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LRR1 leucine rich repeat protein 1 [ Homo sapiens (human) ]

Gene ID: 122769, updated on 5-Mar-2024

Summary

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Official Symbol
LRR1provided by HGNC
Official Full Name
leucine rich repeat protein 1provided by HGNC
Primary source
HGNC:HGNC:19742
See related
Ensembl:ENSG00000165501 MIM:609193; AllianceGenome:HGNC:19742
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
LRR-1; PPIL5; 4-1BBLRR
Summary
The protein encoded by this gene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression of this gene suppresses the activation of NF-kappa B induced by TNFRSF9 or TNF receptor-associated factor 2 (TRAF2), which suggests that this protein is a negative regulator of TNFRSF9-mediated signaling cascades. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
Expression
Broad expression in testis (RPKM 19.8), bone marrow (RPKM 6.1) and 21 other tissues See more
Orthologs
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Genomic context

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Location:
14q21.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (49598940..49614672)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (43797191..43812899)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50065658..50081390)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein S29 Neighboring gene ribosomal protein L32 pseudogene 29 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8309 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:50049568-50050079 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:50050080-50050590 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:50050591-50051102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8310 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50053149-50053658 Neighboring gene RNA component of signal recognition particle 7SL1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8314 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50065755-50066525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5696 Neighboring gene ras homolog family member Q pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5697 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50087617-50088167 Neighboring gene ribosomal protein L36a like Neighboring gene alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

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. LRR1-mediated replisome disassembly promotes DNA replication by recycling replisome components. Fan Y, et al. J Cell Biol, 2021 Aug 2. PMID 34037657, Free PMC Article
  2. A novel leucine-rich repeat protein (LRR-1): potential involvement in 4-1BB-mediated signal transduction. Jang LK, et al. Mol Cells, 2001 Dec 31. PMID 11804328
  3. CRL2(LRR-1) targets a CDK inhibitor for cell cycle control in C. elegans and actin-based motility regulation in human cells. Starostina NG, et al. Dev Cell, 2010 Nov 16. PMID 21074724, Free PMC Article
  4. PTPN14 is required for the density-dependent control of YAP1. Wang W, et al. Genes Dev, 2012 Sep 1. PMID 22948661, Free PMC Article
  5. Reconstitution of human CMG helicase ubiquitylation by CUL2LRR1 and multiple E2 enzymes. Le TT, et al. Biochem J, 2021 Jul 30. PMID 34195792, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LRR1-mediated replisome disassembly promotes DNA replication by recycling replisome components.
    Title: LRR1-mediated replisome disassembly promotes DNA replication by recycling replisome components.
  2. Results identify the CRL2(LRR-1) ubiquitin ligase as a conserved regulator of Cip/Kip CKIs that promotes the degradation of C. elegans CKI-1 and human p21.
    Title: CRL2(LRR-1) targets a CDK inhibitor for cell cycle control in C. elegans and actin-based motility regulation in human cells.
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

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

  • MGC20689

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
leucine-rich repeat protein 1
Names
4-1BB-mediated signaling molecule
LRR-repeat protein 1
cyclophilin-like 5
epididymis secretory sperm binding protein
peptidylprolyl isomerase-like 5

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_152329.4 → NP_689542.2  leucine-rich repeat protein 1 isoform 1

    See identical proteins and their annotated locations for NP_689542.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Isoform 1 has also been named LRR-1a.
    Source sequence(s)
    BI825814, BX248298, BX648029
    Consensus CDS
    CCDS9686.1
    UniProtKB/Swiss-Prot
    A5D6X3, B4DDE0, Q52M24, Q86SZ1, Q8N6H9, Q96L50
    Related
    ENSP00000298288.6, ENST00000298288.11
    Conserved Domains (2) summary
    COG4886
    Location:176 → 352
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:156 → 178
    LRR_RI; leucine-rich repeat [structural motif]

  2. NM_203467.2 → NP_982292.1  leucine-rich repeat protein 1 isoform 3

    See identical proteins and their annotated locations for NP_982292.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks a coding region exon which leads to a frameshift, compared to variant 1. The resulting isoform (3) has a distinct and shorter C-terminus, as compared to isoform 1. Isoform 3 has also been named LRR-1b.
    Source sequence(s)
    BI825814, BX648029
    Consensus CDS
    CCDS9687.1
    UniProtKB/TrEMBL
    A0A384MTQ0, Q32Q17
    Related
    ENSP00000315628.4, ENST00000318317.8

RNA

  1. NR_037792.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an alternate exon in the coding region that results in a frameshift and early stop codon, compared to variant 1. A CDS is not annotated because the transcript is a nonsense-mediated mRNA decay (NMD) candidate.
    Source sequence(s)
    AL139099
    Related
    ENST00000554869.5

  2. NR_037793.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an alternate exon in the coding region that results in a frameshift and early stop codon, compared to variant 1. A CDS is not annotated because the transcript is a nonsense-mediated mRNA decay (NMD) candidate.
    Source sequence(s)
    AL139099
    Related
    ENST00000540712.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    49598940..49614672
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    43797191..43812899
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_203466.1: Suppressed sequence

    Description
    NM_203466.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96L50.2 GenPept UniProtKB/Swiss-Prot:Q96L50

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