The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Multiple alternatively spliced transcript variants have been suggested, but their full length natures are not clear. [provided by RefSeq, Jul 2008] See more...

Aliases for LONRF3 Gene

Aliases for LONRF3 Gene

  • LON Peptidase N-Terminal Domain And Ring Finger 3 2 3 5
  • LON Peptidase N-Terminal Domain And RING Finger Protein 3 3 4
  • Ring Finger Protein 127 2 3
  • RNF127 3 4
  • RING Finger Protein 127 4

External Ids for LONRF3 Gene

Previous HGNC Symbols for LONRF3 Gene

  • RNF127

Previous GeneCards Identifiers for LONRF3 Gene

  • GC0XP117891
  • GC0XP117992
  • GC0XP118108
  • GC0XP107601

Summaries for LONRF3 Gene

Entrez Gene Summary for LONRF3 Gene

  • The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Multiple alternatively spliced transcript variants have been suggested, but their full length natures are not clear. [provided by RefSeq, Jul 2008]

GeneCards Summary for LONRF3 Gene

LONRF3 (LON Peptidase N-Terminal Domain And Ring Finger 3) is a Protein Coding gene. Diseases associated with LONRF3 include Cleft Palate With Or Without Ankyloglossia, X-Linked and Ankyloglossia With Or Without Tooth Anomalies. Gene Ontology (GO) annotations related to this gene include ATP-dependent peptidase activity. An important paralog of this gene is LONRF2.

Additional gene information for LONRF3 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LONRF3 Gene

Genomics for LONRF3 Gene

GeneHancer (GH) Regulatory Elements for LONRF3 Gene

Promoters and enhancers for LONRF3 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
GH0XJ118973 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.1 1087 4.6 EP300 NRF1 POLR2G USF1 ZNF639 ZNF10 ZIC2 POLR2A ZBTB11 ZNF423 LONRF3 RF00017-8643 RF00017-8640
GH0XJ119014 Enhancer 1.2 FANTOM5 Ensembl ENCODE 19.6 +40.8 40787 3.6 ZNF217 JUND EP300 REST RFX1 RELA ZNF740 CTBP1 BCL11A ESRRA LONRF3 RF00017-8644 piR-47162-194 RF00017-8640
GH0XJ118723 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.3 -247.1 -247140 7.9 EP300 ZNF217 NRF1 TCF12 POLR2G NCOR1 PHF8 FOS ZFX ZIC2 IL13RA1 lnc-KIAA1210-7 LONRF3 DOCK11 ZCCHC12 lnc-DOCK11-3
GH0XJ119039 Enhancer 1 FANTOM5 ENCODE 21.7 +66.4 66360 3.1 NCOR1 JUND FOS TRIM28 CTBP1 SKI JUN ATF2 NR2F2 ESRRA piR-50444-505 LONRF3 KIAA1210 LOC727838 RF00017-8640
GH0XJ118527 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 19.6 -445.3 -445268 4.4 ZBTB40 ZSCAN5C POLR2A WT1 CBFB ZNF384 CEBPG IRF1 ELF1 ZBTB48 LONRF3 DOCK11 IL13RA1 ENSG00000206862
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LONRF3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LONRF3

Top Transcription factor binding sites by QIAGEN in the LONRF3 gene promoter:
  • GATA-1
  • ITF-2
  • Lmo2
  • MIF-1
  • Pax-5
  • STAT1
  • STAT1alpha
  • STAT1beta
  • Tal-1beta

Genomic Locations for LONRF3 Gene

Genomic Locations for LONRF3 Gene
chrX:118,974,614-119,018,856
(GRCh38/hg38)
Size:
44,243 bases
Orientation:
Plus strand
chrX:118,108,581-118,152,318
(GRCh37/hg19)
Size:
43,738 bases
Orientation:
Plus strand

Genomic View for LONRF3 Gene

Genes around LONRF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LONRF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LONRF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LONRF3 Gene

Proteins for LONRF3 Gene

  • Protein details for LONRF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q496Y0-LONF3_HUMAN
    Recommended name:
    LON peptidase N-terminal domain and RING finger protein 3
    Protein Accession:
    Q496Y0
    Secondary Accessions:
    • Q5JPN6
    • Q8NB00
    • Q9H647

    Protein attributes for LONRF3 Gene

    Size:
    759 amino acids
    Molecular mass:
    84490 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15419.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for LONRF3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LONRF3 Gene

