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    RBM45 RNA binding motif protein 45 [ Homo sapiens (human) ]

    Gene ID: 129831, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RBM45provided by HGNC
    Official Full Name
    RNA binding motif protein 45provided by HGNC
    Primary source
    HGNC:HGNC:24468
    See related
    Ensembl:ENSG00000155636 MIM:608888; AllianceGenome:HGNC:24468
    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
    DRB1; RB-1
    Summary
    This gene encodes a member of the RNA recognition motif (RRM)-type RNA-binding family of proteins. This protein exhibits preferential binding to poly(C) RNA. Initial cloning of this gene found that the rat ortholog was dynamically expressed in the developing rat brain. This protein has been localized to inclusion bodies in the brain and spinal cord of amyotrophic lateral sclerosis and Alzheimer's patients. A pseudogene has been identified on chromosome 8. [provided by RefSeq, Feb 2015]
    Expression
    Ubiquitous expression in testis (RPKM 3.5), lymph node (RPKM 3.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RBM45 in Genome Data Viewer
    Location:
    2q31.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (178112437..178139011)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (178595169..178612405)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (178977164..178994383)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 11A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:178914409-178914909 Neighboring gene RNA, U6 small nuclear 629, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16801 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179018955-179019456 Neighboring gene cytochrome c, testis, pseudogene Neighboring gene RNA, U5E small nuclear 9, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12148 Neighboring gene Sharpr-MPRA regulatory region 8011 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:179075951-179076528 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:179076529-179077106 Neighboring gene oxysterol binding protein like 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179142162-179142662 Neighboring gene Sharpr-MPRA regulatory region 7285 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179217195-179217695 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:179228225-179228383

    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 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. Molecular basis of ssDNA recognition by RBM45 protein of neurodegenerative disease from multiple molecular dynamics simulations and energy predictions. Wang R, et al. J Mol Graph Model, 2023 Jan. PMID 36435031
    2. Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis. van der Zee J, et al. Neurobiol Dis, 2021 Aug. PMID 34118419
    3. Structural basis for RNA recognition by the N-terminal tandem RRM domains of human RBM45. Chen X, et al. Nucleic Acids Res, 2021 Mar 18. PMID 33577684, Free PMC Article
    4. RBM45 homo-oligomerization mediates association with ALS-linked proteins and stress granules. Li Y, et al. Sci Rep, 2015 Sep 22. PMID 26391765, Free PMC Article
    5. RNA Binding Motif Protein RBM45 Regulates Expression of the 11-Kilodalton Protein of Parvovirus B19 through Binding to Novel Intron Splicing Enhancers. Wang J, et al. mBio, 2020 Mar 10. PMID 32156816, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RBM45 reprograms lipid metabolism promoting hepatocellular carcinoma via Rictor and ACSL1/ACSL4.
      Title: RBM45 reprograms lipid metabolism promoting hepatocellular carcinoma via Rictor and ACSL1/ACSL4.
    2. Molecular basis of ssDNA recognition by RBM45 protein of neurodegenerative disease from multiple molecular dynamics simulations and energy predictions.
      Title: Molecular basis of ssDNA recognition by RBM45 protein of neurodegenerative disease from multiple molecular dynamics simulations and energy predictions.
    3. Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis.
      Title: Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis.
    4. Structural basis for RNA recognition by the N-terminal tandem RRM domains of human RBM45.
      Title: Structural basis for RNA recognition by the N-terminal tandem RRM domains of human RBM45.
    5. RNA Binding Motif Protein RBM45 Regulates Expression of the 11-Kilodalton Protein of Parvovirus B19 through Binding to Novel Intron Splicing Enhancers.
      Title: RNA Binding Motif Protein RBM45 Regulates Expression of the 11-Kilodalton Protein of Parvovirus B19 through Binding to Novel Intron Splicing Enhancers.
    6. Results suggest that RBM45 serves as a negative regulator to prevent FUS-mediated excessive recruitment of HDAC1 to the sites of DNA damage.
      Title: RBM45 competes with HDAC1 for binding to FUS in response to DNA damage.
    7. Analysis of the biological processes and pathways associated with RBM45-interacting proteins indicates enrichment for nuclear RNA processing/splicing via association with hnRNP proteins and cytoplasmic RNA translation via eiF2 and eiF4 pathways.
      Title: Immunoprecipitation and mass spectrometry defines an extensive RBM45 protein-protein interaction network.
    8. using an in vitro cellular model, we demonstrated that Drb1 co-localizes with cytoplasmic aggregates mediated by TAR DNA-binding protein 43
      Title: Developmentally Regulated RNA-binding Protein 1 (Drb1)/RNA-binding Motif Protein 45 (RBM45), a Nuclear-Cytoplasmic Trafficking Protein, Forms TAR DNA-binding Protein 43 (TDP-43)-mediated Cytoplasmic Aggregates.
    9. RMB45 may function as a homo-oligomer and that its oligomerization contributes to ALS/FTLD RNA-binding protein aggregation.
      Title: RBM45 homo-oligomerization mediates association with ALS-linked proteins and stress granules.
    10. Data indicate that RNA binding protein RBM45/Kelch-like ECH-associated protein 1 (KEAP1) interactions in amyotrophic lateral sclerosis (ALS) spinal cord.
      Title: RBM45 Modulates the Antioxidant Response in Amyotrophic Lateral Sclerosis through Interactions with KEAP1.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies two new risk loci for Graves' disease.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44612, MGC42237

