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    MEX3C mex-3 RNA binding family member C [ Homo sapiens (human) ]

    Gene ID: 51320, updated on 17-Jun-2019

    Summary

    Official Symbol
    MEX3Cprovided by HGNC
    Official Full Name
    mex-3 RNA binding family member Cprovided by HGNC
    Primary source
    HGNC:HGNC:28040
    See related
    Ensembl:ENSG00000176624 MIM:611005
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RKHD2; BM-013; MEX-3C; RNF194
    Summary
    This gene encodes a member of a family of proteins with two K homology (KH) RNA-binding domains and a C-terminal RING-finger domain. The protein interacts with mRNA via the KH domains, and the protein shuttles between the nucleus and cytoplasm. Polymorphisms in this gene may contribute to hypertension. [provided by RefSeq, Oct 2009]
    Expression
    Broad expression in testis (RPKM 32.6), lymph node (RPKM 11.1) and 24 other tissues See more
    Orthologs

    Genomic context

    See MEX3C in Genome Data Viewer
    Location:
    18q21.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (51174550..51197681, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (48700920..48724051, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372117 Neighboring gene SMAD family member 4 Neighboring gene serine and arginine rich splicing factor 10 pseudogene 1 Neighboring gene uncharacterized LOC105372118 Neighboring gene RNA, U1 small nuclear 46, pseudogene Neighboring gene long intergenic non-protein coding RNA 1630 Neighboring gene SS18 like 2 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.
    NHGRI GWA Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
      Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ38871

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    chondrocyte hypertrophy IEA
    Inferred from Electronic Annotation
    more info
     
    energy homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    RNA-binding E3 ubiquitin-protein ligase MEX3C
    Names
    MEX3C variant 1
    MEX3C variant 2
    RING finger and KH domain-containing protein 2
    RING finger protein 194
    RING-type E3 ubiquitin transferase MEX3C
    RNA-binding protein MEX3C
    ring finger and KH domain containing 2
    NP_057710.3

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_015801.1 RefSeqGene

      Range
      5001..28132
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016626.5NP_057710.3  RNA-binding E3 ubiquitin-protein ligase MEX3C

      See identical proteins and their annotated locations for NP_057710.3

      Status: REVIEWED

      Source sequence(s)
      AC090330, AY950679, BC063244
      Consensus CDS
      CCDS11951.2
      UniProtKB/Swiss-Prot
      Q5U5Q3
      Related
      ENSP00000385610.3, ENST00000406189.4
      Conserved Domains (3) summary
      smart00322
      Location:326391
      KH; K homology RNA-binding domain
      cd00105
      Location:233294
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      pfam13920
      Location:608653
      zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

      Range
      51174550..51197681 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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