Alejo,S.,
            He,Y., Burma,S., Lan,L., Xia,B. and Zhao,W.
  TITLE     DSS1 restrains BRCA2's engagement with dsDNA for homologous
            recombination, replication fork protection, and R-loop homeostasis
  JOURNAL   Nat Commun 15 (1), 7081 (2024)
   PUBMED   39152168
  REMARK    GeneRIF: DSS1 restrains BRCA2's engagement with dsDNA for
            homologous recombination, replication fork protection, and R-loop
            homeostasis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 458)
  AUTHORS   Li,C., Chen,B., Zhang,J., Yang,J., Guo,M., Ren,Y., Zhou,Z.,
            Fung,K.M., Li,M., Zhang,L. and Liu,Z.
  TITLE     SEM1 promotes tumor progression of glioblastoma via activating the
            akt signaling pathway
  JOURNAL   Cancer Lett 577, 216368 (2023)
   PUBMED   37652287
  REMARK    GeneRIF: SEM1 promotes tumor progression of glioblastoma via
            activating the akt signaling pathway.
REFERENCE   3  (bases 1 to 458)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   4  (bases 1 to 458)
  AUTHORS   Ruidiaz,S.F., Dreier,J.E., Hartmann-Petersen,R. and Kragelund,B.B.
  TITLE     The disordered PCI-binding human proteins CSNAP and DSS1 have
            diverged in structure and function
  JOURNAL   Protein Sci 30 (10), 2069-2082 (2021)
   PUBMED   34272906
  REMARK    GeneRIF: The disordered PCI-binding human proteins CSNAP and DSS1
            have diverged in structure and function.
REFERENCE   5  (bases 1 to 458)
  AUTHORS   Gondo,N., Sakai,Y., Zhang,Z., Hato,Y., Kuzushima,K., Phimsen,S.,
            Kawashima,Y., Kuroda,M., Suzuki,M., Okada,S., Iwata,H., Toyama,T.,
            Rezano,A. and Kuwahara,K.
  TITLE     Increased chemosensitivity via BRCA2-independent DNA damage in
            DSS1- and PCID2-depleted breast carcinomas
  JOURNAL   Lab Invest 101 (8), 1048-1059 (2021)
   PUBMED   34031538
  REMARK    GeneRIF: Increased chemosensitivity via BRCA2-independent DNA
            damage in DSS1- and PCID2-depleted breast carcinomas.
REFERENCE   6  (bases 1 to 458)
  AUTHORS   Marston,N.J., Richards,W.J., Hughes,D., Bertwistle,D.,
            Marshall,C.J. and Ashworth,A.
  TITLE     Interaction between the product of the breast cancer susceptibility
            gene BRCA2 and DSS1, a protein functionally conserved from yeast to
            mammals
  JOURNAL   Mol Cell Biol 19 (7), 4633-4642 (1999)
   PUBMED   10373512
REFERENCE   7  (bases 1 to 458)
  AUTHORS   Jantti,J., Lahdenranta,J., Olkkonen,V.M., Soderlund,H. and
            Keranen,S.
  TITLE     SEM1, a homologue of the split hand/split foot malformation
            candidate gene Dss1, regulates exocytosis and pseudohyphal
            differentiation in yeast
  JOURNAL   Proc Natl Acad Sci U S A 96 (3), 909-914 (1999)
   PUBMED   9927667
REFERENCE   8  (bases 1 to 458)
  AUTHORS   Crackower,M.A., Scherer,S.W., Rommens,J.M., Hui,C.C., Poorkaj,P.,
            Soder,S., Cobben,J.M., Hudgins,L., Evans,J.P. and Tsui,L.C.
  TITLE     Characterization of the split hand/split foot malformation locus
            SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its
            expression during limb development
  JOURNAL   Hum Mol Genet 5 (5), 571-579 (1996)
   PUBMED   8733122
REFERENCE   9  (bases 1 to 458)
  AUTHORS   Roberts,S.H., Hughes,H.E., Davies,S.J. and Meredith,A.L.
  TITLE     Bilateral split hand and split foot malformation in a boy with a de
            novo interstitial deletion of 7q21.3
  JOURNAL   J Med Genet 28 (7), 479-481 (1991)
   PUBMED   1895319
REFERENCE   10 (bases 1 to 458)
  AUTHORS   Sharland,M., Patton,M.A. and Hill,L.
