We will be switching to the new UniProt website soon. Please explore and share your feedback.
Take me to the new website.
UniProtKB - Q9NW13 (RBM28_HUMAN)
Protein
RNA-binding protein 28
Gene
RBM28
Organism
Homo sapiens (Human)
Status
Functioni
Nucleolar component of the spliceosomal ribonucleoprotein complexes.
1 PublicationGO - Molecular functioni
- RNA binding Source: UniProtKB
GO - Biological processi
- mRNA processing Source: UniProtKB-KW
- RNA splicing Source: UniProtKB-KW
Keywordsi
Molecular function | RNA-binding |
Biological process | mRNA processing, mRNA splicing |
Enzyme and pathway databases
PathwayCommonsi | Q9NW13 |
Reactomei | R-HSA-6791226, Major pathway of rRNA processing in the nucleolus and cytosol |
SignaLinki | Q9NW13 |
Names & Taxonomyi
Protein namesi | Recommended name: RNA-binding protein 28Alternative name(s): RNA-binding motif protein 28 |
Gene namesi | Name:RBM28 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:21863, RBM28 |
MIMi | 612074, gene |
neXtProti | NX_Q9NW13 |
VEuPathDBi | HostDB:ENSG00000106344 |
Subcellular locationi
Nucleus
- nucleolus 3 Publications
Nucleus
- nucleolus Source: HPA
- spliceosomal complex Source: UniProtKB-KW
Keywords - Cellular componenti
Nucleus, SpliceosomePathology & Biotechi
Involvement in diseasei
Alopecia, neurologic defects, and endocrinopathy syndrome (ANES)1 Publication
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_045655 | 351 | L → P in ANES. 1 PublicationCorresponds to variant dbSNP:rs118204055EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Hypotrichosis, Mental retardationOrganism-specific databases
DisGeNETi | 55131 |
MalaCardsi | RBM28 |
MIMi | 612079, phenotype |
OpenTargetsi | ENSG00000106344 |
Orphaneti | 157954, ANE syndrome |
PharmGKBi | PA134867266 |
Miscellaneous databases
Pharosi | Q9NW13, Tbio |
Genetic variation databases
BioMutai | RBM28 |
DMDMi | 55976611 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | Removed1 Publication | |||
ChainiPRO_0000081785 | 2 – 759 | RNA-binding protein 28Add BLAST | 758 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanine1 Publication | 1 | |
Modified residuei | 122 | PhosphoserineCombined sources | 1 | |
Modified residuei | 397 | PhosphoserineCombined sources | 1 | |
Cross-linki | 653 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q9NW13 |
jPOSTi | Q9NW13 |
MassIVEi | Q9NW13 |
MaxQBi | Q9NW13 |
PaxDbi | Q9NW13 |
PeptideAtlasi | Q9NW13 |
PRIDEi | Q9NW13 |
ProteomicsDBi | 19642 82886 [Q9NW13-1] |
2D gel databases
SWISS-2DPAGEi | Q9NW13 |
PTM databases
GlyGeni | Q9NW13, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q9NW13 |
PhosphoSitePlusi | Q9NW13 |
SwissPalmi | Q9NW13 |
Expressioni
Tissue specificityi
Ubiquitously expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000106344, Expressed in sural nerve and 234 other tissues |
ExpressionAtlasi | Q9NW13, baseline and differential |
Genevisiblei | Q9NW13, HS |
Organism-specific databases
HPAi | ENSG00000106344, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with U1, U2, U4, U5, and U6 spliceosomal small nuclear RNAs (snRNAs).
