LIFR

Protein identityUniProt · HPA

UniProt accession

P42702

Gene

LIFR

Ensembl

ENSG00000113594

Chromosome

5

Canonical length

1097 aa

Protein class

Cancer-related genes, CD markers, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins

Secretome location

Intracellular and membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1097 residues, UniProt reviewed canonical sequence.

>P42702|LIFR
     1  MMDIYVCLKR PSWMVDNKRM RTASNFQWLL STFILLYLMN QVNSQKKGAP HDLKCVTNNL
    61  QVWNCSWKAP SGTGRGTDYE VCIENRSRSC YQLEKTSIKI PALSHGDYEI TINSLHDFGS
   121  STSKFTLNEQ NVSLIPDTPE ILNLSADFST STLYLKWNDR GSVFPHRSNV IWEIKVLRKE
   181  SMELVKLVTH NTTLNGKDTL HHWSWASDMP LECAIHFVEI RCYIDNLHFS GLEEWSDWSP
   241  VKNISWIPDS QTKVFPQDKV ILVGSDITFC CVSQEKVLSA LIGHTNCPLI HLDGENVAIK
   301  IRNISVSASS GTNVVFTTED NIFGTVIFAG YPPDTPQQLN CETHDLKEII CSWNPGRVTA
   361  LVGPRATSYT LVESFSGKYV RLKRAEAPTN ESYQLLFQML PNQEIYNFTL NAHNPLGRSQ
   421  STILVNITEK VYPHTPTSFK VKDINSTAVK LSWHLPGNFA KINFLCEIEI KKSNSVQEQR
   481  NVTIKGVENS SYLVALDKLN PYTLYTFRIR CSTETFWKWS KWSNKKQHLT TEASPSKGPD
   541  TWREWSSDGK NLIIYWKPLP INEANGKILS YNVSCSSDEE TQSLSEIPDP QHKAEIRLDK
   601  NDYIISVVAK NSVGSSPPSK IASMEIPNDD LKIEQVVGMG KGILLTWHYD PNMTCDYVIK
   661  WCNSSRSEPC LMDWRKVPSN STETVIESDE FRPGIRYNFF LYGCRNQGYQ LLRSMIGYIE
   721  ELAPIVAPNF TVEDTSADSI LVKWEDIPVE ELRGFLRGYL FYFGKGERDT SKMRVLESGR
   781  SDIKVKNITD ISQKTLRIAD LQGKTSYHLV LRAYTDGGVG PEKSMYVVTK ENSVGLIIAI
   841  LIPVAVAVIV GVVTSILCYR KREWIKETFY PDIPNPENCK ALQFQKSVCE GSSALKTLEM
   901  NPCTPNNVEV LETRSAFPKI EDTEIISPVA ERPEDRSDAE PENHVVVSYC PPIIEEEIPN
   961  PAADEAGGTA QVIYIDVQSM YQPQAKPEEE QENDPVGGAG YKPQMHLPIN STVEDIAAEE
  1021  DLDKTAGYRP QANVNTWNLV SPDSPRSIDS NSEIVSFGSP CSINSRQFLI PPKDEDSPKS
  1081  NGGGWSFTNF FQNKPND

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LIFR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.4

Highest tissue expression

47 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LIFR.

Disease | AllUniProt

Conditions LIFR is implicated in, by any mechanism.

• Stuve-Wiedemann syndrome 1 (STWS1) MIM:601559

Disease | GeneticClinVar

173 pathogenic / likely-pathogenic of 1,413 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Stuve-Wiedemann syndrome
• Stüve-Wiedemann syndrome 1
• Congenital anomaly of kidney and urinary tract
• Cervical cancer

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.71

gnomAD pLI

0

gnomAD missense Z

0.24

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell surface receptor signaling pathway
• ciliary neurotrophic factor-mediated signaling pathway
• cytokine-mediated signaling pathway
• leukemia inhibitory factor signaling pathway
• oncostatin-M-mediated signaling pathway
• positive regulation of cell population proliferation
• response to cytokine

Molecular functions

• ciliary neurotrophic factor receptor binding
• cytokine binding
• cytokine receptor activity
• growth factor binding
• leukemia inhibitory factor receptor activity

Cellular components

• external side of plasma membrane
• extracellular exosome
• plasma membrane
• receptor complex

Protein domainsUniProt · Pfam · InterPro

• Long hematopoietin receptor, Gp130 family 2, conserved site
• Fibronectin type III
• Immunoglobulin-like fold
• Fibronectin type III superfamily
• Leukemia inhibitory factor receptor, D2 domain
• Leukemia inhibitory factor receptor-like, Ig-like domain
• Type I Cytokine Receptor
• Fibronectin type III domain
• Leukemia inhibitory factor receptor D2 domain
• Leukemia inhibitory factor receptor, Ig-like domain
• Leukemia inhibitory factor receptor D4 domain
• Leukemia inhibitory factor receptor, N-terminal
• Leukemia inhibitory factor receptor N-terminal domain

KeywordsUniProt

• Cell membrane
• Chromosomal rearrangement
• Disulfide bond
• Glycoprotein
• Membrane
• Phosphoprotein
• Receptor
• Repeat
• Secreted
• Signal
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of LIFR in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CNTFR