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LIFR LIF receptor subunit alpha [ Homo sapiens (human) ]

Gene ID: 3977, updated on 29-Aug-2020

Summary

Official Symbol
LIFRprovided by HGNC
Official Full Name
LIF receptor subunit alphaprovided by HGNC
Primary source
HGNC:HGNC:6597
See related
Ensembl:ENSG00000113594 MIM:151443
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

Genomic context

See LIFR in Genome Data Viewer
Location:
5p13.1
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (38474668..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

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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 

General protein information

Preferred Names
leukemia inhibitory factor receptor
Names
CD118 antigen
LIF receptor alpha
leukemia inhibitory factor receptor alpha

NCBI Reference Sequences (RefSeq)

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..125738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127671.2NP_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, ENST00000453190.7
    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 ...
    cl21522
    Location:552619
    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 ...
  2. NM_001364297.2NP_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
    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 ...
    cl21522
    Location:552619
    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 ...
  3. NM_001364298.2NP_001351227.1  leukemia inhibitory factor receptor isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice junction compared to variant 3. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC010457, AC091823
    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 ...
    cl21522
    Location:552619
    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 ...
  4. NM_002310.6NP_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, ENST00000263409.8
    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 ...
    cl21522
    Location:552619
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    38474668..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 ...
    cl21522
    Location:552619
    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 ...
  3. 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 ...
    cl21522
    Location:552619
    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 ...
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