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

    Gene ID: 3977, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:6597
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See LIFR in Genome Data Viewer
    Location:
    5p13.1
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (38474668..38608403, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (38723737..38857447, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (38474770..38595507, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene EGF like, fibronectin type III and laminin G domains Neighboring gene uncharacterized LOC105374732 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:38463193-38464392 Neighboring gene uncharacterized LOC124900964 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:38466368-38467567 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:38468935-38469806 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:38556889-38557672 Neighboring gene uncharacterized LOC105374735 Neighboring gene LIFR antisense RNA 1 Neighboring gene microRNA 3650 Neighboring gene Sharpr-MPRA regulatory region 9095 Neighboring gene OSMR divergent transcript 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

    General gene information

    Clone Names

    • FLJ98106, FLJ99923

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in external side of plasma membrane  
    located_in extracellular exosome PubMed 
    located_in plasma membrane  
    part_of receptor complex  
    part_of receptor complex 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)

    NEW Try the new Transcript table

    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_011817.2 RefSeqGene

      Range
      56757..138735
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127671.2 → NP_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, Q6LCD9
      UniProtKB/TrEMBL
      A8K1Z4
      Related
      ENSP00000398368.2, ENST00000453190.7
      Conserved Domains (2) summary
      cd00063
      Location:433 → 530
      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:552 → 619
      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_001364297.2 → NP_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
      Consensus CDS
      CCDS3927.1
      UniProtKB/Swiss-Prot
      P42702, Q6LCD9
      UniProtKB/TrEMBL
      A8K1Z4
      Conserved Domains (2) summary
      cd00063
      Location:433 → 530
      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:552 → 619
      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_001364298.2 → NP_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
      UniProtKB/TrEMBL
      A8K1Z4
      Conserved Domains (2) summary
      cd00063
      Location:433 → 530
      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:552 → 619
      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_002310.6 → NP_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, Q6LCD9
      UniProtKB/TrEMBL
      A8K1Z4
      Related
      ENSP00000263409.4, ENST00000263409.8
      Conserved Domains (2) summary
      cd00063
      Location:433 → 530
      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:552 → 619
      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: 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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      38474668..38608403 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      P42702, Q6LCD9
      UniProtKB/TrEMBL
      A8K1Z4
      Conserved Domains (2) summary
      cd00063
      Location:433 → 530
      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:552 → 619
      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. XM_047417172.1 → XP_047273128.1  leukemia inhibitory factor receptor isoform X1

      UniProtKB/TrEMBL
      A8K1Z4
    3. XM_011514042.4 → XP_011512344.1  leukemia inhibitory factor receptor isoform X2

      See identical proteins and their annotated locations for XP_011512344.1

      UniProtKB/Swiss-Prot
      P42702, Q6LCD9
      UniProtKB/TrEMBL
      A8K1Z4
      Conserved Domains (2) summary
      cd00063
      Location:433 → 530
      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:552 → 619
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      38723737..38857447 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352577.1 → XP_054208552.1  leukemia inhibitory factor receptor isoform X2

      UniProtKB/TrEMBL
      A8K1Z4
    2. XM_054352576.1 → XP_054208551.1  leukemia inhibitory factor receptor isoform X1

      UniProtKB/TrEMBL
      A8K1Z4
    3. XM_054352578.1 → XP_054208553.1  leukemia inhibitory factor receptor isoform X2

      UniProtKB/TrEMBL
      A8K1Z4
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