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    LONRF3 LON peptidase N-terminal domain and ring finger 3 [ Homo sapiens (human) ]

    Gene ID: 79836, updated on 2-Nov-2024

    Summary

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    Official Symbol
    LONRF3provided by HGNC
    Official Full Name
    LON peptidase N-terminal domain and ring finger 3provided by HGNC
    Primary source
    HGNC:HGNC:21152
    See related
    Ensembl:ENSG00000175556 AllianceGenome:HGNC:21152
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RNF127
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 3.2), liver (RPKM 3.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LONRF3 in Genome Data Viewer
    Location:
    Xq24
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (118974614..119018355)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (117352354..117396078)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (118108577..118152318)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1285 Neighboring gene AKR7A2P pseudogene 1 Neighboring gene COBL pseudogene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:118125886-118127085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20952 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:118174593-118175792 Neighboring gene KIAA1210 Neighboring gene cancer/testis antigen family 47 member C1

    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. Does this have a familiar RING? Saurin AJ, et al. Trends Biochem Sci, 1996 Jun. PMID 8744354
    2. Induction of IL-17 and nonclassical T-cell activation by HIV-Tat protein. Johnson TP, et al. Proc Natl Acad Sci U S A, 2013 Aug 13. PMID 23898208, Free PMC Article
    3. A comprehensive resource of interacting protein regions for refining human transcription factor networks. Miyamoto-Sato E, et al. PLoS One, 2010 Feb 24. PMID 20195357, Free PMC Article
    4. High-resolution photocatalytic mapping of SARS-CoV-2 spike interactions on the cell surface. Datta S, et al. Cell Chem Biol, 2023 Oct 19. PMID 37499664
    5. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat downregulates the expression of LON peptidase N-terminal domain and ring finger 3 (LONRF3) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22612, MGC119463, MGC119465

    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
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    LON peptidase N-terminal domain and RING finger protein 3
    Names
    ring finger protein 127

    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.

    Genomic

    1. NG_012577.1 RefSeqGene

      Range
      4869..48606
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001031855.3 → NP_001027026.1  LON peptidase N-terminal domain and RING finger protein 3 isoform 1

      See identical proteins and their annotated locations for NP_001027026.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK290198, BC100671, DA249558
      Consensus CDS
      CCDS35374.1
      UniProtKB/Swiss-Prot
      Q496Y0, Q5JPN6, Q8NB00, Q9H647
      UniProtKB/TrEMBL
      A8K2D3
      Related
      ENSP00000360690.3, ENST00000371628.8
      Conserved Domains (6) summary
      cd00162
      Location:466 → 505
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cl19481
      Location:566 → 744
      LON; Found in ATP-dependent protease La (LON)
      sd00006
      Location:243 → 271
      TPR; TPR repeat [structural motif]
      pfam02190
      Location:555 → 756
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
      pfam13414
      Location:242 → 308
      TPR_11; TPR repeat
      cl17238
      Location:158 → 195
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    2. NM_001289109.1 → NP_001276038.1  LON peptidase N-terminal domain and RING finger protein 3 isoform 3

      See identical proteins and their annotated locations for NP_001276038.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding region, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This results in a protein (isoform 3) which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK097641, AK290198, AL772284, BC098283
      Consensus CDS
      CCDS76014.1
      UniProtKB/TrEMBL
      B3KUN7
      Related
      ENSP00000408894.2, ENST00000422289.3
      Conserved Domains (3) summary
      cd00162
      Location:210 → 249
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cl19481
      Location:300 → 488
      LON; Found in ATP-dependent protease La (LON)
      pfam02190
      Location:299 → 500
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain

    3. NM_024778.5 → NP_079054.3  LON peptidase N-terminal domain and RING finger protein 3 isoform 2

      See identical proteins and their annotated locations for NP_079054.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      AK290198, BC103491, DA249558
      Consensus CDS
      CCDS14575.1
      UniProtKB/TrEMBL
      A8K2D3
      Related
      ENSP00000307732.7, ENST00000304778.11
      Conserved Domains (6) summary
      cd00162
      Location:425 → 464
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cl19481
      Location:525 → 703
      LON; Found in ATP-dependent protease La (LON)
      sd00006
      Location:243 → 271
      TPR; TPR repeat [structural motif]
      pfam02190
      Location:514 → 715
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
      pfam13414
      Location:242 → 308
      TPR_11; TPR repeat
      cl17238
      Location:158 → 195
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    RNA

    1. NR_110311.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate 3' splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK091777, AK290198, DA249558
      Related
      ENST00000481285.5

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      118974614..119018355
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262476.3 → XP_005262533.1  LON peptidase N-terminal domain and RING finger protein 3 isoform X1

      UniProtKB/TrEMBL
      A8K2D3
      Conserved Domains (6) summary
      cd00162
      Location:518 → 557
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cl19481
      Location:618 → 796
      LON; Found in ATP-dependent protease La (LON)
      sd00006
      Location:243 → 271
      TPR; TPR repeat [structural motif]
      pfam02190
      Location:607 → 808
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
      pfam13414
      Location:242 → 308
      TPR_11; TPR repeat
      cl17238
      Location:158 → 195
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    2. XM_047442517.1 → XP_047298473.1  LON peptidase N-terminal domain and RING finger protein 3 isoform X2

    3. XM_017029845.1 → XP_016885334.1  LON peptidase N-terminal domain and RING finger protein 3 isoform X4

    4. XM_011531398.3 → XP_011529700.1  LON peptidase N-terminal domain and RING finger protein 3 isoform X3

      Conserved Domains (6) summary
      cd00162
      Location:518 → 557
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cl19481
      Location:618 → 653
      LON; Found in ATP-dependent protease La (LON)
      sd00006
      Location:243 → 271
      TPR; TPR repeat [structural motif]
      pfam02190
      Location:607 → 650
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
      pfam13414
      Location:242 → 308
      TPR_11; TPR repeat
      cl17238
      Location:158 → 195
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    5. XM_047442518.1 → XP_047298474.1  LON peptidase N-terminal domain and RING finger protein 3 isoform X5

    6. XM_047442519.1 → XP_047298475.1  LON peptidase N-terminal domain and RING finger protein 3 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      117352354..117396078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327872.1 → XP_054183847.1  LON peptidase N-terminal domain and RING finger protein 3 isoform X1

    2. XM_054327873.1 → XP_054183848.1  LON peptidase N-terminal domain and RING finger protein 3 isoform X2

    3. XM_054327875.1 → XP_054183850.1  LON peptidase N-terminal domain and RING finger protein 3 isoform X4

    4. XM_054327874.1 → XP_054183849.1  LON peptidase N-terminal domain and RING finger protein 3 isoform X3

    5. XM_054327876.1 → XP_054183851.1  LON peptidase N-terminal domain and RING finger protein 3 isoform X5

    6. XM_054327877.1 → XP_054183852.1  LON peptidase N-terminal domain and RING finger protein 3 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q496Y0.1 GenPept UniProtKB/Swiss-Prot:Q496Y0

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