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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
    mouse all
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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

    Gene LinkOut

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