Details for: SBDS

Gene ID: 51119

Symbol: SBDS

Ensembl ID: ENSG00000126524

Description: SBDS ribosome maturation factor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 408.7557
    Cell Significance Index: -63.5800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 265.6486
    Cell Significance Index: -67.3800
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 164.3656
    Cell Significance Index: -67.7100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 157.7572
    Cell Significance Index: -64.0900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 154.7109
    Cell Significance Index: -73.0400
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 142.0336
    Cell Significance Index: -73.0600
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 110.0038
    Cell Significance Index: -73.8200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 67.2118
    Cell Significance Index: -64.1700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 56.6200
    Cell Significance Index: -69.8100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 22.9426
    Cell Significance Index: -61.4600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 18.7859
    Cell Significance Index: -74.1300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 15.7206
    Cell Significance Index: -48.2900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 9.2160
    Cell Significance Index: -20.1700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 4.1228
    Cell Significance Index: 112.2200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 3.5705
    Cell Significance Index: 102.3500
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 3.1859
    Cell Significance Index: 33.8500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 2.9245
    Cell Significance Index: 374.9000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2.5976
    Cell Significance Index: 193.6000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 2.4852
    Cell Significance Index: 116.8000
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 2.3869
    Cell Significance Index: 42.1800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 2.1211
    Cell Significance Index: 274.0300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.8056
    Cell Significance Index: 247.9600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.6534
    Cell Significance Index: 86.8100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 1.5374
    Cell Significance Index: 17.4700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.4513
    Cell Significance Index: 178.4600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.4509
    Cell Significance Index: 143.5300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.3353
    Cell Significance Index: 590.3800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.2730
    Cell Significance Index: 229.4900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.1481
    Cell Significance Index: 81.2000
  • Cell Name: theca cell (CL0000503)
    Fold Change: 1.1234
    Cell Significance Index: 6.6000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.0758
    Cell Significance Index: 50.1600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9924
    Cell Significance Index: 51.5500
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: 0.8901
    Cell Significance Index: 4.1100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8216
    Cell Significance Index: 37.2400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.8189
    Cell Significance Index: 17.1400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.7356
    Cell Significance Index: 401.7100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.7273
    Cell Significance Index: 209.2600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7009
    Cell Significance Index: 20.2000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5043
    Cell Significance Index: 101.1700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4824
    Cell Significance Index: 91.8000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.3953
    Cell Significance Index: 10.4000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3264
    Cell Significance Index: 21.0600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.3062
    Cell Significance Index: 35.0900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2707
    Cell Significance Index: 97.0900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.2467
    Cell Significance Index: 6.0200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2227
    Cell Significance Index: 38.0200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1956
    Cell Significance Index: 12.3300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1655
    Cell Significance Index: 4.4200
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.0934
    Cell Significance Index: 0.7200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0445
    Cell Significance Index: 5.2500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0409
    Cell Significance Index: 30.9700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0260
    Cell Significance Index: 19.0700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0152
    Cell Significance Index: 3.0200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0064
    Cell Significance Index: 12.1400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0057
    Cell Significance Index: -4.2500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0134
    Cell Significance Index: -0.2300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0315
    Cell Significance Index: -58.1800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0375
    Cell Significance Index: -57.7500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0463
    Cell Significance Index: -28.9100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0552
    Cell Significance Index: -75.0800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0559
    Cell Significance Index: -5.7100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0685
    Cell Significance Index: -2.3800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0740
    Cell Significance Index: -47.0200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0861
    Cell Significance Index: -48.5400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1072
    Cell Significance Index: -48.6600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1478
    Cell Significance Index: -31.1400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1848
    Cell Significance Index: -21.1000
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.3506
    Cell Significance Index: -3.6600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3581
    Cell Significance Index: -41.7300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.3611
    Cell Significance Index: -52.4900
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.4131
    Cell Significance Index: -3.4700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.4864
    Cell Significance Index: -37.3300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4869
    Cell Significance Index: -29.9300
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.5386
    Cell Significance Index: -8.0700
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.5445
    Cell Significance Index: -3.2900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.5541
    Cell Significance Index: -7.5600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.5544
    Cell Significance Index: -5.1100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5846
    Cell Significance Index: -46.3000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.5996
    Cell Significance Index: -12.9900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.6144
    Cell Significance Index: -17.1700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.6701
    Cell Significance Index: -7.2900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.6781
    Cell Significance Index: -35.3200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.6799
    Cell Significance Index: -70.7900
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.6833
    Cell Significance Index: -4.2100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.6869
    Cell Significance Index: -46.1900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.8761
    Cell Significance Index: -25.7300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.9469
    Cell Significance Index: -23.6700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -1.0411
    Cell Significance Index: -58.4200
  • Cell Name: peg cell (CL4033014)
    Fold Change: -1.0542
    Cell Significance Index: -24.3600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -1.0942
    Cell Significance Index: -44.8400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.1935
    Cell Significance Index: -73.1700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -1.1975
    Cell Significance Index: -32.0300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -1.2039
    Cell Significance Index: -60.8400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -1.2145
    Cell Significance Index: -38.9000
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -1.3627
    Cell Significance Index: -10.8800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -1.3870
    Cell Significance Index: -61.3500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.3927
    Cell Significance Index: -35.8000
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -1.4682
    Cell Significance Index: -23.6900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -1.5135
    Cell Significance Index: -38.6700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -1.5142
    Cell Significance Index: -15.6800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** SBDS is a small, 3.4-kb gene located on chromosome 11q24.2. It encodes a protein of 1,116 amino acids, which is essential for ribosome biogenesis and function. SBDS is highly expressed in hematopoietic cells, including erythroblasts, and is also present in embryonic stem cells, smooth muscle fibers, and other tissues. The protein exhibits a unique structure, consisting of a domain with a high degree of sequence conservation, which is essential for its function. **Pathways and Functions:** SBDS is involved in several cellular pathways, including: 1. **Ribosome biogenesis**: SBDS regulates the biogenesis of ribosomes, ensuring proper assembly and maturation of ribosomal subunits. 2. **Hematopoiesis**: SBDS is essential for the development and maturation of hematopoietic cells, including erythroblasts and megakaryocytes. 3. **Cell cycle regulation**: SBDS regulates the cell cycle by controlling the expression of ribosomal genes and the biogenesis of ribosomes. 4. **DNA damage response**: SBDS is involved in the response to DNA damage, regulating the expression of genes involved in DNA repair and replication. **Clinical Significance:** Dysregulation of SBDS has been implicated in various human diseases, including: 1. **Myelodysplastic syndromes**: Mutations in SBDS have been identified in patients with myelodysplastic syndromes, a group of disorders characterized by ineffective hematopoiesis. 2. **Aplastic anemia**: SBDS mutations have also been identified in patients with aplastic anemia, a condition characterized by bone marrow failure. 3. **Leukemia**: SBDS mutations have been identified in patients with acute myeloid leukemia (AML) and chronic myeloid leukemia (CML). 4. **Bone disorders**: SBDS mutations have been implicated in bone disorders, including osteoporosis and osteopetrosis. In conclusion, SBDS is a critical gene involved in ribosome maturation and cellular homeostasis. Its dysregulation has significant implications for human health, and further research is necessary to understand the mechanisms underlying SBDS-related diseases.

