LOCUS       NM_016038               1613 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens SBDS ribosome maturation factor (SBDS), mRNA.
ACCESSION   NM_016038
VERSION     NM_016038.4
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 1613)
  AUTHORS   Khoroshkin,M., Buyan,A., Dodel,M., Navickas,A., Yu,J., Trejo,F.,
            Doty,A., Baratam,R., Zhou,S., Lee,S.B., Joshi,T., Garcia,K.,
            Choi,B., Miglani,S., Subramanyam,V., Modi,H., Carpenter,C.,
            Markett,D., Corces,M.R., Mardakheh,F.K., Kulakovskiy,I.V. and
            Goodarzi,H.
  TITLE     Systematic identification of post-transcriptional regulatory
            modules
  JOURNAL   Nat Commun 15 (1), 7872 (2024)
   PUBMED   39251607
  REMARK    Erratum:[Nat Commun. 2024 Oct 28;15(1):9277. doi:
            10.1038/s41467-024-52903-4.. PMID: 39468017]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1613)
  AUTHORS   Yamaguchi,M., Sera,Y., Toga-Yamaguchi,H., Kanegane,H., Iguchi,Y.
            and Fujimura,K.
  TITLE     Knockdown of the Shwachman-Diamond syndrome gene, SBDS, induces
            galectin-1 expression and impairs cell growth
  JOURNAL   Int J Hematol 119 (4), 383-391 (2024)
   PUBMED   38240987
  REMARK    GeneRIF: Knockdown of the Shwachman-Diamond syndrome gene, SBDS,
            induces galectin-1 expression and impairs cell growth.
REFERENCE   3  (bases 1 to 1613)
  AUTHORS   Sera,Y., Imanaka,T. and Yamaguchi,M.
  TITLE     M phase-specific interaction between SBDS and RNF2 at the mitotic
            spindles regulates mitotic progression
  JOURNAL   Biochem Biophys Res Commun 682, 118-123 (2023)
   PUBMED   37806249
  REMARK    GeneRIF: M phase-specific interaction between SBDS and RNF2 at the
            mitotic spindles regulates mitotic progression.
REFERENCE   4  (bases 1 to 1613)
  AUTHORS   Jain,D., Malik,A.A., Kumar,A., Malik,B.K. and Raina,V.
  TITLE     Variations in exon-2 of SBDS gene and its association with aplastic
            anemia
  JOURNAL   Int J Lab Hematol 36 (6), e88-e90 (2014)
   PUBMED   24636098
  REMARK    GeneRIF: Genetic variations in exon 2 of SBDS gene do not appear to
            be contributing to aplastic anemia in the north Indian population.
REFERENCE   5  (bases 1 to 1613)
  AUTHORS   Nakashima,E., Mabuchi,A., Makita,Y., Masuno,M., Ohashi,H.,
            Nishimura,G. and Ikegawa,S.
  TITLE     Novel SBDS mutations caused by gene conversion in Japanese patients
            with Shwachman-Diamond syndrome
  JOURNAL   Hum Genet 114 (4), 345-348 (2004)
   PUBMED   14749921
  REMARK    GeneRIF: gene conversion mutations in SBDS are common to different
            ethnic groups, but they are not confined to a limited region of the
            gene
REFERENCE   6  (bases 1 to 1613)
  AUTHORS   Stepanovic,V., Wessels,D., Goldman,F.D., Geiger,J. and Soll,D.R.
  TITLE     The chemotaxis defect of Shwachman-Diamond Syndrome leukocytes
  JOURNAL   Cell Motil Cytoskeleton 57 (3), 158-174 (2004)
   PUBMED   14743349
REFERENCE   7  (bases 1 to 1613)
  AUTHORS   Boocock,G.R., Morrison,J.A., Popovic,M., Richards,N., Ellis,L.,
            Durie,P.R. and Rommens,J.M.
  TITLE     Mutations in SBDS are associated with Shwachman-Diamond syndrome
  JOURNAL   Nat Genet 33 (1), 97-101 (2003)
   PUBMED   12496757
  REMARK    GeneRIF: Mutations in SBDS are associated with Shwachman-Diamond
            syndrome
            GeneRIF: Mutations in SBDS are associated with Shwachman-Diamond
            syndrome.
