Reviewed,
UniProtKB/Swiss-Prot Q9Y3A5 (SBDS_HUMAN)
Last modified
November 4, 2008.
Version 69.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Ribosome maturation protein SBDS Alternative name(s): Shwachman-Bodian-Diamond syndrome protein | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 250 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | May be involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. May trigger 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 By similarity. |
| Subunit structure | Associates with the 60S ribosomal subunit By similarity. May interact with NIP7. |
| Subcellular location | CytoplasmBy similarity. |
| Tissue specificity | Widely expressed. |
| Involvement in disease | Defects in SBDS are the cause of Shwachman-Diamond syndrome (SDS) [MIM:260400]. SDS is an autosomal recessive disorder characterized by pancreatic exocrine insufficiency, hematologic dysfunction, and skeletal abnormalities. |
| Sequence similarities | Belongs to the SDO1/SBDS family. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed | ||||||
| Chain | 2 – 250 | 249 | Ribosome maturation protein SBDS | PRO_0000123762 | |||||
Amino acid modifications | |||||||||
| Modified residue | 2 | 1 | N-acetylserine | ||||||
| Modified residue | 124 | 1 | Phosphothreonine | ||||||
| Modified residue | 128 | 1 | Phosphotyrosine | ||||||
Natural variations | |||||||||
| Natural variant | 8 | 1 | N → K in SDS. | VAR_015390 | |||||
| Natural variant | 44 | 1 | E → G in SDS. | VAR_015391 | |||||
| Natural variant | 67 | 1 | K → E in SDS. | VAR_015392 | |||||
| Natural variant | 87 | 1 | I → S in SDS. | VAR_015393 | |||||
| Natural variant | 126 | 1 | R → T in SDS. | VAR_015394 | |||||
| Natural variant | 169 | 1 | R → C in SDS. | VAR_015395 | |||||
| Natural variant | 212 | 1 | I → T in SDS. | VAR_015396 | |||||
Experimental info | |||||||||
| Sequence conflict | 41 – 43 | 3 | SGV → RAW in AAD34092. Ref.2 | ||||||
| Sequence conflict | 89 | 1 | T → A in AAD34092. Ref.2 | ||||||
| Sequence conflict | 105 | 1 | E → G in AAD34092. Ref.2 | ||||||
| Sequence conflict | 114 | 1 | I → F in AAD34092. Ref.2 | ||||||
| Sequence conflict | 126 | 1 | R → G in AAD34092. Ref.2 | ||||||
| Sequence conflict | 143 | 1 | S → L in AAD34092. Ref.2 | ||||||
| Sequence conflict | 146 | 1 | T → P in AAD34092. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Mutations in SBDS are associated with Shwachman-Diamond syndrome." Boocock G.R.B., Morrison J.A., Popovic M., Richards N., Ellis L., Durie P.R., Rommens J.M. Nat. Genet. 33:97-101(2003) [PubMed: 12496757] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS SDS LYS-8; GLY-44; GLU-67; SER-87; THR-126; CYS-169 AND THR-212. |
| [2] | "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics." Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C. Genome Res. 10:703-713(2000) [PubMed: 10810093] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Ovarian carcinoma. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: PNS. |
| [5] | Bienvenut W.V., Claeys D. Submitted (NOV-2005) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-19, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT SER-2, MASS SPECTROMETRY. Tissue: Platelet. |
| [6] | "The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism." Savchenko A., Krogan N., Cort J.R., Evdokimova E., Lew J.M., Yee A.A., Sanchez-Pulido L., Andrade M.A., Bochkarev A., Watson J.D., Kennedy M.A., Greenblatt J., Hughes T., Arrowsmith C.H., Rommens J.M., Edwards A.M. J. Biol. Chem. 280:19213-19220(2005) [PubMed: 15701634] [Abstract] Cited for: FUNCTION. |
| [7] | "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-124 AND TYR-128, MASS SPECTROMETRY. Tissue: Epithelium. |
| [8] | "The Shwachman-Bodian-Diamond syndrome associated protein interacts with HsNip7 and its down-regulation affects gene expression at the transcriptional and translational levels." Hesling C., Oliveira C.C., Castilho B.A., Zanchin N.I. Exp. Cell Res. 313:4180-4195(2007) [PubMed: 17643419] [Abstract] Cited for: FUNCTION, INTERACTION WITH NIP7. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AY169963 mRNA. Translation: AAN77490.1. AF151855 mRNA. Translation: AAD34092.1. AK001779 mRNA. Translation: BAA91905.1. BC065700 mRNA. Translation: AAH65700.1. | |
| RefSeq | NP_057122.2. |
| UniGene | Hs.110445 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9Y3A5. |
Proteomic databases | |
| PeptideAtlas | Q9Y3A5. |
Genome annotation databases | |
| Ensembl | ENSG00000126524. Homo sapiens. [Contig view] |
| GeneID | 51119. |
| KEGG | hsa:51119. |
Organism-specific databases | |
| HGNC | HGNC:19440. SBDS. |
| MIM | 260400. phenotype. 607444. gene. |
| Orphanet | 88. Aplastic anaemia. 811. Shwachman-diamond syndrome. |
| PharmGKB | PA134978742. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | Q9Y3A5. |
| HOVERGEN | Q9Y3A5. |
Gene expression databases | |
| ArrayExpress | Q9Y3A5. |
| CleanEx | HS_SBDS. |
| GermOnline | ENSG00000126524. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002140. SBDS_related. [Graphical view] |
| PANTHER | PTHR10927. SBDS. 1 hit. |
| Pfam | PF01172. SBDS. 1 hit. [Graphical view] |
| ProDom | PD009796. UPF0023. 1 hit. [Graphical view] [Entries sharing at least one domain] |
| TIGRFAMs | TIGR00291. SBDS. 1 hit. |
| PROSITE | PS01267. UPF0023. 1 hit. [Graphical view] |
| BLOCKS | Search... |
| ProtoNet | Search... |
Other Resources | |
| LinkHub | Q9Y3A5. |
| NextBio | 53897. |
| SOURCE | Search... |
Entry information
| Entry name | SBDS_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y3A5 Secondary accession number(s): Q96FX0, Q9NV53 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 7 Human chromosome 7: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| UniProtKB secondary accession numbers Index of UniProtKB secondary accession numbers |
| SIMILARITY comments Index of protein domains and families |

Clusters with


