RFPL1 Gene (Protein Coding)

Ret Finger Protein Like 1

GC22P029403
GIFtS:
32
See more...

Aliases for RFPL1 Gene

Aliases for RFPL1 Gene

  • Ret Finger Protein Like 1 2 3 5
  • RNF78 2 3 4
  • Ret Finger Protein-Like 1 3 4
  • RING Finger Protein 78 3 4
  • RFPL1L 4
  • RFPL1 5

External Ids for RFPL1 Gene

Previous GeneCards Identifiers for RFPL1 Gene

  • GC22P026530
  • GC22P028159
  • GC22P028153
  • GC22P028164
  • GC22P029834
  • GC22P029438

Summaries for RFPL1 Gene

GeneCards Summary for RFPL1 Gene

RFPL1 (Ret Finger Protein Like 1) is a Protein Coding gene. An important paralog of this gene is RFPL3.

UniProtKB/Swiss-Prot Summary for RFPL1 Gene

  • Negatively regulates the G2-M phase transition, possibly by promoting cyclin B1/CCNB1 and CDK1 proteasomal degradation and thereby preventing their accumulation during interphase.

Additional gene information for RFPL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RFPL1 Gene

Genomics for RFPL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for RFPL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH22J029401 Enhancer 0.5 Ensembl 250.7 -1.3 -1330 0.2 SPI1 ATF2 ATF1 ATF3 CREB1 ATF7 RFPL1 FJ601684-297 AP1B1 ENSG00000285697 L13304-023
GH22J029403 Enhancer 0.2 Ensembl 250.7 +0.7 670 0.2 RFPL1 HSALNG0134828 ENSG00000285697 NEFH L13304-023
GH22J029479 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE 11.8 +78.4 78352 3.2 TBP MNT IKZF1 MBD2 ZNF395 REST CTCF HCFC1 ZNF341 ZBTB33 NEFH ENSG00000282816 LOC107985541 THOC5 RFPL1 RASL10A NIPSNAP1 RF00017-3793 L13304-023
GH22J029470 Enhancer 0.9 ENCODE 12.6 +67.6 67560 1.1 ZBTB10 ETS1 ZNF217 CTCF ELF1 SIN3A REST TRIM22 SMAD4 SAP130 RFPL1 THOC5 RFPL1S NIPSNAP1 piR-52788 NEFH LOC107985541 L13304-023
GH22J029423 Promoter/Enhancer 0.6 EPDnew Ensembl 12.7 +20.3 20270 0.6 CBFA2T3 ENSG00000242156 AP1B1 RFPL1 RFPL1S THOC5 RFPL4AP6 NEFH L13304-023
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RFPL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RFPL1

Top Transcription factor binding sites by QIAGEN in the RFPL1 gene promoter:
  • AP-1
  • En-1
  • GATA-1
  • GCNF-2
  • LCR-F1
  • Lmo2
  • RFX1
  • ZID

Genomic Locations for RFPL1 Gene

Latest Assembly
chr22:29,403,031-29,442,490
(GRCh38/hg38)
Size:
39,460 bases
Orientation:
Plus strand

Previous Assembly
chr22:29,834,572-29,838,444
(GRCh37/hg19 by Entrez Gene)
Size:
3,873 bases
Orientation:
Plus strand

chr22:29,834,572-29,838,444
(GRCh37/hg19 by Ensembl)
Size:
3,873 bases
Orientation:
Plus strand

Genomic View for RFPL1 Gene

Genes around RFPL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RFPL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RFPL1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RFPL1 Gene

Proteins for RFPL1 Gene

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  • Protein details for RFPL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75677-RFPL1_HUMAN
    Recommended name:
    Ret finger protein-like 1
    Protein Accession:
    O75677
    Secondary Accessions:
    • Q6IC06
    • Q9UJ97

    Protein attributes for RFPL1 Gene

    Size:
    317 amino acids
    Molecular mass:
    35491 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAA09043.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA09044.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for RFPL1 Gene

Protein Expression for RFPL1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RFPL1 Gene

  • Phosphorylated by PKC and CDK1 (PubMed:20725088). The antiproliferative effect seems to be positively regulated by PKC phosphorylation and negatively by CDK1 phosphorylation (PubMed:20725088).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RFPL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RFPL1 Gene

Domains & Families for RFPL1 Gene

Gene Families for RFPL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RFPL1 Gene

InterPro:
Blocks:
  • Zn-finger, RING
  • Butyrophylin C-terminal DUF signature
  • SPRY-associated domain
ProtoNet:

Suggested Antigen Peptide Sequences for RFPL1 Gene

GenScript: Design optimal peptide antigens:
  • RING finger protein 78 (RFPL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75677

UniProtKB/Swiss-Prot:

RFPL1_HUMAN :
  • The B30.2/SPRY domain is required for the negative regulation of cell proliferation.
Domain:
  • The B30.2/SPRY domain is required for the negative regulation of cell proliferation.
genes like me logo Genes that share domains with RFPL1: view

