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    RFPL4A ret finger protein like 4A [ Homo sapiens (human) ]

    Gene ID: 342931, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RFPL4Aprovided by HGNC
    Official Full Name
    ret finger protein like 4Aprovided by HGNC
    Primary source
    HGNC:HGNC:16449
    See related
    Ensembl:ENSG00000223638 MIM:612601; AllianceGenome:HGNC:16449
    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
    RFPL4; RNF210
    Summary
    Predicted to enable protein homodimerization activity; protein kinase binding activity; and ubiquitin protein ligase activity. Predicted to be involved in several processes, including positive regulation of autophagy; positive regulation of canonical NF-kappaB signal transduction; and regulation of viral entry into host cell. Predicted to be located in female germ cell nucleus. Predicted to be active in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See RFPL4A in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55757294..55763421)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58856647..58862774)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (56270463..56274787)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NLR family pyrin domain containing 9 Neighboring gene RN7SK pseudogene 109 Neighboring gene uncharacterized LOC105372465 Neighboring gene ret finger protein like 4A like 1 Neighboring gene ret finger protein like 4A pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. RFPL4A increases the G1 population and decreases sensitivity to chemotherapy in human colorectal cancer cells. Naito A, et al. J Biol Chem, 2015 Mar 6. PMID 25605732, Free PMC Article
    2. Structure of the PRYSPRY-domain: implications for autoinflammatory diseases. Grütter C, et al. FEBS Lett, 2006 Jan 9. PMID 16364311
    3. The ret finger protein-like 4 gene, Rfpl4, encodes a putative E3 ubiquitin-protein ligase expressed in adult germ cells. Rajkovic A, et al. Mech Dev, 2002 Mar. PMID 11850190
    4. Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. GENDEP Investigators, et al. Am J Psychiatry, 2013 Feb. PMID 23377640, Free PMC Article
    5. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These results indicate that RFPL4A is a novel factor that increases the G1 population and decreases sensitivity to chemotherapy and thus may be a promising therapeutic target for refractory tumor conditions.
      Title: RFPL4A increases the G1 population and decreases sensitivity to chemotherapy in human colorectal cancer cells.
    2. 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.
    3. The ret finger protein-like 4 gene, Rfpl4, encodes a putative E3 ubiquitin-protein ligase expressed in adult germ cells.
      Title: The ret finger protein-like 4 gene, Rfpl4, encodes a putative E3 ubiquitin-protein ligase expressed in adult germ cells.
    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

    EBI GWAS Catalog

    Description
    Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
    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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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ret finger protein-like 4A
    Names
    RING finger protein 210
    ret finger protein-like 4

    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_001145014.2 → NP_001138486.1  ret finger protein-like 4A

      See identical proteins and their annotated locations for NP_001138486.1

      Status: VALIDATED

      Source sequence(s)
      AC008749
      Consensus CDS
      CCDS46201.1
      UniProtKB/Swiss-Prot
      A6NLU0
      Related
      ENSP00000392936.2, ENST00000434937.3
      Conserved Domains (3) summary
      pfam11002
      Location:54 → 95
      RDM; RFPL defining motif (RDM)
      pfam15227
      Location:11 → 52
      zf-C3HC4_4; zinc finger of C3HC4-type, RING
      cd15821
      Location:93 → 270
      SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      55757294..55763421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526915.4 → XP_011525217.1  ret finger protein-like 4A isoform X1

      Conserved Domains (3) summary
      pfam11002
      Location:111 → 152
      RDM; RFPL defining motif (RDM)
      pfam15227
      Location:68 → 109
      zf-C3HC4_4; zinc finger of C3HC4-type, RING
      cd15821
      Location:150 → 327
      SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58856647..58862774
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320848.1 → XP_054176823.1  ret finger protein-like 4A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NLU0.3 GenPept UniProtKB/Swiss-Prot:A6NLU0

    Gene LinkOut

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

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