Reviewed, UniProtKB/Swiss-Prot Q9Y3A5 (SBDS_HUMAN)

Names and origin

Protein names

Recommended name:
    Ribosome maturation protein SBDS
Alternative name(s):
    Shwachman-Bodian-Diamond syndrome protein

Gene names

Name:	SBDS
ORF Names:	CGI-97

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

Keywords
Biological process	Ribosome biogenesis
Cellular component	Cytoplasm
Disease	Disease mutation
PTM	Acetylation Phosphoprotein
Technical term	Direct protein sequencing
Gene Ontology (GO)
Biological process	bone marrow development Inferred from mutant phenotype. Source: UniProtKB bone mineralization Inferred from mutant phenotype. Source: UniProtKB inner cell mass cell proliferation Inferred from sequence or structural similarity. Source: UniProtKB learning Inferred from mutant phenotype. Source: UniProtKB leukocyte chemotaxis Inferred from direct assay. Source: UniProtKB mitotic spindle stabilization Inferred from direct assay. Source: UniProtKB rRNA processing Ref.8 Inferred from mutant phenotype. Source: UniProtKB
Cellular component	cytoplasm Inferred from direct assay. Source: UniProtKB nucleolus Inferred from direct assay. Source: UniProtKB spindle pole Inferred from direct assay. Source: UniProtKB
Molecular function	microtubule binding Inferred from direct assay. Source: UniProtKB rRNA binding Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

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

	Sequence		Length	Mass (Da)
	Q9Y3A5-1 [UniParc]. Last modified January 23, 2007. Version 4. Checksum: D35C43003C05F5A7	FASTA	250	28,764
	10 20 30 40 50 60 MSIFTPTNQI RLTNVAVVRM KRAGKRFEIA CYKNKVVGWR SGVEKDLDEV LQTHSVFVNV 70 80 90 100 110 120 SKGQVAKKED LISAFGTDDQ TEICKQILTK GEVQVSDKER HTQLEQMFRD IATIVADKCV 130 140 150 160 170 180 NPETKRPYTV ILIERAMKDI HYSVKTNKST KQQALEVIKQ LKEKMKIERA HMRLRFILPV 190 200 210 220 230 240 NEGKKLKEKL KPLIKVIESE DYGQQLEIVC LIDPGCFREI DELIKKETKG KGSLEVLNLK 250 DVEEGDEKFE

References

	« Hide 'large scale' referencesShow '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. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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.

Web resources

SBDSbase

SBDS mutation db

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	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

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	January 23, 2007
Last modified:	November 4, 2008
This is version 69 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)