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

Gene ID: 81543, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in liver (RPKM 2.2), ovary (RPKM 1.8) and 24 other tissues See more
Orthologs
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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 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)

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

  • 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.

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