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

Gene ID: 100526737, updated on 16-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66616630..66646468)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66612875..66642712)
105.20220307 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
  • 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_2023_10

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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