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    LRRC3 leucine rich repeat containing 3 [ Homo sapiens (human) ]

    Gene ID: 81543, updated on 9-Dec-2024

    Summary

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    Official Symbol
    LRRC3provided by HGNC
    Official Full Name
    leucine rich repeat containing 3provided by HGNC
    Primary source
    HGNC:HGNC:14965
    See related
    Ensembl:ENSG00000160233 MIM:617620; AllianceGenome:HGNC:14965
    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
    LRRC3DN; C21orf30; C21orf102
    Summary
    Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in liver (RPKM 2.2), ovary (RPKM 1.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC3 in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (44455510..44462196)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (42815963..42822649)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45875393..45882079)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene transient receptor potential cation channel subfamily M member 2 Neighboring gene Z6 small nucleolar RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45861695-45862234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45874390-45874890 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:45875054-45875233 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13384 Neighboring gene LRRC3 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45879794-45880676 Neighboring gene MT-CYB pseudogene 21 Neighboring gene MT-ND6 pseudogene 21 Neighboring gene MT-ND5 pseudogene 1 Neighboring gene hepatocellular carcinoma ferroptosis associative lncRNA

    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. Nineteen additional unpredicted transcripts from human chromosome 21. Reymond A, et al. Genomics, 2002 Jun. PMID 12036297
    2. Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters. Warnatz HJ, et al. Nucleic Acids Res, 2010 Oct. PMID 20494980, Free PMC Article
    3. The metastasis efficiency modifier ribosomal RNA processing 1 homolog B (RRP1B) is a chromatin-associated factor. Crawford NP, et al. J Biol Chem, 2009 Oct 16. PMID 19710015, Free PMC Article
    4. Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins. Hu YH, et al. BMC Genomics, 2006 Jun 16. PMID 16780588, Free PMC Article
    5. The DNA sequence of human chromosome 21. Hattori M, et al. Nature, 2000 May 18. PMID 10830953

    See all (14) citations in PubMed

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp434C128

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 3
    Names
    LRRC3 downstream neighbor (non-protein coding)
    intronless long ORF, AL117578

    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_030891.6 → NP_112153.1  leucine-rich repeat-containing protein 3 precursor

      See identical proteins and their annotated locations for NP_112153.1

      Status: VALIDATED

      Source sequence(s)
      AK127604, AL117578, AP001065, BC064321
      Consensus CDS
      CCDS13711.1
      UniProtKB/Swiss-Prot
      Q0VDJ2, Q9BY71
      Related
      ENSP00000291592.4, ENST00000291592.6
      Conserved Domains (4) summary
      smart00013
      Location:32 → 68
      LRRNT; Leucine rich repeat N-terminal domain
      sd00031
      Location:48 → 65
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:89 → 129
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:69 → 125
      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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      44455510..44462196
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      42815963..42822649
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BY71.1 GenPept UniProtKB/Swiss-Prot:Q9BY71

    Gene LinkOut

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

    Chemical Information
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