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

Gene ID: 100505591, updated on 2-Nov-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, Nov 2024]
Expression
Broad expression in testis (RPKM 1.3), fat (RPKM 0.9) and 17 other tissues See more
Orthologs
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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: 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. 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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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

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