P42702

※ Protein Information

Tag	Content
UniProt Accession	LIFR_HUMAN; P42702;
Entrez ID	3977
GenBank Protein ID	NM_001127671.1; NM_002310.5; XM_011514040.2; XM_011514042.2; XM_017009463.1;
GenBank Nucleotide ID	NP_001121143.1; NP_002301.1; XP_011512342.1; XP_011512344.1; XP_016864952.1;
Protein Name	Leukemia inhibitory factor receptor (LIF receptor) (LIF-R) (CD antigen CD118)
Gene Name	LIFR
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	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. Functional Description 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.
Sequence (Fasta)	MMDIYVCLKR PSWMVDNKRM RTASNFQWLL STFILLYLMN QVNSQKKGAP HDLKCVTNNL 60 QVWNCSWKAP SGTGRGTDYE VCIENRSRSC YQLEKTSIKI PALSHGDYEI TINSLHDFGS 120 STSKFTLNEQ NVSLIPDTPE ILNLSADFST STLYLKWNDR GSVFPHRSNV IWEIKVLRKE 180 SMELVKLVTH NTTLNGKDTL HHWSWASDMP LECAIHFVEI RCYIDNLHFS GLEEWSDWSP 240 VKNISWIPDS QTKVFPQDKV ILVGSDITFC CVSQEKVLSA LIGHTNCPLI HLDGENVAIK 300 IRNISVSASS GTNVVFTTED NIFGTVIFAG YPPDTPQQLN CETHDLKEII CSWNPGRVTA 360 LVGPRATSYT LVESFSGKYV RLKRAEAPTN ESYQLLFQML PNQEIYNFTL NAHNPLGRSQ 420 STILVNITEK VYPHTPTSFK VKDINSTAVK LSWHLPGNFA KINFLCEIEI KKSNSVQEQR 480 NVTIKGVENS SYLVALDKLN PYTLYTFRIR CSTETFWKWS KWSNKKQHLT TEASPSKGPD 540 TWREWSSDGK NLIIYWKPLP INEANGKILS YNVSCSSDEE TQSLSEIPDP QHKAEIRLDK 600 NDYIISVVAK NSVGSSPPSK IASMEIPNDD LKIEQVVGMG KGILLTWHYD PNMTCDYVIK 660 WCNSSRSEPC LMDWRKVPSN STETVIESDE FRPGIRYNFF LYGCRNQGYQ LLRSMIGYIE 720 ELAPIVAPNF TVEDTSADSI LVKWEDIPVE ELRGFLRGYL FYFGKGERDT SKMRVLESGR 780 SDIKVKNITD ISQKTLRIAD LQGKTSYHLV LRAYTDGGVG PEKSMYVVTK ENSVGLIIAI 840 LIPVAVAVIV GVVTSILCYR KREWIKETFY PDIPNPENCK ALQFQKSVCE GSSALKTLEM 900 NPCTPNNVEV LETRSAFPKI EDTEIISPVA ERPEDRSDAE PENHVVVSYC PPIIEEEIPN 960 PAADEAGGTA QVIYIDVQSM YQPQAKPEEE QENDPVGGAG YKPQMHLPIN STVEDIAAEE 1020 DLDKTAGYRP QANVNTWNLV SPDSPRSIDS NSEIVSFGSP CSINSRQFLI PPKDEDSPKS 1080 NGGGWSFTNF FQNKPND 1098 Fasta Sequence >P42702\|LIFR\|Homo sapiens (Human) MMDIYVCLKRPSWMVDNKRMRTASNFQWLLSTFILLYLMNQVNSQKKGAPHDLKCVTNNLQVWNCSWKAPSGTGRGTDYEVCIENRSRSCYQLEKTSIKIPALSHGDYEITINSLHDFGSSTSKFTLNEQNVSLIPDTPEILNLSADFSTSTLYLKWNDRGSVFPHRSNVIWEIKVLRKESMELVKLVTHNTTLNGKDTLHHWSWASDMPLECAIHFVEIRCYIDNLHFSGLEEWSDWSPVKNISWIPDSQTKVFPQDKVILVGSDITFCCVSQEKVLSALIGHTNCPLIHLDGENVAIKIRNISVSASSGTNVVFTTEDNIFGTVIFAGYPPDTPQQLNCETHDLKEIICSWNPGRVTALVGPRATSYTLVESFSGKYVRLKRAEAPTNESYQLLFQMLPNQEIYNFTLNAHNPLGRSQSTILVNITEKVYPHTPTSFKVKDINSTAVKLSWHLPGNFAKINFLCEIEIKKSNSVQEQRNVTIKGVENSSYLVALDKLNPYTLYTFRIRCSTETFWKWSKWSNKKQHLTTEASPSKGPDTWREWSSDGKNLIIYWKPLPINEANGKILSYNVSCSSDEETQSLSEIPDPQHKAEIRLDKNDYIISVVAKNSVGSSPPSKIASMEIPNDDLKIEQVVGMGKGILLTWHYDPNMTCDYVIKWCNSSRSEPCLMDWRKVPSNSTETVIESDEFRPGIRYNFFLYGCRNQGYQLLRSMIGYIEELAPIVAPNFTVEDTSADSILVKWEDIPVEELRGFLRGYLFYFGKGERDTSKMRVLESGRSDIKVKNITDISQKTLRIADLQGKTSYHLVLRAYTDGGVGPEKSMYVVTKENSVGLIIAILIPVAVAVIVGVVTSILCYRKREWIKETFYPDIPNPENCKALQFQKSVCEGSSALKTLEMNPCTPNNVEVLETRSAFPKIEDTEIISPVAERPEDRSDAEPENHVVVSYCPPIIEEEIPNPAADEAGGTAQVIYIDVQSMYQPQAKPEEEQENDPVGGAGYKPQMHLPINSTVEDIAAEEDLDKTAGYRPQANVNTWNLVSPDSPRSIDSNSEIVSFGSPCSINSRQFLIPPKDEDSPKSNGGGWSFTNFFQNKPND

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Serine Phosphorylation	Leukemia		P	S1044	7777512
1	[Reference]: Thus, our results identify the human LIFR as a substrate for MAPK and suggest a mechanism of heterologous receptor regulation of LIFR signaling occurring at Ser-1044.

※ Disease Cross-ref Annotation

Database	Annotation
Cancer Gene Census	salivary adenoma
CTD (Curated) (count: 3)	MESH:D011085 ; Polycystic Ovary Syndrome MESH:D011471 ; Prostatic Neoplasms MESH:C537502 ; Stuve-Wiedemann syndrome
DisGeNet (Curated) (count: 113) (view all)	C0003578; Apnea C0004096; Asthma C0009081; Congenital clubfoot C0011168; Deglutition Disorders C0013363; Dysautonomia C0015934; Fetal Growth Retardation C0016663; Pathological fracture C0019825; Hoarseness C0020458; Hyperhidrosis disorder C0020542; Pulmonary Hypertension C0020620; Hypohidrosis C0021296; Infant, Small for Gestational Age C0025990; Micrognathism C0025995; Micromelia C0026827; Muscle hypotonia C0027125; Myotonia C0029422; Osteochondrodysplasias C0029453; Osteopenia C0029456; Osteoporosis C0030554; Paresthesia C0032460; Polycystic Ovary Syndrome C0033578; Prostatic Neoplasms C0035229; Respiratory Insufficiency C0036341; Schizophrenia C0037932; Curvature of spine C0038990; Sweating C0041105; Trismus C0079924; Oligohydramnios C0152236; Talipes valgus C0155964; Atrophy of tongue papillae C0221354; Frontal bossing C0231679; Ulnar deviation of the fingers C0232466; Feeding difficulties C0239234; Low set ears C0240295; Mandibular hypoplasia C0265783; Congenital hypoplasia of lung C0277799; Intermittent fever C0349398; Paranoid delusion C0349588; Short stature C0409338; Flexion contracture - elbow C0409348; Flexion contracture of proximal interphalangeal joint C0423112; Short palpebral fissure C0423250; Corneal stromal opacities C0423757; Thin skin C0424731; Single transverse palmar crease C0426414; Small nose C0426818; Thin rib C0432240; Stuve-Wiedemann dysplasia C0454555; Hypernasal voice C0476273; Respiratory distress C0521525; Short neck C0558844; Knee reflex absent C0566620; Nasal voice C0576093; Knee joint valgus deformity C0700208; Acquired scoliosis C0700590; Increased sweating C0747078; Generalized osteopenia C0796176; STUVE-WIEDEMANN SYNDROME C0877165; Short phalanx of finger C1145628; Autonomic nervous system disorders C1301937; Talipes C1386048; Intrauterine retardation C1406835; Toe contractures C1504382; Pulmonary artery wall hypertrophy C1832127; Square face C1832130; Pursed lips C1832146; Rarefaction of the metaphyses C1833752; Varying degree of multiple fractures C1836868; Broad ischia C1837081; Tibial bowing C1837522; Decreased