1 PublicationProtein-protein interaction databases
BioGRIDi | 120437, 259 interactors |
CORUMi | Q9NW13 |
IntActi | Q9NW13, 82 interactors |
MINTi | Q9NW13 |
STRINGi | 9606.ENSP00000223073 |
Miscellaneous databases
RNActi | Q9NW13, protein |
Structurei
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 4 – 80 | RRM 1PROSITE-ProRule annotationAdd BLAST | 77 | |
Domaini | 114 – 191 | RRM 2PROSITE-ProRule annotationAdd BLAST | 78 | |
Domaini | 335 – 419 | RRM 3PROSITE-ProRule annotationAdd BLAST | 85 | |
Domaini | 487 – 597 | RRM 4PROSITE-ProRule annotationAdd BLAST | 111 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 84 – 105 | DisorderedSequence analysisAdd BLAST | 22 | |
Regioni | 201 – 330 | DisorderedSequence analysisAdd BLAST | 130 | |
Regioni | 594 – 759 | DisorderedSequence analysisAdd BLAST | 166 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 87 – 105 | Basic and acidic residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 201 – 226 | Basic and acidic residuesSequence analysisAdd BLAST | 26 | |
Compositional biasi | 227 – 256 | Acidic residuesSequence analysisAdd BLAST | 30 | |
Compositional biasi | 287 – 307 | Acidic residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 308 – 330 | Basic and acidic residuesSequence analysisAdd BLAST | 23 | |
Compositional biasi | 620 – 637 | Basic and acidic residuesSequence analysisAdd BLAST | 18 | |
Compositional biasi | 638 – 653 | Polar residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 670 – 695 | Basic residuesSequence analysisAdd BLAST | 26 | |
Compositional biasi | 712 – 726 | Basic and acidic residuesSequence analysisAdd BLAST | 15 |
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0127, Eukaryota |
GeneTreei | ENSGT00550000074976 |
HOGENOMi | CLU_011608_2_0_1 |
InParanoidi | Q9NW13 |
OMAi | RNLPWSV |
PhylomeDBi | Q9NW13 |
TreeFami | TF312798 |
Family and domain databases
Gene3Di | 3.30.70.330, 4 hits |
InterProi | View protein in InterPro IPR012677, Nucleotide-bd_a/b_plait_sf IPR035979, RBD_domain_sf IPR000504, RRM_dom |
Pfami | View protein in Pfam PF00076, RRM_1, 3 hits |
SMARTi | View protein in SMART SM00360, RRM, 4 hits |
SUPFAMi | SSF54928, SSF54928, 4 hits |
PROSITEi | View protein in PROSITE PS50102, RRM, 4 hits |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JAA9 | C9JAA9_HUMAN | RNA-binding protein 28 | RBM28 | 283 | Annotation score: | ||
C9JE21 | C9JE21_HUMAN | RNA-binding protein 28 | RBM28 | 204 | Annotation score: | ||
H7C5G8 | H7C5G8_HUMAN | RNA-binding protein 28 | RBM28 | 186 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 21 | E → G in BAD96436 (Ref. 2) Curated | 1 | |
Sequence conflicti | 361 | L → P in BAG62214 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 668 | R → K in BAG62214 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 739 | Q → R in BAA91575 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_045654 | 253 | E → Q. Corresponds to variant dbSNP:rs11554671Ensembl. | 1 | |
Natural variantiVAR_045655 | 351 | L → P in ANES. 1 PublicationCorresponds to variant dbSNP:rs118204055EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046111 | 39 – 179 | Missing in isoform 2. 1 PublicationAdd BLAST | 141 |
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 |
CCDSi | CCDS55159.1 [Q9NW13-2] CCDS5801.1 [Q9NW13-1] |
RefSeqi | NP_001159607.1, NM_001166135.1 [Q9NW13-2] NP_060547.2, NM_018077.2 [Q9NW13-1] |
Genome annotation databases
