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

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: mouse all
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Genomic context

Location:: 5p13.1

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (38474668..38608403, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (38723737..38857447, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (38474770..38595507, complement)

Chromosome 5 - NC_000005.10 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
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?

Intrahepatic paracrine signaling by cardiotrophin-like cytokine factor 1 ameliorates diet-induced NASH in mice.
Title: Intrahepatic paracrine signaling by cardiotrophin-like cytokine factor 1 ameliorates diet-induced NASH in mice.
Interplay of "leukemia inhibitory factor receptor gene" (rs3099124) polymorphism, leukemia inhibitory factor and ovarian steroids with unexplained infertility.
Title: Interplay of "leukemia inhibitory factor receptor gene" (rs3099124) polymorphism, leukemia inhibitory factor and ovarian steroids with unexplained infertility.
Role and mechanism of leukemia inhibitory factor receptor in cervical cancer invasion and metastasis.
Title: Role and mechanism of leukemia inhibitory factor receptor in cervical cancer invasion and metastasis.
CircLIFR Inhibits Non-small Cell Lung Cancer Progression by Acting as a miR-429 Sponge to Enhance CELF2 Expression.
Title: CircLIFR Inhibits Non-small Cell Lung Cancer Progression by Acting as a miR-429 Sponge to Enhance CELF2 Expression.
Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.
Title: Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.
The Pleiotropic role, functions and targeted therapies of LIF/LIFR axis in cancer: Old spectacles with new insights.
Title: The Pleiotropic role, functions and targeted therapies of LIF/LIFR axis in cancer: Old spectacles with new insights.
Malignant transformation of salivary gland pleomorphic adenoma: proof of principle.
Title: Malignant transformation of salivary gland pleomorphic adenoma: proof of principle.
A targetable LIFR-NF-kappaB-LCN2 axis controls liver tumorigenesis and vulnerability to ferroptosis.
Title: A targetable LIFR-NF-κB-LCN2 axis controls liver tumorigenesis and vulnerability to ferroptosis.
CircLIFR synergizes with MSH2 to attenuate chemoresistance via MutSalpha/ATM-p73 axis in bladder cancer.
Title: CircLIFR synergizes with MSH2 to attenuate chemoresistance via MutSα/ATM-p73 axis in bladder cancer.
Association of novel stop-gained leukaemia inhibitory factor receptor gene (rs121912501) variant, leukaemia inhibitory factor and ovarian steroids with unexplained infertility among Pakistani women.
Title: Association of novel stop-gained leukaemia inhibitory factor receptor gene (rs121912501) variant, leukaemia inhibitory factor and ovarian steroids with unexplained infertility among Pakistani women.

Submit: New GeneRIF Correction See all GeneRIFs (72)

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

Associated conditions

Description	Tests
Stuve-Wiedemann syndrome 1 MedGen: C5676888 OMIM: 601559 GeneReviews: Not available	Compare labs

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

human.LIFR (e-PCR)
- UniSTS:181772

D5S1675E (e-PCR)
- UniSTS:151064

G19191 (e-PCR)
- UniSTS:14624

RH26031 (e-PCR)
- UniSTS:87596

D5S2642 (e-PCR)
- UniSTS:69941

RH93532 (e-PCR)
- UniSTS:89153

STS-R38064 (e-PCR)
- UniSTS:65610

RH65436 (e-PCR)
- UniSTS:89949

SHGC-52479 (e-PCR)
- UniSTS:28269

RH91753 (e-PCR)
- UniSTS:89967

D5S2471 (e-PCR)
- UniSTS:5248

RH41252 (e-PCR)
- UniSTS:90279

RH65837 (e-PCR)
- UniSTS:92084

RH48815 (e-PCR)
- UniSTS:2234

PMC311006P4 (e-PCR)
- UniSTS:272831

LIFR_185 (e-PCR)
- UniSTS:277451

D5S1570E (e-PCR)
- UniSTS:150998

SHGC-60516 (e-PCR)
- UniSTS:30425

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to ciliary neurotrophic factor receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables ciliary neurotrophic factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables ciliary neurotrophic factor receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables cytokine binding	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to leukemia inhibitory factor receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables 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
contributes_to oncostatin-M receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in ciliary neurotrophic factor-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cytokine-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in leukemia inhibitory factor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in oncostatin-M-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in response to cytokine	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: leukemia inhibitory factor receptor

Names: CD118 antigen; LIF receptor alpha; leukemia inhibitory factor receptor alpha

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.

Genomic

NG_011817.2 RefSeqGene

Range

56757..138735

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...
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 ...
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

38474668..38608403 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
XM_047417172.1 → XP_047273128.1 leukemia inhibitory factor receptor isoform X1
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 ...