Shwachman-Bodian-Diamond Syndrome Proteine (SBDS)

Shwachman-Bodian-Diamond Syndrome Proteine (SBDS)
Auf finden Sie aktuell 17 Shwachman-Bodian-Diamond Syndrome (SBDS) Proteine von 9 unterschiedlichen Herstellern. Zusätzlich bieten wir Ihnen Shwachman-Bodian-Diamond Syndrome Antikörper (48) und Shwachman-Bodian-Diamond Syndrome Kits (5) und viele weitere Produktgruppen zu diesem Protein an. Insgesamt sind aktuell 74 Shwachman-Bodian-Diamond Syndrome Produkte verfügbar.
4733401P19Rik, AI836084, CGI-97, SDS, SWDS, zgc:56700
alle Proteine anzeigen Gen GeneID UniProt
SBDS 51119 Q9Y3A5
SBDS 288615 Q5RK30
SBDS 66711 P70122

Weitere Synonyme anzeigen

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Am meisten referenzierte Shwachman-Bodian-Diamond Syndrome Proteine

  1. Human SBDS Protein expressed in Escherichia coli (E. coli) - ABIN2181723 : Austin, Leary, Shimamura: The Shwachman-Diamond SBDS protein localizes to the nucleolus. in Blood 2005 (PubMed)
    Zeige alle 3 Referenzen für 2181723

  2. Human SBDS Protein expressed in Escherichia coli (E. coli) - ABIN667248 : Toiviainen-Salo, Savilahti, Mäkitie, Mäkitie: [Shwachman-Diamond syndrome--a diagnostic challenge]. in Duodecim; lääketieteellinen aikakauskirja 2010 (PubMed)
    Zeige alle 2 Referenzen für 667248

Weitere Proteine zu Shwachman-Bodian-Diamond Syndrome Interaktionspartnern

Zebrafish Shwachman-Bodian-Diamond Syndrome (SBDS) Interaktionspartner

  1. Knockdown of the zebrafish sbds ortholog fully recapitulates the spectrum of developmental abnormalities observed in the human Shwachman-Bodian-Diamond syndrome.

  2. The sbds gene function is essential for normal pancreas and myeloid development in zebrafish. Zebrafish is a model system to study sbds gene function and for evaluation of novel therapies for Shwachman-Diamond syndrome.

Human Shwachman-Bodian-Diamond Syndrome (SBDS) Interaktionspartner

  1. SBDS function is specifically required for efficient translation re-initiation into the protein isoforms C/EBPalpha (zeige CEBPA Proteine)-p30 (zeige CENPV Proteine) and C/EBPbeta (zeige CEBPB Proteine)-LIP, which is controlled by a single cis (zeige CISH Proteine)-regulatory upstream open reading frame (uORF) in the 5' untranslated regions (5' UTRs) of both mRNAs.

  2. Association of EFL1 (zeige EFNA1 Proteine) to SBDS did not modify the affinity for GTP (zeige AK3 Proteine) but dramatically decreased that for GDP by increasing the dissociation rate of the nucleotide.

  3. The clinical diagnosis was confirmed by detection of compound heterozygous mutations in SBDS using whole-exome sequencing: a recurrent intronic mutation causing aberrant splicing (c.258+2T>C) and a novel missense variant in a highly conserved codon (c.41A>G, p.Asn14Ser), considered to be damaging for the protein structure by in silico prediction programs

  4. Upon EFL1 (zeige EFNA1 Proteine) binding, SBDS is repositioned around helix 69, thus facilitating a conformational switch in EFL1 (zeige EFNA1 Proteine) that displaces eIF6 (zeige EIF6 Proteine) by competing for an overlapping binding site on the 60S ribosomal subunit.

  5. Genetic variations in exon 2 of SBDS gene do not appear to be contributing to aplastic anemia in the north Indian population.

  6. The interaction between EFL1 (zeige EFNA1 Proteine) and SBDS was analyzed by size exclusion chromatography, gel shift assay, and isothermal titration calorimetry. The results showed that EFL1 (zeige EFNA1 Proteine) interacted directly with SBDS.

  7. SBDS protein acts as a nucleotide exchange factor that stabilizes binding to GTP (zeige AK3 Proteine) for human GTPase (zeige RACGAP1 Proteine).

  8. Lack of mutation in exon 2 of sbds protein in acute myeloid leukemia (zeige BCL11A Proteine) suggests this subset is unlikely to have underlying sds (zeige SDS Proteine)

  9. We conclude that knockdown of SBDS leads to growth inhibition and defects in ribosome maturation

  10. SBDS protein facilitates the release of eIF6 (zeige EIF6 Proteine), a factor that prevents ribosome joining.

Mouse (Murine) Shwachman-Bodian-Diamond Syndrome (SBDS) Interaktionspartner

  1. Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes

  2. Sbds genotypes correlated with phenotypes in a mouse model of Shwachman-Diamond syndrome. Defects developed specifically in the pancreata of mice, reducing growth of mice and production of digestive enzymes.

  3. Sbds is required for osteoclastogenesis by regulating monocyte migration via Rac2 (zeige RAC2 Proteine) and osteoclast differentiation signaling downstream of RANK.

  4. Sbds is an essential gene for early mammalian development, with an expression pattern consistent with a critical role in cell proliferation.

  5. loss of Sbds is sufficient to induce abnormalities in hematopoiesis

  6. The majority of Shwachman-Diamond syndrome cases are results of mutations in SBDS gene on chromosone 7q11.

Shwachman-Bodian-Diamond Syndrome (SBDS) Protein Überblick

Protein Überblick

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.

Alternative names and synonyms associated with Shwachman-Bodian-Diamond Syndrome (SBDS)

  • Shwachman-Bodian-Diamond syndrome (sbds)
  • shwachman-Bodian-Diamond syndrome (LOAG_04440)
  • Shwachman-Bodian-Diamond syndrome (SBDS)
  • Shwachman-Bodian-Diamond syndrome (Sbds)
  • Shwachman-Bodian-Diamond syndrome homolog (human) (Sbds)
  • 4733401P19Rik Protein
  • AI836084 Protein
  • CGI-97 Protein
  • SDS Protein
  • SWDS Protein
  • zgc:56700 Protein

Bezeichner auf Proteinebene für SBDS

ribosome maturation protein SBDS , shwachman-Bodian-Diamond syndrome protein homolog , shwachman-Bodian-Diamond syndrome , Shwachman-Bodian-Diamond syndrome homolog , protein 22A3

448365 Xenopus (Silurana) tropicalis
9941848 Loa loa
394096 Danio rerio
100049749 Xenopus laevis
417477 Gallus gallus
51119 Homo sapiens
607017 Canis lupus familiaris
513237 Bos taurus
288615 Rattus norvegicus
100172536 Pongo abelii
66711 Mus musculus
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