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UniProtKB - P16871 (IL7RA_HUMAN)

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Protein

Interleukin-7 receptor subunit alpha

Gene

IL7R

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).

GO - Molecular functioni

  • antigen binding Source: ProtInc
  • cytokine receptor activity Source: UniProtKB
  • interleukin-7 receptor activity Source: ProtInc
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionReceptor

Enzyme and pathway databases

ReactomeiR-HSA-1266695 Interleukin-7 signaling
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
SignaLinkiP16871
SIGNORiP16871

Names & Taxonomyi

Protein namesi
Recommended name:
Interleukin-7 receptor subunit alpha
Short name:
IL-7 receptor subunit alpha
Short name:
IL-7R subunit alpha
Short name:
IL-7R-alpha
Short name:
IL-7RA
Alternative name(s):
CDw127
CD_antigen: CD127
Gene namesi
Name:IL7R
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000168685.14
HGNCiHGNC:6024 IL7R
MIMi146661 gene
neXtProtiNX_P16871

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini21 – 239ExtracellularSequence analysisAdd BLAST219
Transmembranei240 – 264HelicalSequence analysisAdd BLAST25
Topological domaini265 – 459CytoplasmicSequence analysisAdd BLAST195

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (T(-)B(+)NK(+) SCID)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.
See also OMIM:608971
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02128666T → I in T(-)B(+)NK(+) SCID. 4 PublicationsCorresponds to variant dbSNP:rs1494558Ensembl.1
Natural variantiVAR_034870132P → S in T(-)B(+)NK(+) SCID. 1 Publication1
Natural variantiVAR_021288138I → V in T(-)B(+)NK(+) SCID. 4 PublicationsCorresponds to variant dbSNP:rs1494555Ensembl.1
Multiple sclerosis 3 (MS3)
Disease susceptibility is associated with variations affecting the gene represented in this entry. A polymorphism at position 244 strongly influences susceptibility to multiple sclerosis. Overtransmission of the major 'C' allele coding for Thr-244 is detected in offspring affected with multiple sclerosis. In vitro analysis of transcripts from minigenes containing either 'C' allele (Thr-244) or 'T' allele (Ile-244) shows that the 'C' allele results in an approximately two-fold increase in the skipping of exon 6, leading to increased production of a soluble form of IL7R. Thus, the multiple sclerosis associated 'C' risk allele of IL7R would probably decrease membrane-bound expression of IL7R. As this risk allele is common in the general population, some additional triggers are probably required for the development and progression of MS.
Disease descriptionA multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease.
See also OMIM:612595

Keywords - Diseasei

Disease mutation, SCID

Organism-specific databases

DisGeNETi3575
MalaCardsiIL7R
MIMi608971 phenotype
612595 phenotype
Orphaneti39041 Omenn syndrome
169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
PharmGKBiPA29840

Chemistry databases

GuidetoPHARMACOLOGYi1698

Polymorphism and mutation databases

BioMutaiIL7R
DMDMi215274000

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Add BLAST20
ChainiPRO_000001090921 – 459Interleukin-7 receptor subunit alphaAdd BLAST439

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi42 ↔ 571 Publication
Glycosylationi49N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi65N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi74 ↔ 821 Publication
Disulfide bondi108 ↔ 1181 Publication
Glycosylationi151N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi182N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi232N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi233N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei282Phosphothreonine; by PKCSequence analysis1

Post-translational modificationi

N-glycosylated IL-7Ralpha binds IL7 300-fold more tightly than the unglycosylated form.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP16871
PaxDbiP16871
PeptideAtlasiP16871
PRIDEiP16871
ProteomicsDBi53396
53397 [P16871-2]
53398 [P16871-3]
53399 [P16871-4]

PTM databases

iPTMnetiP16871
PhosphoSitePlusiP16871

Expressioni

Gene expression databases

BgeeiENSG00000168685
CleanExiHS_IL7R
ExpressionAtlasiP16871 baseline and differential
GenevisibleiP16871 HS

Organism-specific databases

HPAiCAB010215

Interactioni

Subunit structurei

The IL7 receptor is a heterodimer of IL7R and IL2RG. The TSLP receptor is a heterodimer of CRLF2 and IL7R.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
IL7P132327EBI-15750828,EBI-80516

