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Protein

RNA-binding protein 28

Gene

RBM28

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Nucleolar component of the spliceosomal ribonucleoprotein complexes.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionRNA-binding
Biological processmRNA processing, mRNA splicing

Enzyme and pathway databases

ReactomeiR-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol

Names & Taxonomyi

Protein namesi
Recommended name:
RNA-binding protein 28
Alternative name(s):
RNA-binding motif protein 28
Gene namesi
Name:RBM28
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000106344.8
HGNCiHGNC:21863 RBM28
MIMi612074 gene
neXtProtiNX_Q9NW13

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus, Spliceosome

Pathology & Biotechi

Involvement in diseasei

Alopecia, neurologic defects, and endocrinopathy syndrome (ANES)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAffected 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.
See also OMIM:612079
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_045655351L → P in ANES. 1 PublicationCorresponds to variant dbSNP:rs118204055EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi55131
MalaCardsiRBM28
MIMi612079 phenotype
OpenTargetsiENSG00000106344
Orphaneti157954 ANE syndrome
PharmGKBiPA134867266

Polymorphism and mutation databases

BioMutaiRBM28
DMDMi55976611

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00000817852 – 759RNA-binding protein 28Add BLAST758

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanine1 Publication1
Modified residuei122PhosphoserineCombined sources1
Modified residuei397PhosphoserineCombined sources1
Cross-linki653Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9NW13
MaxQBiQ9NW13
PaxDbiQ9NW13
PeptideAtlasiQ9NW13
PRIDEiQ9NW13
ProteomicsDBi82886

2D gel databases

SWISS-2DPAGEiQ9NW13

PTM databases

iPTMnetiQ9NW13
PhosphoSitePlusiQ9NW13
SwissPalmiQ9NW13

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000106344 Expressed in 224 organ(s), highest expression level in corpus callosum
CleanExiHS_RBM28
ExpressionAtlasiQ9NW13 baseline and differential
GenevisibleiQ9NW13 HS

Organism-specific databases

HPAiHPA019058
HPA026672
HPA031519

Interactioni

Subunit structurei

Interacts with U1, U2, U4, U5, and U6 spliceosomal small nuclear RNAs (snRNAs).1 Publication

Protein-protein interaction databases

BioGridi120437, 105 interactors
CORUMiQ9NW13
IntActiQ9NW13, 34 interactors
MINTiQ9NW13
STRINGi9606.ENSP00000223073

Structurei

3D structure databases

ProteinModelPortaliQ9NW13
SMRiQ9NW13
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini4 – 80RRM 1PROSITE-ProRule annotationAdd BLAST77
Domaini114 – 191RRM 2PROSITE-ProRule annotationAdd BLAST78
Domaini335 – 419RRM 3PROSITE-ProRule annotationAdd BLAST85
Domaini487 – 597RRM 4PROSITE-ProRule annotationAdd BLAST111

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi224 – 258Asp/Glu-rich (acidic)Add BLAST35

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0127 Eukaryota
ENOG410XSHP LUCA
GeneTreeiENSGT00550000074976
HOGENOMiHOG000124666
HOVERGENiHBG073213
InParanoidiQ9NW13
KOiK14573
OMAiVGCAFVQ
OrthoDBiEOG091G0JKS
PhylomeDBiQ9NW13
TreeFamiTF312798

Family and domain databases

Gene3Di3.30.70.330, 4 hits
InterProiView protein in InterPro
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
PfamiView protein in Pfam
PF00076 RRM_1, 3 hits
SMARTiView protein in SMART
SM00360 RRM, 4 hits
SUPFAMiSSF54928 SSF54928, 4 hits
PROSITEiView protein in PROSITE
PS50102 RRM, 4 hits

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NW13-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MAGLTLFVGR LPPSARSEQL EELFSQVGPV KQCFVVTEKG SKACRGFGYV
60 70 80 90 100
TFSMLEDVQR ALKEITTFEG CKINVTVAKK KLRNKTKEKG KNENSECPKK
110 120 130 140 150
EPKAKKAKVA DKKARLIIRN LSFKCSEDDL KTVFAQFGAV LEVNIPRKPD
160 170 180 190 200
GKMRGFGFVQ FKNLLEAGKA LKGMNMKEIK GRTVAVDWAV AKDKYKDTQS
210 220 230 240 250
VSAIGEEKSH ESKHQESVKK KGREEEDMEE EENDDDDDDD DEEDGVFDDE
260 270 280 290 300
DEEEENIESK VTKPVQIQKR AVKRPAPAKS SDHSEEDSDL EESDSIDDGE
310 320 330 340 350
ELAQSDTSTE EQEDKAVQVS NKKKRKLPSD VNEGKTVFIR NLSFDSEEEE
360 370 380 390 400
LGELLQQFGE LKYVRIVLHP DTEHSKGCAF AQFMTQEAAQ KCLLAASPEN
410 420 430 440 450
EAGGLKLDGR QLKVDLAVTR DEAAKLQTTK VKKPTGTRNL YLAREGLIRA
460 470 480 490 500
GTKAAEGVSA ADMAKRERFE LLKHQKLKDQ NIFVSRTRLC LHNLPKAVDD
510 520 530 540 550
KQLRKLLLSA TSGEKGVRIK ECRVMRDLKG VHGNMKGQSL GYAFAEFQEH
560 570 580 590 600
EHALKALRLI NNNPEIFGPL KRPIVEFSLE DRRKLKMKEL RIQRSLQKMR
610 620 630 640 650
SKPATGEPQK GQPEPAKDQQ QKAAQHHTEE QSKVPPEQKR KAGSTSWTGF
660 670 680 690 700
QTKAEVEQVE LPDGKKRRKV LALPSHRGPK IRLRDKGKVK PVHPKKPKPQ
710 720 730 740 750
INQWKQEKQQ LSSEQVSRKK AKGNKTETRF NQLVEQYKQK LLGPSKGAPL

