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    NRROS negative regulator of reactive oxygen species [ Homo sapiens (human) ]

    Gene ID: 375387, updated on 14-Nov-2024

    Summary

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    Official Symbol
    NRROSprovided by HGNC
    Official Full Name
    negative regulator of reactive oxygen speciesprovided by HGNC
    Primary source
    HGNC:HGNC:24613
    See related
    Ensembl:ENSG00000174004 MIM:615322; AllianceGenome:HGNC:24613
    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
    GARPL1; LRRC33; SENEBAC; UNQ3030; ELLP3030
    Summary
    Enables transforming growth factor beta binding activity. Predicted to be involved in several processes, including microglia development; sequestering of TGFbeta in extracellular matrix; and transforming growth factor beta receptor signaling pathway. Located in cell surface. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in bone marrow (RPKM 13.1), spleen (RPKM 8.2) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NRROS in Genome Data Viewer
    Location:
    3q29
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (196639694..196662004)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (199359041..199381340)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (196366565..196388875)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15067 Neighboring gene Sharpr-MPRA regulatory region 4041 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:196296784-196297332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:196297333-196297880 Neighboring gene F-box protein 45 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21096 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196359126-196359880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:196361941-196362478 Neighboring gene long intergenic non-protein coding RNA 1063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21098 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21101 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:196374559-196375324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196377623-196378388 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196386545-196387120 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196392298-196392960 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196392961-196393623 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196393624-196394285 Neighboring gene NANOG hESC enhancer GRCh37_chr3:196409910-196410411 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:196438871-196439183 Neighboring gene RNA, U6 small nuclear 646, pseudogene Neighboring gene centrosomal protein 19 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class X

    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. Identification and characterization of a unique leucine-rich repeat protein (LRRC33) that inhibits Toll-like receptor-mediated NF-κB activation. Liu J, et al. Biochem Biophys Res Commun, 2013 Apr 26. PMID 23545260
    2. Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification. Dong X, et al. Am J Hum Genet, 2020 Apr 2. PMID 32197075, Free PMC Article
    3. Biallelic mutations in NRROS cause an early onset lethal microgliopathy. Smith C, et al. Acta Neuropathol, 2020 May. PMID 32100099, Free PMC Article
    4. Association Study Reveals One Susceptibility Locus with Vitiligo in the Chinese Han Population. Tang X, et al. Genet Test Mol Biomarkers, 2019 Nov. PMID 31644309
    5. LRRC33 is a novel binding and potential regulating protein of TGF-β1 function in human acute myeloid leukemia cells. Ma W, et al. PLoS One, 2019. PMID 31600200, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Specificity of TGF-beta1 signal designated by LRRC33 and integrin alphaVbeta8.
      Title: Specificity of TGF-β1 signal designated by LRRC33 and integrin α(V)β(8).
    2. Biallelic mutations in NRROS cause an early onset lethal microgliopathy.
      Title: Biallelic mutations in NRROS cause an early onset lethal microgliopathy.
    3. Wild-type and mutant NRROS proteins co-localize with latent TGF-beta1 intracellularly.
      Title: Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
    4. A SNP at the rs6583331 locus 3q29 is associated with the susceptibility of vitiligo in the Chinese Han population. The T allele of the locus within the FBXO45-NRROS gene (3q29) was significantly associated with vitiligo (odds ratio = 1.22, 95% confidence interval: 1.10-1.36, p = 0.0001). Association at the genotype level was strong (p = 0.0007).
      Title: Association Study Reveals One Susceptibility Locus with Vitiligo in the Chinese Han Population.
    5. LRRC33 co-localizes and forms complex with latent TGF-beta1 protein on the cell surface and intracellularly in these cells.
      Title: LRRC33 is a novel binding and potential regulating protein of TGF-β1 function in human acute myeloid leukemia cells.
    6. results suggest that LRRC33 and TLRs may form a negative-feedback loop, which is important for the maintenance of immune homeostasis.
      Title: Epigenetically modulated LRRC33 acts as a negative physiological regulator for multiple Toll-like receptors.
    7. LRRC33 represents the first identified LRR-containing protein that plays a critical role in desensitizing Toll-like receptor (TLR)-mediated innate immune responses.
      Title: Identification and characterization of a unique leucine-rich repeat protein (LRRC33) that inhibits Toll-like receptor-mediated NF-κB activation.
    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
    Seizures, early-onset, with neurodegeneration and brain calcifications
    MedGen: C5394359 OMIM: 618875 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC50789

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables receptor ligand inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables transforming growth factor beta binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transforming growth factor beta binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT involved_in innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in microglia development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sequestering of TGFbeta in extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT involved_in superoxide metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transforming growth factor beta activator LRRC33
    Names
    glycoprotein A repetitions predominant like 1
    leucine-rich repeat-containing protein 33

    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_198565.3 → NP_940967.1  transforming growth factor beta activator LRRC33 precursor

      See identical proteins and their annotated locations for NP_940967.1

      Status: VALIDATED

      Source sequence(s)
      AA534416, AC055725, BC044233, BQ070837, HY084054
      Consensus CDS
      CCDS3319.1
      UniProtKB/Swiss-Prot
      Q86YC3
      Related
      ENSP00000328625.4, ENST00000328557.5
      Conserved Domains (3) summary
      cd00116
      Location:357 → 594
      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 ...
      sd00033
      Location:330 → 353
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:157 → 217
      LRR_8; Leucine rich repeat

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      196639694..196662004
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      199359041..199381340
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YC3.1 GenPept UniProtKB/Swiss-Prot:Q86YC3

    Gene LinkOut

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

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