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    LRRC63 leucine rich repeat containing 63 [ Homo sapiens (human) ]

    Gene ID: 220416, updated on 2-Nov-2024

    Summary

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    Official Symbol
    LRRC63provided by HGNC
    Official Full Name
    leucine rich repeat containing 63provided by HGNC
    Primary source
    HGNC:HGNC:34296
    See related
    Ensembl:ENSG00000173988 AllianceGenome:HGNC:34296
    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
    Summary
    Predicted to be involved in signal transduction. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 1.5), prostate (RPKM 0.2) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC63 in Genome Data Viewer
    Location:
    13q14.13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (46211928..46277115)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (45432940..45498131)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (46786063..46851250)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene lymphocyte cytosolic protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7692 Neighboring gene RNA, 7SL, cytoplasmic 288, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7693 Neighboring gene uncharacterized LOC107984578 Neighboring gene uncharacterized LOC105370192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5319 Neighboring gene small nucleolar RNA U13 Neighboring gene RN7SK pseudogene 5 Neighboring gene uncharacterized LOC105370194 Neighboring gene ABITRAM pseudogene 1 Neighboring gene uncharacterized LOC124903170 Neighboring gene NANOG hESC enhancer GRCh37_chr13:46867593-46868094 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:46870567-46871766 Neighboring gene long intergenic non-protein coding RNA 563

    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. Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes. Larson MG, et al. BMC Med Genet, 2007 Sep 19. PMID 17903304, Free PMC Article
    2. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes.
    EBI GWAS Catalog

    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

    Clone Names

    • RP11-139H14.4

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 63

    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_001282460.2 → NP_001269389.1  leucine-rich repeat-containing protein 63

      Status: VALIDATED

      Source sequence(s)
      AL137141, AL139801, BC030276
      Consensus CDS
      CCDS61325.1
      UniProtKB/Swiss-Prot
      A0A7D9NKF2, Q05C16, Q5TBN0
      UniProtKB/TrEMBL
      A0AA75I522
      Related
      ENSP00000469337.1, ENST00000595396.3
      Conserved Domains (2) summary
      sd00033
      Location:347 → 369
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:393 → 449
      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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      46211928..46277115
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020422.2 → XP_016875911.1  leucine-rich repeat-containing protein 63 isoform X2

      UniProtKB/TrEMBL
      A0AA75I522

    2. XM_017020431.2 → XP_016875920.1  leucine-rich repeat-containing protein 63 isoform X8

    3. XM_047430137.1 → XP_047286093.1  leucine-rich repeat-containing protein 63 isoform X1

      UniProtKB/Swiss-Prot
      A0A7D9NKF2, Q05C16, Q5TBN0

    4. XM_011534993.2 → XP_011533295.1  leucine-rich repeat-containing protein 63 isoform X6

      UniProtKB/TrEMBL
      A0A6Q8PHN9

    5. XM_047430140.1 → XP_047286096.1  leucine-rich repeat-containing protein 63 isoform X7

    6. XM_011534992.3 → XP_011533294.1  leucine-rich repeat-containing protein 63 isoform X5

      UniProtKB/TrEMBL
      A0A6Q8PHN9
      Related
      ENSP00000502820.1, ENST00000674837.1

    7. XM_011534989.3 → XP_011533291.1  leucine-rich repeat-containing protein 63 isoform X4

      UniProtKB/TrEMBL
      A0A6Q8PFF0, A0A6Q8PHN9
      Related
      ENSP00000501788.1, ENST00000676025.1

    8. XM_017020423.2 → XP_016875912.1  leucine-rich repeat-containing protein 63 isoform X3

      UniProtKB/TrEMBL
      A0AA75I522

    RNA

    1. XR_001749498.2 RNA Sequence

      Related
      ENST00000674570.1

    2. XR_007063660.1 RNA Sequence

    3. XR_941519.3 RNA Sequence

    4. XR_007063667.1 RNA Sequence

    5. XR_007063664.1 RNA Sequence

    6. XR_007063665.1 RNA Sequence

    7. XR_007063663.1 RNA Sequence

    8. XR_007063666.1 RNA Sequence

    9. XR_007063661.1 RNA Sequence

    10. XR_007063662.1 RNA Sequence

    11. XR_941518.3 RNA Sequence

    12. XR_941517.3 RNA Sequence

    13. XR_941520.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      45432940..45498131
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374198.1 → XP_054230173.1  leucine-rich repeat-containing protein 63 isoform X2

    2. XM_054374204.1 → XP_054230179.1  leucine-rich repeat-containing protein 63 isoform X8

    3. XM_054374197.1 → XP_054230172.1  leucine-rich repeat-containing protein 63 isoform X1

      UniProtKB/Swiss-Prot
      A0A7D9NKF2, Q05C16, Q5TBN0

    4. XM_054374202.1 → XP_054230177.1  leucine-rich repeat-containing protein 63 isoform X6

    5. XM_054374203.1 → XP_054230178.1  leucine-rich repeat-containing protein 63 isoform X7

    6. XM_054374201.1 → XP_054230176.1  leucine-rich repeat-containing protein 63 isoform X5

    7. XM_054374200.1 → XP_054230175.1  leucine-rich repeat-containing protein 63 isoform X4

      UniProtKB/TrEMBL
      A0A6Q8PFF0

    8. XM_054374199.1 → XP_054230174.1  leucine-rich repeat-containing protein 63 isoform X3

    RNA

    1. XR_008488744.1 RNA Sequence

    2. XR_008488735.1 RNA Sequence

    3. XR_008488736.1 RNA Sequence

    4. XR_008488745.1 RNA Sequence

    5. XR_008488741.1 RNA Sequence

    6. XR_008488742.1 RNA Sequence

    7. XR_008488740.1 RNA Sequence

    8. XR_008488743.1 RNA Sequence

    9. XR_008488738.1 RNA Sequence

    10. XR_008488739.1 RNA Sequence

    11. XR_008488734.1 RNA Sequence

    12. XR_008488733.1 RNA Sequence

    13. XR_008488737.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001024609.1: Suppressed sequence

      Description
      NM_001024609.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q05C16.3 GenPept UniProtKB/Swiss-Prot:Q05C16

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

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