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

Gene ID: 54033, updated on 7-Apr-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, Apr 2022]
Expression
Broad expression in ovary (RPKM 1.3), thyroid (RPKM 1.3) and 21 other tissues See more
Orthologs
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Genomic context

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Location:
21q11.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (14216157..14228372)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (12558865..12571078)
105.20220307 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
  • 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. 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
  2. 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
  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 (42) 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_2023_10

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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