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    LRRC3C leucine rich repeat containing 3C [ Homo sapiens (human) ]

    Gene ID: 100505591, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LRRC3Cprovided by HGNC
    Official Full Name
    leucine rich repeat containing 3Cprovided by HGNC
    Primary source
    HGNC:HGNC:40034
    See related
    Ensembl:ENSG00000204913 AllianceGenome:HGNC:40034
    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 located in membrane. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 1.3), fat (RPKM 0.9) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC3C in Genome Data Viewer
    Location:
    17q21.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (39927732..39944999)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40791446..40808715)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38083985..38101252)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene gasdermin B Neighboring gene GSDMB 5' regulatory region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38079584-38080370 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:38080371-38081156 Neighboring gene uncharacterized LOC124903999 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38083108-38083718 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38083719-38084330 Neighboring gene ORMDL sphingolipid biosynthesis regulator 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12118 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8469 Neighboring gene gasdermin A Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:38134870-38136069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12120 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38136971-38137948 Neighboring gene uncharacterized LOC124904000 Neighboring gene proteasome 26S subunit, non-ATPase 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:38148510-38148687

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Gene Expression-Genotype Analysis Implicates GSDMA, GSDMB, and LRRC3C as Contributors to Inflammatory Bowel Disease Susceptibility. Söderman J, et al. Biomed Res Int, 2015. PMID 26484354, Free PMC Article
    2. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Soranzo N, et al. Nat Genet, 2009 Nov. PMID 19820697, Free PMC Article
    3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Zody MC, et al. Nature, 2006 Apr 20. PMID 16625196, Free PMC Article
    4. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (6) 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)

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    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 membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 3C
    Names
    putative LRRC3-like protein ENSP00000367157

    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_001195545.2 → NP_001182474.1  leucine-rich repeat-containing protein 3C precursor

      See identical proteins and their annotated locations for NP_001182474.1

      Status: VALIDATED

      Source sequence(s)
      AC090844
      Consensus CDS
      CCDS54121.1
      UniProtKB/Swiss-Prot
      A6NJW4
      Related
      ENSP00000367157.4, ENST00000377924.6
      Conserved Domains (3) summary
      sd00031
      Location:61 → 80
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:82 → 120
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:82 → 140
      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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      39927732..39944999
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024003.1 → XP_016879492.1  leucine-rich repeat-containing protein 3C isoform X1

      UniProtKB/Swiss-Prot
      A6NJW4
      Conserved Domains (3) summary
      sd00031
      Location:61 → 80
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:82 → 120
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:82 → 140
      LRR_8; Leucine rich repeat

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      40791446..40808715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314638.1 → XP_054170613.1  leucine-rich repeat-containing protein 3C isoform X1

      UniProtKB/Swiss-Prot
      A6NJW4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NJW4.2 GenPept UniProtKB/Swiss-Prot:A6NJW4

    Gene LinkOut

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

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