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    SBDS SBDS ribosome assembly guanine nucleotide exchange factor [ Homo sapiens (human) ]

    Gene ID: 51119, updated on 3-Jul-2016
    Official Symbol
    SBDSprovided by HGNC
    Official Full Name
    SBDS ribosome assembly guanine nucleotide exchange factorprovided by HGNC
    Primary source
    HGNC:HGNC:19440
    See related
    Ensembl:ENSG00000126524 HPRD:07393; MIM:607444; Vega:OTTHUMG00000023165
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SDS; SWDS; CGI-97
    Summary
    This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    7q11.21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (66987703..66995601, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (66452690..66460588, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene transmembrane protein 248 Neighboring gene RNA, 7SL, cytoplasmic 43, pseudogene Neighboring gene tRNA-yW synthesizing protein 1 homolog Neighboring gene uncharacterized LOC107986807 Neighboring gene microRNA 4650-1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Ribosome biogenesis in eukaryotes, organism-specific biosystem (from KEGG)
      Ribosome biogenesis in eukaryotes, organism-specific biosystemRibosomes are the cellular factories responsible for making proteins. In eukaryotes, ribosome biogenesis involves the production and correct assembly of four rRNAs and about 80 ribosomal proteins. It...
    • Ribosome biogenesis in eukaryotes, conserved biosystem (from KEGG)
      Ribosome biogenesis in eukaryotes, conserved biosystemRibosomes are the cellular factories responsible for making proteins. In eukaryotes, ribosome biogenesis involves the production and correct assembly of four rRNAs and about 80 ribosomal proteins. It...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ10917

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    poly(A) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    rRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ribosome binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    bone marrow development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    inner cell mass cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    leukocyte chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mature ribosome assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitotic spindle organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    rRNA processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    ribosome maturation protein SBDS
    Names
    Shwachman-Bodian-Diamond syndrome

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007277.1 RefSeqGene

      Range
      5001..12899
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_104

    mRNA and Protein(s)

    1. NM_016038.2NP_057122.2  ribosome maturation protein SBDS

      See identical proteins and their annotated locations for NP_057122.2

      Status: REVIEWED

      Source sequence(s)
      AY169963
      Consensus CDS
      CCDS5537.1
      UniProtKB/Swiss-Prot
      Q9Y3A5
      UniProtKB/TrEMBL
      A0A0S2Z5I7
      Related
      ENSP00000246868, OTTHUMP00000159953, ENST00000246868, OTTHUMT00000251746
      Conserved Domains (3) summary
      COG1500
      Location:9241
      Sdo1; Ribosome maturation protein Sdo1 [Translation, ribosomal structure and biogenesis]
      pfam01172
      Location:13103
      SBDS; Shwachman-Bodian-Diamond syndrome (SBDS) protein
      pfam09377
      Location:106227
      SBDS_C; SBDS protein C-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      66987703..66995601 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      66547913..66555811 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)