SBDS
entrez
51119
canonical
uniprot
Q9Y3A5
canonical
ensembl
ENSG00000126524
resolver
ensp
ENSP00000246868
resolver
ensp
ENSP00000513469
resolver
ensp
ENSP00000560876
resolver
enst
ENST00000246868
resolver
enst
ENST00000697897
resolver
enst
ENST00000890817
resolver
genesymbol
SBDS
resolver
hgnc
HGNC:19440
resolver
uniprot
A0A0S2Z5I7
resolver
uniprot
A8K0P4
resolver
uniprot
Q96FX0
resolver
uniprot
Q9NV53
resolver
uniprot_entry
A0A0S2Z5I7_HUMAN
resolver
uniprot_entry
SBDS_HUMAN
resolver
uniprot_sec
A8K0P4
resolver
uniprot_sec
Q96FX0
resolver
uniprot_sec
Q9NV53
resolver
amino_acid_sequence
MSIFTPTNQIRLTNVAVVRMKRAGKRFEIACYKNKVVGWRSGVEKDLDEVLQTHSVFVNVSKGQVAKKEDLISAFGTDDQTEICKQILTKGEVQVSDKERHTQLEQMFRDIATIVADKCVNPETKRPYTVILIERAMKDIHYSVKTNKSTKQQALEVIKQLKEKMKIERAHMRLRFILPVNEGKKLKEKLKPLIKVIESEDYGQQLEIVCLIDPGCFREIDELIKKETKGKGSLEVLNLKDVEEGDEKFE
uniprot
proteins
disease_involvement
DISEASE: Shwachman-Diamond syndrome 1 (SDS1) [MIM:260400]: A form of Shwachman-Diamond syndrome, a disorder characterized by hematopoietic abnormalities, exocrine pancreatic dysfunction, and skeletal dysplasia. Intermittent or chronic neutropenia is the most common hematological manifestation, followed by anemia and thrombocytopenia. Some patients progress to bone marrow failure, myelodysplastic syndrome and malignant transformation, with acute myelogenous leukemia being the most common. Exocrine pancreatic dysfunction is generally the first presenting symptom in infancy. Short stature and metaphyseal dysplasia are the most frequent skeletal manifestations. SDS1 inheritance is autosomal recessive. {ECO:0000269|PubMed:12496757, ECO:0000269|PubMed:21536732, ECO:0000269|PubMed:24898207}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, 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. {ECO:0000269|PubMed:17643419, ECO:0000269|PubMed:19602484, ECO:0000269|PubMed:19759903, ECO:0000269|PubMed:21536732}.
uniprot
proteins
mass_dalton
28764
uniprot
proteins
mutagenesis
MUTAGEN 151; /note="K->N: Strongly reduced release of EIF6 from pre-60S ribosome subunits."; /evidence="ECO:0000269|PubMed:21536732
uniprot
proteins
protein_family
SDO1/SBDS family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
12496757
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15860664
uniprot
proteins
pubmed
17475909
uniprot
proteins
pubmed
17643419
uniprot
proteins
pubmed
19602484
uniprot
proteins
pubmed
19759903
uniprot
proteins
pubmed
20015955
uniprot
proteins
pubmed
20053358
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21536732
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24898207
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
25991726
uniprot
proteins
pubmed
26479198
uniprot
proteins
sequence_length
250
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. Nucleus, nucleoplasm. Cytoplasm, cytoskeleton, spindle. Note=Primarily detected in the cytoplasm, and at low levels in nucleus and nucleolus (PubMed:17475909, PubMed:19602484). 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). {ECO:0000269|PubMed:19759903}.
uniprot
proteins