Ensembli | ENST00000223073; ENSP00000223073; ENSG00000106344 ENST00000415472; ENSP00000390517; ENSG00000106344 [Q9NW13-2] |
GeneIDi | 55131 |
KEGGi | hsa:55131 |
MANE-Selecti | ENST00000223073.6; ENSP00000223073.1; NM_018077.3; NP_060547.2 |
UCSCi | uc011koj.2, human [Q9NW13-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS55159.1 [Q9NW13-2] CCDS5801.1 [Q9NW13-1] |
RefSeqi | NP_001159607.1, NM_001166135.1 [Q9NW13-2] NP_060547.2, NM_018077.2 [Q9NW13-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 120437, 259 interactors |
CORUMi | Q9NW13 |
IntActi | Q9NW13, 82 interactors |
MINTi | Q9NW13 |
STRINGi | 9606.ENSP00000223073 |
PTM databases
GlyGeni | Q9NW13, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q9NW13 |
PhosphoSitePlusi | Q9NW13 |
SwissPalmi | Q9NW13 |
Genetic variation databases
BioMutai | RBM28 |
DMDMi | 55976611 |
2D gel databases
SWISS-2DPAGEi | Q9NW13 |
Proteomic databases
EPDi | Q9NW13 |
jPOSTi | Q9NW13 |
MassIVEi | Q9NW13 |
MaxQBi | Q9NW13 |
PaxDbi | Q9NW13 |
PeptideAtlasi | Q9NW13 |
PRIDEi | Q9NW13 |
ProteomicsDBi | 19642 82886 [Q9NW13-1] |
Protocols and materials databases
Antibodypediai | 17763, 145 antibodies from 26 providers |
DNASUi | 55131 |
Genome annotation databases
Ensembli | ENST00000223073; ENSP00000223073; ENSG00000106344 ENST00000415472; ENSP00000390517; ENSG00000106344 [Q9NW13-2] |
GeneIDi | 55131 |
KEGGi | hsa:55131 |
MANE-Selecti | ENST00000223073.6; ENSP00000223073.1; NM_018077.3; NP_060547.2 |
UCSCi | uc011koj.2, human [Q9NW13-1] |
Organism-specific databases
CTDi | 55131 |
DisGeNETi | 55131 |
GeneCardsi | RBM28 |
HGNCi | HGNC:21863, RBM28 |
HPAi | ENSG00000106344, Low tissue specificity |
MalaCardsi | RBM28 |
MIMi | 612074, gene 612079, phenotype |
neXtProti | NX_Q9NW13 |
OpenTargetsi | ENSG00000106344 |
Orphaneti | 157954, ANE syndrome |
PharmGKBi | PA134867266 |
VEuPathDBi | HostDB:ENSG00000106344 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0127, Eukaryota |
GeneTreei | ENSGT00550000074976 |
HOGENOMi | CLU_011608_2_0_1 |
InParanoidi | Q9NW13 |
OMAi | RNLPWSV |
PhylomeDBi | Q9NW13 |
TreeFami | TF312798 |
Enzyme and pathway databases
PathwayCommonsi | Q9NW13 |
Reactomei | R-HSA-6791226, Major pathway of rRNA processing in the nucleolus and cytosol |
SignaLinki | Q9NW13 |
Miscellaneous databases
BioGRID-ORCSi | 55131, 483 hits in 1059 CRISPR screens |
ChiTaRSi | RBM28, human |
GeneWikii | RBM28 |
GenomeRNAii | 55131 |
Pharosi | Q9NW13, Tbio |
PROi | PR:Q9NW13 |
RNActi | Q9NW13, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000106344, Expressed in sural nerve and 234 other tissues |
ExpressionAtlasi | Q9NW13, baseline and differential |
Genevisiblei | Q9NW13, HS |
Family and domain databases
Gene3Di | 3.30.70.330, 4 hits |
InterProi | View protein in InterPro IPR012677, Nucleotide-bd_a/b_plait_sf IPR035979, RBD_domain_sf IPR000504, RRM_dom |
Pfami | View protein in Pfam PF00076, RRM_1, 3 hits |
SMARTi | View protein in SMART SM00360, RRM, 4 hits |
SUPFAMi | SSF54928, SSF54928, 4 hits |
PROSITEi | View protein in PROSITE PS50102, RRM, 4 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | RBM28_HUMAN | |
Accessioni | Q9NW13Primary (citable) accession number: Q9NW13 Secondary accession number(s): A4D100 Q96CV3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 23, 2004 |
Last sequence update: | January 23, 2007 | |
Last modified: | February 23, 2022 | |
This is version 174 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot