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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
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