REFERENCE   8  (bases 1 to 1613)
  AUTHORS   Popovic,M., Goobie,S., Morrison,J., Ellis,L., Ehtesham,N.,
            Richards,N., Boocock,G., Durie,P.R. and Rommens,J.M.
  TITLE     Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11,
            identification of shared disease haplotypes, and exclusion of TPST1
            as a candidate gene
  JOURNAL   Eur J Hum Genet 10 (4), 250-258 (2002)
   PUBMED   12032733
REFERENCE   9  (bases 1 to 1613)
  AUTHORS   Shelton,C., LaRusch,J. and Whitcomb,D.C.
  TITLE     Pancreatitis Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24624459
REFERENCE   10 (bases 1 to 1613)
  AUTHORS   Nelson,A. and Myers,K.
  TITLE     Shwachman-Diamond Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301722
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK289609.1, AY169963.1,
            AC079920.6 and DB558666.1.
            
            On Nov 23, 2018 this sequence version replaced NM_016038.3.
            
            Summary: This gene encodes a highly conserved protein that plays an
            essential role in ribosome biogenesis. The encoded protein
            interacts with elongation factor-like GTPase 1 to disassociate
            eukaryotic initiation factor 6 from the late cytoplasmic pre-60S
            ribosomal subunit allowing assembly of the 80S subunit. Mutations
            within this gene are associated with the autosomal recessive
            disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely
            linked pseudogene that is distally located. [provided by RefSeq,
            Jan 2017].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR5189652.125831.1,
                                           SRR3476690.331574.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000246868.7/ ENSP00000246868.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1042              AK289609.1         21-1062
            1043-1590           AY169963.1         1058-1605
            1591-1612           AC079920.6         51239-51260         c
            1613-1613           DB558666.1         333-333
FEATURES             Location/Qualifiers
     source          1..1613
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.21"
     gene            1..1613
                     /gene="SBDS"
                     /gene_synonym="CGI-97; SDO1; SDS; SWDS"
                     /note="SBDS ribosome maturation factor"
                     /db_xref="GeneID:51119"
                     /db_xref="HGNC:HGNC:19440"
                     /db_xref="MIM:607444"
     exon            1..297
                     /gene="SBDS"
                     /gene_synonym="CGI-97; SDO1; SDS; SWDS"
                     /inference="alignment:Splign:2.1.0"
     CDS             170..922
                     /gene="SBDS"
                     /gene_synonym="CGI-97; SDO1; SDS; SWDS"
                     /note="SBDS, ribosome assembly guanine nucleotide exchange
                     factor"
                     /codon_start=1
                     /product="ribosome maturation protein SBDS"
                     /protein_id="NP_057122.2"
                     /db_xref="CCDS:CCDS5537.1"
                     /db_xref="GeneID:51119"
                     /db_xref="HGNC:HGNC:19440"
                     /db_xref="MIM:607444"
                     /translation="MSIFTPTNQIRLTNVAVVRMKRAGKRFEIACYKNKVVGWRSGVE
                     KDLDEVLQTHSVFVNVSKGQVAKKEDLISAFGTDDQTEICKQILTKGEVQVSDKERHT
                     QLEQMFRDIATIVADKCVNPETKRPYTVILIERAMKDIHYSVKTNKSTKQQALEVIKQ
