Hmdb loader
Identification
HMDB Protein ID HMDBP08574
Secondary Accession Numbers
  • 14288
Name Ribosome maturation protein SBDS
Synonyms
  1. Shwachman-Bodian-Diamond syndrome protein
Gene Name SBDS
Protein Type Unknown
Biological Properties
General Function Involved in ribosome biogenesis
Specific 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
Pathways Not Available
Reactions Not Available
GO Classification Not Available
Cellular Location
  1. Cytoplasm
Gene Properties
Chromosome Location Chromosome:7
Locus 7q11.21
SNPs SBDS
Gene Sequence
>753 bp
ATGTCGATCTTCACCCCCACCAACCAGATCCGCCTAACCAATGTGGCCGTGGTACGGATG
AAGCGTGCCGGGAAGCGCTTCGAAATCGCCTGCTACAAAAACAAGGTCGTCGGCTGGCGG
AGGGCGTGGGAAAAAGACCTCGATGAAGTTCTGCAGACCCACTCAGTGTTTGTAAATGTT
TCTAAAGGTCAGGTTGCCAAAAAGGAAGATCTCATCAGTGCGTTTGGAACAGATGACCAA
ACTGAAATCTGTAAGCAGATTTTGGCTAAAGGAGAAGTTCAAGTTTCAGATAAAGAAAGA
CACACACAACTGGGGCAGATGTTTAGGGACATTGCAACTTTTGTGGCAGACAAATGTGTG
AATCCTGAAACAAAGGGACCATACACCGTGATCCTTATTGAGAGAGCCATGAAGGACATC
CACTATTTGGTGAAACCAAACAAGAGTACAAAACAGCAGGCTTTGGAAGTGATAAAGCAG
TTAAAAGAGAAAATGAAGATAGAACGTGCTCACATGAGGCTTCGGTTCATCCTTCCAGTC
AATGAAGGCAAGAAGCTGAAAGAAAAGCTCAAGCCACTGATCAAGGTCATAGAAAGTGAA
GATTATGGCCAACAGTTAGAAATCGTATGTCTGATTGACCCGGGCTGCTTCCGAGAAATT
GATGAGCTAATAAAAAAGGAAACTAAAGGCAAAGGTTCTTTGGAAGTACTCAATCTGAAA
GATGTAGAAGAAGGAGATGAGAAATTTGAATGA
Protein Properties
Number of Residues 250
Molecular Weight 28763.3
Theoretical pI 9.15
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>Ribosome maturation protein SBDS
MSIFTPTNQIRLTNVAVVRMKRAGKRFEIACYKNKVVGWRSGVEKDLDEVLQTHSVFVNV
SKGQVAKKEDLISAFGTDDQTEICKQILTKGEVQVSDKERHTQLEQMFRDIATIVADKCV
NPETKRPYTVILIERAMKDIHYSVKTNKSTKQQALEVIKQLKEKMKIERAHMRLRFILPV
NEGKKLKEKLKPLIKVIESEDYGQQLEIVCLIDPGCFREIDELIKKETKGKGSLEVLNLK
DVEEGDEKFE
GenBank ID Protein 4929663
UniProtKB/Swiss-Prot ID Q9Y3A5
UniProtKB/Swiss-Prot Entry Name SBDS_HUMAN
PDB IDs Not Available
GenBank Gene ID AF151855
GeneCard ID SBDS
GenAtlas ID SBDS
HGNC ID HGNC:19440
References
General References
  1. 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 TO, 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: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039 ]
  2. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  3. Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD: 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. J Proteome Res. 2007 Nov;6(11):4150-62. Epub 2007 Oct 9. [PubMed:17924679 ]
  4. Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Genome Res. 2000 May;10(5):703-13. [PubMed:10810093 ]
  5. Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM: Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003 Jan;33(1):97-101. Epub 2002 Dec 23. [PubMed:12496757 ]
  6. Savchenko A, Krogan N, Cort JR, Evdokimova E, Lew JM, Yee AA, Sanchez-Pulido L, Andrade MA, Bochkarev A, Watson JD, Kennedy MA, Greenblatt J, Hughes T, Arrowsmith CH, Rommens JM, Edwards AM: The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism. J Biol Chem. 2005 May 13;280(19):19213-20. Epub 2005 Feb 8. [PubMed:15701634 ]
  7. Hesling C, Oliveira CC, Castilho BA, Zanchin NI: The Shwachman-Bodian-Diamond syndrome associated protein interacts with HsNip7 and its down-regulation affects gene expression at the transcriptional and translational levels. Exp Cell Res. 2007 Dec 10;313(20):4180-95. Epub 2007 Jul 10. [PubMed:17643419 ]