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ribonucleoprotein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    RNA-binding protein 45
    Names
    developmentally regulated RNA-binding protein 1
    putative RNA binding protein RB-1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001365578.1 → NP_001352507.1  RNA-binding protein 45 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC011238, BC066549, BI763677
      Consensus CDS
      CCDS33335.1
      Conserved Domains (4) summary
      cd12366
      Location:23 → 104
      RRM1_RBM45; RNA recognition motif 1 (RRM1) found in RNA-binding protein 45 (RBM45) and similar proteins
      cd12367
      Location:120 → 193
      RRM2_RBM45; RNA recognition motif 2 (RRM2) found in RNA-binding protein 45 (RBM45) and similar proteins
      cd12368
      Location:246 → 318
      RRM3_RBM45; RNA recognition motif 3 (RRM3) found in RNA-binding protein 45 (RBM45) and similar proteins
      cd12369
      Location:391 → 458
      RRM4_RBM45; RNA recognition motif 4 (RRM4) found in RNA-binding protein 45 (RBM45) and similar proteins

    2. NM_001365579.1 → NP_001352508.1  RNA-binding protein 45 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AB036991, BC066549, BI763677
      Consensus CDS
      CCDS92906.1
      UniProtKB/Swiss-Prot
      Q6NYL0, Q8IUH3, Q8NFC9
      Conserved Domains (4) summary
      cd12366
      Location:23 → 104
      RRM1_RBM45; RNA recognition motif 1 (RRM1) found in RNA-binding protein 45 (RBM45) and similar proteins
      cd12367
      Location:120 → 193
      RRM2_RBM45; RNA recognition motif 2 (RRM2) found in RNA-binding protein 45 (RBM45) and similar proteins
      cd12368
      Location:248 → 320
      RRM3_RBM45; RNA recognition motif 3 (RRM3) found in RNA-binding protein 45 (RBM45) and similar proteins
      cd12369
      Location:393 → 460
      RRM4_RBM45; RNA recognition motif 4 (RRM4) found in RNA-binding protein 45 (RBM45) and similar proteins

    3. NM_152945.4 → NP_694453.2  RNA-binding protein 45 isoform 1

      See identical proteins and their annotated locations for NP_694453.2

      Status: REVIEWED

      Source sequence(s)
      BC066549, BI763677
      Consensus CDS
      CCDS33335.1
      UniProtKB/Swiss-Prot
      Q8IUH3
      Related
      ENSP00000286070.5, ENST00000286070.10
      Conserved Domains (4) summary
      cd12366
      Location:23 → 104
      RRM1_RBM45; RNA recognition motif 1 (RRM1) found in RNA-binding protein 45 (RBM45) and similar proteins
      cd12367
      Location:120 → 193
      RRM2_RBM45; RNA recognition motif 2 (RRM2) found in RNA-binding protein 45 (RBM45) and similar proteins
      cd12368
      Location:246 → 318
      RRM3_RBM45; RNA recognition motif 3 (RRM3) found in RNA-binding protein 45 (RBM45) and similar proteins
      cd12369
      Location:391 → 458
      RRM4_RBM45; RNA recognition motif 4 (RRM4) found in RNA-binding protein 45 (RBM45) and similar proteins

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      178112437..178139011
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443322.1 → XP_047299278.1  RNA-binding protein 45 isoform X1

    2. XM_047443321.1 → XP_047299277.1  RNA-binding protein 45 isoform X1

    3. XM_047443323.1 → XP_047299279.1  RNA-binding protein 45 isoform X2

    4. XM_047443324.1 → XP_047299280.1  RNA-binding protein 45 isoform X2

    5. XM_017003321.2 → XP_016858810.1  RNA-binding protein 45 isoform X1

      Conserved Domains (5) summary
      TIGR01628
      Location:41 → 206
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      cd12366
      Location:23 → 101
      RRM1_RBM45; RNA recognition motif 1 (RRM1) found in RNA-binding protein 45 (RBM45) and similar proteins
      cd12367
      Location:263 → 336
      RRM2_RBM45; RNA recognition motif 2 (RRM2) found in RNA-binding protein 45 (RBM45) and similar proteins
      cd12368
      Location:389 → 461
      RRM3_RBM45; RNA recognition motif 3 (RRM3) found in RNA-binding protein 45 (RBM45) and similar proteins
      cd12369
      Location:534 → 601
      RRM4_RBM45; RNA recognition motif 4 (RRM4) found in RNA-binding protein 45 (RBM45) and similar proteins

    6. XM_017003320.2 → XP_016858809.1  RNA-binding protein 45 isoform X1

      Conserved Domains (5) summary
      TIGR01628
      Location:41 → 206
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      cd12366
      Location:23 → 101
      RRM1_RBM45; RNA recognition motif 1 (RRM1) found in RNA-binding protein 45 (RBM45) and similar proteins
      cd12367
      Location:263 → 336
      RRM2_RBM45; RNA recognition motif 2 (RRM2) found in RNA-binding protein 45 (RBM45) and similar proteins
      cd12368
      Location:389 → 461
      RRM3_RBM45; RNA recognition motif 3 (RRM3) found in RNA-binding protein 45 (RBM45) and similar proteins
      cd12369
      Location:534 → 601
      RRM4_RBM45; RNA recognition motif 4 (RRM4) found in RNA-binding protein 45 (RBM45) and similar proteins

    RNA

    1. XR_007069526.1 RNA Sequence

    2. XR_007069527.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      178595169..178612405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340493.1 → XP_054196468.1  RNA-binding protein 45 isoform X1

    2. XM_054340492.1 → XP_054196467.1  RNA-binding protein 45 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IUH3.1 GenPept UniProtKB/Swiss-Prot:Q8IUH3

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