                     LKEKMKIERAHMRLRFILPVNEGKKLKEKLKPLIKVIESEDYGQQLEIVCLIDPGCFR
                     EIDELIKKETKGKGSLEVLNLKDVEEGDEKFE"
     exon            298..427
                     /gene="SBDS"
                     /gene_synonym="CGI-97; SDO1; SDS; SWDS"
                     /inference="alignment:Splign:2.1.0"
     exon            428..628
                     /gene="SBDS"
                     /gene_synonym="CGI-97; SDO1; SDS; SWDS"
                     /inference="alignment:Splign:2.1.0"
     exon            629..793
                     /gene="SBDS"
                     /gene_synonym="CGI-97; SDO1; SDS; SWDS"
                     /inference="alignment:Splign:2.1.0"
     exon            794..1613
                     /gene="SBDS"
                     /gene_synonym="CGI-97; SDO1; SDS; SWDS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1567..1572
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SBDS"
                     /gene_synonym="CGI-97; SDO1; SDS; SWDS"
                     /note="hexamer: AATAAA"
     regulatory      1588..1593
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SBDS"
                     /gene_synonym="CGI-97; SDO1; SDS; SWDS"
                     /note="hexamer: ATTAAA"
     polyA_site      1593
                     /gene="SBDS"
                     /gene_synonym="CGI-97; SDO1; SDS; SWDS"
                     /note="major polyA site"
     polyA_site      1613
                     /gene="SBDS"
                     /gene_synonym="CGI-97; SDO1; SDS; SWDS"
ORIGIN      
        1 agacacactg tgacggctgc ctgaagctag tgagtcgcgg cgccgcgcac tggtggttgg
       61 gtcagtgccg cgcgccgatc ggtcgttacc gcgaggcgct ggtggccttc aggctggacg
      121 gcgcgggtca gccctggttc gccggcttct gggtctttga acagccgcga tgtcgatctt
      181 cacccccacc aaccagatcc gcctaaccaa tgtggccgtg gtacggatga agcgtgccgg
      241 gaagcgcttc gaaatcgcct gctacaaaaa caaggtcgtc ggctggcgga gcggcgtgga
      301 aaaagacctc gatgaagttc tgcagaccca ctcagtgttt gtaaatgttt ctaaaggtca
      361 ggttgccaaa aaggaagatc tcatcagtgc gtttggaaca gatgaccaaa ctgaaatctg
      421 taagcagatt ttgactaaag gagaagttca agtatcagat aaagaaagac acacacaact
      481 ggagcagatg tttagggaca ttgcaactat tgtggcagac aaatgtgtga atcctgaaac
      541 aaagagacca tacaccgtga tccttattga gagagccatg aaggacatcc actattcggt
      601 gaaaaccaac aagagtacaa aacagcaggc tttggaagtg ataaagcagt taaaagagaa
      661 aatgaagata gaacgtgctc acatgaggct tcggttcatc cttccagtca atgaaggcaa
      721 gaagctgaaa gaaaagctca agccactgat caaggtcata gaaagtgaag attatggcca
      781 acagttagaa atcgtatgtc tgattgaccc gggctgcttc cgagaaattg atgagctaat
      841 aaaaaaggaa actaaaggca aaggttcttt ggaagtactc aatctgaaag atgtagaaga
      901 aggagatgag aaatttgaat gacacccatc aatctcttca cctctaaaac actaaagtgt
      961 ttccgtttcc gacggcactg tttcatgtct gtggtctgcc aaatacttgc ttaaactatt
     1021 tgacattttc tatctttgtg ttaacagtgg acacagcaag gctttcctac ataagtataa
     1081 taatgtggga atgatttggt tttaattata aactggggtc taaatcctaa agcaaaattg
     1141 aaactccaag atgcaaagtc cagagtggca ttttgctact ctgtctcatg ccttgatagc
     1201 tttccaaaat gaaagttact tgaggcagct cttgtgggtg aaaagttatt tgtacagtag
     1261 agtaagatta ttaggggtat gtctatacaa caaaaggggg ggtctttcct aaaaaagaaa
     1321 acatatgatg cttcatttct acttaatgga acttgtgttc tgagggtcat tatggtatcg
     1381 taatgtaaag cttggatgat gttcctgatt atctgagaaa cagatataga aaaattgtgc
     1441 cggacttacc tttcattgaa catgctgcca taacttagat tattcttggt taaaaaataa
     1501 aagtcactta tttctaattc ttaaagttta taatatatat taatatagct aaaattgtat
     1561 gtaatcaata aaaccactct tatgtttatt aaactatggc ttgtgtttct aga
//
