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    LONRF1 LON peptidase N-terminal domain and ring finger 1 [ Homo sapiens (human) ]

    Gene ID: 91694, updated on 2-Nov-2024

    Summary

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    Official Symbol
    LONRF1provided by HGNC
    Official Full Name
    LON peptidase N-terminal domain and ring finger 1provided by HGNC
    Primary source
    HGNC:HGNC:26302
    See related
    Ensembl:ENSG00000154359 AllianceGenome:HGNC:26302
    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
    RNF191
    Summary
    Predicted to enable ubiquitin protein ligase activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in skin (RPKM 19.9), fat (RPKM 10.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LONRF1 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (12721906..12755526, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (12988035..13021657, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (12579415..12613035, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 7 subfamily E member 10 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27042 Neighboring gene microRNA 5692a-2 Neighboring gene microRNA 3926-1 Neighboring gene microRNA 3926-2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18951 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:12612250-12612440 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:12612509-12613328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27043 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27045 Neighboring gene long intergenic non-protein coding RNA 3019 Neighboring gene NANOG hESC enhancer GRCh37_chr8:12651516-12652033 Neighboring gene long intergenic non-protein coding RNA 681 Neighboring gene uncharacterized LOC105379289 Neighboring gene NANOG hESC enhancer GRCh37_chr8:12726438-12727079

    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. Comparative FISH-mapping of twelve loci in river buffalo and sheep chromosomes: comparison with HSA8p and HSA4q. Perucatti A, et al. Cytogenet Genome Res, 2007. PMID 18253036
    2. Genome-wide diet-gene interaction analyses for risk of colorectal cancer. Figueiredo JC, et al. PLoS Genet, 2014 Apr. PMID 24743840, Free PMC Article
    3. FBXL13 directs the proteolysis of CEP192 to regulate centrosome homeostasis and cell migration. Fung E, et al. EMBO Rep, 2018 Mar. PMID 29348145, Free PMC Article
    4. Direct and indirect control of mitogen-activated protein kinase pathway-associated components, BRAP/IMP E3 ubiquitin ligase and CRAF/RAF1 kinase, by the deubiquitylating enzyme USP15. Hayes SD, et al. J Biol Chem, 2012 Dec 14. PMID 23105109, Free PMC Article
    5. Oncogenic functions of protein kinase D2 and D3 in regulating multiple cancer-related pathways in breast cancer. Liu Y, et al. Cancer Med, 2019 Feb. PMID 30652415, Free PMC Article

    See all (22) 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

    EBI GWAS Catalog

    Description
    Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23749

    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 cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    LON peptidase N-terminal domain and RING finger protein 1
    Names
    RING finger protein 191

    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_001329976.2 → NP_001316905.1  LON peptidase N-terminal domain and RING finger protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC123777
      UniProtKB/TrEMBL
      A0AAG2TK99
      Conserved Domains (5) summary
      cd00162
      Location:467 → 509
      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:553 → 754
      LON; Found in ATP-dependent protease La (LON)
      sd00006
      Location:247 → 273
      TPR; TPR repeat [structural motif]
      pfam02190
      Location:556 → 754
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
      pfam13432
      Location:251 → 311
      TPR_16; Tetratricopeptide repeat

    2. NM_152271.5 → NP_689484.3  LON peptidase N-terminal domain and RING finger protein 1 isoform 1

      See identical proteins and their annotated locations for NP_689484.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC123777
      Consensus CDS
      CCDS5987.2
      UniProtKB/Swiss-Prot
      B4DM29, B4DU84, Q17RB8, Q8TEA0, Q9BSV1
      UniProtKB/TrEMBL
      A0AAG2TK99
      Related
      ENSP00000381298.3, ENST00000398246.8
      Conserved Domains (5) summary
      cd00162
      Location:478 → 520
      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:564 → 765
      LON; Found in ATP-dependent protease La (LON)
      sd00006
      Location:247 → 273
      TPR; TPR repeat [structural motif]
      pfam02190
      Location:567 → 765
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
      pfam13432
      Location:251 → 311
      TPR_16; Tetratricopeptide repeat

    RNA

    1. NR_138255.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon 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)
      AC123777

    2. NR_138256.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction and lacks an alternate exon 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)
      AC123777

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      12721906..12755526 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422414.1 → XP_047278370.1  LON peptidase N-terminal domain and RING finger protein 1 isoform X2

    2. XM_011544694.4 → XP_011542996.1  LON peptidase N-terminal domain and RING finger protein 1 isoform X1

      Conserved Domains (5) summary
      cd00162
      Location:247 → 289
      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:333 → 534
      LON; Found in ATP-dependent protease La (LON)
      sd00006
      Location:13 → 43
      TPR; TPR repeat [structural motif]
      pfam02190
      Location:336 → 534
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
      pfam13432
      Location:20 → 80
      TPR_16; Tetratricopeptide repeat

    3. XM_047422415.1 → XP_047278371.1  LON peptidase N-terminal domain and RING finger protein 1 isoform X3

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      5917253..5950889 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332279.1 → XP_054188254.1  LON peptidase N-terminal domain and RING finger protein 1 isoform X2

    2. XM_054332278.1 → XP_054188253.1  LON peptidase N-terminal domain and RING finger protein 1 isoform X1

    3. XM_054332280.1 → XP_054188255.1  LON peptidase N-terminal domain and RING finger protein 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      12988035..13021657 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361496.1 → XP_054217471.1  LON peptidase N-terminal domain and RING finger protein 1 isoform X2

    2. XM_054361495.1 → XP_054217470.1  LON peptidase N-terminal domain and RING finger protein 1 isoform X1

    3. XM_054361497.1 → XP_054217472.1  LON peptidase N-terminal domain and RING finger protein 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q17RB8.2 GenPept UniProtKB/Swiss-Prot:Q17RB8

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