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Sbds Gene Detail
Summary
  • Symbol
    Sbds
  • Name
    SBDS ribosome maturation factor
  • Synonyms
    4733401P19Rik, Shwachman-Bodian-Diamond syndrome homolog (human)
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913961
    NCBI Gene: 66711
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:130274573-130284371 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 68.97 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    366 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913961
 protein coding gene Chr5:130274572-130284371 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030144
 protein coding gene Chr5:134368316-134385410 (-)
A/J MGP_AJ_G0030112
 protein coding gene Chr5:128703378-128711565 (-)
AKR/J MGP_AKRJ_G0030045
 protein coding gene Chr5:132878612-132892929 (-)
BALB/cJ MGP_BALBcJ_G0030122
 protein coding gene Chr5:130060447-130068517 (-)
C3H/HeJ MGP_C3HHeJ_G0029838
 protein coding gene Chr5:133447730-133458213 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030575
 protein coding gene Chr5:139516855-139526342 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027800
 protein coding gene Chr5:123081777-123090668 (-)
CAST/EiJ MGP_CASTEiJ_G0029248
 protein coding gene Chr5:132767368-132778794 (-)
CBA/J MGP_CBAJ_G0029808
 protein coding gene Chr5:144949254-144961775 (-)
DBA/2J MGP_DBA2J_G0029959
 protein coding gene Chr5:128667866-128677850 (-)
FVB/NJ MGP_FVBNJ_G0029914
 protein coding gene Chr5:127760266-127770684 (-)
LP/J MGP_LPJ_G0030047
 protein coding gene Chr5:134884348-134894977 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029946
 protein coding gene Chr5:148285482-148296281 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030615
 protein coding gene Chr5:132578662-132589146 (-)
PWK/PhJ MGP_PWKPhJ_G0028962
 protein coding gene Chr5:127608540-127619025 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028798
 protein coding gene Chr5:130157539-130165395 (-)
WSB/EiJ MGP_WSBEiJ_G0029321
 protein coding gene Chr5:133289766-133301914 (-)



Homology
more
  • Human Ortholog
    SBDS, SBDS ribosome maturation factor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SBDS, SBDS ribosome maturation factor
  • Synonyms
    CGI-97, SDO1, SDS, SWDS
  • Links
    NCBI Gene ID: 51119
    neXtProt AC: NX_Q9Y3A5
    UniProt: Q9Y3A5

  • Chr Location
    7q11.21; chr7:66987680-66995693 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Sbds mouse models; 2 with human SBDS associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    34 phenotypes from 7 alleles in 7 genetic backgrounds
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele display embryonic lethality before somite formation and failure of gastrulation. Heterozygotes for the same allele are viable and fertile with no signs of Shwachman-Diamond syndrome related abnormalities.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    32
  • GO References
    5
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    770
  • Tissues
    30
  • cDNA Data
    89
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 66711 NCBI Gene Model | MGI Sequence Detail 9799 C57BL/6J ±  kb
    transcript NM_023248 RefSeq | MGI Sequence Detail 1562 C57BL/6  
    polypeptide P70122 UniProt | EBI | MGI Sequence Detail 250 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000014472 ribosome maturation protein SBDS
      (term hierarchy)
    • InterPro Domains
      IPR018023 Ribosome maturation protein SBDS, conserved site
      IPR036786 Ribosome maturation protein SBDS, N-terminal domain superfamily
      IPR002140 Ribosome maturation protein Sdo1/SBDS
      IPR018978 Ribosome maturation protein SDO1/SBDS, central domain
      IPR037188 Ribosome maturation protein Sdo1/SBDS, central domain superfamily
      IPR046928 Ribosome maturation protein SDO1/SBDS, C-terminal domain
      IPR039100 Ribosome maturation protein Sdo1/SBDS-like
      IPR019783 Ribosome maturation protein SDO1/SBDS, N-terminal
    Molecular
    Reagents
    less
    • All nucleic 93
      cDNA 90
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2140971
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 3
      Diseases 3
      Gene Ontology 5
      Phenotypes 19
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:335832 Peters MJ, et al., Targeting a Putative Intronic Splicing Silencer Salvages Expression from the Recurrent SBDS C.258+2T>C Mutant Allele in Shwachman-Diamond Syndrome Patient Cells and Mouse Model. Blood. 2022;140(Suppl 1):29442945
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    11/05/2024
    MGI 6.24     		The Jackson Laboratory