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    RBM11 RNA binding motif protein 11 [ Homo sapiens (human) ]

    Gene ID: 54033, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RBM11provided by HGNC
    Official Full Name
    RNA binding motif protein 11provided by HGNC
    Primary source
    HGNC:HGNC:9897
    See related
    Ensembl:ENSG00000185272 MIM:617937; AllianceGenome:HGNC:9897
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables poly(U) RNA binding activity and protein homodimerization activity. Acts upstream of or within cellular response to oxidative stress and regulation of alternative mRNA splicing, via spliceosome. Located in nuclear speck. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in ovary (RPKM 1.3), thyroid (RPKM 1.3) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RBM11 in Genome Data Viewer
    Location:
    21q11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (14216157..14228372)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (12558865..12571078)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (15588478..15600693)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377134 Neighboring gene Sharpr-MPRA regulatory region 1456 Neighboring gene RNA, 5S ribosomal pseudogene 488 Neighboring gene endoplasmic reticulum lectin 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18269 Neighboring gene lipase I Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13213 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:15653463-15654235 Neighboring gene ATP binding cassette subfamily C member 13 (pseudogene) Neighboring gene uncharacterized LOC105369304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18270 Neighboring gene heat shock protein family A (Hsp70) member 13

    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. Apoptotic Cell-Derived Extracellular Vesicles Promote Malignancy of Glioblastoma Via Intercellular Transfer of Splicing Factors. Pavlyukov MS, et al. Cancer Cell, 2018 Jul 9. PMID 29937354, Free PMC Article
    2. RNA-Binding Motif Protein 11 (RBM11) Serves as a Prognostic Biomarker and Promotes Ovarian Cancer Progression. Fu C, et al. Dis Markers, 2021. PMID 34434291, Free PMC Article
    3. Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms. Brun ME, et al. Gene, 2003 Jul 17. PMID 12909339
    4. Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis. Gardiner K, et al. Genomics, 2002 Jun. PMID 12036298
    5. The RNA recognition motif protein RBM11 is a novel tissue-specific splicing regulator. Pedrotti S, et al. Nucleic Acids Res, 2012 Feb. PMID 21984414, Free PMC Article

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables poly(U) RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables single-stranded RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cellular response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of alternative mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of alternative mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    splicing regulator RBM11
    Names
    putative RNA-binding protein 11

    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_001320602.2 → NP_001307531.1  splicing regulator RBM11 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate, in-frame splice acceptor site in the 3' coding region, compared to variant 1. This variant encodes a protein (isoform 2) with a longer C-terminus, compared to isoform 1.
      Source sequence(s)
      BC030196, CB153254, CN430785
      UniProtKB/Swiss-Prot
      P57052
      Conserved Domains (2) summary
      COG0724
      Location:5 → 139
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12593
      Location:9 → 83
      RRM_RBM11; RNA recognition motif in vertebrate RNA-binding protein 11 (RBM11)

    2. NM_144770.5 → NP_658983.3  splicing regulator RBM11 isoform 1

      See identical proteins and their annotated locations for NP_658983.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      BC030196, CB153254
      Consensus CDS
      CCDS46635.1
      UniProtKB/Swiss-Prot
      P57052, Q6YNC2, Q8NBA1, Q8NFF6
      Related
      ENSP00000383421.3, ENST00000400577.4
      Conserved Domains (1) summary
      cd12593
      Location:9 → 83
      RRM_RBM11; RNA recognition motif in vertebrate RNA-binding protein 11 (RBM11)

    RNA

    1. NR_135308.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF519623, BC030196, CB153254
      Related
      ENST00000495055.1

    2. NR_135309.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has multiple differences at alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF519623, BC030196, CB153254, CN430785

    3. NR_135310.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK091331, BC030196, CB153254
      Related
      ENST00000468643.5

    4. NR_135311.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) has multiple differences at alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC030196, CN430785

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      14216157..14228372
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028387.2 → XP_016883876.1  splicing regulator RBM11 isoform X3

    2. XM_047440851.1 → XP_047296807.1  splicing regulator RBM11 isoform X2

    3. XM_005260997.6 → XP_005261054.1  splicing regulator RBM11 isoform X1

      Conserved Domains (2) summary
      COG0724
      Location:5 → 139
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12593
      Location:9 → 83
      RRM_RBM11; RNA recognition motif in vertebrate RNA-binding protein 11 (RBM11)

    4. XM_017028384.3 → XP_016883873.1  splicing regulator RBM11 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      12558865..12571078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324591.1 → XP_054180566.1  splicing regulator RBM11 isoform X1

    2. XM_054324593.1 → XP_054180568.1  splicing regulator RBM11 isoform X2

    3. XM_054324594.1 → XP_054180569.1  splicing regulator RBM11 isoform X3

    4. XM_054324592.1 → XP_054180567.1  splicing regulator RBM11 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P57052.1 GenPept UniProtKB/Swiss-Prot:P57052

    Gene LinkOut

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