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SBDS SBDS, ribosome maturation factor [ Homo sapiens (human) ]

Gene ID: 51119, updated on 12-Jan-2019

Summary

Official Symbol
SBDSprovided by HGNC
Official Full Name
SBDS, ribosome maturation factorprovided by HGNC
Primary source
HGNC:HGNC:19440
See related
Ensembl:ENSG00000126524 MIM:607444
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 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]
Expression
Ubiquitous expression in heart (RPKM 89.6), fat (RPKM 75.8) and 25 other tissues See more
Orthologs

Genomic context

See SBDS in Genome Data Viewer
Location:
7q11.21
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (66987677..66995696, 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 uncharacterized LOC112268006 Neighboring gene RNA, 7SL, cytoplasmic 43, pseudogene Neighboring gene tRNA-yW synthesizing protein 1 homolog Neighboring gene microRNA 4650-1 Neighboring gene speedy/RINGO cell cycle regulator family member E21, pseudogene Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10917

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
microtubule 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 
cytosol IDA
Inferred from Direct Assay
more info
 
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 

General protein information

Preferred Names
ribosome maturation protein SBDS
Names
SBDS, ribosome assembly guanine nucleotide exchange factor

NCBI Reference Sequences (RefSeq)

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_016038.4NP_057122.2  ribosome maturation protein SBDS

    See identical proteins and their annotated locations for NP_057122.2

    Status: REVIEWED

    Source sequence(s)
    AC079920, AK289609, AY169963, DB558666
    Consensus CDS
    CCDS5537.1
    UniProtKB/Swiss-Prot
    Q9Y3A5
    UniProtKB/TrEMBL
    A0A0S2Z5I7
    Related
    ENSP00000246868.2, ENST00000246868.6
    Conserved Domains (1) summary
    cl26642
    Location:1223
    SBDS_C; SBDS protein C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    66987677..66995696 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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