pain sensation C1840418; Thickened cortex of long bones C1848474; Limited jaw opening C1849034; Hypoplastic iliac body C1849039; Metaphyseal widening C1849667; Wide nasal base C1850135; Splayed metaphyses C1850259; Short tibia C1853242; Midface retrusion C1854114; Short nose C1856661; Cloudy cornea C1857130; Hypoplastic mandible condyle C1857139; Abnormal metaphyseal trabeculation C1858085; Malar flattening C1859461; Femoral bowing C2673410; Small midface C2674608; Feeding difficulties in infancy C2973725; Pulmonary arterial hypertension C3203102; Idiopathic pulmonary arterial hypertension C3550658; Maternal oligohydramnios C3552713; Talipes foot deformities C3554612; Camptodactyly of 5th fingers C3554617; Adducted thumb C3714497; Reactive airway disease C3805574; Increased fracture rate C3806283; Frequent fractures C4020855; Respiratory function loss C4020899; Autosomal recessive predisposition C4021800; Enamel abnormalities C4021801; Lacrimation abnormality C4024831; Blotching pigmentation of the skin C4025846; Abnormality of vision C4228933; Limited jaw mobility C4280262; Dystrophic tooth enamel C4280320; Hypotrophic midface C4280321; Decreased projection of midface C4280381; Smooth dorsum of tongue C4280382; Atrophy of lingual surface C4280383; Atrophy of dorsum of tongue C4280567; Abnormal skeletal development C4280615; Defective tooth enamel C4280651; Hypotrophic malar bone C4280672; Decrease in jaw opening
HGMD (count: 17) (view all)	CD040587; Stuve-Wiedemann syndrome; Small deletions CD040588; Stuve-Wiedemann syndrome; Small deletions CD040589; Stuve-Wiedemann syndrome; Small deletions CD064573; Stuve-Wiedemann syndrome; Small deletions CG044364; Stuve-Wiedemann syndrome; Gross deletions CI040635; Stuve-Wiedemann syndrome; Small insertions CI040634; Stuve-Wiedemann syndrome; Small insertions CI040636; Stuve-Wiedemann syndrome; Small insertions CI040632; Stuve-Wiedemann syndrome; Small insertions CI040633; Stuve-Wiedemann syndrome; Small insertions CM040445; Stuve-Wiedemann syndrome; Missense/nonsense CM040446; Stuve-Wiedemann syndrome; Missense/nonsense CM040447; Stuve-Wiedemann syndrome; Missense/nonsense CM064102; Stuve-Wiedemann syndrome; Missense/nonsense CM040448; Stuve-Wiedemann syndrome; Missense/nonsense CS040546; Stuve-Wiedemann syndrome; Splicing CS040545; Stuve-Wiedemann syndrome; Splicing
GWASdb (count: 5)	rs1005017; Multiple complex diseases; Null rs3729740; Colorectal cancer (drug response in metastatic colorectal cancer); colorectal cancer rs3729734; Prostate cancer; prostate cancer rs17427485; Multiple complex diseases; Null rs10512687; Heart Failure; congestive heart failure