Protein-protein interaction databases

BioGridi109789, 120 interactors
DIPiDIP-3045N
ELMiP16871
IntActiP16871, 9 interactors
STRINGi9606.ENSP00000306157

Structurei

Secondary structure

1459
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi35 – 38Combined sources4
Beta strandi40 – 49Combined sources10
Beta strandi52 – 61Combined sources10
Beta strandi69 – 79Combined sources11
Beta strandi81 – 84Combined sources4
Beta strandi86 – 88Combined sources3
Beta strandi91 – 97Combined sources7
Beta strandi102 – 111Combined sources10
Beta strandi114 – 122Combined sources9
Helixi123 – 125Combined sources3
Beta strandi133 – 140Combined sources8
Turni141 – 144Combined sources4
Beta strandi145 – 151Combined sources7
Helixi153 – 156Combined sources4
Beta strandi158 – 160Combined sources3
Beta strandi163 – 173Combined sources11
Beta strandi179 – 191Combined sources13
Helixi192 – 194Combined sources3
Beta strandi200 – 209Combined sources10
Beta strandi211 – 213Combined sources3
Beta strandi224 – 227Combined sources4

3D structure databases

ProteinModelPortaliP16871
SMRiP16871
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP16871

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini131 – 231Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST101

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi217 – 221WSXWS motif5
Motifi272 – 280Box 1 motif9

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi184 – 189Ser/Thr-rich6

Domaini

The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
The box 1 motif is required for JAK interaction and/or activation.

Sequence similaritiesi

Belongs to the type I cytokine receptor family. Type 4 subfamily.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IGXR Eukaryota
ENOG410YWZG LUCA
HOVERGENiHBG055773
InParanoidiP16871
KOiK05072
OrthoDBiEOG091G0N4J
PhylomeDBiP16871
TreeFamiTF336573

Family and domain databases

CDDicd00063 FN3, 1 hit
Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR003531 Hempt_rcpt_S_F1_CS
IPR013783 Ig-like_fold
PfamiView protein in Pfam
PF00041 fn3, 1 hit
SUPFAMiSSF49265 SSF49265, 1 hit
PROSITEiView protein in PROSITE
PS50853 FN3, 1 hit
PS01355 HEMATOPO_REC_S_F1, 1 hit

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P16871-1) [UniParc]FASTAAdd to basket
Also known as: H20

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MTILGTTFGM VFSLLQVVSG ESGYAQNGDL EDAELDDYSF SCYSQLEVNG 
        60         70         80         90        100
SQHSLTCAFE DPDVNTTNLE FEICGALVEV KCLNFRKLQE IYFIETKKFL 
       110        120        130        140        150
LIGKSNICVK VGEKSLTCKK IDLTTIVKPE APFDLSVIYR EGANDFVVTF 
       160        170        180        190        200
NTSHLQKKYV KVLMHDVAYR QEKDENKWTH VNLSSTKLTL LQRKLQPAAM 
       210        220        230        240        250
YEIKVRSIPD HYFKGFWSEW SPSYYFRTPE INNSSGEMDP ILLTISILSF 
       260        270        280        290        300
FSVALLVILA CVLWKKRIKP IVWPSLPDHK KTLEHLCKKP RKNLNVSFNP 
       310        320        330        340        350
ESFLDCQIHR VDDIQARDEV EGFLQDTFPQ QLEESEKQRL GGDVQSPNCP 
       360        370        380        390        400
SEDVVITPES FGRDSSLTCL AGNVSACDAP ILSSSRSLDC RESGKNGPHV 
       410        420        430        440        450
YQDLLLSLGT TNSTLPPPFS LQSGILTLNP VAQGQPILTS LGSNQEEAYV 

TMSSFYQNQ
Length:459
Mass (Da):51,581
Last modified:November 25, 2008 - v2
Checksum:iEE556426C22A182B
GO
Isoform 3 (identifier: P16871-2) [UniParc]FASTAAdd to basket
Also known as: H1

The sequence of this isoform differs from the canonical sequence as follows:
     293-459: NLNVSFNPES...VTMSSFYQNQ → VSVFGA