Genular Protein ID: 749553504

Symbol: SBDS_HUMAN

Name: Ribosome maturation protein SBDS

UniProtKB Accession Codes:

Q9Y3A5 A8K0P4 Q96FX0 Q9NV53

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 EMDB 3 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 18 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 12496757

Title: Mutations in SBDS are associated with Shwachman-Diamond syndrome.

PubMed ID: 12496757

DOI: 10.1038/ng1062

PubMed ID: 10810093

Title: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.

PubMed ID: 10810093

DOI: 10.1101/gr.10.5.703

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15860664

Title: The Shwachman-Diamond SBDS protein localizes to the nucleolus.

PubMed ID: 15860664

DOI: 10.1182/blood-2005-02-0807

PubMed ID: 17475909

Title: The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA.

PubMed ID: 17475909

DOI: 10.1182/blood-2007-02-075184

PubMed ID: 17643419

Title: The Shwachman-Bodian-Diamond syndrome associated protein interacts with HsNip7 and its down-regulation affects gene expression at the transcriptional and translational levels.

PubMed ID: 17643419

DOI: 10.1016/j.yexcr.2007.06.024

PubMed ID: 19602484

Title: Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.

PubMed ID: 19602484

DOI: 10.1093/hmg/ddp316

PubMed ID: 19759903

Title: SBDS expression and localization at the mitotic spindle in human myeloid progenitors.

PubMed ID: 19759903

DOI: 10.1371/journal.pone.0007084

PubMed ID: 20015955

Title: Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease.

PubMed ID: 20015955

DOI: 10.1093/hmg/ddp560

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25991726

Title: Defective guanine nucleotide exchange in the elongation factor-like 1 (EFL1) GTPase by mutations in the Shwachman-Diamond syndrome protein.

PubMed ID: 25991726

DOI: 10.1074/jbc.m114.626275

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 20053358

Title: Structure, dynamics, and RNA interaction analysis of the human SBDS protein.

PubMed ID: 20053358

DOI: 10.1016/j.jmb.2009.12.039

PubMed ID: 21536732

Title: Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.

PubMed ID: 21536732

DOI: 10.1101/gad.623011

PubMed ID: 26479198

Title: Mechanism of eIF6 release from the nascent 60S ribosomal subunit.

PubMed ID: 26479198

DOI: 10.1038/nsmb.3112

PubMed ID: 24898207

Title: Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.

PubMed ID: 24898207

DOI: 10.1186/1471-2350-15-64

Sequence Information:

  • Length: 250
  • Mass: 28764
  • Checksum: D35C43003C05F5A7
  • Sequence:
    • MSIFTPTNQI RLTNVAVVRM KRAGKRFEIA CYKNKVVGWR SGVEKDLDEV LQTHSVFVNV 
SKGQVAKKED LISAFGTDDQ TEICKQILTK GEVQVSDKER HTQLEQMFRD IATIVADKCV 
NPETKRPYTV ILIERAMKDI HYSVKTNKST KQQALEVIKQ LKEKMKIERA HMRLRFILPV 
NEGKKLKEKL KPLIKVIESE DYGQQLEIVC LIDPGCFREI DELIKKETKG KGSLEVLNLK 
DVEEGDEKFE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.