  TITLE     Ectrodactyly of hands and feet in a child with a complex
            translocation including 7q21.2
  JOURNAL   Am J Med Genet 39 (4), 413-414 (1991)
   PUBMED   1877619
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U41515.1 and AC073230.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 13, 2020 this sequence version replaced NM_006304.1.
            
            Summary: The product of this gene has been localized within the
            split hand/split foot malformation locus SHFM1 at chromosome 7. It
            has been proposed to be a candidate gene for the autosomal dominant
            form of the heterogeneous limb developmental disorder split
            hand/split foot malformation type 1. In addition, it has been shown
            to directly interact with BRCA2. It also may play a role in the
            completion of the cell cycle. [provided by RefSeq, Jul 2008].
            
            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 :: HY170996.1, CB110705.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2154405
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000248566.4/ ENSP00000248566.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-453               U41515.1           46-498
            454-458             AC073230.8         111141-111145       c
FEATURES             Location/Qualifiers
     source          1..458
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.3"
     gene            1..458
                     /gene="SEM1"
                     /gene_synonym="C7orf76; DSS1; ECD; PSMD15; SHFD1; Shfdg1;
                     SHFM1; SHSF1"
                     /note="SEM1 26S proteasome subunit"
                     /db_xref="GeneID:7979"
                     /db_xref="HGNC:HGNC:10845"
                     /db_xref="MIM:601285"
     exon            1..159
                     /gene="SEM1"
                     /gene_synonym="C7orf76; DSS1; ECD; PSMD15; SHFD1; Shfdg1;
                     SHFM1; SHSF1"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..296
                     /gene="SEM1"
                     /gene_synonym="C7orf76; DSS1; ECD; PSMD15; SHFD1; Shfdg1;
                     SHFM1; SHSF1"
                     /note="isoform c is encoded by transcript variant 5;
                     deleted in split-hand/split-foot 1; SEM1 26S proteasome
                     complex subunit; 26S proteasome complex subunit DSS1;
                     split hand/foot malformation (ectrodactyly) type 1; split
                     hand/foot deleted protein 1; deleted in split hand/split
                     foot protein 1; split hand/foot malformation type 1
                     protein; 26S proteasome complex subunit SEM1"
                     /codon_start=1
                     /product="26S proteasome complex subunit SEM1 isoform c"
                     /protein_id="NP_006295.1"
                     /db_xref="CCDS:CCDS5646.1"
                     /db_xref="GeneID:7979"
                     /db_xref="HGNC:HGNC:10845"
                     /db_xref="MIM:601285"
                     /translation="MSEKKQPVDLGLLEEDDEFEEFPAEDWAGLDEDEDAHVWEDNWD
                     DDNVEDDFSNQLRAELEKHGYKMETS"
     exon            160..253
                     /gene="SEM1"
                     /gene_synonym="C7orf76; DSS1; ECD; PSMD15; SHFD1; Shfdg1;
                     SHFM1; SHSF1"
                     /inference="alignment:Splign:2.1.0"
     exon            254..458
                     /gene="SEM1"
                     /gene_synonym="C7orf76; DSS1; ECD; PSMD15; SHFD1; Shfdg1;
                     SHFM1; SHSF1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      435..440
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEM1"
                     /gene_synonym="C7orf76; DSS1; ECD; PSMD15; SHFD1; Shfdg1;
                     SHFM1; SHSF1"
                     /note="hexamer: AATAAA"
     polyA_site      458
                     /gene="SEM1"
                     /gene_synonym="C7orf76; DSS1; ECD; PSMD15; SHFD1; Shfdg1;
                     SHFM1; SHSF1"
                     /note="major polyA site"
ORIGIN      
        1 agtgacggtg gcgtttcctt gaggaagagt gagggttcca acttttctgc ttatctggga
       61 ggtgttgggc gcggacagtc gagatgtcag agaaaaagca gccggtagac ttaggtctgt
      121 tagaggaaga cgacgagttt gaagagttcc ctgccgaaga ctgggctggc ttagatgaag
      181 atgaagatgc acatgtctgg gaggataatt gggatgatga caatgtagag gatgacttct
      241 ctaatcagtt acgagctgaa ctagagaaac atggttataa gatggagact tcatagcatc
      301 cagaagaagt gttgaagtaa cctaaacttg acctgcttaa tacattctag ggcagagaac
      361 ccaggatggg acactaaaaa aatgtgttta tttcattatc tgcttggatt tatttgtgtt
      421 tttgtaacac aaaaaataaa tgttttgata taatcttg
//
