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    RNF113B ring finger protein 113B [ Homo sapiens (human) ]

    Gene ID: 140432, updated on 27-Aug-2024

    Summary

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    Official Symbol
    RNF113Bprovided by HGNC
    Official Full Name
    ring finger protein 113Bprovided by HGNC
    Primary source
    HGNC:HGNC:17267
    See related
    Ensembl:ENSG00000139797 AllianceGenome:HGNC:17267
    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
    RNF161; ZNF183L1; bA10G5.1
    Summary
    Predicted to enable metal ion binding activity. Predicted to be involved in snoRNA splicing. Predicted to be part of U2-type spliceosomal complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 23.9) See more
    Orthologs
    all
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    Genomic context

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    Location:
    13q32.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (98175785..98177269, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (97383154..97384638, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (98828039..98829523, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene importin 5 Neighboring gene ferritin light chain pseudogene 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:98713754-98714350 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:98716143-98716738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:98716739-98717336 Neighboring gene uncharacterized LOC105370328 Neighboring gene uncharacterized LOC107984566 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5456 Neighboring gene Sharpr-MPRA regulatory region 2492 Neighboring gene FERM, ARH/RhoGEF and pleckstrin domain protein 1 Neighboring gene Sharpr-MPRA regulatory region 10209 Neighboring gene RN7SK pseudogene 8 Neighboring gene microRNA 3170

    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. Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. Goldstein JI, et al. Nat Commun, 2014 Sep 4. PMID 25187353, Free PMC Article
    2. A comprehensive framework of E2-RING E3 interactions of the human ubiquitin-proteasome system. van Wijk SJ, et al. Mol Syst Biol, 2009. PMID 19690564, Free PMC Article
    3. Analysis of the human E2 ubiquitin conjugating enzyme protein interaction network. Markson G, et al. Genome Res, 2009 Oct. PMID 19549727, Free PMC Article
    4. The DNA sequence and analysis of human chromosome 13. Dunham A, et al. Nature, 2004 Apr 1. PMID 15057823, Free PMC Article
    5. MKRN2 Physically Interacts with GLE1 to Regulate mRNA Export and Zebrafish Retinal Development. Wolf EJ, et al. Cell Rep, 2020 May 26. PMID 32460013

    See all (10) 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

    EBI GWAS Catalog

    Description
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    EBI GWAS Catalog

    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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    Homology

    Clone Names

    • MGC26599

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in snoRNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of U2-type spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    RING finger protein 113B
    Names
    zinc finger protein 183-like 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_178861.5 → NP_849192.1  RING finger protein 113B

      See identical proteins and their annotated locations for NP_849192.1

      Status: VALIDATED

      Source sequence(s)
      AI935007, AL136300, BC017585
      Consensus CDS
      CCDS9486.1
      UniProtKB/Swiss-Prot
      Q8IZP6, Q8WWF9, Q96QY9
      Related
      ENSP00000267291.6, ENST00000267291.7
      Conserved Domains (3) summary
      COG5152
      Location:174 → 313
      COG5152; Uncharacterized conserved protein, contains RING and CCCH-type Zn-fingers [General function prediction only]
      pfam00642
      Location:191 → 217
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      pfam13923
      Location:256 → 293
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      98175785..98177269 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      97383154..97384638 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZP6.3 GenPept UniProtKB/Swiss-Prot:Q8IZP6

    Gene LinkOut

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

    Chemical Information
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