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

    Gene ID: 122769, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See LRR1 in Genome Data Viewer
    Location:
    14q21.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (49598940..49614672)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (43797191..43812899)
    RS_2024_09 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 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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    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)

    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 intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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