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LRIG3 leucine rich repeats and immunoglobulin like domains 3 [ Homo sapiens (human) ]

Gene ID: 121227, updated on 16-Oct-2021

Summary

Official Symbol
LRIG3provided by HGNC
Official Full Name
leucine rich repeats and immunoglobulin like domains 3provided by HGNC
Primary source
HGNC:HGNC:30991
See related
Ensembl:ENSG00000139263 MIM:608870
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
LIG3
Expression
Broad expression in thyroid (RPKM 16.5), skin (RPKM 7.2) and 24 other tissues See more
Orthologs
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Genomic context

See LRIG3 in Genome Data Viewer
Location:
12q14.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (58872155..58920519, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (59265937..59314285, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369789 Neighboring gene long intergenic non-protein coding RNA 2388 Neighboring gene uncharacterized LOC100506869 Neighboring gene LRIG3 divergent transcript Neighboring gene VISTA enhancer hs1468 Neighboring gene ribosomal protein S6 pseudogene 22

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
GeneReviews: Not available
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ26573, FLJ90440, KIAA3016

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in otolith morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
leucine-rich repeats and immunoglobulin-like domains protein 3
Names
LIG-3

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_001136051.3NP_001129523.1  leucine-rich repeats and immunoglobulin-like domains protein 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001129523.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AY358288, AY358295
    Consensus CDS
    CCDS44933.1
    UniProtKB/Swiss-Prot
    Q6UXM1
    Related
    ENSP00000368436.4, ENST00000379141.8
    Conserved Domains (9) summary
    cd05763
    Location:560634
    Ig_1; Subgroup of the immunoglobulin (Ig) superfamily
    smart00408
    Location:651714
    IGc2; Immunoglobulin C-2 Type
    smart00082
    Location:386434
    LRRCT; Leucine rich repeat C-terminal domain
    cd00116
    Location:202386
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    pfam07679
    Location:543633
    I-set; Immunoglobulin I-set domain
    sd00031
    Location:6386
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:87108
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:252311
    LRR_8; Leucine rich repeat
    pfam13927
    Location:438525
    Ig_3; Immunoglobulin domain
  2. NM_153377.5NP_700356.2  leucine-rich repeats and immunoglobulin-like domains protein 3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_700356.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region and represents the use of an alternate promoter, compared to variant 1, which results in a protein (isoform 2) with a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK292857, AY358288
    Consensus CDS
    CCDS8960.1
    UniProtKB/Swiss-Prot
    Q6UXM1
    Related
    ENSP00000326759.3, ENST00000320743.8
    Conserved Domains (9) summary
    TIGR00864
    Location:416494
    PCC; polycystin cation channel protein
    COG4886
    Location:142425
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00031
    Location:123146
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:147168
    LRR_RI; leucine-rich repeat [structural motif]
    pfam07679
    Location:697784
    I-set; Immunoglobulin I-set domain
    pfam13855
    Location:78133
    LRR_8; Leucine rich repeat
    pfam13927
    Location:498585
    Ig_3; Immunoglobulin domain
    cd00096
    Location:705708
    Ig; Ig strand A' [structural motif]
    cd05763
    Location:604694
    IgI_LRIG1-like; Immunoglobulin (Ig)-like ectodomain of the LRIG1 (Leucine-rich Repeats And Immunoglobulin-like Domains Protein 1) and similar proteins; member of the I-set of IgSF domains

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    58872155..58920519 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018790.2XP_016874279.1  leucine-rich repeats and immunoglobulin-like domains protein 3 isoform X1

    UniProtKB/TrEMBL
    C9K080
    Related
    ENSP00000413143.2, ENST00000433272.6
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