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 26) (view all)	1041 VNTWNLVSPDSPRSI dbPAF 1044 WNLVSPDSPRSIDSN dbPAF 1047 VSPDSPRSIDSNSEI dbPAF 1050 DSPRSIDSNSEIVSF dbPAF 1052 PRSIDSNSEIVSFGS dbPAF 1059 SEIVSFGSPCSINSR dbPAF 1077 IPPKDEDSPKSNGGG dbPAF 369 VGPRATSYTLVESFS dbPAF 379 VESFSGKYVRLKRAE dbPAF 490 TIKGVENSSYLVALD dbPAF 491 IKGVENSSYLVALDK dbPAF 492 KGVENSSYLVALDKL dbPAF 530 SNKKQHLTTEASPSK dbPAF 531 NKKQHLTTEASPSKG dbPAF 534 QHLTTEASPSKGPDT dbPAF 735 PNFTVEDTSADSILV dbPAF 736 NFTVEDTSADSILVK dbPAF 739 VEDTSADSILVKWED dbPAF 759 LRGFLRGYLFYFGKG dbPAF 762 FLRGYLFYFGKGERD dbPAF 807 DLQGKTSYHLVLRAY dbPAF 833 YVVTKENSVGLIIAI dbPAF 887 KALQFQKSVCEGSSA dbPAF 904 TLEMNPCTPNNVEVL dbPAF 927 IEDTEIISPVAERPE dbPAF 974 GGTAQVIYIDVQSMY dbPAF
Ubiquitination (count: 17) (view all)	175 SNVIWEIKVLRKESM PLMD 18 PSWMVDNKRMRTASN PLMD 242 WSDWSPVKNISWIPD PLMD 300 DGENVAIKIRNISVS PLMD 378 LVESFSGKYVRLKRA PLMD 498 SYLVALDKLNPYTLY PLMD 593 EIPDPQHKAEIRLDK PLMD 600 KAEIRLDKNDYIISV PLMD 620 VGSSPPSKIASMEIP PLMD 804 RIADLQGKTSYHLVL PLMD 861 TSILCYRKREWIKET PLMD 866 YRKREWIKETFYPDI PLMD 880 IPNPENCKALQFQKS PLMD 886 CKALQFQKSVCEGSS PLMD 896 CEGSSALKTLEMNPC PLMD 919 ETRSAFPKIEDTEII PLMD 95 RSCYQLEKTSIKIPA PLMD

PTM

Modification Sites

Phosphorylation
(count: 26)
(view all)

1041      VNTWNLVSPDSPRSI     dbPAF
1044      WNLVSPDSPRSIDSN     dbPAF
1047      VSPDSPRSIDSNSEI     dbPAF
1050      DSPRSIDSNSEIVSF     dbPAF
1052      PRSIDSNSEIVSFGS     dbPAF
1059      SEIVSFGSPCSINSR     dbPAF

Ubiquitination
(count: 17)
(view all)

175       SNVIWEIKVLRKESM     PLMD
18        PSWMVDNKRMRTASN     PLMD
242       WSDWSPVKNISWIPD     PLMD
300       DGENVAIKIRNISVS     PLMD
378       LVESFSGKYVRLKRA     PLMD
498       SYLVALDKLNPYTLY     PLMD

※ Protein-Protein Interaction

Network

Interaction

Source

G3V0F8	P42702	HPRD
P13725	P42702	HPRD; DIP; MINT
P14859	P42702	HPRD
P15018	P42702	HPRD; DIP; MINT
P19174	P42702	HPRD
P26441	P42702	HPRD; DIP; MINT
P26992	P42702	HPRD
P28482	P42702	HPRD
P40189	P42702	HPRD
P42702	Q06124	HPRD
P42702	Q16619	HPRD
P42702	Q8NI17	HPRD

PTMD Annotation Information

※ Protein Information

Functional Description

Fasta Sequence

※ PTM-Disease Association

※ Disease Cross-ref Annotation

※ PTM Sites

※ Protein-Protein Interaction