ID SBDS_HUMAN STANDARD; PRT; 250 AA. AC Q9Y3A5; Q96FX0; Q9NV53; DT 30-MAY-2000 (Rel. 39, Created) DT 30-MAY-2000 (Rel. 39, Last sequence update) DT 29-MAR-2004 (Rel. 43, Last annotation update) DE Shwachman-Bodian-Diamond syndrome protein (CGI-97). GN SBDS. OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP SEQUENCE FROM N.A. (ISOFORM 1), AND VARIANTS SDS LYS-8; GLY-44; RP GLU-67; SER-87; THR-126; CYS-169 AND THR-212. RX MEDLINE=22397848; PubMed=12496757; 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 SEQUENCE FROM N.A. (ISOFORM 1). RX MEDLINE=20272150; PubMed=10810093; 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 SEQUENCE FROM N.A. (ISOFORM 1). RC TISSUE=Ovarian carcinoma; RX PubMed=14702039; 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.-I., Saito K., Kawai Y., Isono Y., Nakamura Y., RA Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., RA Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., RA Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., RA Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., RA Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., RA Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., RA Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., RA Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., RA Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., RA Imose N., 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 SEQUENCE FROM N.A. (ISOFORM 2). RC TISSUE=Uterus; RX MEDLINE=22388257; PubMed=12477932; RA Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G., RA Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D., RA Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K., RA Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F., RA Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L., RA Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E., RA Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C., RA Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J., RA Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H., RA Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W., RA Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A., RA Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A., RA Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G., RA Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C., RA Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M., RA Butterfield Y.S.N., Krzywinski M.I., Skalska U., Smailus D.E., RA Schnerch A., Schein J.E., Jones S.J.M., Marra M.A.; RT "Generation and initial analysis of more than 15,000 full-length RT human and mouse cDNA sequences."; RL Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002). CC -!- FUNCTION: Might possibly play a role in RNA metabolism. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q9Y3A5-1; Sequence=Displayed; CC Name=2; CC IsoId=Q9Y3A5-2; Sequence=VSP_006717; CC Note=No experimental confirmation available; 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 --------------------------------------------------------------------------- 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; -. DR EMBL; AF151855; AAD34092.1; -. DR EMBL; AK001779; BAA91905.1; -. DR EMBL; BC010183; AAH10183.1; -. DR Genew; HGNC:19440; SBDS. DR MIM; 607444; -. DR MIM; 260400; -. DR InterPro; IPR002140; UPF0023. DR Pfam; PF01172; UPF0023; 1. DR ProDom; PD009796; UPF0023; 1. DR TIGRFAMs; TIGR00291; TIGR00291; 1. DR PROSITE; PS01267; UPF0023; 1. KW Disease mutation; Alternative splicing. FT VARSPLIC 62 250 Missing (in isoform 2). FT /FTId=VSP_006717. 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 24 24 G -> R (in Ref. 4). FT CONFLICT 33 33 K -> R (in Ref. 4). FT CONFLICT 41 43 SGV -> RAW (in Ref. 2). FT CONFLICT 43 43 V -> L (in Ref. 4). 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; 28763 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 //