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LIFR LIF receptor alpha [ Homo sapiens (human) ]

Gene ID: 3977, updated on 14-Jun-2018
Official Symbol
LIFRprovided by HGNC
Official Full Name
LIF receptor alphaprovided by HGNC
Primary source
HGNC:HGNC:6597
See related
Ensembl:ENSG00000113594 MIM:151443; Vega:OTTHUMG00000131138
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
SWS; SJS2; STWS; CD118; LIF-R
Summary
This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018]
Expression
Ubiquitous expression in fat (RPKM 34.2), endometrium (RPKM 21.9) and 24 other tissues See more
Orthologs
See LIFR in Genome Data Viewer
Location:
5p13.1
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (38474963..38606290, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (38475065..38595507, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene EGF like, fibronectin type III and laminin G domains Neighboring gene 60S ribosomal protein L27 pseudogene Neighboring gene uncharacterized LOC105374732 Neighboring gene uncharacterized LOC105374735 Neighboring gene LIFR antisense RNA 1 Neighboring gene microRNA 3650 Neighboring gene OSMR antisense RNA 1 (head to head) Neighboring gene long intergenic non-protein coding RNA 1265 Neighboring gene transmembrane protein 126A pseudogene

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Adipogenesis, organism-specific biosystem (from WikiPathways)
    Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • IL-6-type cytokine receptor ligand interactions, organism-specific biosystem (from REACTOME)
    IL-6-type cytokine receptor ligand interactions, organism-specific biosystemThe members involved in (interleukin)-6-type cytokine signalling are the IL-6, IL-11, LIF (leukaemia inhibitory factor), OSM (oncostatin M), ciliary neurotrophic factor (CNTF), cardiotrophin-1 (CTF1)...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Interleukin-6 family signaling, organism-specific biosystem (from REACTOME)
    Interleukin-6 family signaling, organism-specific biosystemThe interleukin (IL)-6 family of cytokines is defined by the shared use of the common signal transducing receptor gp130 beta-subunit. This family includes structurally and functionally related IL-6, ...
  • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
    Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
    Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Oncostatin M Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Oncostatin M Signaling Pathway, organism-specific biosystemOncostatin M (OSM) is a member of the multifunctional cytokine interleukin 6 (IL6) - type cytokine family. It is mainly produced in cell types such as activated T lymphocytes, macrophages, monocytes,...
  • Physiological and Pathological Hypertrophy of the Heart, organism-specific biosystem (from WikiPathways)
    Physiological and Pathological Hypertrophy of the Heart, organism-specific biosystemPathways in physiological and pathological hypertrophy of the heart. Largely based on the article from Wang Y; ''Signal transduction in cardiac hypertrophy--dissecting compensatory versus pathologica...
  • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
    Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
  • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ98106, FLJ99923

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to ciliary neurotrophic factor receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
ciliary neurotrophic factor receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary neurotrophic factor receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
cytokine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
CONTRIBUTES_TO leukemia inhibitory factor receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
leukemia inhibitory factor receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to leukemia inhibitory factor receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
CONTRIBUTES_TO oncostatin-M receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to oncostatin-M receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular exosome HDA PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
leukemia inhibitory factor receptor
Names
CD118 antigen
LIF receptor
leukemia inhibitory factor receptor alpha

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.

Genomic

  1. NG_011817.1 RefSeqGene

    Range
    5001..125443
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127671.1NP_001121143.1  leukemia inhibitory factor receptor isoform a precursor

    See identical proteins and their annotated locations for NP_001121143.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AC010457, AK290059, BP219669
    Consensus CDS
    CCDS3927.1
    UniProtKB/Swiss-Prot
    P42702
    UniProtKB/TrEMBL
    A8K1Z4
    Related
    ENSP00000398368.2, OTTHUMP00000221308, ENST00000453190.6, OTTHUMT00000367350
    Conserved Domains (2) summary
    cd00063
    Location:433530
    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 ...
    pfam00041
    Location:556619
    fn3; Fibronectin type III domain
  2. NM_001364297.1NP_001351226.1  leukemia inhibitory factor receptor isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes isoform a. Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AC010457, AC091823
  3. NM_002310.5NP_002301.1  leukemia inhibitory factor receptor isoform a precursor

    See identical proteins and their annotated locations for NP_002301.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AC010457, BQ008945, DA857408, X61615
    Consensus CDS
    CCDS3927.1
    UniProtKB/Swiss-Prot
    P42702
    Related
    ENSP00000263409.4, OTTHUMP00000161786, ENST00000263409.8, OTTHUMT00000253823
    Conserved Domains (2) summary
    cd00063
    Location:433530
    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 ...
    pfam00041
    Location:556619
    fn3; Fibronectin type III domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    38474963..38606290 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009462.1XP_016864951.1  leukemia inhibitory factor receptor isoform X1

  2. XM_017009463.1XP_016864952.1  leukemia inhibitory factor receptor isoform X2

    UniProtKB/Swiss-Prot
    P42702
    Conserved Domains (2) summary
    cd00063
    Location:433530
    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 ...
    pfam00041
    Location:556619
    fn3; Fibronectin type III domain
  3. XM_011514040.3XP_011512342.1  leukemia inhibitory factor receptor isoform X2

    UniProtKB/Swiss-Prot
    P42702
    Conserved Domains (2) summary
    cd00063
    Location:433530
    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 ...
    pfam00041
    Location:556619
    fn3; Fibronectin type III domain
  4. XM_011514042.3XP_011512344.1  leukemia inhibitory factor receptor isoform X2

    See identical proteins and their annotated locations for XP_011512344.1

    UniProtKB/Swiss-Prot
    P42702
    Conserved Domains (2) summary
    cd00063
    Location:433530
    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 ...
    pfam00041
    Location:556619
    fn3; Fibronectin type III domain
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