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P16871

- IL7RA_HUMAN

UniProt

P16871 - IL7RA_HUMAN

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Protein

Interleukin-7 receptor subunit alpha

Gene
IL7R
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. antigen binding Source: ProtInc
  2. interleukin-7 receptor activity Source: ProtInc
  3. protein binding Source: IntAct

GO - Biological processi

  1. B cell proliferation Source: Ensembl
  2. cell growth Source: Ensembl
  3. cell morphogenesis Source: Ensembl
  4. cell surface receptor signaling pathway Source: ProtInc
  5. homeostasis of number of cells Source: Ensembl
  6. immune response Source: ProtInc
  7. immunoglobulin production Source: Ensembl
  8. interleukin-7-mediated signaling pathway Source: GOC
  9. lymph node development Source: Ensembl
  10. negative regulation of T cell mediated cytotoxicity Source: Ensembl
  11. positive regulation of gene expression Source: Ensembl
  12. positive regulation of T cell differentiation in thymus Source: Ensembl
  13. regulation of cell size Source: Ensembl
  14. regulation of DNA recombination Source: ProtInc
  15. signal transduction Source: ProtInc
  16. T cell differentiation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Enzyme and pathway databases

ReactomeiREACT_115529. Interleukin-7 signaling.
SignaLinkiP16871.

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
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:6024. IL7R.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini21 – 239219Extracellular Reviewed predictionAdd
BLAST
Transmembranei240 – 26425Helical; Reviewed predictionAdd
BLAST
Topological domaini265 – 459195Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. external side of plasma membrane Source: Ensembl
  2. extracellular region Source: UniProtKB-SubCell
  3. integral component of membrane Source: UniProtKB-KW
  4. plasma membrane Source: Reactome
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) [MIM:608971]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
Multiple sclerosis 3 (MS3) [MIM:612595]: A 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.
Note: 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.1 Publication

Keywords - Diseasei

Disease mutation, SCID

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020Add
BLAST
Chaini21 – 459439Interleukin-7 receptor subunit alphaPRO_0000010909Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi42 ↔ 571 Publication
Glycosylationi49 – 491N-linked (GlcNAc...)1 Publication
Glycosylationi65 – 651N-linked (GlcNAc...)1 Publication
Disulfide bondi74 ↔ 821 Publication
Disulfide bondi108 ↔ 1181 Publication
Glycosylationi151 – 1511N-linked (GlcNAc...)1 Publication
Glycosylationi182 – 1821N-linked (GlcNAc...) Reviewed prediction
Glycosylationi232 – 2321N-linked (GlcNAc...) Reviewed prediction
Glycosylationi233 – 2331N-linked (GlcNAc...) Reviewed prediction
Modified residuei282 – 2821Phosphothreonine; by PKC Reviewed prediction

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

PaxDbiP16871.
PRIDEiP16871.

PTM databases

PhosphoSiteiP16871.

Expressioni

Gene expression databases

ArrayExpressiP16871.
BgeeiP16871.
CleanExiHS_IL7R.
GenevestigatoriP16871.

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. 96 interactions.
DIPiDIP-3045N.
IntActiP16871. 2 interactions.

Structurei

Secondary structure

1
459
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi35 – 384
Beta strandi40 – 4910
Beta strandi52 – 6110
Beta strandi69 – 7911
Beta strandi81 – 844
Beta strandi86 – 883
Beta strandi91 – 977
Beta strandi102 – 11110
Beta strandi114 – 1229
Helixi123 – 1253
Beta strandi133 – 1408
Turni141 – 1444
Beta strandi145 – 1517
Helixi153 – 1564
Beta strandi158 – 1603
Beta strandi163 – 17311
Beta strandi179 – 19113
Helixi192 – 1943
Beta strandi200 – 20910
Beta strandi211 – 2133
Beta strandi224 – 2274

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3DI2X-ray2.70B/D21-239[»]
3DI3X-ray2.90B21-239[»]
3UP1X-ray2.15A/B21-239[»]
ProteinModelPortaliP16871.
SMRiP16871. Positions 32-232.

