LIFR_HUMAN
Source:
PM23856902
BD_CD
Marked as 'Integral membrane protein'
Confidence:
high (a blood group or CD marker)
Search PubMed for
(RBC AND this entry)
Gene names:
LIFR
Protein names and data:
LIFR_HUMAN
, Leukemia inhibitory factor receptor; LIF receptor; LIF-R
, CD118; Flags: Precursor
Lenght: 1097 a.a.
Mass: 123743 Da
fasta formatted sequence
Function:
Signal-transducing molecule. May have a common pathway with IL6ST. The soluble form inhibits the biological activity of LIF by blocking its binding to receptors on target cells.
Disease:
( OMIM:
151443
601559
)
Stueve-Wiedemann syndrome (STWS) [MIM:601559]: Severe autosomal recessive condition and belongs to the group of the bent-bone dysplasias. SWS is characterized by bowing of the lower limbs, with internal cortical thickening, wide metaphyses with abnormal trabecular pattern, and camptodactyly. Additional features include feeding and swallowing difficulties, as well as respiratory distress and hyperthermic episodes, which cause death in the first months of life. The rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue. Note=The disease is caused by mutations affecting the gene represented in this entry. Note=A chromosomal aberration involving LIFR is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(5;8)(p13;q12) with PLAG1.
Cellular location:
Isoform 1: Cell membrane; Single-pass type I membrane protein. Isoform 2: Secreted.
Genetic variants
116 - 116
H -> Y (in dbSNP:rs3729734). VAR_029109
3729734
279 - 279
S -> P (in STWS). VAR_025666
578 - 578
D -> N (in dbSNP:rs3729740). VAR_029110
3729740
633 - 633
I -> M (in dbSNP:rs2303743). VAR_021996
2303743
664 - 664
S -> L (in dbSNP:rs3729744). VAR_038626
3729744
785 - 785
V -> I (in dbSNP:rs3110234). VAR_029111
3110234
1068 - 1068
F -> L (in a colorectal cancer sample; somatic mutation). VAR_036166
Database cross-references
UniProt:
P42702
Ensembl:
ENST00000263409
Ensembl:
ENST00000453190
MIM:
151443
MIM:
601559
neXtProt:
NX_P42702
Antibodypedia:
P42702
(may not find the protein thus also not any antibody)
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