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LRIG1 leucine rich repeats and immunoglobulin like domains 1 [ Homo sapiens (human) ]

Gene ID: 26018, updated on 3-Nov-2024

Summary

Official Symbol
LRIG1provided by HGNC
Official Full Name
leucine rich repeats and immunoglobulin like domains 1provided by HGNC
Primary source
HGNC:HGNC:17360
See related
Ensembl:ENSG00000144749 MIM:608868; AllianceGenome:HGNC:17360
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
LIG1; LIG-1
Summary
Predicted to act upstream of or within several processes, including innervation; otolith morphogenesis; and sensory perception of sound. Predicted to be located in plasma membrane. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 61.1), fat (RPKM 28.0) and 23 other tissues See more
Orthologs
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Genomic context

See LRIG1 in Genome Data Viewer
Location:
3p14.1
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (66378797..66501121, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (66423367..66545661, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (66429221..66551545, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 26 Neighboring gene RNA, 7SL, cytoplasmic 482, pseudogene Neighboring gene developmental pluripotency associated 4 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:66433119-66433620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:66433621-66434120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20043 Neighboring gene NANOG hESC enhancer GRCh37_chr3:66472381-66472906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:66486139-66486729 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:66486730-66487319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:66491627-66492374 Neighboring gene HNF4 motif-containing MPRA enhancer 188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14504 Neighboring gene Sharpr-MPRA regulatory region 8313 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:66550542-66551042 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:66551043-66551543 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:66582385-66583210 Neighboring gene Sharpr-MPRA regulatory region 1089 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:66604132-66605331 Neighboring gene uncharacterized LOC105377141 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:66622461-66623375 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:66623376-66624289 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:66663707-66663920 Neighboring gene TCEAL8 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
EBI GWAS Catalog
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
EBI GWAS Catalog
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
EBI GWAS Catalog
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
EBI GWAS Catalog
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp586O1624

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 hair cycle process IEA
Inferred from Electronic Annotation
more info
 
involved_in innervation IEA
Inferred from Electronic Annotation
more info
 
involved_in otolith morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
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 plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
leucine-rich repeats and immunoglobulin-like domains protein 1
Names
leucine-rich repeat protein LRIG1
ortholog of mouse integral membrane glycoprotein LIG-1

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_001377344.1NP_001364273.1  leucine-rich repeats and immunoglobulin-like domains protein 1 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC092034, AC099665, AC126122
    UniProtKB/TrEMBL
    Q5XWD3
    Conserved Domains (9) summary
    smart00082
    Location:417465
    LRRCT; Leucine rich repeat C-terminal domain
    COG4886
    Location:67303
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:116139
    LRR_RI; leucine-rich repeat [structural motif]
    pfam07679
    Location:668755
    I-set; Immunoglobulin I-set domain
    pfam13855
    Location:358417
    LRR_8; Leucine rich repeat
    pfam13927
    Location:469556
    Ig_3; Immunoglobulin domain
    cd00096
    Location:685689
    Ig; Ig strand B [structural motif]
    cd05763
    Location:575665
    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
    cd21340
    Location:187374
    PPP1R42; protein phosphatase 1 regulatory subunit 42
  2. NM_001377345.1NP_001364274.1  leucine-rich repeats and immunoglobulin-like domains protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC092034, AC099665, AC126122
    Conserved Domains (7) summary
    smart00082
    Location:182230
    LRRCT; Leucine rich repeat C-terminal domain
    sd00033
    Location:324
    LRR_RI; leucine-rich repeat [structural motif]
    pfam07679
    Location:433520
    I-set; Immunoglobulin I-set domain
    pfam13855
    Location:80134
    LRR_8; Leucine rich repeat
    pfam13927
    Location:234321
    Ig_3; Immunoglobulin domain
    cd00096
    Location:450454
    Ig; Ig strand B [structural motif]
    cd05763
    Location:340430
    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
  3. NM_001377346.1NP_001364275.1  leucine-rich repeats and immunoglobulin-like domains protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC092034, AC099665, AC126122
    Conserved Domains (7) summary
    smart00082
    Location:182230
    LRRCT; Leucine rich repeat C-terminal domain
    sd00033
    Location:324
    LRR_RI; leucine-rich repeat [structural motif]
    pfam07679
    Location:433520
    I-set; Immunoglobulin I-set domain
    pfam13855
    Location:80134
    LRR_8; Leucine rich repeat
    pfam13927
    Location:234321
    Ig_3; Immunoglobulin domain
    cd00096
    Location:450454
    Ig; Ig strand B [structural motif]
    cd05763
    Location:340430
    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
  4. NM_001377347.1NP_001364276.1  leucine-rich repeats and immunoglobulin-like domains protein 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC092034, AC099665, AC126122
    Related
    ENST00000496559.6
    Conserved Domains (8) summary
    smart00082
    Location:108156
    LRRCT; Leucine rich repeat C-terminal domain
    sd00031
    Location:5073
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:126153
    LRR_RI; leucine-rich repeat [structural motif]
    pfam07679
    Location:359446
    I-set; Immunoglobulin I-set domain
    pfam13855
    Location:49108
    LRR_8; Leucine rich repeat
    pfam13927
    Location:160247
    Ig_3; Immunoglobulin domain
    cd00096
    Location:376380
    Ig; Ig strand B [structural motif]
    cd05763
    Location:266356
    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
  5. NM_001377348.1NP_001364277.1  leucine-rich repeats and immunoglobulin-like domains protein 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC092034, AC099665, AC126122
    Conserved Domains (8) summary
    smart00082
    Location:99147
    LRRCT; Leucine rich repeat C-terminal domain
    sd00031
    Location:4164
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:117144
    LRR_RI; leucine-rich repeat [structural motif]
    pfam07679
    Location:350437
    I-set; Immunoglobulin I-set domain
    pfam13855
    Location:4099
    LRR_8; Leucine rich repeat
    pfam13927
    Location:151238
    Ig_3; Immunoglobulin domain
    cd00096
    Location:367371
    Ig; Ig strand B [structural motif]
    cd05763
    Location:257347
    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
  6. NM_001377349.1NP_001364278.1  leucine-rich repeats and immunoglobulin-like domains protein 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC092034, AC099665, AC126122
    Conserved Domains (5) summary
    smart00082
    Location:1462
    LRRCT; Leucine rich repeat C-terminal domain
    pfam07679
    Location:265352
    I-set; Immunoglobulin I-set domain
    pfam13927
    Location:66153
    Ig_3; Immunoglobulin domain
    cd00096
    Location:273276
    Ig; Ig strand A' [structural motif]
    cd05763
    Location:172262
    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
  7. NM_015541.3NP_056356.2  leucine-rich repeats and immunoglobulin-like domains protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_056356.2

