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

    Gene ID: 55131, updated on 5-Mar-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
    mouse all
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    Genomic context

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    Location:
    7q32.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (128297685..128343908, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (129609469..129655695, complement)
    105.20220307 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. 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
    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. 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
    4. Human RBM28 protein is a specific nucleolar component of the spliceosomal snRNPs. Damianov A, et al. Biol Chem, 2006 Oct-Nov. PMID 17081119
    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 (114) 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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 
    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_2023_10

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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