Seroatlas · Human Serome Atlas

SBDS

Ribosome maturation protein SBDS

Also known as: CGI-97, FLJ10917, SBDS_HUMAN, SDO1, SDS, SWDS

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9Y3A5
Gene
SBDS
Ensembl
ENSG00000126524
Chromosome
7
Canonical length
250 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol,Acrosome

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

250 residues, UniProt reviewed canonical sequence.

>Q9Y3A5|SBDS
     1  MSIFTPTNQI RLTNVAVVRM KRAGKRFEIA CYKNKVVGWR SGVEKDLDEV LQTHSVFVNV
    61  SKGQVAKKED LISAFGTDDQ TEICKQILTK GEVQVSDKER HTQLEQMFRD IATIVADKCV
   121  NPETKRPYTV ILIERAMKDI HYSVKTNKST KQQALEVIKQ LKEKMKIERA HMRLRFILPV
   181  NEGKKLKEKL KPLIKVIESE DYGQQLEIVC LIDPGCFREI DELIKKETKG KGSLEVLNLK
   241  DVEEGDEKFE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SBDS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.35
Highest tissue expression
359 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 359 nTPM
  • blood vessel: 300 nTPM
  • tongue: 267 nTPM
  • heart muscle: 232 nTPM
  • spinal cord: 216 nTPM
  • midbrain: 155 nTPM

Single-cell type

  • late spermatids: 2,814 nCPM
  • esophageal apical cells: 766 nCPM
  • early spermatids: 699 nCPM
  • syncytiotrophoblasts: 480 nCPM
  • smooth muscle cells: 463 nCPM
  • megakaryocytes: 371 nCPM

Immune cell

  • naive CD4 T-cell: 75 nTPM
  • MAIT T-cell: 62 nTPM
  • naive CD8 T-cell: 61 nTPM
  • memory CD4 T-cell: 61 nTPM
  • memory CD8 T-cell: 56 nTPM
  • T-reg: 56 nTPM

Brain region

  • white matter: 126 nTPM
  • medulla oblongata: 117 nTPM
  • spinal cord: 112 nTPM
  • hypothalamus: 106 nTPM
  • cerebellum: 104 nTPM
  • basal ganglia: 100 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SBDS.

Disease | AllUniProt

Conditions SBDS is implicated in, by any mechanism.

Disease | GeneticClinVar

49 pathogenic / likely-pathogenic of 389 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.23
gnomAD pLI
0
gnomAD missense Z
0.59
DepMap mean gene effect
-1.76
DepMap dependency class
pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Ribosome maturation protein Sdo1/SBDS
  • Ribosome maturation protein SBDS, conserved site
  • Ribosome maturation protein SDO1/SBDS, central domain
  • Ribosome maturation protein SDO1/SBDS, N-terminal
  • Ribosome maturation protein SBDS, N-terminal domain superfamily
  • Ribosome maturation protein Sdo1/SBDS, central domain superfamily
  • Ribosome maturation protein Sdo1/SBDS-like
  • Ribosome maturation protein SDO1/SBDS, C-terminal domain
  • Shwachman-Bodian-Diamond syndrome (SBDS) N-terminal domain
  • SBDS protein, domain II
  • SBDS protein, C-terminal domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SBDS in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SBDS as an antibody target. Whether an autoantibody or antibody against SBDS could matter depends on whether native SBDS is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SBDS is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SBDS as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SBDS. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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