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    RBM14-RBM4 RBM14-RBM4 readthrough [ Homo sapiens (human) ]

    Gene ID: 100526737, updated on 17-Sep-2024

    Summary

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    Official Symbol
    RBM14-RBM4provided by HGNC
    Official Full Name
    RBM14-RBM4 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:38840
    See related
    Ensembl:ENSG00000248643 AllianceGenome:HGNC:38840
    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
    Also known as
    SIP; COAZ; PSP2; RBM14
    Summary
    This locus represents naturally occurring read-through transcription between the neighboring RBM14 (RNA binding motif protein 14) and RBM4 (RNA binding motif protein 4) genes. Alternative splicing results in multiple transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product. This fusion protein contains RRM and zinc finger domains, and it functions to stimulate transcription in a hormone and receptor-dependent manner. [provided by RefSeq, Nov 2010]
    Expression
    Ubiquitous expression in testis (RPKM 23.5), bone marrow (RPKM 21.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RBM14-RBM4 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66616630..66646468)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66612875..66642712)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66384101..66413939)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene copper chaperone for superoxide dismutase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5053 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66384051-66384984 Neighboring gene RNA, U4 small nuclear 39, pseudogene Neighboring gene RNA binding motif protein 14 Neighboring gene hESC enhancers GRCh37_chr11:66405625-66406338 and GRCh37_chr11:66406339-66407050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66410755-66411278 Neighboring gene MPRA-validated peak1306 silencer Neighboring gene RNA binding motif protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3600 Neighboring gene RNA binding motif protein 4B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66453249-66453749 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:66462288-66462788 Neighboring gene spectrin beta, non-erythrocytic 2 Neighboring gene RNA, 7SL, cytoplasmic 12, pseudogene

    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. Functional pre- mRNA trans-splicing of coactivator CoAA and corepressor RBM4 during stem/progenitor cell differentiation. Brooks YS, et al. J Biol Chem, 2009 Jul 3. PMID 19416963, Free PMC Article
    2. Partners of wild type Grb7 and a mutant lacking its calmodulin-binding domain. García-Palmero I, et al. Arch Biochem Biophys, 2020 Jul 15. PMID 32360748
    3. Viral protein engagement of GBF1 induces host cell vulnerability through synthetic lethality. Navare AT, et al. J Cell Biol, 2022 Nov 7. PMID 36305789, Free PMC Article
    4. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article
    5. Systematic proteomics of endogenous human cohesin reveals an interaction with diverse splicing factors and RNA-binding proteins required for mitotic progression. Kim JS, et al. J Biol Chem, 2019 May 31. PMID 31010829, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    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

    Readthrough RBM14-RBM4

    Included genes: RBM4, RBM14

    Homology

    Clone Names

    • FLJ78260

    General protein information

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    Preferred Names
    RBM14-RBM4 protein
    Names
    Paraspeckle protein 2
    RBM14/RBM4 fusion
    RNA-binding motif protein 14
    RNA-binding protein 14
    RRM-containing coactivator activator/modulator
    SYT-interacting protein
    Synaptotagmin-interacting protein
    transcriptional coactivator CoAZ

    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_001198845.2 → NP_001185774.1  RBM14-RBM4 protein isoform 1

      See identical proteins and their annotated locations for NP_001185774.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1), which shares sequence identity with the products of both the RBM14 and RBM4 genes.
      Source sequence(s)
      EU287938
      UniProtKB/Swiss-Prot
      Q96PK6
      Related
      ENSP00000388552.2, ENST00000412278.2
      Conserved Domains (4) summary
      PTZ00368
      Location:120 → 156
      PTZ00368; universal minicircle sequence binding protein (UMSBP); Provisional
      smart00343
      Location:136 → 151
      ZnF_C2HC; zinc finger
      cd12608
      Location:1 → 71
      RRM1_CoAA; RNA recognition motif 1 (RRM1) found in vertebrate RRM-containing coactivator activator/modulator (CoAA)
      cl17169
      Location:79 → 113
      RRM_SF; RNA recognition motif (RRM) superfamily

    2. NM_001198846.2 → NP_001185775.1  RBM14-RBM4 protein isoform 2

      See identical proteins and their annotated locations for NP_001185775.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AP001157, AW958943
      UniProtKB/TrEMBL
      A0A0A6YYI9, F8WDX3
      Related
      ENSP00000421279.1, ENST00000500635.2
      Conserved Domains (1) summary
      cl17169
      Location:1 → 71
      RRM_SF; RNA recognition motif (RRM) superfamily

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      66616630..66646468
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      66612875..66642712
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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