IFNLR1 interferon lambda receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IFNLR1provided by HGNC
Official Full Name: interferon lambda receptor 1provided by HGNC
Primary source: HGNC:HGNC:18584
See related: Ensembl:ENSG00000185436 MIM:607404; AllianceGenome:HGNC:18584
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IFNLR; LICR2; IL28RA; CRF2/12; IL-28R1
Summary: The protein encoded by this gene belongs to the class II cytokine receptor family. This protein forms a receptor complex with interleukine 10 receptor, beta (IL10RB). The receptor complex has been shown to interact with three closely related cytokines, including interleukin 28A (IL28A), interleukin 28B (IL28B), and interleukin 29 (IL29). The expression of all three cytokines can be induced by viral infection. The cells overexpressing this protein have been found to have enhanced responses to IL28A and IL29, but decreased response to IL28B. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Expression: Broad expression in small intestine (RPKM 5.6), lymph node (RPKM 4.0) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.11

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (24154168..24187289, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (23991876..24024975, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (24480658..24513779, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interferon lambda receptor-1 isoforms differentially influence gene expression and HBV replication in stem cell-derived hepatocytes.
Title: Interferon lambda receptor-1 isoforms differentially influence gene expression and HBV replication in stem cell-derived hepatocytes.
Influence of Canonical and Non-Canonical IFNLR1 Isoform Expression on Interferon Lambda Signaling.
Title: Influence of Canonical and Non-Canonical IFNLR1 Isoform Expression on Interferon Lambda Signaling.
Downregulated expression of IL28RA is involved in the pathogenesis of pancreatic ductal adenocarcinoma.
Title: Downregulated expression of IL‑28RA is involved in the pathogenesis of pancreatic ductal adenocarcinoma.
Interferon III-related IL28RA variant is associated with rheumatoid arthritis and systemic lupus erythematosus and specific disease sub-phenotypes.
Title: Interferon III-related IL28RA variant is associated with rheumatoid arthritis and systemic lupus erythematosus and specific disease sub-phenotypes.
Association of TNFRSF1A and IFNLR1 Gene Polymorphisms with the Risk of Developing Breast Cancer and Clinical Pathologic Features.
Title: Association of TNFRSF1A and IFNLR1 Gene Polymorphisms with the Risk of Developing Breast Cancer and Clinical Pathologic Features.
Genetic Polymorphisms of the IFNLR1 Gene Correlate with HCV Infection and Biochemical Features of Chronic HCV Patients in Yunnan, China.
Title: Genetic Polymorphisms of the IFNLR1 Gene Correlate with HCV Infection and Biochemical Features of Chronic HCV Patients in Yunnan, China.
Significance of IL28RA in diagnosis of early pancreatic cancer and its regulation to pancreatic cancer cells by JAK/STAT signaling pathway - effects of IL28RA on pancreatic cancer.
Title: Significance of IL28RA in diagnosis of early pancreatic cancer and its regulation to pancreatic cancer cells by JAK/STAT signaling pathway - effects of IL28RA on pancreatic cancer.
Differential expression of interferon-lambda receptor 1 splice variants determines the magnitude of the antiviral response induced by interferon-lambda 3 in human immune cells.
Title: Differential expression of interferon-lambda receptor 1 splice variants determines the magnitude of the antiviral response induced by interferon-lambda 3 in human immune cells.
This study was designed to explore the genetic etiology of deafness in a large Chinese family with autosomal dominant, nonsyndromic, progressive sensorineural hearing loss (ADNSHL). Inner ear expression of Ifnlr1 was investigated by immunostaining in mice. ifnlr1 Morpholino knockdown Zebrafish were constructed to explore the deafness mechanism.. IFNLR1 mutations are associated with ADNSHL
Title: Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss.
Interferon lambda receptor 1 (IFNLR1) mRNA is increased in human rhinovirus (HRV) bronchiolitis infants. Increased IFNLR1 transcript levels characterized HRV-infected infants with more severe bronchiolitis and blood eosinophilia. IFNLR1 transcript is increased in infants infected with HRVC species.
Title: Interferon lambda receptor 1 (IFNL1R) transcript is highly expressed in rhinovirus bronchiolitis and correlates with disease severity.

