ID SBDS_HUMAN Reviewed; 250 AA. AC Q9Y3A5; Q96FX0; Q9NV53; DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot. DT 23-JAN-2007, sequence version 4. DT 10-JUL-2007, entry version 58. DE Shwachman-Bodian-Diamond syndrome protein. GN Name=SBDS; ORFNames=CGI-97; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS SDS LYS-8; GLY-44; GLU-67; RP SER-87; THR-126; CYS-169 AND THR-212. RX MEDLINE=22397848; PubMed=12496757; DOI=10.1038/ng1062; RA Boocock G.R.B., Morrison J.A., Popovic M., Richards N., Ellis L., RA Durie P.R., Rommens J.M.; RT "Mutations in SBDS are associated with Shwachman-Diamond syndrome."; RL Nat. Genet. 33:97-101(2003). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RX MEDLINE=20272150; PubMed=10810093; DOI=10.1101/gr.10.5.703; RA Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.; RT "Identification of novel human genes evolutionarily conserved in RT Caenorhabditis elegans by comparative proteomics."; RL Genome Res. 10:703-713(2000). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Ovarian carcinoma; RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=PNS; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [5] RP PROTEIN SEQUENCE OF 2-19, CLEAVAGE OF INITIATOR METHIONINE, RP ACETYLATION AT SER-2, AND MASS SPECTROMETRY. RC TISSUE=Platelet; RA Bienvenut W.V., Claeys D.; RL Unpublished observations (NOV-2005). CC -!- FUNCTION: Might possibly play a role in RNA metabolism. CC -!- TISSUE SPECIFICITY: Widely expressed. CC -!- DISEASE: Defects in SBDS are the cause of Shwachman-Diamond CC syndrome (SDS) [MIM:260400]. SDS is an autosomal recessive CC disorder characterized by pancreatic exocrine insufficiency, CC hematologic dysfunction, and skeletal abnormalities. CC -!- SIMILARITY: Belongs to the UPF0023 family. CC -!- WEB RESOURCE: NAME=GeneReviews; CC URL="http://www.genetests.org/query?gene=SBDS". CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AY169963; AAN77490.1; -; mRNA. DR EMBL; AF151855; AAD34092.1; -; mRNA. DR EMBL; AK001779; BAA91905.1; -; mRNA. DR EMBL; BC065700; AAH65700.1; -; mRNA. DR UniGene; Hs.110445; -. DR Ensembl; ENSG00000126524; Homo sapiens. DR KEGG; hsa:51119; -. DR HGNC; HGNC:19440; SBDS. DR MIM; 260400; phenotype. DR MIM; 607444; gene. DR Orphanet; 811; Shwachman-diamond syndrome. DR PharmGKB; PA134978742; -. DR LinkHub; Q9Y3A5; -. DR ArrayExpress; Q9Y3A5; -. DR GermOnline; ENSG00000126524; Homo sapiens. DR RZPD-ProtExp; T0315; -. DR InterPro; IPR002140; SBDS. DR PANTHER; PTHR10927; SBDS; 1. DR Pfam; PF01172; SBDS; 1. DR ProDom; PD009796; UPF0023; 1. DR TIGRFAMs; TIGR00291; SBDS; 1. DR PROSITE; PS01267; UPF0023; 1. KW Acetylation; Direct protein sequencing; Disease mutation. FT INIT_MET 1 1 Removed. FT CHAIN 2 250 Shwachman-Bodian-Diamond syndrome FT protein. FT /FTId=PRO_0000123762. FT MOD_RES 2 2 N-acetylserine. FT VARIANT 8 8 N -> K (in SDS). FT /FTId=VAR_015390. FT VARIANT 44 44 E -> G (in SDS). FT /FTId=VAR_015391. FT VARIANT 67 67 K -> E (in SDS). FT /FTId=VAR_015392. FT VARIANT 87 87 I -> S (in SDS). FT /FTId=VAR_015393. FT VARIANT 126 126 R -> T (in SDS). FT /FTId=VAR_015394. FT VARIANT 169 169 R -> C (in SDS). FT /FTId=VAR_015395. FT VARIANT 212 212 I -> T (in SDS). FT /FTId=VAR_015396. FT CONFLICT 41 43 SGV -> RAW (in Ref. 2). FT CONFLICT 89 89 T -> A (in Ref. 2). FT CONFLICT 105 105 E -> G (in Ref. 2). FT CONFLICT 114 114 I -> F (in Ref. 2). FT CONFLICT 126 126 R -> G (in Ref. 2). FT CONFLICT 143 143 S -> L (in Ref. 2). FT CONFLICT 146 146 T -> P (in Ref. 2). SQ SEQUENCE 250 AA; 28764 MW; D35C43003C05F5A7 CRC64; MSIFTPTNQI RLTNVAVVRM KRAGKRFEIA CYKNKVVGWR SGVEKDLDEV LQTHSVFVNV SKGQVAKKED LISAFGTDDQ TEICKQILTK GEVQVSDKER HTQLEQMFRD IATIVADKCV NPETKRPYTV ILIERAMKDI HYSVKTNKST KQQALEVIKQ LKEKMKIERA HMRLRFILPV NEGKKLKEKL KPLIKVIESE DYGQQLEIVC LIDPGCFREI DELIKKETKG KGSLEVLNLK DVEEGDEKFE //