Show »
Length:298
Mass (Da):34,020
Checksum:iB724534E0AFFC77B
GO
Isoform 4 (identifier: P16871-3) [UniParc]FASTAAdd to basket
Also known as: H6, Secreted

The sequence of this isoform differs from the canonical sequence as follows:
     237-459: EMDPILLTIS...VTMSSFYQNQ → LSLSYGPVSPIIRRLWNIFVRNQEK

Show »
Length:261
Mass (Da):29,938
Checksum:iC77F2DB55E9DB48D
GO
Isoform 2 (identifier: P16871-4) [UniParc]FASTAAdd to basket
Also known as: Secreted

The sequence of this isoform differs from the canonical sequence as follows:
     237-252: EMDPILLTISILSFFS → LSLSYGPVSPIIRQEL
     253-459: Missing.

Show »
Length:252
Mass (Da):28,724
Checksum:iD37499B0E8BE412A
GO

Sequence cautioni

The sequence AAH20717 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti39S → T in AAH67539 (PubMed:15489334).Curated1
Sequence conflicti52Q → R in AAH67538 (PubMed:15489334).Curated1
Sequence conflicti384S → P in AAH67537 (PubMed:15489334).Curated1
Sequence conflicti386R → G in AAH67539 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02128666T → I in T(-)B(+)NK(+) SCID. 4 PublicationsCorresponds to variant dbSNP:rs1494558Ensembl.1
Natural variantiVAR_021287113E → D1 PublicationCorresponds to variant dbSNP:rs11567735EnsemblClinVar.1
Natural variantiVAR_034870132P → S in T(-)B(+)NK(+) SCID. 1 Publication1
Natural variantiVAR_021288138I → V in T(-)B(+)NK(+) SCID. 4 PublicationsCorresponds to variant dbSNP:rs1494555Ensembl.1
Natural variantiVAR_021289244T → I3 PublicationsCorresponds to variant dbSNP:rs6897932EnsemblClinVar.1
Natural variantiVAR_021290356I → V4 PublicationsCorresponds to variant dbSNP:rs3194051EnsemblClinVar.1
Natural variantiVAR_047742414T → M. Corresponds to variant dbSNP:rs2229232EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_001713237 – 459EMDPI…FYQNQ → LSLSYGPVSPIIRRLWNIFV RNQEK in isoform 4. 1 PublicationAdd BLAST223
Alternative sequenceiVSP_012618237 – 252EMDPI…LSFFS → LSLSYGPVSPIIRQEL in isoform 2. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_012619253 – 459Missing in isoform 2. 1 PublicationAdd BLAST207
Alternative sequenceiVSP_001714293 – 459NLNVS…FYQNQ → VSVFGA in isoform 3. CuratedAdd BLAST167

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M29696 mRNA Translation: AAA59157.1
AF043129
, AF043123, AF043124, AF043125, AF043126, AF043127, AF043128 Genomic DNA Translation: AAC83204.1
AK301220 mRNA Translation: BAG62793.1
AK315251 mRNA Translation: BAG37673.1
AY449709 Genomic DNA Translation: AAR08908.1
BC020717 mRNA Translation: AAH20717.1 Sequence problems.
BC067537 mRNA Translation: AAH67537.1
BC067538 mRNA Translation: AAH67538.1
BC067539 mRNA Translation: AAH67539.1
BC067540 mRNA Translation: AAH67540.1
BC069999 mRNA Translation: AAH69999.1
CCDSiCCDS3911.1 [P16871-1]
PIRiA34791
B34791
C34791
RefSeqiNP_002176.2, NM_002185.3
UniGeneiHs.591742

Genome annotation databases

EnsembliENST00000303115; ENSP00000306157; ENSG00000168685
GeneIDi3575
KEGGihsa:3575
UCSCiuc003jjs.5 human [P16871-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiIL7RA_HUMAN
AccessioniPrimary (citable) accession number: P16871
Secondary accession number(s): B2RCS6
, B4DVT1, Q05CU8, Q6NSP4, Q6NWM0, Q6NWM1, Q6NWM2, Q6NWM3, Q6SV45, Q9UPC1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: November 25, 2008
Last modified: July 18, 2018
This is version 189 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

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