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    RBM18 RNA binding motif protein 18 [ Homo sapiens (human) ]

    Gene ID: 92400, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RBM18provided by HGNC
    Official Full Name
    RNA binding motif protein 18provided by HGNC
    Primary source
    HGNC:HGNC:28413
    See related
    Ensembl:ENSG00000119446 AllianceGenome:HGNC:28413
    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
    Predicted to enable RNA binding activity. Located in cytosol; intercellular bridge; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 9.9), brain (RPKM 9.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RBM18 in Genome Data Viewer
    Location:
    9q33.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (122237622..122264840, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (134435123..134462358, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (124999901..125027119, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3979 Neighboring gene MORN repeat containing 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:124962138-124962350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124988963-124989468 Neighboring gene LIM homeobox 6 Neighboring gene MPRA-validated peak7328 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:125026651-125027850 Neighboring gene mitochondrial ribosome recycling factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:125098749-125099354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:125099355-125099958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:125105266-125105789 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:125112881-125113087 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:125126021-125127220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:125137981-125138948 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:125145815-125147014 Neighboring gene prostaglandin-endoperoxide synthase 1

    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. Distinct class of putative "non-conserved" promoters in humans: comparative studies of alternative promoters of human and mouse genes. Tsuritani K, et al. Genome Res, 2007 Jul. PMID 17567985, Free PMC Article
    2. Image-based genome-wide siRNA screen identifies selective autophagy factors. Orvedahl A, et al. Nature, 2011 Dec 1. PMID 22020285, Free PMC Article
    3. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
    4. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. Aregger M, et al. Nat Metab, 2020 Jun. PMID 32694731, Free PMC Article
    5. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC2734

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    probable RNA-binding protein 18

    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_033117.4 → NP_149108.1  probable RNA-binding protein 18

      See identical proteins and their annotated locations for NP_149108.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the functional protein.
      Source sequence(s)
      AL162424, AL389986, BC008942, BP870502, CA314508, DA308339
      Consensus CDS
      CCDS6839.1
      UniProtKB/Swiss-Prot
      B3KQ89, Q96H35
      Related
      ENSP00000409315.2, ENST00000417201.4
      Conserved Domains (2) summary
      TIGR01648
      Location:26 → 189
      hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family
      cd12355
      Location:26 → 105
      RRM_RBM18; RNA recognition motif (RRM) found in eukaryotic RNA-binding protein 18 and similar proteins

    RNA

    1. NR_027125.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK310008, AL162424, AL389986, BP870502, CA314508, DA308339

    2. NR_027126.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK310807, AL162424, AL389986, BP870502, CA314508, DA308339

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      122237622..122264840 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      134435123..134462358 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96H35.1 GenPept UniProtKB/Swiss-Prot:Q96H35

    Gene LinkOut

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

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