ID   RBM28_HUMAN             Reviewed;         759 AA.
AC   Q9NW13; A4D100; Q53H65; Q96CV3;
DT   23-NOV-2004, integrated into UniProtKB/Swiss-Prot.
DT   23-JAN-2007, sequence version 3.
DT   09-FEB-2010, entry version 77.
DE   RecName: Full=RNA-binding protein 28;
DE   AltName: Full=RNA-binding motif protein 28;
GN   Name=RBM28;
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 [LARGE SCALE MRNA].
RC   TISSUE=Teratocarcinoma;
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   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Colon;
RA   Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA   Tanaka A., Yokoyama S.;
RL   Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   MEDLINE=22737999; PubMed=12853948; DOI=10.1038/nature01782;
RA   Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA   Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R.,
RA   Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E.,
RA   Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H.,
RA   Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A.,
RA   Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J.,
RA   Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A.,
RA   Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S.,
RA   Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M.,
RA   Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C.,
RA   Latreille P., Miller N., Johnson D., Murray J., Woessner J.P.,
RA   Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J.,
RA   Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L.,
RA   Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R.,
RA   Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA   Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K.,
RA   Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S.,
RA   Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M.,
RA   Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R.,
RA   Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D.,
RA   Waterston R.H., Wilson R.K.;
RT   "The DNA sequence of human chromosome 7.";
RL   Nature 424:157-164(2003).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   MEDLINE=22616434; PubMed=12690205; DOI=10.1126/science.1083423;
RA   Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA   Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA   Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA   Kanematsu E., Gentles S., Christopoulos C.C., Choufani S.,
RA   Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z.,
RA   Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C.,
RA   Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J.,
RA   Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F.,
RA   Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F.,
RA   Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H.,
RA   Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G.,
RA   Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P.,
RA   Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J.,
RA   Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F.,
RA   Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B.,
RA   Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA   Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W.,
RA   Mural R.J., Adams M.D., Tsui L.-C.;
RT   "Human chromosome 7: DNA sequence and biology.";
RL   Science 300:767-772(2003).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Skin;
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   [7]
RP   PROTEIN SEQUENCE OF 2-10; 155-162; 183-192; 197-208; 454-465; 506-515;
RP   559-571 AND 730-738, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT
RP   ALA-2, SUBCELLULAR LOCATION, AND MASS SPECTROMETRY.
RC   TISSUE=Cervix carcinoma;
RA   Bienvenut W.V.;
RL   Submitted (OCT-2004) to UniProtKB.
RN   [8]
RP   PROTEIN SEQUENCE OF 17-31; 326-335; 477-486 AND 601-610, FUNCTION,
RP   SUBCELLULAR LOCATION, AND IDENTIFICATION IN A COMPLEX WITH
RP   SPLICEOSOMAL SNRNAS U1; U2; U4; U5 AND U6.
RX   PubMed=17081119; DOI=10.1515/BC.2006.182;
RA   Damianov A., Kann M., Lane W.S., Bindereif A.;
RT   "Human RBM28 protein is a specific nucleolar component of the
RT   spliceosomal snRNPs.";
RL   Biol. Chem. 387:1455-1460(2006).
RN   [9]
RP   SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
RX   MEDLINE=22317277; PubMed=12429849; DOI=10.1091/mbc.E02-05-0271;
RA   Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C.,
RA   Greco A., Hochstrasser D.F., Diaz J.-J.;
RT   "Functional proteomic analysis of human nucleolus.";
RL   Mol. Biol. Cell 13:4100-4109(2002).
RN   [10]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-202, AND MASS
RP   SPECTROMETRY.
RX   PubMed=19007248; DOI=10.1021/ac801708p;
RA   Wang B., Malik R., Nigg E.A., Korner R.;
RT   "Evaluation of the low-specificity protease elastase for large-scale
RT   phosphoproteome analysis.";
RL   Anal. Chem. 80:9526-9533(2008).
RN   [11]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-122, AND MASS
RP   SPECTROMETRY.
RX   PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA   Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA   Elledge S.J., Gygi S.P.;
RT   "A quantitative atlas of mitotic phosphorylation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN   [12]
RP   IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
RA   Colinge J., Superti-Furga G., Bennett K.L.;
RL   Submitted (OCT-2008) to UniProtKB.
RN   [13]
RP   VARIANT ANE SYNDROME PRO-351, AND TISSUE SPECIFICITY.