Post-translational modifications for LONRF3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LONRF3 Gene

Domains & Families for LONRF3 Gene

Gene Families for LONRF3 Gene

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

Suggested Antigen Peptide Sequences for LONRF3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ40322 fis, clone TESTI2030917, highly similar to Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA (B3KUN7_HUMAN)
  • RING finger protein 127 (LONF3_HUMAN)
  • LON peptidase N-terminal domain and ring finger 3 (Q5JPN5_HUMAN)
genes like me logo Genes that share domains with LONRF3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LONRF3 Gene

Function for LONRF3 Gene

Phenotypes From GWAS Catalog for LONRF3 Gene

Gene Ontology (GO) - Molecular Function for LONRF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20195357
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with LONRF3: view
genes like me logo Genes that share phenotypes with LONRF3: view

Animal Models for LONRF3 Gene

MGI Knock Outs for LONRF3:
  • Lonrf3 Lonrf3<tm1a(KOMP)Wtsi>
  • Lonrf3 Lonrf3<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for LONRF3 Gene

miRTarBase miRNAs that target LONRF3

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LONRF3 Gene

Localization for LONRF3 Gene

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 LONRF3 gene
Compartment Confidence
nucleus 4
plasma membrane 2
cytosol 2

Subcellular locations from the

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for LONRF3 Gene

Pathways & Interactions for LONRF3 Gene

PathCards logo

SuperPathways for LONRF3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LONRF3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LONRF3 Gene

Drugs & Compounds for LONRF3 Gene

No Compound Related Data Available

Transcripts for LONRF3 Gene

mRNA/cDNA for LONRF3 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LONRF3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
SP1: -
SP2: - -
SP3: - - -
SP4: - - - -

Relevant External Links for LONRF3 Gene

GeneLoc Exon Structure for
LONRF3

Expression for LONRF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LONRF3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LONRF3 Gene

This gene is overexpressed in Muscle - Skeletal (x4.5).

Protein differential expression in normal tissues from HIPED for LONRF3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (53.0) and Fetal Brain (14.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LONRF3 Gene



Protein tissue co-expression partners for LONRF3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LONRF3

SOURCE GeneReport for Unigene cluster for LONRF3 Gene:

Hs.144266

Evidence on tissue expression from TISSUES for LONRF3 Gene

  • Lung(4.2)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with LONRF3: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LONRF3 Gene

Orthologs for LONRF3 Gene

This gene was present in the common ancestor of animals.

Orthologs for LONRF3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LONRF3 31 30
  • 99.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LONRF3 31 30
  • 87.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LONRF3 31 30
  • 85.7 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lonrf3 30
  • 83.55 (n)
mouse
(Mus musculus)
Mammalia Lonrf3 17 31 30
  • 83.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LONRF3 31
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LONRF3 31
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves LONRF3 31 30
  • 66.87 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LONRF3 31
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lonrf3 30
  • 60.71 (n)
zebrafish
(Danio rerio)
Actinopterygii lonrf1 31
  • 36 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32369 31
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 17 (a)
OneToMany
Cin.6568 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6568 30
Species where no ortholog for LONRF3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LONRF3 Gene

ENSEMBL:
Gene Tree for LONRF3 (if available)
TreeFam:
Gene Tree for LONRF3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LONRF3: view image

Paralogs for LONRF3 Gene

Paralogs for LONRF3 Gene

(4) SIMAP similar genes for LONRF3 Gene using alignment to 3 proteins:

  • LONF3_HUMAN
  • B3KUN7_HUMAN
  • H0Y7Q8_HUMAN
genes like me logo Genes that share paralogs with LONRF3: view

Variants for LONRF3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LONRF3 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs61730253 A breast cancer sample p.Ala122Gly

Additional dbSNP identifiers (rs#s) for LONRF3 Gene

Structural Variations from Database of Genomic Variants (DGV) for LONRF3 Gene

Variant ID Type Subtype PubMed ID
esv2740424 CNV deletion 23290073

Variation tolerance for LONRF3 Gene

Residual Variation Intolerance Score: 20.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.76; 33.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LONRF3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LONRF3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LONRF3 Gene

Disorders for LONRF3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for LONRF3 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LONRF3

genes like me logo Genes that share disorders with LONRF3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LONRF3 Gene

Publications for LONRF3 Gene

  1. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for LONRF3 Gene

Sources for LONRF3 Gene