    Status: VALIDATED

    Source sequence(s)
    AB050468, AC099665, AF381545, BC014276
    Consensus CDS
    CCDS33783.1
    UniProtKB/Swiss-Prot
    Q6IQ51, Q96CF9, Q96JA1, Q9BYB8, Q9UFI4
    UniProtKB/TrEMBL
    Q5XWD3
    Related
    ENSP00000273261.3, ENST00000273261.8
    Conserved Domains (9) summary
    cd00096
    Location:512586
    Ig; Immunoglobulin domain
    cd05763
    Location:616690
    Ig_1; Subgroup of the immunoglobulin (Ig) superfamily
    smart00408
    Location:707770
    IGc2; Immunoglobulin C-2 Type
    smart00082
    Location:442490
    LRRCT; Leucine rich repeat C-terminal domain
    cd00116
    Location:131416
    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:599689
    I-set; Immunoglobulin I-set domain
    sd00031
    Location:117140
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:141164
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:211271
    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    66378797..66501121 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047447939.1XP_047303895.1  leucine-rich repeats and immunoglobulin-like domains protein 1 isoform X2

  2. XM_011533578.3XP_011531880.1  leucine-rich repeats and immunoglobulin-like domains protein 1 isoform X1

    UniProtKB/TrEMBL
    Q5XWD3
    Conserved Domains (9) summary
    cd00096
    Location:464538
    Ig; Immunoglobulin domain
    cd05763
    Location:568642
    Ig_1; Subgroup of the immunoglobulin (Ig) superfamily
    smart00408
    Location:659722
    IGc2; Immunoglobulin C-2 Type
    smart00082
    Location:394442
    LRRCT; Leucine rich repeat C-terminal domain
    cd00116
    Location:73320
    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:551641
    I-set; Immunoglobulin I-set domain
    sd00033
    Location:141164
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:360391
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:211271
    LRR_8; Leucine rich repeat
  3. XM_017006135.2XP_016861624.2  leucine-rich repeats and immunoglobulin-like domains protein 1 isoform X3

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_012132916.1 Reference GRCh38.p14 PATCHES

    Range
    355693..371107 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    66423367..66545661 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346123.1XP_054202098.1  leucine-rich repeats and immunoglobulin-like domains protein 1 isoform X2

  2. XM_054346122.1XP_054202097.1  leucine-rich repeats and immunoglobulin-like domains protein 1 isoform X1

  3. XM_054346124.1XP_054202099.1  leucine-rich repeats and immunoglobulin-like domains protein 1 isoform X3