RBCC Red Blood Cell Collection

SBDS_HUMAN

Source: PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: SBDS , CGI-97
Protein names and data: SBDS_HUMAN , Ribosome maturation protein SBDS , Shwachman-Bodian-Diamond syndrome protein Lenght: 250 a.a.
Mass: 28764 Da
fasta formatted sequence
Function: Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFTUD1, triggers the GTP- dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell proliferation.
Disease: ( OMIM: 260400 607444 ) Shwachman-Diamond syndrome (SDS) [MIM:260400]: Autosomal recessive disorder characterized by pancreatic exocrine insufficiency, hematologic dysfunction, and skeletal abnormalities. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Nucleus, nucleolus. Nucleus, nucleoplasm. Cytoplasm, cytoskeleton, spindle. Note=Primarily detected in the cytoplasm, and at low levels in nucleus and nucleolus (PubMed:19602484 and PubMed:17475909). Detected in the nucleolus during G1 and G2 phase of the cell cycle, and diffusely distributed in the nucleus during S phase. Detected at the mitotic spindle. Colocalizes with the microtubule organizing center during interphase (PubMed:19759903).
Tissue specificity: Widely expressed.

Genetic variants

8 - 8 N -> K (in SDS; dbSNP:rs28942099). VAR_015390 28942099
44 - 44 E -> G (in SDS). VAR_015391
67 - 67 K -> E (in SDS). VAR_015392
87 - 87 I -> S (in SDS). VAR_015393
126 - 126 R -> T (in SDS; strongly reduced release of EIF6 from pre-60S ribosome subunits). VAR_015394
169 - 169 R -> C (in SDS). VAR_015395
212 - 212 I -> T (in SDS; dbSNP:rs79344818). VAR_015396 79344818

Database cross-references

UniProt: Q9Y3A5
Ensembl: ENST00000246868
MIM: 260400
MIM: 607444
neXtProt: NX_Q9Y3A5
Antibodypedia: Q9Y3A5 (may not find the protein thus also not any antibody)
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