LOCUS       NM_023248               1562 bp    mRNA    linear   ROD 17-SEP-2024
DEFINITION  Mus musculus SBDS ribosome maturation factor (Sbds), mRNA.
ACCESSION   NM_023248
VERSION     NM_023248.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1562)
  AUTHORS   Sera,Y., Yamamoto,S., Mutou,A., Koba,S., Kurokawa,Y., Imanaka,T.
            and Yamaguchi,M.
  TITLE     SBDS Gene Mutation Increases ROS Production and Causes DNA Damage
            as Well as Oxidation of Mitochondrial Membranes in the Murine
            Myeloid Cell Line 32Dcl3
  JOURNAL   Biol Pharm Bull 47 (7), 1376-1382 (2024)
   PUBMED   39085077
  REMARK    GeneRIF: SBDS Gene Mutation Increases ROS Production and Causes DNA
            Damage as Well as Oxidation of Mitochondrial Membranes in the
            Murine Myeloid Cell Line 32Dcl3.
REFERENCE   2  (bases 1 to 1562)
  AUTHORS   Zha,J., Kunselman,L.K., Xie,H.M., Ennis,B., Shah,Y.B., Qin,X.,
            Fan,J.M., Babushok,D.V. and Olson,T.S.
  TITLE     Inducible Sbds deletion impairs bone marrow niche capacity to
            engraft donor bone marrow after transplantation
  JOURNAL   Blood Adv 6 (1), 108-120 (2022)
   PUBMED   34625796
  REMARK    GeneRIF: Inducible Sbds deletion impairs bone marrow niche capacity
            to engraft donor bone marrow after transplantation.
REFERENCE   3  (bases 1 to 1562)
  AUTHORS   Zambetti,N.A., Bindels,E.M., Van Strien,P.M., Valkhof,M.G.,
            Adisty,M.N., Hoogenboezem,R.M., Sanders,M.A., Rommens,J.M.,
            Touw,I.P. and Raaijmakers,M.H.
  TITLE     Deficiency of the ribosome biogenesis gene Sbds in hematopoietic
            stem and progenitor cells causes neutropenia in mice by attenuating
            lineage progression in myelocytes
  JOURNAL   Haematologica 100 (10), 1285-1293 (2015)
   PUBMED   26185170
  REMARK    GeneRIF: Deficiency of the ribosome biogenesis gene Sbds in
            hematopoietic stem and progenitor cells causes neutropenia in mice
            by attenuating lineage progression in myelocytes
REFERENCE   4  (bases 1 to 1562)
  AUTHORS   Tourlakis,M.E., Zhang,S., Ball,H.L., Gandhi,R., Liu,H., Zhong,J.,
            Yuan,J.S., Guidos,C.J., Durie,P.R. and Rommens,J.M.
  TITLE     In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type
            Specific Consequences of Translation Insufficiency
  JOURNAL   PLoS Genet 11 (6), e1005288 (2015)
   PUBMED   26057580
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1562)
  AUTHORS   Tourlakis,M.E., Zhong,J., Gandhi,R., Zhang,S., Chen,L., Durie,P.R.
            and Rommens,J.M.
  TITLE     Deficiency of Sbds in the mouse pancreas leads to features of
            Shwachman-Diamond syndrome, with loss of zymogen granules
  JOURNAL   Gastroenterology 143 (2), 481-492 (2012)
   PUBMED   22510201
  REMARK    GeneRIF: Sbds genotypes correlated with phenotypes in a mouse model
            of Shwachman-Diamond syndrome. Defects developed specifically in
            the pancreata of mice, reducing growth of mice and production of
            digestive enzymes.
REFERENCE   6  (bases 1 to 1562)
  AUTHORS   Ball,H.L., Zhang,B., Riches,J.J., Gandhi,R., Li,J., Rommens,J.M.
            and Myers,J.S.
  TITLE     Shwachman-Bodian Diamond syndrome is a multi-functional protein
            implicated in cellular stress responses
  JOURNAL   Hum Mol Genet 18 (19), 3684-3695 (2009)
   PUBMED   19602484
REFERENCE   7  (bases 1 to 1562)
  AUTHORS   Albrecht,L.A., Gorges,S.W., Styne,D.M. and Bremer,A.A.
