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LRRN1 leucine rich repeat neuronal 1 [ Homo sapiens (human) ]

Gene ID: 57633, updated on 3-Apr-2024

Summary

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Official Symbol
LRRN1provided by HGNC
Official Full Name
leucine rich repeat neuronal 1provided by HGNC
Primary source
HGNC:HGNC:20980
See related
Ensembl:ENSG00000175928 MIM:619623; AllianceGenome:HGNC:20980
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
NLRR1; NLRR-1; FIGLER3
Summary
Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be integral component of membrane. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 12.5), testis (RPKM 4.5) and 8 other tissues See more
Orthologs
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Genomic context

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See LRRN1 in Genome Data Viewer
Location:
3p26.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (3799431..3849834)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (3795791..3845800)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (3841115..3891518)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14009 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:3168955-3169685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19345 Neighboring gene tRNA nucleotidyl transferase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:3310572-3310785 Neighboring gene cereblon Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69928 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69934 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69968 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:3600748-3601947 Neighboring gene uncharacterized LOC100130207 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14013 Neighboring gene Sharpr-MPRA regulatory region 107 Neighboring gene uncharacterized LOC102723512 Neighboring gene polyribonucleotide nucleotidyltransferase 1 pseudogene 1 Neighboring gene sulfatase modifying factor 1

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. Leucine-rich repeat neuronal protein-1 suppresses apoptosis of gastric cancer cells through regulation of Fas/FasL. Liu B, et al. Cancer Sci, 2019 Jul. PMID 31087525, Free PMC Article
  2. Leucine-Rich Repeat Neuronal Protein 1 Regulates Differentiation of Embryonic Stem Cells by Post-Translational Modifications of Pluripotency Factors. Liao CH, et al. Stem Cells, 2018 Oct. PMID 29893054
  3. N-MYC promotes cell proliferation through a direct transactivation of neuronal leucine-rich repeat protein-1 (NLRR1) gene in neuroblastoma. Hossain MS, et al. Oncogene, 2008 Oct 9. PMID 18591937
  4. Neuronal leucine-rich repeat 1 negatively regulates anaplastic lymphoma kinase in neuroblastoma. Satoh S, et al. Sci Rep, 2016 Sep 8. PMID 27604320, Free PMC Article
  5. Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry. Sousa I, et al. Mol Autism, 2010 Mar 25. PMID 20678249, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Authors found that LRRN1 contributes to pluripotency of hESC by preventing translocation of OCT4, NANOG, and SOX2 from nucleus to cytoplasm, thereby lessening their post-translational modification and degradation.
    Title: Leucine-Rich Repeat Neuronal Protein 1 Regulates Differentiation of Embryonic Stem Cells by Post-Translational Modifications of Pluripotency Factors.
  2. Study found that LRRN1 is upregulated in gastric cancer (GC) tissue samples and its expression is closely related to poor prognosis. Knocking down LRRN1 expression promoted GC cell apoptosis, and activated the Fas/FasL pathway.
    Title: Leucine-rich repeat neuronal protein-1 suppresses apoptosis of gastric cancer cells through regulation of Fas/FasL.
  3. NLRR1 appears to be an extracellular negative regulator of ALK signalling in neuroblastoma and neuronal development.
    Title: Neuronal leucine-rich repeat 1 negatively regulates anaplastic lymphoma kinase in neuroblastoma.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry.
  5. N-MYC promotes cell proliferation through a direct transactivation of neuronal leucine-rich repeat protein-1 (NLRR1) gene in neuroblastoma.
    Title: N-MYC promotes cell proliferation through a direct transactivation of neuronal leucine-rich repeat protein-1 (NLRR1) gene in neuroblastoma.
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

EBI GWAS Catalog

Description
Genetics of callous-unemotional behavior in children.
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

  • KIAA1497

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 positive regulation of synapse assembly IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
leucine-rich repeat neuronal protein 1
Names
fibronectin type III, immunoglobulin and leucine rich repeat domains 3
neuronal leucine-rich repeat protein 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_001324188.2 → NP_001311117.1  leucine-rich repeat neuronal protein 1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC023484, BC012463
    Consensus CDS
    CCDS33685.1
    UniProtKB/Swiss-Prot
    Q3LID5, Q6UXK5, Q8IYV5, Q9H8V1, Q9P231
    UniProtKB/TrEMBL
    A8K6Q2
    Conserved Domains (8) summary
    smart00082
    Location:371 → 419
    LRRCT; Leucine rich repeat C-terminal domain
    cd00116
    Location:13 → 273
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    pfam07679
    Location:429 → 516
    I-set; Immunoglobulin I-set domain
    sd00031
    Location:339 → 362
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:97 → 120
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00041
    Location:531 → 600
    fn3; Fibronectin type III domain
    pfam13855
    Location:119 → 179
    LRR_8; Leucine rich repeat
    cl11960
    Location:431 → 516
    Ig; Immunoglobulin domain

  2. NM_001324189.2 → NP_001311118.1  leucine-rich repeat neuronal protein 1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC023484, BC012463
    Consensus CDS
    CCDS33685.1
    UniProtKB/Swiss-Prot
    Q3LID5, Q6UXK5, Q8IYV5, Q9H8V1, Q9P231
    UniProtKB/TrEMBL
    A8K6Q2
    Conserved Domains (8) summary
    smart00082
    Location:371 → 419
    LRRCT; Leucine rich repeat C-terminal domain
    cd00116
    Location:13 → 273
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    pfam07679
    Location:429 → 516
    I-set; Immunoglobulin I-set domain
    sd00031
    Location:339 → 362
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:97 → 120
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00041
    Location:531 → 600
    fn3; Fibronectin type III domain
    pfam13855
    Location:119 → 179
    LRR_8; Leucine rich repeat
    cl11960
    Location:431 → 516
    Ig; Immunoglobulin domain

  3. NM_020873.7 → NP_065924.3  leucine-rich repeat neuronal protein 1 precursor

    See identical proteins and their annotated locations for NP_065924.3

    Status: VALIDATED

    Description
    Transcript Variant: Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC023484, AK291717, AU154359, BC012463, BC034947, BU685265, CX867219, DA736067
    Consensus CDS
    CCDS33685.1
    UniProtKB/Swiss-Prot
    Q3LID5, Q6UXK5, Q8IYV5, Q9H8V1, Q9P231
    UniProtKB/TrEMBL
    A8K6Q2
    Related
    ENSP00000314901.3, ENST00000319331.4
    Conserved Domains (8) summary
    smart00082
    Location:371 → 419
    LRRCT; Leucine rich repeat C-terminal domain
    cd00116
    Location:13 → 273
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    pfam07679
    Location:429 → 516
    I-set; Immunoglobulin I-set domain
    sd00031
    Location:339 → 362
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:97 → 120
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00041
    Location:531 → 600
    fn3; Fibronectin type III domain
    pfam13855
    Location:119 → 179
    LRR_8; Leucine rich repeat
    cl11960
    Location:431 → 516
    Ig; Immunoglobulin domain

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    3799431..3849834
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448644.1 → XP_047304600.1  leucine-rich repeat neuronal protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q3LID5, Q6UXK5, Q8IYV5, Q9H8V1, Q9P231

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    3795791..3845800
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347405.1 → XP_054203380.1  leucine-rich repeat neuronal protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q3LID5, Q6UXK5, Q8IYV5, Q9H8V1, Q9P231
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UXK5.1 GenPept UniProtKB/Swiss-Prot:Q6UXK5

Gene LinkOut

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

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