Q9NW13 (RBM28_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
RNA-binding protein 28

Alternative name(s):
RNA-binding motif protein 28

Gene names

Name:

RBM28

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	759 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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). Ref.8
Subcellular location	Nucleus › nucleolus Ref.7 Ref.8 Ref.9.
Tissue specificity	Ubiquitously expressed. Ref.12
Involvement in disease	Alopecia, neurologic defects, and endocrinopathy syndrome (ANES) [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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12
Sequence similarities	Contains 4 RRM (RNA recognition motif) domains.

Ontologies

Keywords
Biological process	mRNA processing mRNA splicing
Cellular component	Nucleus Spliceosome
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Mental retardation
Domain	Repeat
Ligand	RNA-binding
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	RNA splicing Inferred from electronic annotation. Source: UniProtKB-KW mRNA processing Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	Golgi apparatus Inferred from direct assay. Source: HPA nucleolus Inferred from direct assay. Source: HPA spliceosomal complex Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	RNA binding Inferred from electronic annotation. Source: UniProtKB-KW nucleotide binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NW13-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9NW13-2)

The sequence of this isoform differs from the canonical sequence as follows:
     39-179: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.7
	Chain	2 – 759	758	RNA-binding protein 28		PRO_0000081785
Regions
	Domain	4 – 80	77	RRM 1
	Domain	114 – 191	78	RRM 2
	Domain	335 – 419	85	RRM 3
	Domain	487 – 597	111	RRM 4
	Compositional bias	224 – 258	35	Asp/Glu-rich (acidic)
Amino acid modifications
	Modified residue	2	1	N-acetylalanine Ref.7
	Modified residue	122	1	Phosphoserine Ref.10
Natural variations
	Alternative sequence	39 – 179	141	Missing in isoform 2.		VSP_046111
	Natural variant	253	1	E → Q. Corresponds to variant rs11554671 [ dbSNP | Ensembl ].		VAR_045654
	Natural variant	351	1	L → P in ANES. Ref.12		VAR_045655
Experimental info
	Sequence conflict	21	1	E → G in BAD96436. Ref.2
	Sequence conflict	361	1	L → P in BAG62214. Ref.1
	Sequence conflict	668	1	R → K in BAG62214. Ref.1
	Sequence conflict	739	1	Q → R in BAA91575. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 23, 2007. Version 3. Checksum: B477EDB9561D6771	FASTA	759	85,738
	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
	Isoform 2 [UniParc]. Checksum: 324AB7A8031B9838	FASTA	618	69,923
	10 20 30 40 50 60 MAGLTLFVGR LPPSARSEQL EELFSQVGPV KQCFVVTEKG RTVAVDWAVA KDKYKDTQSV 70 80 90 100 110 120 SAIGEEKSHE SKHQESVKKK GREEEDMEEE ENDDDDDDDD EEDGVFDDED EEEENIESKV 130 140 150 160 170 180 TKPVQIQKRA VKRPAPAKSS DHSEEDSDLE ESDSIDDGEE LAQSDTSTEE QEDKAVQVSN 190 200 210 220 230 240 KKKRKLPSDV NEGKTVFIRN LSFDSEEEEL GELLQQFGEL KYVRIVLHPD TEHSKGCAFA 250 260 270 280 290 300 QFMTQEAAQK CLLAASPENE AGGLKLDGRQ LKVDLAVTRD EAAKLQTTKV KKPTGTRNLY 310 320 330 340 350 360 LAREGLIRAG TKAAEGVSAA DMAKRERFEL LKHQKLKDQN IFVSRTRLCL HNLPKAVDDK 370 380 390 400 410 420 QLRKLLLSAT SGEKGVRIKE CRVMRDLKGV HGNMKGQSLG YAFAEFQEHE HALKALRLIN 430 440 450 460 470 480 NNPEIFGPLK RPIVEFSLED RRKLKMKELR IQRSLQKMRS KPATGEPQKG QPEPAKDQQQ 490 500 510 520 530 540 KAAQHHTEEQ SKVPPEQKRK AGSTSWTGFQ TKAEVEQVEL PDGKKRRKVL ALPSHRGPKI 550 560 570 580 590 600 RLRDKGKVKP VHPKKPKPQI NQWKQEKQQL SSEQVSRKKA KGNKTETRFN QLVEQYKQKL 610 LGPSKGAPLA KRSKWFDS

References

	« Hide 'large scale' referencesShow '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. , 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Prostate and 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] (ISOFORM 1). 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. , 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] [Europe PMC] [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. , 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] [Europe PMC] [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. , 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). 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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[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] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-122, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[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] [Europe PMC] [Abstract] Cited for: VARIANT ANES PRO-351, TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK001239 mRNA. Translation: BAA91575.1. AK300500 mRNA. Translation: BAG62214.1. 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.
IPI	IPI00304187. IPI00909372.
RefSeq	NP_001159607.1. NM_001166135.1. NP_060547.2. NM_018077.2.
UniGene	Hs.274263.
3D structure databases
ProteinModelPortal	Q9NW13.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NW13. 4 interactions.
STRING	9606.ENSP00000223073.
PTM databases
PhosphoSite	Q9NW13.
Polymorphism databases
DMDM	55976611.
2D gel databases
SWISS-2DPAGE	Q9NW13.
Proteomic databases
PaxDb	Q9NW13.
PeptideAtlas	Q9NW13.
PRIDE	Q9NW13.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000223073; ENSP00000223073; ENSG00000106344. ENST00000415472; ENSP00000390517; ENSG00000106344.
GeneID	55131.
KEGG	hsa:55131.
UCSC	uc003vmp.2. human.
Organism-specific databases
CTD	55131.
GeneCards	GC07M127951.
HGNC	HGNC:21863. RBM28.
HPA	HPA019058. HPA026672.
MIM	612074. gene. 612079. phenotype.
neXtProt	NX_Q9NW13.
Orphanet	157954. ANE syndrome.
PharmGKB	PA134867266.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0724.
HOGENOM	HOG000124666.
HOVERGEN	HBG073213.
InParanoid	Q9NW13.
KO	K14573.
OMA	MRSKPAT.
OrthoDB	EOG4SN1NH.
PhylomeDB	Q9NW13.
Gene expression databases
ArrayExpress	Q9NW13.
Bgee	Q9NW13.
CleanEx	HS_RBM28.
Genevestigator	Q9NW13.
GermOnline	ENSG00000106344. Homo sapiens.
Family and domain databases
Gene3D	3.30.70.330. 4 hits.
InterPro	IPR012677. Nucleotide-bd_a/b_plait. IPR000504. RRM_dom. [Graphical view]
Pfam	PF00076. RRM_1. 3 hits. [Graphical view]
SMART	SM00360. RRM. 2 hits. [Graphical view]
PROSITE	PS50102. RRM. 4 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	RBM28. human.
GenomeRNAi	55131.
NextBio	58802.
SOURCE	Search...

Entry information

Entry name

RBM28_HUMAN

Accession

Primary (citable) accession number: Q9NW13
Secondary accession number(s): A4D100 , B4DU52, E9PDD9, Q53H65, Q96CV3

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 23, 2004
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 104 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.