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Protein

Interleukin-7 receptor subunit alpha

Gene

IL7R

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • interleukin-7 receptor activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Receptor

Enzyme and pathway databases

BioCyciZFISH:ENSG00000168685-MONOMER.
ReactomeiR-HSA-1266695. Interleukin-7 signaling.
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:6024. IL7R.

Subcellular locationi

Topology

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

GO - Cellular componenti

Complete GO annotation...

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)
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 rs1494558dbSNPEnsembl.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 rs1494555dbSNPEnsembl.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.

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...)1 Publication1
Glycosylationi65N-linked (GlcNAc...)1 Publication1
Disulfide bondi74 ↔ 821 Publication
Disulfide bondi108 ↔ 1181 Publication
Glycosylationi151N-linked (GlcNAc...)1 Publication1
Glycosylationi182N-linked (GlcNAc...)Sequence analysis1
Glycosylationi232N-linked (GlcNAc...)Sequence analysis1
Glycosylationi233N-linked (GlcNAc...)Sequence 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.

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
IL7P132323EBI-80490,EBI-80516

Protein-protein interaction databases

BioGridi109789. 95 interactors.
DIPiDIP-3045N.
IntActiP16871. 3 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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3DI2X-ray2.70B/D21-239[»]
3DI3X-ray2.90B21-239[»]
3UP1X-ray2.15A/B21-239[»]
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

Contains 1 fibronectin type-III domain.PROSITE-ProRule annotation

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.
InterProiIPR003961. FN3_dom.
IPR003531. Hempt_rcpt_S_F1_CS.
IPR013783. Ig-like_fold.
[Graphical view]
PfamiPF00041. fn3. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 1 hit.
PROSITEiPS50853. FN3. 1 hit.
PS01355. HEMATOPO_REC_S_F1. 1 hit.
[Graphical view]

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 rs1494558dbSNPEnsembl.1
Natural variantiVAR_021287113E → D.1 PublicationCorresponds to variant rs11567735dbSNPEnsembl.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 rs1494555dbSNPEnsembl.1
Natural variantiVAR_021289244T → I.3 PublicationsCorresponds to variant rs6897932dbSNPEnsembl.1
Natural variantiVAR_021290356I → V.4 PublicationsCorresponds to variant rs3194051dbSNPEnsembl.1
Natural variantiVAR_047742414T → M.Corresponds to variant rs2229232dbSNPEnsembl.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

Cross-referencesi

Web resourcesi

IL7Rbase

IL7R mutation db

SeattleSNPs

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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3DI2X-ray2.70B/D21-239[»]
3DI3X-ray2.90B21-239[»]
3UP1X-ray2.15A/B21-239[»]
ProteinModelPortaliP16871.
SMRiP16871.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109789. 95 interactors.
DIPiDIP-3045N.
IntActiP16871. 3 interactors.
STRINGi9606.ENSP00000306157.

PTM databases

iPTMnetiP16871.
PhosphoSitePlusiP16871.

Polymorphism and mutation databases

BioMutaiIL7R.
DMDMi215274000.

Proteomic databases

MaxQBiP16871.
PaxDbiP16871.
PeptideAtlasiP16871.
PRIDEiP16871.

Protocols and materials databases

DNASUi3575.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi3575.
DisGeNETi3575.
GeneCardsiIL7R.
H-InvDBHIX0024815.
HGNCiHGNC:6024. IL7R.
HPAiCAB010215.
MalaCardsiIL7R.
MIMi146661. gene.
608971. phenotype.
612595. phenotype.
neXtProtiNX_P16871.
Orphaneti39041. Omenn syndrome.
169154. T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency.
PharmGKBiPA29840.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGXR. Eukaryota.
ENOG410YWZG. LUCA.
HOVERGENiHBG055773.
InParanoidiP16871.
KOiK05072.
OrthoDBiEOG091G0N4J.
PhylomeDBiP16871.
TreeFamiTF336573.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000168685-MONOMER.
ReactomeiR-HSA-1266695. Interleukin-7 signaling.
SignaLinkiP16871.
SIGNORiP16871.

Miscellaneous databases

EvolutionaryTraceiP16871.
GeneWikiiInterleukin-7_receptor-%CE%B1.
GenomeRNAii3575.
PROiP16871.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168685.
CleanExiHS_IL7R.
ExpressionAtlasiP16871. baseline and differential.
GenevisibleiP16871. HS.

Family and domain databases

CDDicd00063. FN3. 1 hit.
Gene3Di2.60.40.10. 1 hit.
InterProiIPR003961. FN3_dom.
IPR003531. Hempt_rcpt_S_F1_CS.
IPR013783. Ig-like_fold.
[Graphical view]
PfamiPF00041. fn3. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 1 hit.
PROSITEiPS50853. FN3. 1 hit.
PS01355. HEMATOPO_REC_S_F1. 1 hit.
[Graphical view]
ProtoNetiSearch...

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 historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: November 25, 2008
Last modified: November 30, 2016
This is version 176 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.