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LIFR leukemia inhibitory factor receptor alpha [ Homo sapiens (human) ]

Gene ID: 3977, updated on 21-Mar-2015
Official Symbol
LIFRprovided by HGNC
Official Full Name
leukemia inhibitory factor receptor alphaprovided by HGNC
Primary source
HGNC:HGNC:6597
See related
Ensembl:ENSG00000113594; HPRD:01048; 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 the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Orthologs
See LIFR in MapViewer
Location:
5p13-p12
Exon count:
24
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (38474963..38595405, 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 EGFLAM antisense RNA 2 Neighboring gene uncharacterized LOC105374732 Neighboring gene uncharacterized LOC105374735 Neighboring gene LIFR antisense RNA 1 Neighboring gene microRNA 3650 Neighboring gene uncharacterized LOC105374734 Neighboring gene OSMR antisense RNA 1 (head to head) Neighboring gene long intergenic non-protein coding RNA 1265

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-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 ...
  • 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 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

Component Evidence Code Pubs
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
leukemia inhibitory factor receptor
Names
leukemia inhibitory factor receptor
CD118 antigen
LIF receptor

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 precursor

    See proteins identical to NP_001121143.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC010457, AK290059, BP219669
    Consensus CDS
    CCDS3927.1
    UniProtKB/TrEMBL
    A8K1Z4
    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 ...
    pfam06278
    Location:8961004
    DUF1032; Protein of unknown function (DUF1032)
  2. NM_002310.5NP_002301.1  leukemia inhibitory factor receptor precursor

    See proteins identical to NP_002301.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC010457, BQ008945, DA857408, X61615
    Consensus CDS
    CCDS3927.1
    UniProtKB/Swiss-Prot
    P42702
    Related
    ENSP00000263409, OTTHUMP00000161786, ENST00000263409, 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 ...
    pfam06278
    Location:8961004
    DUF1032; Protein of unknown function (DUF1032)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    38474963..38595405
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514040.1XP_011512342.1  

    See proteins identical to XP_011512342.1

    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 ...
    pfam06278
    Location:8961004
    DUF1032; Protein of unknown function (DUF1032)
  2. XM_011514042.1XP_011512344.1  

    See proteins identical to XP_011512344.1

    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 ...
    pfam06278
    Location:8961004
    DUF1032; Protein of unknown function (DUF1032)
  3. XM_011514041.1XP_011512343.1  

    See proteins identical to XP_011512343.1

    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 ...
    pfam06278
    Location:8961004
    DUF1032; Protein of unknown function (DUF1032)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    38476985..38597458
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)