Submit: New GeneRIF Correction See all GeneRIFs (35)

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

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-146707 (e-PCR)
- UniSTS:175385

D1S1152 (e-PCR)
- UniSTS:57881

SHGC-56802 (e-PCR)
- UniSTS:30504

D8S2279 (e-PCR)
- UniSTS:473907

NoName (e-PCR)
- UniSTS:484154

D1S1425 (e-PCR)
- UniSTS:149621

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-56929 (e-PCR)
- UniSTS:54684

NoName (e-PCR)
- UniSTS:481695

RH102903 (e-PCR)
- UniSTS:97237

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to cytokine receptor activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to virus	NAS Non-traceable Author Statement more info	PubMed
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to virus	ISS Inferred from Sequence or Structural Similarity more info
involved_in mucosal immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell population proliferation	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of cellular respiration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of defense response to virus by host	IDA Inferred from Direct Assay more info	PubMed
involved_in response to type III interferon	ISS Inferred from Sequence or Structural Similarity more info
involved_in type III interferon-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of interleukin-28 receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: interferon lambda receptor 1

Names: CRF2-12; IFN-lambda receptor 1; IFN-lambda-R1; IL-28 receptor subunit alpha; IL-28R-alpha; IL-28RA; class II cytokine receptor CRF2/12; cytokine receptor class-II member 12; cytokine receptor family 2 member 12; interleukin 28 alpha receptor; interleukin 28 receptor A; interleukin 28 receptor, alpha (interferon, lambda receptor); interleukin or cytokine receptor 2; interleukin-28 receptor subunit alpha; likely interleukin or cytokine receptor 2

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)

NM_170743.4 → NP_734464.1 interferon lambda receptor 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_734464.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).

Source sequence(s)

AF439325, AL590683, BC140872

Consensus CDS

CCDS248.1

UniProtKB/Swiss-Prot

Q5VTX5, Q5VTX7, Q5VTX8, Q6ZML8, Q8IU57, Q8IV66, Q8IZI7, Q8IZI8

UniProtKB/TrEMBL

H2DF04

Related

ENSP00000327824.1, ENST00000327535.6

Conserved Domains (1) summary

pfam01108
Location:19 → 111

Tissue_fac; Tissue factor
NM_173064.3 → NP_775087.1 interferon lambda receptor 1 isoform 2 precursor

See identical proteins and their annotated locations for NP_775087.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame 3' coding segment, compared to variant 1. The resulting isoform (2) has a shorter C-terminus when it is compared to isoform 1.

Source sequence(s)

AF439325, AL590683, AY129152, CN289861

Consensus CDS

CCDS249.1

UniProtKB/TrEMBL

H2DF04

Related

ENSP00000363542.3, ENST00000374421.7

Conserved Domains (1) summary

pfam01108
Location:19 → 111

Tissue_fac; Tissue factor
NM_173065.3 → NP_775088.1 interferon lambda receptor 1 isoform 3 precursor

See identical proteins and their annotated locations for NP_775088.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks one alternate segment and contains another in the 3' coding region which leads to a translation frameshift, as compared to variant 1. The resulting isoform (3) has a distinct and shorter C-terminus, as compared to isoform 1.

Source sequence(s)

AF439325, AJ534331, AL590683, CN289861

Consensus CDS

CCDS250.1

UniProtKB/Swiss-Prot

Q8IU57

Related

ENSP00000328994.2, ENST00000327575.6

Conserved Domains (1) summary

pfam01108
Location:19 → 111

Tissue_fac; Tissue factor

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

24154168..24187289 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017000479.2 → XP_016855968.1 interferon lambda receptor 1 isoform X2

UniProtKB/TrEMBL

H2DF04
XM_006710394.5 → XP_006710457.2 interferon lambda receptor 1 isoform X1

UniProtKB/TrEMBL

H2DF04

Conserved Domains (1) summary

cl21522
Location:29 → 80

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...