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

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

    Summary

    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 located in extracellular region. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in ovary (RPKM 29.2), gall bladder (RPKM 13.5) and 10 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See LRRC17 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (102913000..102945111)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (104227406..104260198)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001031692.3NP_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:267351
      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:6381
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:294332
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:272328
      LRR_8; Leucine rich repeat
    2. NM_005824.3NP_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:6383
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:217246
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:105146
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:84141
      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_000007.14 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      Q13288, Q6UWA7, Q75MG5, Q8N6Y2
      UniProtKB/TrEMBL
      A8K2P0
    2. XM_005250108.2XP_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:267351
      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:6381
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:294332
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:272328
      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)