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LRIF1 ligand dependent nuclear receptor interacting factor 1 [ Homo sapiens (human) ]

Gene ID: 55791, updated on 27-Nov-2024

Summary

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Official Symbol
LRIF1provided by HGNC
Official Full Name
ligand dependent nuclear receptor interacting factor 1provided by HGNC
Primary source
HGNC:HGNC:30299
See related
Ensembl:ENSG00000121931 MIM:615354; AllianceGenome:HGNC:30299
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
RIF1; FSHD3; HBiX1; C1orf103
Summary
Predicted to enable nuclear retinoic acid receptor binding activity. Involved in dosage compensation by inactivation of X chromosome. Located in centriolar satellite; chromosome, telomeric region; and nuclear lumen. Implicated in facioscapulohumeral muscular dystrophy 3. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 11.6), ovary (RPKM 5.5) and 24 other tissues See more
Orthologs
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Genomic context

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See LRIF1 in Genome Data Viewer
Location:
1p13.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (110874957..110963922, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (110888014..110978737, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (111489812..111506544, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nuclear receptor binding factor 2 pseudogene 3 Neighboring gene olfactory receptor family 11 subfamily I member 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1478 Neighboring gene Sharpr-MPRA regulatory region 4566 Neighboring gene CD53 molecule Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:111506132-111506668 Neighboring gene cyclin T2 pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 54

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
  • 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. SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action. Šikrová D, et al. Commun Biol, 2023 Jun 28. PMID 37380887, Free PMC Article
  2. LRIF1 interacts with HP1α to coordinate accurate chromosome segregation during mitosis. Akram S, et al. J Mol Cell Biol, 2018 Dec 1. PMID 30016453, Free PMC Article
  3. RIF-1, a novel nuclear receptor corepressor that associates with the nuclear matrix. Li HJ, et al. J Cell Biochem, 2007 Nov 1. PMID 17455211
  4. Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway. Nozawa RS, et al. Nat Struct Mol Biol, 2013 May. PMID 23542155
  5. Analysis of the human HP1 interactome reveals novel binding partners. Rosnoblet C, et al. Biochem Biophys Res Commun, 2011 Sep 23. PMID 21888893

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action.
    Title: SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action.
  2. LRIF1 interacts directly with HP1 alpha chromoshadow domain via an evolutionarily conserved PXVXL motif within its C-terminus. Importantly, the LRIF1-HP1 alpha interaction is critical for Aurora B activity in the inner centromere.
    Title: LRIF1 interacts with HP1α to coordinate accurate chromosome segregation during mitosis.
  3. Thus, the molecular network involving HBiX1 (previously termed C1orf103) and SMCHD1 links the H3K9me3 and XIST-H3K27me3 domains to organize the compact inactive X chromosome structure.
    Title: Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway.
  4. RIF1 is a novel nuclear matrix transcription repressor: a potential role of RIF1 regulation of nuclear receptor transcriptional activity.
    Title: RIF-1, a novel nuclear receptor corepressor that associates with the nuclear matrix.
Submit: New GeneRIF Correction

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

Associated conditions

Description Tests
Facioscapulohumeral muscular dystrophy 3, digenic
MedGen: C5561959 OMIM: 619477 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
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)

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of ligand dependent nuclear receptor interacting factor 1 (LRIF1; C1orf103) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl 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

  • FLJ11269

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables nuclear retinoic acid receptor binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in dosage compensation by inactivation of X chromosome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Barr body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
  
colocalizes_with chromosome, telomeric region IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear matrix IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
ligand-dependent nuclear receptor-interacting factor 1
Names
HP1-binding protein enriched in inactive X chromosome protein 1
receptor-interacting factor 1

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_001006945.2 → NP_001006946.1  ligand-dependent nuclear receptor-interacting factor 1 isoform 2

    See identical proteins and their annotated locations for NP_001006946.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an internal coding exon, compared to variant 1, and encodes a shorter predicted isoform (2) compared to isoform 1.
    Source sequence(s)
    AY190122, BQ787643, BU664417, CD686306
    Consensus CDS
    CCDS41366.1
    UniProtKB/Swiss-Prot
    Q5T3J3
    Related
    ENSP00000432290.1, ENST00000485275.2
    Conserved Domains (1) summary
    pfam15741
    Location:1 → 232
    LRIF1; Ligand-dependent nuclear receptor-interacting factor 1

  2. NM_018372.4 → NP_060842.3  ligand-dependent nuclear receptor-interacting factor 1 isoform 1

    See identical proteins and their annotated locations for NP_060842.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AY190122, BQ787643, BU192014
    Consensus CDS
    CCDS30800.1
    UniProtKB/Swiss-Prot
    Q5T3J3, Q86XS4, Q8N3B6, Q96HT4, Q9NUM5, Q9NV32
    Related
    ENSP00000358778.4, ENST00000369763.5
    Conserved Domains (1) summary
    pfam15741
    Location:28 → 768
    LRIF1; Ligand-dependent nuclear receptor-interacting factor 1

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    110874957..110963922 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001769.3 → XP_016857258.1  ligand-dependent nuclear receptor-interacting factor 1 isoform X2

  2. XM_005271029.5 → XP_005271086.1  ligand-dependent nuclear receptor-interacting factor 1 isoform X1

    Conserved Domains (1) summary
    pfam15741
    Location:28 → 767
    LRIF1; Ligand-dependent nuclear receptor-interacting factor 1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    110888014..110978737 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337632.1 → XP_054193607.1  ligand-dependent nuclear receptor-interacting factor 1 isoform X2

  2. XM_054337631.1 → XP_054193606.1  ligand-dependent nuclear receptor-interacting factor 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5T3J3.1 GenPept UniProtKB/Swiss-Prot:Q5T3J3

Gene LinkOut

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