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

Gene ID: 91694, updated on 28-Oct-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, Oct 2024]
Expression
Ubiquitous expression in skin (RPKM 19.9), fat (RPKM 10.6) and 25 other tissues See more
Orthologs
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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)

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

  • 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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