AKRSKWFDS
Length:759
Mass (Da):85,738
Last modified:January 23, 2007 - v3
Checksum:iB477EDB9561D6771
GO
Isoform 2 (identifier: Q9NW13-2) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:618
Mass (Da):69,923
Checksum:i324AB7A8031B9838
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JAA9C9JAA9_HUMAN
RNA-binding protein 28
RBM28
283Annotation score:
H7C5G8H7C5G8_HUMAN
RNA-binding protein 28
RBM28
186Annotation score:
C9JE21C9JE21_HUMAN
RNA-binding protein 28
RBM28
204Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti21E → G in BAD96436 (Ref. 2) Curated1
Sequence conflicti361L → P in BAG62214 (PubMed:14702039).Curated1
Sequence conflicti668R → K in BAG62214 (PubMed:14702039).Curated1
Sequence conflicti739Q → R in BAA91575 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_045654253E → Q. Corresponds to variant dbSNP:rs11554671Ensembl.1
Natural variantiVAR_045655351L → P in ANES. 1 PublicationCorresponds to variant dbSNP:rs118204055EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04611139 – 179Missing in isoform 2. 1 PublicationAdd BLAST141

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS55159.1 [Q9NW13-2]
CCDS5801.1 [Q9NW13-1]
RefSeqiNP_001159607.1, NM_001166135.1 [Q9NW13-2]
NP_060547.2, NM_018077.2 [Q9NW13-1]
UniGeneiHs.274263
Hs.552129

Genome annotation databases

EnsembliENST00000223073; ENSP00000223073; ENSG00000106344 [Q9NW13-1]
ENST00000415472; ENSP00000390517; ENSG00000106344 [Q9NW13-2]
GeneIDi55131
KEGGihsa:55131
UCSCiuc011koj.2 human [Q9NW13-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS55159.1 [Q9NW13-2]
CCDS5801.1 [Q9NW13-1]
RefSeqiNP_001159607.1, NM_001166135.1 [Q9NW13-2]
NP_060547.2, NM_018077.2 [Q9NW13-1]
UniGeneiHs.274263
Hs.552129

3D structure databases

ProteinModelPortaliQ9NW13
SMRiQ9NW13
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120437, 105 interactors
CORUMiQ9NW13
IntActiQ9NW13, 34 interactors
MINTiQ9NW13
STRINGi9606.ENSP00000223073

PTM databases

iPTMnetiQ9NW13
PhosphoSitePlusiQ9NW13
SwissPalmiQ9NW13

Polymorphism and mutation databases

BioMutaiRBM28
DMDMi55976611

2D gel databases

SWISS-2DPAGEiQ9NW13

Proteomic databases

EPDiQ9NW13
MaxQBiQ9NW13
PaxDbiQ9NW13
PeptideAtlasiQ9NW13
PRIDEiQ9NW13
ProteomicsDBi82886

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000223073; ENSP00000223073; ENSG00000106344 [Q9NW13-1]
ENST00000415472; ENSP00000390517; ENSG00000106344 [Q9NW13-2]
GeneIDi55131
KEGGihsa:55131
UCSCiuc011koj.2 human [Q9NW13-1]

Organism-specific databases

CTDi55131
DisGeNETi55131
EuPathDBiHostDB:ENSG00000106344.8
GeneCardsiRBM28
HGNCiHGNC:21863 RBM28
HPAiHPA019058
HPA026672
HPA031519
MalaCardsiRBM28
MIMi612074 gene
612079 phenotype
neXtProtiNX_Q9NW13
OpenTargetsiENSG00000106344
Orphaneti157954 ANE syndrome
PharmGKBiPA134867266
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0127 Eukaryota
ENOG410XSHP LUCA
GeneTreeiENSGT00550000074976
HOGENOMiHOG000124666
HOVERGENiHBG073213
InParanoidiQ9NW13
KOiK14573
OMAiVGCAFVQ
OrthoDBiEOG091G0JKS
PhylomeDBiQ9NW13
TreeFamiTF312798

Enzyme and pathway databases

ReactomeiR-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol

Miscellaneous databases

ChiTaRSiRBM28 human
GeneWikiiRBM28
GenomeRNAii55131
PROiPR:Q9NW13
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106344 Expressed in 224 organ(s), highest expression level in corpus callosum
CleanExiHS_RBM28
ExpressionAtlasiQ9NW13 baseline and differential
GenevisibleiQ9NW13 HS

Family and domain databases

Gene3Di3.30.70.330, 4 hits
InterProiView protein in InterPro
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
PfamiView protein in Pfam
PF00076 RRM_1, 3 hits
SMARTiView protein in SMART
SM00360 RRM, 4 hits
SUPFAMiSSF54928 SSF54928, 4 hits
PROSITEiView protein in PROSITE
PS50102 RRM, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiRBM28_HUMAN
AccessioniPrimary (citable) accession number: Q9NW13
Secondary accession number(s): A4D100
, B4DU52, E9PDD9, Q53H65, Q96CV3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 23, 2004
Last sequence update: January 23, 2007
Last modified: November 7, 2018
This is version 154 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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