  TITLE     Shwachman-Diamond syndrome presenting as hypoglycemia
  JOURNAL   Clin Pediatr (Phila) 48 (2), 212-214 (2009)
   PUBMED   18832544
  REMARK    GeneRIF: The majority of Shwachman-Diamond syndrome cases are
            results of mutations in SBDS gene on chromosone 7q11.
REFERENCE   8  (bases 1 to 1562)
  AUTHORS   Rawls,A.S., Gregory,A.D., Woloszynek,J.R., Liu,F. and Link,D.C.
  TITLE     Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic
            progenitors impairs their hematopoietic potential
  JOURNAL   Blood 110 (7), 2414-2422 (2007)
   PUBMED   17638857
  REMARK    GeneRIF: loss of Sbds is sufficient to induce abnormalities in
            hematopoiesis
REFERENCE   9  (bases 1 to 1562)
  AUTHORS   O'Shaughnessy,P.J., Abel,M., Charlton,H.M., Hu,B., Johnston,H. and
            Baker,P.J.
  TITLE     Altered expression of genes involved in regulation of vitamin A
            metabolism, solute transportation, and cytoskeletal function in the
            androgen-insensitive tfm mouse testis
  JOURNAL   Endocrinology 148 (6), 2914-2924 (2007)
   PUBMED   17332066
REFERENCE   10 (bases 1 to 1562)
  AUTHORS   Zhang,S., Shi,M., Hui,C.C. and Rommens,J.M.
  TITLE     Loss of the mouse ortholog of the shwachman-diamond syndrome gene
            (Sbds) results in early embryonic lethality
  JOURNAL   Mol Cell Biol 26 (17), 6656-6663 (2006)
   PUBMED   16914746
  REMARK    GeneRIF: Sbds is an essential gene for early mammalian development,
            with an expression pattern consistent with a critical role in cell
            proliferation.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BY311303.1, AK014648.1 and
            AI836084.1.
            
            On Dec 2, 2015 this sequence version replaced NM_023248.1.
            
            Summary: This gene encodes a protein that is necessary for ribosome
            function and maintaining normal levels of protein synthesis. The
            encoded protein may function to activate ribosomes for translation,
            and may be involved in cellular response to stress and DNA damage.
            Loss of this gene is embryonic lethal while deficiency of the
            encoded protein in the pancreas is associated with symptoms of
            Shwachman-Diamond syndrome. [provided by RefSeq, Dec 2015].
            
            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 :: BC003849.1, SRR1660817.258659.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849380, SAMN00849381
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            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
            1-64                BY311303.1         1-64
            65-1544             AK014648.1         2-1481
            1545-1562           AI836084.1         1-18                c
FEATURES             Location/Qualifiers
     source          1..1562
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 68.97 cM"
     gene            1..1562
                     /gene="Sbds"
                     /gene_synonym="4733401P19Rik; CGI-97; SDS"
                     /note="SBDS ribosome maturation factor"
                     /db_xref="GeneID:66711"
                     /db_xref="MGI:MGI:1913961"
     exon            1..321
                     /gene="Sbds"
                     /gene_synonym="4733401P19Rik; CGI-97; SDS"
                     /inference="alignment:Splign:2.1.0"
     CDS             194..946
                     /gene="Sbds"
                     /gene_synonym="4733401P19Rik; CGI-97; SDS"
                     /note="protein 22A3; Shwachman-Bodian-Diamond syndrome
                     homolog; shwachman-Bodian-Diamond syndrome protein
                     homolog; SBDS ribosome assembly guanine nucleotide
                     exchange factor"
                     /codon_start=1
                     /product="ribosome maturation protein SBDS"
                     /protein_id="NP_075737.1"
                     /db_xref="CCDS:CCDS19710.1"
                     /db_xref="GeneID:66711"
                     /db_xref="MGI:MGI:1913961"
                     /translation="MSIFTPTNQIRLTNVAVVRMKRGGKRFEIACYKNKVVGWRSGVE
                     KDLDEVLQTHSVFVNVSKGQVAKKEDLISAFGTDDQTEICKQILTKGEVQVSDKERHT
                     QLEQMFRDIATIVADKCVNPETKRPYTVILIERAMKDIHYSVKPNKSTKQQALEVIKQ
                     LKEKMKIERAHMRLRFILPVNEGKKLKEKLKPLMKVVESEDYSQQLEIVCLIDPGCFR
                     EIDELIKKETKGRGSLEVLSLKDVEEGDEKFE"
     exon            322..451
                     /gene="Sbds"
                     /gene_synonym="4733401P19Rik; CGI-97; SDS"
                     /inference="alignment:Splign:2.1.0"
     exon            452..652
                     /gene="Sbds"
                     /gene_synonym="4733401P19Rik; CGI-97; SDS"
                     /inference="alignment:Splign:2.1.0"
     exon            653..817
                     /gene="Sbds"
                     /gene_synonym="4733401P19Rik; CGI-97; SDS"
                     /inference="alignment:Splign:2.1.0"
     exon            818..1547
                     /gene="Sbds"
                     /gene_synonym="4733401P19Rik; CGI-97; SDS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1527..1532
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Sbds"
                     /gene_synonym="4733401P19Rik; CGI-97; SDS"
                     /note="hexamer: AATAAA"
     polyA_site      1547
                     /gene="Sbds"
                     /gene_synonym="4733401P19Rik; CGI-97; SDS"
                     /note="major polyA site"
ORIGIN      
        1 tttcttatcg gctgcctggc tagtgcgcca cttgacgcat gtgcagtagg gcaatcgggc
       61 gtgcggtagc ttcttccctg gtaggttccg gaagagccgc gcactccttg ggcgttaagg
      121 gttcgcgcgc cgcagggtcg tttcagccga gcacttggcg tcccctcgag ctcgagatct
      181 gtgaacagcc accatgtcga tcttcacccc caccaaccag atccgactga ccaatgtggc
      241 cgtggtgcgg atgaagcggg gagggaagcg cttcgaaatc gcctgctata aaaacaaggt
      301 cgtcggctgg cggagtggcg tggaaaaaga ccttgatgaa gttctgcaga cccattcagt
      361 gtttgtaaat gtttccaaag gtcaggttgc caagaaggaa gacctcatca gtgcatttgg
      421 gacagacgac cagactgaaa tctgcaagca gattttgact aaaggagaag ttcaagtgtc
      481 agataaagaa cggcacacac agctggagca gatgtttagg gatatcgcca ccattgtggc
      541 agacaagtgt gtgaacccag aaacaaagag accttacacc gttatcctca tcgagagagc
      601 catgaaggac atccactact ccgtgaaacc caacaagagc acaaagcaac aggctttgga
      661 agtgataaag cagctgaaag agaagatgaa gatagagcgg gcccacatgc gattgcgctt
      721 catcctgcca gtgaacgaag ggaagaagct gaaggagaag ctgaagccac tgatgaaggt
      781 ggtggagagt gaggactaca gccagcagct ggagatcgtg tgcctcatcg acccaggctg
      841 cttcagagaa attgatgagc taataaaaaa ggaaacgaaa ggcaggggtt ctctggaagt
      901 gctcagtctg aaggacgtgg aggaaggcga tgagaagttt gaatgacacc gcccggctcc
      961 tcaactggag cacgaccgag gacgcttgtt cctcacagca gcagctcgtt ctgtgacctg
     1021 ccaaacgccc tgctcacgcg acgtgccact ttccatcttg tgttaaacat ttacccaggt
     1081 acctgggtat ttttgttgtc aattggggtt tccagcaaaa atgaaaaata acctaaaata
     1141 cagagtccag aacagctgct cactgctgcg tctgcctttc tagttccagg ggaccagaga
     1201 cagcattggt ggataagaag gtagagttag tccatgacag atcattggag aggggtctga
     1261 ataacaaagg gggtacgcct gctggaaaga agatggggtg tttctgaata atgaagtgca
     1321 ggtatggggt gtgagcatgg agagaagagt tcctgggtcc ctcccaatag atttataatg
     1381 actagggaga atttgacttt ctaattttca accaacatgc taccaaaact gacttagatt
     1441 attcttggga aaatatatac agtcatttaa tactaattct taaaggttta taatatatgt
     1501 tagtatagtt aaaattctat gtaatcaata aaacttattt ttactaaaaa aaaaaaaaaa
     1561 aa
//