RX   PubMed=18439547; DOI=10.1016/j.ajhg.2008.03.014;
RA   Nousbeck J., Spiegel R., Ishida-Yamamoto A., Indelman M.,
RA   Shani-Adir A., Adir N., Lipkin E., Bercovici S., Geiger D.,
RA   van Steensel M.A., Steijlen P.M., Bergman R., Bindereif A., Choder M.,
RA   Shalev S., Sprecher E.;
RT   "Alopecia, neurological defects, and endocrinopathy syndrome caused by
RT   decreased expression of RBM28, a nucleolar protein associated with
RT   ribosome biogenesis.";
RL   Am. J. Hum. Genet. 82:1114-1121(2008).
CC   -!- FUNCTION: Nucleolar component of the spliceosomal
CC       ribonucleoprotein complexes.
CC   -!- SUBUNIT: Interacts with U1, U2, U4, U5, and U6 spliceosomal small
CC       nuclear RNAs (snRNAs).
CC   -!- SUBCELLULAR LOCATION: Nucleus, nucleolus.
CC   -!- TISSUE SPECIFICITY: Ubiquitously expressed.
CC   -!- DISEASE: Defects in RBM28 are the cause of alopecia, neurologic
CC       defects, and endocrinopathy syndrome (ANE syndrome) [MIM:612079].
CC       Affected individuals have hair loss of variable severity, ranging
CC       from complete alopecia to near-normal scalp hair with absence of
CC       body hair. All have moderate to severe mental retardation,
CC       progressive motor deterioration and central hypogonadotropic
CC       hypogonadism with delayed or absent puberty and central adrenal
CC       insufficiency. Additional features included short stature,
CC       microcephaly, gynecomastia, pigmentary anomalies, hypodontia,
CC       kyphoscoliosis, ulnar deviation of the hands, and loss of
CC       subcutaneous fat.
CC   -!- SIMILARITY: Contains 4 RRM (RNA recognition motif) domains.
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DR   EMBL; AK001239; BAA91575.1; -; mRNA.
DR   EMBL; AK222716; BAD96436.1; -; mRNA.
DR   EMBL; AC010655; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC018635; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH236947; EAL24314.1; -; Genomic_DNA.
DR   EMBL; CH471070; EAW83643.1; -; Genomic_DNA.
DR   EMBL; BC013889; AAH13889.1; -; mRNA.
DR   IPI; IPI00304187; -.
DR   RefSeq; NP_001159607.1; -.
DR   RefSeq; NP_060547.2; -.
DR   UniGene; Hs.274263; -.
DR   SMR; Q9NW13; 5-419, 115-568.
DR   PhosphoSite; Q9NW13; -.
DR   SWISS-2DPAGE; Q9NW13; -.
DR   PeptideAtlas; Q9NW13; -.
DR   PRIDE; Q9NW13; -.
DR   Ensembl; ENST00000223073; ENSP00000223073; ENSG00000106344; Homo sapiens.
DR   GeneID; 55131; -.
DR   UCSC; uc003vmp.2; human.
DR   CTD; 55131; -.
DR   GeneCards; GC07M127737; -.
DR   H-InvDB; HIX0007049; -.
DR   HGNC; HGNC:21863; RBM28.
DR   HPA; HPA019058; -.
DR   HPA; HPA026672; -.
DR   MIM; 612074; gene.
DR   MIM; 612079; phenotype.
DR   Orphanet; 157954; ANE syndrome.
DR   PharmGKB; PA134867266; -.
DR   eggNOG; prNOG15205; -.
DR   HOGENOM; HBG713649; -.
DR   HOVERGEN; Q9NW13; -.
DR   InParanoid; Q9NW13; -.
DR   OMA; RKPDGKM; -.
DR   OrthoDB; EOG9TMTMS; -.
DR   PhylomeDB; Q9NW13; -.
DR   NextBio; 58802; -.
DR   ArrayExpress; Q9NW13; -.
DR   Bgee; Q9NW13; -.
DR   CleanEx; HS_RBM28; -.
DR   Genevestigator; Q9NW13; -.
DR   GermOnline; ENSG00000106344; Homo sapiens.
DR   GO; GO:0005730; C:nucleolus; IEA:UniProtKB-SubCell.
DR   GO; GO:0005681; C:spliceosomal complex; IEA:UniProtKB-KW.
DR   GO; GO:0000166; F:nucleotide binding; IEA:InterPro.
DR   GO; GO:0003723; F:RNA binding; IEA:UniProtKB-KW.
DR   GO; GO:0006397; P:mRNA processing; IEA:UniProtKB-KW.
DR   GO; GO:0008380; P:RNA splicing; IEA:UniProtKB-KW.
DR   InterPro; IPR012677; a_b_plait_nuc_bd.
DR   InterPro; IPR000504; RRM_RNP1.
DR   Gene3D; G3DSA:3.30.70.330; a_b_plait_nuc_bd; 4.
DR   Pfam; PF00076; RRM_1; 3.
DR   SMART; SM00360; RRM; 4.
DR   PROSITE; PS50102; RRM; 4.
PE   1: Evidence at protein level;
KW   Acetylation; Complete proteome; Direct protein sequencing;
KW   Disease mutation; Mental retardation; mRNA processing; mRNA splicing;
KW   Nucleus; Phosphoprotein; Polymorphism; Repeat; RNA-binding;
KW   Spliceosome.
FT   INIT_MET      1      1       Removed.
FT   CHAIN         2    759       RNA-binding protein 28.
FT                                /FTId=PRO_0000081785.
FT   DOMAIN        4     80       RRM 1.
FT   DOMAIN      114    191       RRM 2.
FT   DOMAIN      335    419       RRM 3.
FT   DOMAIN      487    597       RRM 4.
FT   COMPBIAS    224    258       Asp/Glu-rich (acidic).
FT   MOD_RES       2      2       N-acetylalanine.
FT   MOD_RES     122    122       Phosphoserine.
FT   MOD_RES     202    202       Phosphoserine.
FT   VARIANT     253    253       E -> Q (in dbSNP:rs11554671).
FT                                /FTId=VAR_045654.
FT   VARIANT     351    351       L -> P (in ANE syndrome).
FT                                /FTId=VAR_045655.
FT   CONFLICT     21     21       E -> G (in Ref. 2; BAD96436).
FT   CONFLICT    739    739       Q -> R (in Ref. 1; BAA91575).
SQ   SEQUENCE   759 AA;  85738 MW;  B477EDB9561D6771 CRC64;
     MAGLTLFVGR LPPSARSEQL EELFSQVGPV KQCFVVTEKG SKACRGFGYV TFSMLEDVQR
     ALKEITTFEG CKINVTVAKK KLRNKTKEKG KNENSECPKK EPKAKKAKVA DKKARLIIRN
     LSFKCSEDDL KTVFAQFGAV LEVNIPRKPD GKMRGFGFVQ FKNLLEAGKA LKGMNMKEIK
     GRTVAVDWAV AKDKYKDTQS VSAIGEEKSH ESKHQESVKK KGREEEDMEE EENDDDDDDD
     DEEDGVFDDE DEEEENIESK VTKPVQIQKR AVKRPAPAKS SDHSEEDSDL EESDSIDDGE
     ELAQSDTSTE EQEDKAVQVS NKKKRKLPSD VNEGKTVFIR NLSFDSEEEE LGELLQQFGE
     LKYVRIVLHP DTEHSKGCAF AQFMTQEAAQ KCLLAASPEN EAGGLKLDGR QLKVDLAVTR
     DEAAKLQTTK VKKPTGTRNL YLAREGLIRA GTKAAEGVSA ADMAKRERFE LLKHQKLKDQ
     NIFVSRTRLC LHNLPKAVDD KQLRKLLLSA TSGEKGVRIK ECRVMRDLKG VHGNMKGQSL
     GYAFAEFQEH EHALKALRLI NNNPEIFGPL KRPIVEFSLE DRRKLKMKEL RIQRSLQKMR
     SKPATGEPQK GQPEPAKDQQ QKAAQHHTEE QSKVPPEQKR KAGSTSWTGF QTKAEVEQVE
     LPDGKKRRKV LALPSHRGPK IRLRDKGKVK PVHPKKPKPQ INQWKQEKQQ LSSEQVSRKK
     AKGNKTETRF NQLVEQYKQK LLGPSKGAPL AKRSKWFDS
//