ID SBDS_HUMAN STANDARD; PRT; 249 AA. AC Q9Y3A5; Q96FX0; Q9NV53; DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot. DT 20-DEC-2005, sequence version 3. DT 30-MAY-2006, entry version 46. 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-7; GLY-43; GLU-66; RP SER-86; THR-125; CYS-168 AND THR-211. 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 MEDLINE=22388257; PubMed=12477932; DOI=10.1073/pnas.242603899; 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 human RT and mouse cDNA sequences."; RL Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002). RN [5] RP PROTEIN SEQUENCE OF 1-18, CLEAVAGE OF INITIATOR METHIONINE, RP ACETYLATION AT SER-1, 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 HGNC; HGNC:19440; SBDS. DR MIM; 260400; phenotype. DR MIM; 607444; gene. DR LinkHub; Q9Y3A5; -. DR InterPro; IPR002140; SBDS. DR Pfam; PF01172; SBDS; 1. DR ProDom; PD009796; UPF0023; 1. DR TIGRFAMs; TIGR00291; UPF0023; 1. DR PROSITE; PS01267; UPF0023; 1. KW Acetylation; Direct protein sequencing; Disease mutation. FT INIT_MET 0 0 FT CHAIN 1 249 Shwachman-Bodian-Diamond syndrome FT protein. FT /FTId=PRO_0000123762. FT MOD_RES 1 1 N-acetylserine. FT VARIANT 7 7 N -> K (in SDS). FT /FTId=VAR_015390. FT VARIANT 43 43 E -> G (in SDS). FT /FTId=VAR_015391. FT VARIANT 66 66 K -> E (in SDS). FT /FTId=VAR_015392. FT VARIANT 86 86 I -> S (in SDS). FT /FTId=VAR_015393. FT VARIANT 125 125 R -> T (in SDS). FT /FTId=VAR_015394. FT VARIANT 168 168 R -> C (in SDS). FT /FTId=VAR_015395. FT VARIANT 211 211 I -> T (in SDS). FT /FTId=VAR_015396. FT CONFLICT 40 42 SGV -> RAW (in Ref. 2). FT CONFLICT 88 88 T -> A (in Ref. 2). FT CONFLICT 104 104 E -> G (in Ref. 2). FT CONFLICT 113 113 I -> F (in Ref. 2). FT CONFLICT 125 125 R -> G (in Ref. 2). FT CONFLICT 142 142 S -> L (in Ref. 2). FT CONFLICT 145 145 T -> P (in Ref. 2). SQ SEQUENCE 249 AA; 28632 MW; D34E7A003C2E05A7 CRC64; SIFTPTNQIR LTNVAVVRMK RAGKRFEIAC YKNKVVGWRS GVEKDLDEVL QTHSVFVNVS KGQVAKKEDL ISAFGTDDQT EICKQILTKG EVQVSDKERH TQLEQMFRDI ATIVADKCVN PETKRPYTVI LIERAMKDIH YSVKTNKSTK QQALEVIKQL KEKMKIERAH MRLRFILPVN EGKKLKEKLK PLIKVIESED YGQQLEIVCL IDPGCFREID ELIKKETKGK GSLEVLNLKD VEEGDEKFE //