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

Summary

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 beta1 activation. Located in cell surface. [provided by Alliance of Genome Resources, Apr 2022]
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

Location:: 3q29

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (196639694..196662004)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (199359041..199381340)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (196366565..196388875)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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).
Biallelic mutations in NRROS cause an early onset lethal microgliopathy.
Title: Biallelic mutations in NRROS cause an early onset lethal microgliopathy.
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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-16806 (e-PCR)
- UniSTS:45575

SHGC-80664 (e-PCR)
- UniSTS:102220

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
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)

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