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LRRC17 leucine rich repeat containing 17 [ Homo sapiens (human) ]

Gene ID: 10234, updated on 3-Apr-2024

Summary

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Official Symbol
LRRC17provided by HGNC
Official Full Name
leucine rich repeat containing 17provided by HGNC
Primary source
HGNC:HGNC:16895
See related
Ensembl:ENSG00000128606 MIM:618749; AllianceGenome:HGNC:16895
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
P37NB
Summary
Predicted to be involved in bone marrow development and negative regulation of osteoclast differentiation. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in ovary (RPKM 29.2), gall bladder (RPKM 13.5) and 10 other tissues See more
Orthologs
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Genomic context

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Location:
7q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (102913000..102945111)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (104227406..104260198)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (102553447..102585558)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 185 member A Neighboring gene F-box and leucine rich repeat protein 13 Neighboring gene RNA, U6 small nuclear 1136, pseudogene Neighboring gene RN7SK pseudogene 198 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:102516003-102517202 Neighboring gene NANOG hESC enhancer GRCh37_chr7:102541113-102541614 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:102580673-102581173 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:102584236-102584801 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:102613398-102614597 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:102616989-102617150 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:102631963-102633162 Neighboring gene nuclear factor, erythroid 4 Neighboring gene Sharpr-MPRA regulatory region 7515 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26438 Neighboring gene armadillo repeat containing 10 Neighboring gene crystallin zeta pseudogene 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. Low Plasma Level of Leucine-Rich Repeat-Containing 17 (LRRc17) Is an Independent and Additive Risk Factor for Osteoporotic Fractures in Postmenopausal Women. Hong N, et al. J Bone Miner Res, 2016 Dec. PMID 27355564
  2. A cDNA encoding a putative 37 kDa leucine-rich repeat (LRR) protein, p37NB, isolated from S-type neuroblastoma cell has a differential tissue distribution. Kim D, et al. Biochim Biophys Acta, 1996 Dec 11. PMID 8982252
  3. LRRc17 controls BMSC senescence via mitophagy and inhibits the therapeutic effect of BMSCs on ovariectomy-induced bone loss. Liu F, et al. Redox Biol, 2021 Jul. PMID 33865167, Free PMC Article
  4. LRRC17 Is Linked to Prognosis of Ovarian Cancer Through a p53-dependent Anti-apoptotic Function. Oh CK, et al. Anticancer Res, 2020 Oct. PMID 32988884
  5. Identification of LRRc17 as a negative regulator of receptor activator of NF-kappaB ligand (RANKL)-induced osteoclast differentiation. Kim T, et al. J Biol Chem, 2009 May 29. PMID 19336404, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LRRc17 controls BMSC senescence via mitophagy and inhibits the therapeutic effect of BMSCs on ovariectomy-induced bone loss.
    Title: LRRc17 controls BMSC senescence via mitophagy and inhibits the therapeutic effect of BMSCs on ovariectomy-induced bone loss.
  2. LRRC17 Is Linked to Prognosis of Ovarian Cancer Through a p53-dependent Anti-apoptotic Function.
    Title: LRRC17 Is Linked to Prognosis of Ovarian Cancer Through a p53-dependent Anti-apoptotic Function.
  3. low circulating plasma level of LRRc17 might serve as an independent and additive risk factor for osteoporotic fractures.
    Title: Low Plasma Level of Leucine-Rich Repeat-Containing 17 (LRRc17) Is an Independent and Additive Risk Factor for Osteoporotic Fractures in Postmenopausal Women.
  4. Whole-genome microarray mRNA-expression profiles of myofibroblasts and skin fibroblasts revealed four additional genes that are significantly differentially expressed in these two cell types: NKX2-3 and LRRC17 in myofibroblasts and SHOX2 and TBX5 in skin fibroblasts
    Title: Myofibroblasts are distinguished from activated skin fibroblasts by the expression of AOC3 and other associated markers.
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

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in bone marrow development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of osteoclast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
NOT involved_in osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
NOT involved_in osteoblast proliferation ISS
Inferred from Sequence or Structural Similarity
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 extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
leucine-rich repeat-containing protein 17
Names
37 kDa leucine-rich repeat (LRR) protein

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_001031692.3 → NP_001026862.1  leucine-rich repeat-containing protein 17 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001026862.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC073127, AI961444, BC027903, DA749917
    Consensus CDS
    CCDS34721.1
    UniProtKB/Swiss-Prot
    Q13288, Q6UWA7, Q75MG5, Q8N6Y2
    UniProtKB/TrEMBL
    A8K2P0
    Related
    ENSP00000344242.4, ENST00000339431.9
    Conserved Domains (4) summary
    cd00116
    Location:267 → 351
    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:63 → 81
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:294 → 332
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:272 → 328
    LRR_8; Leucine rich repeat

  2. NM_005824.3 → NP_005815.2  leucine-rich repeat-containing protein 17 isoform 2 precursor

    See identical proteins and their annotated locations for NP_005815.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 3' UTR and coding region, compared to variant 1, that causes a frameshift. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC073127, AI961444, DA749917, U32907
    Consensus CDS
    CCDS5727.1
    UniProtKB/Swiss-Prot
    Q8N6Y2
    Related
    ENSP00000249377.4, ENST00000249377.4
    Conserved Domains (4) summary
    sd00031
    Location:63 → 83
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:217 → 246
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:105 → 146
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:84 → 141
    LRR_8; Leucine rich repeat

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    102913000..102945111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419717.1 → XP_047275673.1  leucine-rich repeat-containing protein 17 isoform X1

    UniProtKB/Swiss-Prot
    Q13288, Q6UWA7, Q75MG5, Q8N6Y2

  2. XM_005250108.2 → XP_005250165.1  leucine-rich repeat-containing protein 17 isoform X1

    See identical proteins and their annotated locations for XP_005250165.1

    UniProtKB/Swiss-Prot
    Q13288, Q6UWA7, Q75MG5, Q8N6Y2
    UniProtKB/TrEMBL
    A8K2P0
    Conserved Domains (4) summary
    cd00116
    Location:267 → 351
    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:63 → 81
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:294 → 332
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:272 → 328
    LRR_8; Leucine rich repeat

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    104227406..104260198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N6Y2.1 GenPept UniProtKB/Swiss-Prot:Q8N6Y2

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