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    RFPL1 ret finger protein like 1 [ Homo sapiens (human) ]

    Gene ID: 5988, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RFPL1provided by HGNC
    Official Full Name
    ret finger protein like 1provided by HGNC
    Primary source
    HGNC:HGNC:9977
    See related
    Ensembl:ENSG00000128250 MIM:605968; AllianceGenome:HGNC:9977
    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
    RNF78
    Summary
    Predicted to enable protein homodimerization activity; protein kinase binding activity; and ubiquitin protein ligase activity. Involved in several processes, including negative regulation of G2/M transition of mitotic cell cycle; negative regulation of cell division; and positive regulation of proteolysis. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 3.4), testis (RPKM 1.0) and 3 other tissues See more
    Orthologs
    all
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    Genomic context

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    See RFPL1 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (29387909..29442455)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (29851316..29905831)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29783898..29838444)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29710073-29710877 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29710878-29711682 Neighboring gene RAS like family 10 member A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29726349-29727305 Neighboring gene small nucleolar RNA, C/D box 125 Neighboring gene adaptor related protein complex 1 subunit beta 1 Neighboring gene uncharacterized LOC102723305 Neighboring gene ret finger protein like 4A pseudogene 6 Neighboring gene RFPL1 antisense RNA 1 Neighboring gene uncharacterized LOC107985541 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29856012-29856563 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29859341-29859868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29859869-29860396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29866133-29866633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29874167-29874668 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29877229-29878083 Neighboring gene neurofilament heavy chain

    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. Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development. Bonnefont J, et al. Am J Hum Genet, 2008 Aug. PMID 18656177, Free PMC Article
    2. Duplications on human chromosome 22 reveal a novel Ret Finger Protein-like gene family with sense and endogenous antisense transcripts. Seroussi E, et al. Genome Res, 1999 Sep. PMID 10508838
    3. Primate-specific RFPL1 gene controls cell-cycle progression through cyclin B1/Cdc2 degradation. Bonnefont J, et al. Cell Death Differ, 2011 Feb. PMID 20725088, Free PMC Article
    4. A genome-wide association study of carotid atherosclerosis in HIV-infected men. Shrestha S, et al. AIDS, 2010 Feb 20. PMID 20009918, Free PMC Article
    5. A genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. hRFPL1 antiproliferative activity led to an increased cell population in G(2)/M phase and specific cyclin B1 and Cdc2 downregulations.
      Title: Primate-specific RFPL1 gene controls cell-cycle progression through cyclin B1/Cdc2 degradation.
    2. the human RFPL1,2,3 genes have a role in neocortex development
      Title: Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development.
    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
    A genome-wide association study of carotid atherosclerosis in HIV-infected men.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC132428

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein homodimerization activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 negative regulation of G2/M transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cell division IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of autophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of canonical NF-kappaB signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of viral entry into host cell 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
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ret finger protein-like 1
    Names
    RING finger protein 78

    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_001393612.1 → NP_001380541.1  ret finger protein-like 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC000041, AC002059
      UniProtKB/TrEMBL
      Q6NSX6
      Conserved Domains (3) summary
      cd15821
      Location:93 → 270
      SPRY_PRY_RFPL; Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4
      cd16621
      Location:10 → 53
      vRING-HC-C4C4_RFPL1_like; Variant RING finger, HC subclass (C4C4-type), found in Ret finger protein-like (RFPL) family
      pfam11002
      Location:54 → 95
      RDM; RFPL defining motif (RDM)

    2. NM_021026.2 → NP_066306.2  ret finger protein-like 1 isoform 1

      See identical proteins and their annotated locations for NP_066306.2

      Status: VALIDATED

      Source sequence(s)
      AC000041, CR456562
      Consensus CDS
      CCDS13857.2
      UniProtKB/Swiss-Prot
      O75677, Q6IC06, Q9UJ97
      UniProtKB/TrEMBL
      Q6NSX6
      Related
      ENSP00000346342.2, ENST00000354373.2
      Conserved Domains (3) summary
      pfam11002
      Location:83 → 124
      RDM; RFPL defining motif (RDM)
      pfam15227
      Location:40 → 81
      zf-C3HC4_4; zinc finger of C3HC4-type, RING
      cd15821
      Location:122 → 299
      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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      29387909..29442455
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      29851316..29905831
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75677.2 GenPept UniProtKB/Swiss-Prot:O75677

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
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