Function for RFPL1 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for RFPL1 Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates the G2-M phase transition, possibly by promoting cyclin B1/CCNB1 and CDK1 proteasomal degradation and thereby preventing their accumulation during interphase.
GENATLAS Biochemistry:
ret finger protein-like 1,B box family

Phenotypes From GWAS Catalog for RFPL1 Gene

Gene Ontology (GO) - Molecular Function for RFPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IBA 21873635
GO:0005515 protein binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RFPL1: view
genes like me logo Genes that share phenotypes with RFPL1: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RFPL1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RFPL1 Gene

Localization for RFPL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFPL1 Gene

Cytoplasm. Nucleus. Note=A higher concentration is observed in the cytoplasm compared to the nucleus. {ECO:0000269 PubMed:20725088}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RFPL1 gene
Compartment Confidence
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RFPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IBA 21873635
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IBA 21873635
GO:0005737 cytoplasm IEA,IDA 20725088
genes like me logo Genes that share ontologies with RFPL1: view

Pathways & Interactions for RFPL1 Gene

PathCards logo

SuperPathways for RFPL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RFPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0008285 negative regulation of cell proliferation IDA 20725088
GO:0010972 negative regulation of G2/M transition of mitotic cell cycle IDA 20725088
GO:0016567 protein ubiquitination IEA --
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP 20725088
genes like me logo Genes that share ontologies with RFPL1: view

No data available for Pathways by source and SIGNOR curated interactions for RFPL1 Gene

Drugs & Compounds for RFPL1 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for RFPL1 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for RFPL1 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RFPL1

Alternative Splicing Database (ASD) splice patterns (SP) for RFPL1 Gene

No ASD Table

Relevant External Links for RFPL1 Gene

GeneLoc Exon Structure for
RFPL1

Expression for RFPL1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RFPL1 Gene

mRNA expression in normal human tissues for RFPL1 Gene
mRNA expression by BioGPS for RFPL1 GenemRNA expression by GTEx for RFPL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RFPL1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x8.3), Brain - Anterior cingulate cortex (BA24) (x6.7), Brain - Cortex (x6.4), and Brain - Nucleus accumbens (basal ganglia) (x4.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RFPL1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RFPL1

SOURCE GeneReport for Unigene cluster for RFPL1 Gene:

Hs.648249

mRNA Expression by UniProt/SwissProt for RFPL1 Gene:

O75677-RFPL1_HUMAN
Tissue specificity: Seems to be expressed in prostate and less abundantly in adult brain, fetal liver, and fetal kidney.

Evidence on tissue expression from TISSUES for RFPL1 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with RFPL1: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RFPL1 Gene

Orthologs for RFPL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RFPL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia RFPL3 30
  • 95.72 (n)
RFPL1 31
  • 72 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia -- 31
  • 56 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 39 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 36 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 31 (a)
 ManyToMany
Species where no ortholog for RFPL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for RFPL1 Gene

ENSEMBL:
Gene Tree for RFPL1 (if available)
TreeFam:
Gene Tree for RFPL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RFPL1: view image

Paralogs for RFPL1 Gene

Paralogs for RFPL1 Gene

(15) SIMAP similar genes for RFPL1 Gene using alignment to 1 proteins:

  • RFPL1_HUMAN
genes like me logo Genes that share paralogs with RFPL1: view

Variants for RFPL1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RFPL1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs16987627 - p.Trp94Arg
rs3804076 - p.Met127Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RFPL1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RFPL1 Gene

Variant ID Type Subtype PubMed ID
nsv1059994 CNV gain 25217958
nsv1060197 CNV gain 25217958
nsv1110864 OTHER inversion 24896259
nsv964618 CNV duplication 23825009
nsv979667 CNV duplication 23825009

Variation tolerance for RFPL1 Gene

Residual Variation Intolerance Score: 92.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.66; 97.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RFPL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RFPL1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RFPL1 Gene

Disorders for RFPL1 Gene

Additional Disease Information for RFPL1

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for RFPL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RFPL1 Gene

Publications for RFPL1 Gene

  1. Duplications on human chromosome 22 reveal a novel Ret Finger Protein-like gene family with sense and endogenous antisense transcripts. (PMID: 10508838) Seroussi E … Dumanski JP (Genome research 1999) 2 3 4 23
  2. Primate-specific RFPL1 gene controls cell-cycle progression through cyclin B1/Cdc2 degradation. (PMID: 20725088) Bonnefont J … Krause KH (Cell death and differentiation 2011) 3 4
  3. A genome-wide association study of carotid atherosclerosis in HIV-infected men. (PMID: 20009918) Shrestha S … Grunfeld C (AIDS (London, England) 2010) 3 41
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

ExternalLinks

View latest publications for RFPL1 gene in Mastermind

Products for RFPL1 Gene

Sources for RFPL1 Gene