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    RBM27 RNA binding motif protein 27 [ Homo sapiens (human) ]

    Gene ID: 54439, updated on 17-Jun-2024

    Summary

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    Official Symbol
    RBM27provided by HGNC
    Official Full Name
    RNA binding motif protein 27provided by HGNC
    Primary source
    HGNC:HGNC:29243
    See related
    Ensembl:ENSG00000091009 MIM:620082; AllianceGenome:HGNC:29243
    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
    Psc1; ARRS1; ZC3H18; ZC3H20
    Summary
    Enables RNA binding activity. Predicted to be involved in mRNA processing. Predicted to be located in cytoplasm and nuclear speck. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 10.3), bone marrow (RPKM 8.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RBM27 in Genome Data Viewer
    Location:
    5q32
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (146203605..146289223)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (146739205..146824811)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (145583168..145668786)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene leucyl-tRNA synthetase 1 Neighboring gene ribosomal protein L35a pseudogene 16 Neighboring gene ribosomal protein L35a pseudogene 17 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81447 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81571 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81576 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81597 Neighboring gene MPRA-validated peak5520 silencer Neighboring gene MPRA-validated peak5521 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:145562805-145563651 Neighboring gene Sharpr-MPRA regulatory region 14811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23360 Neighboring gene RBM27-POU4F3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23361 Neighboring gene Sharpr-MPRA regulatory region 15600 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81701 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81715 Neighboring gene RNA, U7 small nuclear 180 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81725 Neighboring gene MPRA-validated peak5522 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:145724002-145724515 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:145725029-145725541 Neighboring gene POU class 4 homeobox 3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81810 Neighboring gene uncharacterized LOC105378213

    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. The human ZC3H3 and RBM26/27 proteins are critical for PAXT-mediated nuclear RNA decay. Silla T, et al. Nucleic Acids Res, 2020 Mar 18. PMID 31950173, Free PMC Article
    2. A family of RS domain proteins with novel subcellular localization and trafficking. Kavanagh SJ, et al. Nucleic Acids Res, 2005. PMID 15741184, Free PMC Article
    3. Mitochondrial antiviral-signalling protein is a client of the BAG6 protein quality control complex. Roboti P, et al. J Cell Sci, 2022 May 1. PMID 35543156, Free PMC Article
    4. An Interaction Network of the Human SEPT9 Established by Quantitative Mass Spectrometry. Hecht M, et al. G3 (Bethesda), 2019 Jun 5. PMID 30975701, Free PMC Article
    5. Apocrine glands are bystanders in hidradenitis suppurativa and their involvement is gender specific. Zouboulis CC, et al. J Eur Acad Dermatol Venereol, 2020 Jul. PMID 32031713

    See all (80) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PAPgamma associates with PAXT nuclear exosome to control the abundance of PROMPT ncRNAs.
      Title: PAPγ associates with PAXT nuclear exosome to control the abundance of PROMPT ncRNAs.
    2. three additional proteins required for Poly(A) Tail eXosome Targeting (PAXT) function: ZC3H3, RBM26 and RBM27 along with the known PAXT-associated protein, PABPN1, were identified.
      Title: The human ZC3H3 and RBM26/27 proteins are critical for PAXT-mediated nuclear RNA decay.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough LOC127814297

    Readthrough gene: LOC127814297, Included gene: POU4F3

    Homology

    Clone Names

    • KIAA1311

    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 metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    RNA-binding protein 27
    Names
    acidic rich RS domain containing 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_018989.2 → NP_061862.1  RNA-binding protein 27

      See identical proteins and their annotated locations for NP_061862.1

      Status: VALIDATED

      Source sequence(s)
      AB037732, AL833706, BX647384
      Consensus CDS
      CCDS43378.1
      UniProtKB/Swiss-Prot
      Q8IYW9, Q9P2N5
      UniProtKB/TrEMBL
      U3KPZ7
      Related
      ENSP00000265271.5, ENST00000265271.7
      Conserved Domains (5) summary
      cd12517
      Location:599 → 674
      RRM_RBM27; RNA recognition motif of vertebrate RNA-binding protein 27 (RBM27)
      pfam00642
      Location:277 → 299
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      cl02562
      Location:7 → 72
      PWI; PWI domain
      cl17169
      Location:971 → 1013
      RRM_SF; RNA recognition motif (RRM) superfamily
      cl19219
      Location:813 → 902
      DUF342; Protein of unknown function (DUF342)

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      146203605..146289223
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      146739205..146824811
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2N5.2 GenPept UniProtKB/Swiss-Prot:Q9P2N5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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