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

Gene ID: 129831, updated on 5-Mar-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
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Genomic context

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Location:
2q31.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (178112437..178139011)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (178595169..178612405)
105.20220307 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
  • 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. 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
  5. 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

See all (37) 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 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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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_2023_10

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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