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UniProtKB/Swiss-Prot entry Q9NW13


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name RBM28_HUMAN
Primary accession number Q9NW13
Secondary accession numbers A4D100 Q53H65 Q96CV3
Integrated into Swiss-Prot on November 23, 2004
Sequence was last modified on January 23, 2007 (Sequence version 3)
Annotations were last modified on    November 25, 2008 (Entry version 62)
Name and origin of the protein
Protein name RNA-binding protein 28
Synonym RNA-binding motif protein 28
Gene name
Name: RBM28
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Teratocarcinoma;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
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 T.-O., 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. 36:40-45(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Colon;
Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.;
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature01782; PubMed=12853948 [NCBI, ExPASy, EBI, Israel, Japan]
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.;
"The DNA sequence of human chromosome 7.";
Nature 424:157-164(2003).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1126/science.1083423; PubMed=12690205 [NCBI, ExPASy, EBI, Israel, Japan]
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.;
"Human chromosome 7: DNA sequence and biology.";
Science 300:767-772(2003).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Skin;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
PROTEIN SEQUENCE OF 2-10; 155-162; 183-192; 197-208; 454-465; 506-515; 559-571 AND 730-738, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, SUBCELLULAR LOCATION, AND MASS SPECTROMETRY.
TISSUE=Cervix carcinoma;
Bienvenut W.V.;
Submitted (OCT-2004) to UniProtKB.
[8]
PROTEIN SEQUENCE OF 17-31; 326-335; 477-486 AND 601-610, FUNCTION, SUBCELLULAR LOCATION, AND IDENTIFICATION IN A COMPLEX WITH SPLICEOSOMAL SNRNAS U1; U2; U4; U5 AND U6.
DOI=10.1515/BC.2006.182; PubMed=17081119 [NCBI, ExPASy, EBI, Israel, Japan]
Damianov A., Kann M., Lane W.S., Bindereif A.;
"Human RBM28 protein is a specific nucleolar component of the spliceosomal snRNPs.";
Biol. Chem. 387:1455-1460(2006).
[9]
SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
DOI=10.1091/mbc.E02-05-0271; PubMed=12429849 [NCBI, ExPASy, EBI, Israel, Japan]
Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C., Greco A., Hochstrasser D.F., Diaz J.-J.;
"Functional proteomic analysis of human nucleolus.";
Mol. Biol. Cell 13:4100-4109(2002).
[10]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-122, AND MASS SPECTROMETRY.
DOI=10.1073/pnas.0805139105; PubMed=18669648 [NCBI, ExPASy, EBI, Israel, Japan]
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
[11]
VARIANT ANE SYNDROME PRO-351, AND TISSUE SPECIFICITY.
DOI=10.1016/j.ajhg.2008.03.014; PubMed=18439547 [NCBI, ExPASy, EBI, Israel, Japan]
Nousbeck J., Spiegel R., Ishida-Yamamoto A., Indelman M., Shani-Adir A., Adir N., Lipkin E., Bercovici S., Geiger D., van Steensel M.A., Steijlen P.M., Bergman R., Bindereif A., Choder M., Shalev S., Sprecher E.;
"Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.";
Am. J. Hum. Genet. 82:1114-1121(2008).
Comments
  • FUNCTION: Nucleolar component of the spliceosomal ribonucleoprotein complexes.
  • SUBUNIT: Interacts with U1, U2, U4, U5, and U6 spliceosomal small nuclear RNAs (snRNAs).
  • SUBCELLULAR LOCATION: Nucleus, nucleolus.
  • TISSUE SPECIFICITY: Ubiquitously expressed.
  • DISEASE: Defects in RBM28 are the cause of alopecia, neurologic defects, and endocrinopathy syndrome (ANE syndrome) [MIM:612079]. Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe mental retardation, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat.
  • SIMILARITY: Contains 4 RRM (RNA recognition motif) domains.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AK001239; BAA91575.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK222716; BAD96436.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AC010655; -; NOT_ANNOTATED_CDS; Genomic_DNA.[EMBL / GenBank / DDBJ]
AC018635; -; NOT_ANNOTATED_CDS; Genomic_DNA.[EMBL / GenBank / DDBJ]
CH236947; EAL24314.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
CH471070; EAW83643.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC013889; AAH13889.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_060547.2; -.
UniGene Hs.274263
3D structure databases
HSSP Q61474; 1UAW. [HSSP ENTRY / PDB]
SMR Q9NW13; 327-424.
ModBase Q9NW13.
PTM databases
PhosphoSite Q9NW13; -.
2D gel databases
SWISS-2DPAGE Q9NW13; -.
Organism-specific databases
H-InvDB HIX0007049; -.
HGNC HGNC:21863; RBM28.
GenAtlas RBM28.
MIM 612074; gene. [NCBI / EBI]
612079; phenotype. [NCBI / EBI]
Orphanet 157954; ANE syndrome.
PharmGKB PA134867266; -.
GeneCards Q9NW13.
Gene expression databases
ArrayExpress Q9NW13; -.
CleanEx HS_RBM28; -.
GermOnline ENSG00000106344; Homo sapiens.
Ontologies
GO
GO:0005681; Cellular component: spliceosome (inferred from electronic annotation from UniProtKB-KW).
GO:0000166; Molecular function: nucleotide binding (inferred from electronic annotation from InterPro).
GO:0003723; Molecular function: RNA binding (inferred from electronic annotation from UniProtKB-KW).
GO:0006397; Biological process: mRNA processing (inferred from electronic annotation from UniProtKB-KW).
GO:0008380; Biological process: RNA splicing (inferred from electronic annotation from UniProtKB-KW).
QuickGo view.
Family and domain databases
InterPro IPR012677; a_b_plait_nuc_bd.
IPR000504; RRM_RNP1.
Graphical view of domain structure.
Gene3D G3DSA:3.30.70.330; a_b_plait_nuc_bd; 4.
Pfam PF00076; RRM_1; 3.
Pfam graphical view of domain structure.
SMART SM00360; RRM; 4.
SMART graphical view of domain structure.
PROSITE PS50102; RRM; 4.
PROSITE graphical view of domain structure (profiles).
ProtoNet Q9NW13.
Proteomic databases
PeptideAtlas Q9NW13; -.
Genome annotation databases
Ensembl ENSG00000106344; Homo sapiens. [Contig view]
GeneID 55131; -.
KEGG hsa:55131; -.
Phylogenomic databases
HOGENOM Q9NW13; -.
HOVERGEN Q9NW13; -.
Other
NextBio 58802; -.
SOURCE RBM28; Homo sapiens.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Acetylation; Direct protein sequencing; Disease mutation; Mental retardation; mRNA processing; mRNA splicing; Nucleus; Phosphoprotein; Polymorphism; Repeat; RNA-binding; Spliceosome.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
INIT_MET   1     1        Removed. 
CHAIN   2   759  758     RNA-binding protein 28. PRO_0000081785
DOMAIN   4    80  77     RRM 1. 
DOMAIN   114   191  78     RRM 2. 
DOMAIN   335   419  85     RRM 3. 
DOMAIN   487   597  111     RRM 4. 
COMPBIAS   224   258  35     Asp/Glu-rich (acidic). 
MOD_RES   2     2        N-acetylalanine. 
MOD_RES   122   122        Phosphoserine. 
VARIANT   253   253  1     E -> Q (in dbSNP:rs11554671 [NCBI]). VAR_045654 
VARIANT   351   351  1     L -> P (in ANE syndrome). VAR_045655 
CONFLICT   21    21        E -> G (in Ref. 2; BAD96436). 
CONFLICT   739   739        Q -> R (in Ref. 1; BAA91575). 
Sequence information
Length: 759 AA [This is the length of the unprocessed precursor] Molecular weight: 85738 Da [This is the MW of the unprocessed precursor] CRC64: B477EDB9561D6771 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MAGLTLFVGR LPPSARSEQL EELFSQVGPV KQCFVVTEKG SKACRGFGYV TFSMLEDVQR 

        70         80         90        100        110        120 
ALKEITTFEG CKINVTVAKK KLRNKTKEKG KNENSECPKK EPKAKKAKVA DKKARLIIRN 

       130        140        150        160        170        180 
LSFKCSEDDL KTVFAQFGAV LEVNIPRKPD GKMRGFGFVQ FKNLLEAGKA LKGMNMKEIK 

       190        200        210        220        230        240 
GRTVAVDWAV AKDKYKDTQS VSAIGEEKSH ESKHQESVKK KGREEEDMEE EENDDDDDDD 

       250        260        270        280        290        300 
DEEDGVFDDE DEEEENIESK VTKPVQIQKR AVKRPAPAKS SDHSEEDSDL EESDSIDDGE 

       310        320        330        340        350        360 
ELAQSDTSTE EQEDKAVQVS NKKKRKLPSD VNEGKTVFIR NLSFDSEEEE LGELLQQFGE 

       370        380        390        400        410        420 
LKYVRIVLHP DTEHSKGCAF AQFMTQEAAQ KCLLAASPEN EAGGLKLDGR QLKVDLAVTR 

       430        440        450        460        470        480 
DEAAKLQTTK VKKPTGTRNL YLAREGLIRA GTKAAEGVSA ADMAKRERFE LLKHQKLKDQ 

       490        500        510        520        530        540 
NIFVSRTRLC LHNLPKAVDD KQLRKLLLSA TSGEKGVRIK ECRVMRDLKG VHGNMKGQSL 

       550        560        570        580        590        600 
GYAFAEFQEH EHALKALRLI NNNPEIFGPL KRPIVEFSLE DRRKLKMKEL RIQRSLQKMR 

       610        620        630        640        650        660 
SKPATGEPQK GQPEPAKDQQ QKAAQHHTEE QSKVPPEQKR KAGSTSWTGF QTKAEVEQVE 

       670        680        690        700        710        720 
LPDGKKRRKV LALPSHRGPK IRLRDKGKVK PVHPKKPKPQ INQWKQEKQQ LSSEQVSRKK 

       730        740        750 
AKGNKTETRF NQLVEQYKQK LLGPSKGAPL AKRSKWFDS 

Q9NW13 in FASTA format

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