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

Gene ID: 220416, updated on 3-Apr-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (46211928..46277115)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (45432940..45498131)
105.20220307 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
  • 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 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_2023_10

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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