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Reviewed, UniProtKB/Swiss-Prot Q9NW13 (RBM28_HUMAN)

Last modified July 7, 2009. Version 68. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    RNA-binding protein 28
Alternative name(s):
    RNA-binding motif protein 28
Gene names
Name: RBM28
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length759 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Nucleolar component of the spliceosomal ribonucleoprotein complexes. Ref.8

Subunit structure

Interacts with U1, U2, U4, U5, and U6 spliceosomal small nuclear RNAs (snRNAs).

Subcellular location

Nucleusnucleolus. Ref.8 Ref.7 Ref.9

Tissue specificity

Ubiquitously expressed. Ref.12

Involvement in 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.

Sequence similarities

Contains 4 RRM (RNA recognition motif) domains.

Ontologies

Keywords
   Biological processmRNA processing
mRNA splicing
   Cellular componentNucleus
Spliceosome
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Mental retardation
   DomainRepeat
   LigandRNA-binding
   PTMAcetylation
Phosphoprotein
   Technical termComplete proteome
Direct protein sequencing
Gene Ontology (GO)
   Biological processRNA splicing

Inferred from electronic annotation. Source: UniProtKB-KW

mRNA processing

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentnucleolus

Inferred from electronic annotation. Source: UniProtKB-SubCell

spliceosome

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular functionRNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

nucleotide binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.7
Chain2 – 759758RNA-binding protein 28
PRO_0000081785

Regions

Domain4 – 8077RRM 1
Domain114 – 19178RRM 2
Domain335 – 41985RRM 3
Domain487 – 597111RRM 4
Compositional bias224 – 25835Asp/Glu-rich (acidic)

Amino acid modifications

Modified residue21N-acetylalanine Ref.7
Modified residue1221Phosphoserine Ref.10

Natural variations

Natural variant2531E → Q: dbSNP rs11554671.
VAR_045654
Natural variant3511L → P in ANE syndrome.
VAR_045655

Experimental info

Sequence conflict211E → G in BAD96436. Ref.2
Sequence conflict7391Q → R in BAA91575. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9NW13-1 [UniParc].

Last modified January 23, 2007. Version 3.
Checksum: B477EDB9561D6771

FASTA75985,738
        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 

« Hide

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
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. expand/collapse author list , 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.
Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Teratocarcinoma.
[2]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
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Colon.
[3]"The DNA sequence of human chromosome 7."
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. expand/collapse author list , 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.
Nature 424:157-164(2003) [PubMed: 12853948] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"Human chromosome 7: DNA sequence and biology."
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. expand/collapse author list , 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.
Science 300:767-772(2003) [PubMed: 12690205] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]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. expand/collapse author list , 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
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Skin.
[7]Bienvenut W.V.
Submitted (OCT-2004) to UniProtKB
Cited for: 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, MASS SPECTROMETRY.
Tissue: Cervix carcinoma.
[8]"Human RBM28 protein is a specific nucleolar component of the spliceosomal snRNPs."
Damianov A., Kann M., Lane W.S., Bindereif A.
Biol. Chem. 387:1455-1460(2006) [PubMed: 17081119] [Abstract]
Cited for: PROTEIN SEQUENCE OF 17-31; 326-335; 477-486 AND 601-610, FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN A COMPLEX WITH SPLICEOSOMAL SNRNAS U1; U2; U4; U5 AND U6.
[9]"Functional proteomic analysis of human nucleolus."
Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C., Greco A., Hochstrasser D.F., Diaz J.-J.
Mol. Biol. Cell 13:4100-4109(2002) [PubMed: 12429849] [Abstract]
Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[10]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-122, MASS SPECTROMETRY.
[11]Colinge J., Superti-Furga G., Bennett K.L.
Submitted (OCT-2008) to UniProtKB
Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[12]"Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis."
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.
Am. J. Hum. Genet. 82:1114-1121(2008) [PubMed: 18439547] [Abstract]
Cited for: VARIANT ANE SYNDROME PRO-351, TISSUE SPECIFICITY.

Cross-references

Sequence databases

AK001239 mRNA. Translation: BAA91575.1.
AK222716 mRNA. Translation: BAD96436.1.
AC010655 Genomic DNA. No translation available.
AC018635 Genomic DNA. No translation available.
CH236947 Genomic DNA. Translation: EAL24314.1.
CH471070 Genomic DNA. Translation: EAW83643.1.
BC013889 mRNA. Translation: AAH13889.1.
IPIIPI00304187.
RefSeqNP_060547.2.
UniGeneHs.274263

3D structure databases

HSSPHSSP built from PDB template 1UAW based on UniProtKB Q61474.
SMRQ9NW13. Positions 327-424.
ModBaseSearch...

PTM databases

PhosphoSiteQ9NW13.

2-D gel databases

SWISS-2DPAGEQ9NW13.

Proteomic databases

PeptideAtlasQ9NW13.
PRIDEQ9NW13.

Genome annotation databases

EnsemblENSG00000106344. Homo sapiens. [Contig view]
GeneID55131.
KEGGhsa:55131.
UCSCuc003vmp.2. human.

Organism-specific databases

GeneCardsGC07M127737.
H-InvDBHIX0007049.
HGNCHGNC:21863. RBM28.
MIM612074. gene.
612079. phenotype.
Orphanet157954. ANE syndrome.
PharmGKBPA134867266.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ9NW13.
HOVERGENQ9NW13.
OMAQ9NW13. LKYVRIV.

Gene expression databases

ArrayExpressQ9NW13.
BgeeQ9NW13.
CleanExHS_RBM28.
GermOnlineENSG00000106344. Homo sapiens.

Family and domain databases

InterProIPR012677. a_b_plait_nuc_bd.
IPR000504. RRM_RNP1.
[Graphical view]
Gene3DG3DSA:3.30.70.330. a_b_plait_nuc_bd. 4 hits.
PfamPF00076. RRM_1. 3 hits.
[Graphical view]
SMARTSM00360. RRM. 4 hits.
[Graphical view]
PROSITEPS50102. RRM. 4 hits.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio58802.
SOURCESearch...

Entry information

Entry nameRBM28_HUMAN
AccessionPrimary (citable) accession number: Q9NW13
Secondary accession number(s): A4D100, Q53H65, Q96CV3
Entry history
Integrated into UniProtKB/Swiss-Prot: November 23, 2004
Last sequence update: January 23, 2007
Last modified: July 7, 2009
This is version 68 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents