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RBM28 RNA binding motif protein 28 [ Homo sapiens (human) ]

Gene ID: 55131, updated on 27-Nov-2024

Summary

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Official Symbol
RBM28provided by HGNC
Official Full Name
RNA binding motif protein 28provided by HGNC
Primary source
HGNC:HGNC:21863
See related
Ensembl:ENSG00000106344 MIM:612074; AllianceGenome:HGNC:21863
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ANES; NOP4
Summary
The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in testis (RPKM 3.5), skin (RPKM 3.3) and 25 other tissues See more
Orthologs
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Genomic context

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See RBM28 in Genome Data Viewer
Location:
7q32.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (128297685..128343908, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (129609469..129655695, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (127937738..127983962, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901744 Neighboring gene microRNA 129-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26595 Neighboring gene LEP 5' regulatory region Neighboring gene leptin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:127902350-127902850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:127907575-127908304 Neighboring gene Sharpr-MPRA regulatory region 322 Neighboring gene aurora kinase A pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:127959579-127960080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26597 Neighboring gene RNA, U7 small nuclear 27 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:127999072-127999941 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:127999942-128000810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128000811-128001679 Neighboring gene proline rich transmembrane protein 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Human RBM28 protein is a specific nucleolar component of the spliceosomal snRNPs. Damianov A, et al. Biol Chem, 2006 Oct-Nov. PMID 17081119
  2. ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency. Spiegel R, et al. Eur J Endocrinol, 2010 Jun. PMID 20231366
  3. Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome. Bryant CJ, et al. Proc Natl Acad Sci U S A, 2021 May 11. PMID 33941690, Free PMC Article
  4. Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. Nousbeck J, et al. Am J Hum Genet, 2008 May. PMID 18439547, Free PMC Article
  5. RNA-binding protein RBM28 can translocate from the nucleolus to the nucleoplasm to inhibit the transcriptional activity of p53. Lin X, et al. J Biol Chem, 2022 Feb. PMID 34953860, Free PMC Article

See all (134) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RNA-binding protein RBM28 can translocate from the nucleolus to the nucleoplasm to inhibit the transcriptional activity of p53.
    Title: RNA-binding protein RBM28 can translocate from the nucleolus to the nucleoplasm to inhibit the transcriptional activity of p53.
  2. Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.
    Title: Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.
  3. The authors conclude that the ANE syndrome mutation generates defective RBM28 protein folding which abrogates protein-protein interactions and causes faulty pre-large subunit rRNA processing, thus revealing one aspect of the molecular basis of this human disease.
    Title: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome.
  4. RBM28 controls the expression of miR-203. RBM28 contributes to hair follicle growth regulation through modulation of miR-203 and p63 activity.
    Title: RBM28, a protein deficient in ANE syndrome, regulates hair follicle growth via miR-203 and p63.
  5. RBM28 gene defects should be added to the growing list of gene defects associated with syndromic combined anterior pituitary hormone deficiency.
    Title: ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.
  6. A loss-of-function mutation is found in RBM28, encoding a nucleolar protein in patients with alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome).
    Title: Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.
  7. RBM28 is a common nucleolar component of the spliceosomal ribonucleoprotein complexes, possibly coordinating their transition through the nucleolus
    Title: Human RBM28 protein is a specific nucleolar component of the spliceosomal snRNPs.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
ANE syndrome
MedGen: C2677535 OMIM: 612079 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human RNA binding motif protein 28 (RBM28) at amino acid residues 648-649 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10377, MGC27345, DKFZp781G2113

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in RNA splicing IEA
Inferred from Electronic Annotation
more info
  
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
part_of spliceosomal complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
RNA-binding protein 28
Names
2810480G15Rik

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015802.2 RefSeqGene

    Range
    5000..51223
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166135.2 → NP_001159607.1  RNA-binding protein 28 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC010655, AC018635
    Consensus CDS
    CCDS55159.1
    UniProtKB/Swiss-Prot
    Q9NW13
    Related
    ENSP00000390517.2, ENST00000415472.6
    Conserved Domains (5) summary
    TIGR01628
    Location:187 → 580
    PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
    COG0724
    Location:133 → 276
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12415
    Location:194 → 276
    RRM3_RBM28_like; RNA recognition motif 3 in RNA-binding protein 28 (RBM28) and similar proteins
    cd12416
    Location:346 → 440
    RRM4_RBM28_like; RNA recognition motif 4 in RNA-binding protein 28 (RBM28) and similar proteins
    cl17169
    Location:5 → 42
    RRM_SF; RNA recognition motif (RRM) superfamily

  2. NM_018077.3 → NP_060547.2  RNA-binding protein 28 isoform 1

    See identical proteins and their annotated locations for NP_060547.2

    Status: REVIEWED

    Source sequence(s)
    AC010655, AC018635
    Consensus CDS
    CCDS5801.1
    UniProtKB/Swiss-Prot
    A4D100, B4DU52, E9PDD9, Q53H65, Q96CV3, Q9NW13
    UniProtKB/TrEMBL
    A0A024R753
    Related
    ENSP00000223073.1, ENST00000223073.6
    Conserved Domains (5) summary
    cd12413
    Location:5 → 81
    RRM1_RBM28_like; RNA recognition motif 1 in RNA-binding protein 28 (RBM28) and similar proteins
    cd12414
    Location:115 → 190
    RRM2_RBM28_like; RNA recognition motif 2 in RNA-binding protein 28 (RBM28) and similar proteins
    cd12415
    Location:335 → 417
    RRM3_RBM28_like; RNA recognition motif 3 in RNA-binding protein 28 (RBM28) and similar proteins
    cd12416
    Location:487 → 581
    RRM4_RBM28_like; RNA recognition motif 4 in RNA-binding protein 28 (RBM28) and similar proteins
    cl25887
    Location:126 → 721
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    128297685..128343908 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    129609469..129655695 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_175880.2: Suppressed sequence

    Description
    NM_175880.2: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.

  2. NR_046216.1: Suppressed sequence

    Description
    NR_046216.1: This RefSeq was removed because the gene was discontinued.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NW13.3 GenPept UniProtKB/Swiss-Prot:Q9NW13

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