Miscellaneous databases

EvolutionaryTraceiP16871.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini131 – 231101Fibronectin type-IIIAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi217 – 2215WSXWS motif
Motifi272 – 2809Box 1 motif

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi184 – 1896Ser/Thr-rich

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

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG39823.
HOVERGENiHBG055773.
InParanoidiP16871.
KOiK05072.
PhylomeDBiP16871.
TreeFamiTF336573.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR003961. Fibronectin_type3.
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. Align

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

MTILGTTFGM VFSLLQVVSG ESGYAQNGDL EDAELDDYSF SCYSQLEVNG    50
SQHSLTCAFE DPDVNTTNLE FEICGALVEV KCLNFRKLQE IYFIETKKFL 100
LIGKSNICVK VGEKSLTCKK IDLTTIVKPE APFDLSVIYR EGANDFVVTF 150
NTSHLQKKYV KVLMHDVAYR QEKDENKWTH VNLSSTKLTL LQRKLQPAAM 200
YEIKVRSIPD HYFKGFWSEW SPSYYFRTPE INNSSGEMDP ILLTISILSF 250
FSVALLVILA CVLWKKRIKP IVWPSLPDHK KTLEHLCKKP RKNLNVSFNP 300
ESFLDCQIHR VDDIQARDEV EGFLQDTFPQ QLEESEKQRL GGDVQSPNCP 350
SEDVVITPES FGRDSSLTCL AGNVSACDAP ILSSSRSLDC RESGKNGPHV 400
YQDLLLSLGT TNSTLPPPFS LQSGILTLNP VAQGQPILTS LGSNQEEAYV 450
TMSSFYQNQ 459
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 AAH20717.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti66 – 661T → I in T(-)/B(+)/NK(+) SCID. 4 Publications
Corresponds to variant rs1494558 [ dbSNP | Ensembl ].
VAR_021286
Natural varianti113 – 1131E → D.1 Publication
Corresponds to variant rs11567735 [ dbSNP | Ensembl ].
VAR_021287
Natural varianti132 – 1321P → S in T(-)/B(+)/NK(+) SCID. 1 Publication
VAR_034870
Natural varianti138 – 1381I → V in T(-)/B(+)/NK(+) SCID. 4 Publications
Corresponds to variant rs1494555 [ dbSNP | Ensembl ].
VAR_021288
Natural varianti244 – 2441T → I.3 Publications
Corresponds to variant rs6897932 [ dbSNP | Ensembl ].
VAR_021289
Natural varianti356 – 3561I → V.4 Publications
Corresponds to variant rs3194051 [ dbSNP | Ensembl ].
VAR_021290
Natural varianti414 – 4141T → M.
Corresponds to variant rs2229232 [ dbSNP | Ensembl ].
VAR_047742

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei237 – 459223EMDPI…FYQNQ → LSLSYGPVSPIIRRLWNIFV RNQEK in isoform 4. VSP_001713Add
BLAST
Alternative sequencei237 – 25216EMDPI…LSFFS → LSLSYGPVSPIIRQEL in isoform 2. VSP_012618Add
BLAST
Alternative sequencei253 – 459207Missing in isoform 2. VSP_012619Add
BLAST
Alternative sequencei293 – 459167NLNVS…FYQNQ → VSVFGA in isoform 3. VSP_001714Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti39 – 391S → T in AAH67539. 1 Publication
Sequence conflicti52 – 521Q → R in AAH67538. 1 Publication
Sequence conflicti384 – 3841S → P in AAH67537. 1 Publication
Sequence conflicti386 – 3861R → G in AAH67539. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.4. human. [P16871-1]

Polymorphism databases

DMDMi215274000.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

IL7Rbase

IL7R mutation db

SeattleSNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS3911.1. [P16871-1 ]
PIRi A34791.
B34791.
C34791.
RefSeqi NP_002176.2. NM_002185.3.
UniGenei Hs.591742.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3DI2 X-ray 2.70 B/D 21-239 [» ]
3DI3 X-ray 2.90 B 21-239 [» ]
3UP1 X-ray 2.15 A/B 21-239 [» ]
ProteinModelPortali P16871.
SMRi P16871. Positions 32-232.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109789. 96 interactions.
DIPi DIP-3045N.
IntActi P16871. 2 interactions.

PTM databases

PhosphoSitei P16871.

Polymorphism databases

DMDMi 215274000.

Proteomic databases

PaxDbi P16871.
PRIDEi P16871.

Protocols and materials databases

DNASUi 3575.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000303115 ; ENSP00000306157 ; ENSG00000168685 .
GeneIDi 3575.
KEGGi hsa:3575.
UCSCi uc003jjs.4. human. [P16871-1 ]

Organism-specific databases

CTDi 3575.
GeneCardsi GC05P035892.
H-InvDB HIX0024815.
HGNCi HGNC:6024. IL7R.
HPAi CAB010215.
MIMi 146661. gene.
608971. phenotype.
612595. phenotype.
neXtProti NX_P16871.
Orphaneti 39041. Omenn syndrome.
169154. T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency.
PharmGKBi PA29840.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG39823.
HOVERGENi HBG055773.
InParanoidi P16871.
KOi K05072.
PhylomeDBi P16871.
TreeFami TF336573.

Enzyme and pathway databases

Reactomei REACT_115529. Interleukin-7 signaling.
SignaLinki P16871.

Miscellaneous databases

EvolutionaryTracei P16871.
GeneWikii Interleukin-7_receptor-%CE%B1.
GenomeRNAii 3575.
NextBioi 13972.
PROi P16871.
SOURCEi Search...

Gene expression databases

ArrayExpressi P16871.
Bgeei P16871.
CleanExi HS_IL7R.
Genevestigatori P16871.

Family and domain databases

Gene3Di 2.60.40.10. 1 hit.
InterProi IPR003961. Fibronectin_type3.
IPR003531. Hempt_rcpt_S_F1_CS.
IPR013783. Ig-like_fold.
[Graphical view ]
Pfami PF00041. fn3. 1 hit.
[Graphical view ]
SUPFAMi SSF49265. SSF49265. 1 hit.
PROSITEi PS50853. FN3. 1 hit.
PS01355. HEMATOPO_REC_S_F1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of the human and murine interleukin-7 receptors: demonstration of a soluble form and homology to a new receptor superfamily."
    Goodwin R.G., Friend D., Ziegler S.F., Jerzy R., Falk B.A., Gimpel S., Cosman D., Dower S.K., March C.J., Namen A.E., Park L.S.
    Cell 60:941-951(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, VARIANT VAL-356.
    Tissue: B-cell.
  2. "Organization of the murine and human interleukin-7 receptor genes: two mRNAs generated by differential splicing and presence of a type I-interferon-inducible promoter."
    Pleiman C.M., Gimpel S.D., Park L.S., Harada H., Taniguchi T., Ziegler S.F.
    Mol. Cell. Biol. 11:3052-3059(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT VAL-356.
  3. "Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency."
    Puel A., Ziegler S.F., Buckley R.H., Leonard W.J.
    Nat. Genet. 20:394-397(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANTS T(-)/B(+)/NK(+) SCID ILE-66 AND VAL-138, VARIANT ILE-244.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4), VARIANT VAL-356.
    Tissue: Spleen.
  5. SeattleSNPs variation discovery resource
    Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANTS T(-)/B(+)/NK(+) SCID ILE-66 AND VAL-138, VARIANTS ASP-113 AND ILE-244.
  6. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS T(-)/B(+)/NK(+) SCID ILE-66 AND VAL-138.
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS T(-)/B(+)/NK(+) SCID ILE-66 AND VAL-138, VARIANT VAL-356.
    Tissue: Testis.
  8. "Structural and biophysical studies of the human IL-7/IL-7Ralpha complex."
    McElroy C.A., Dohm J.A., Walsh S.T.
    Structure 17:54-65(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 21-239 IN COMPLEX WITH IL7, SUBUNIT, GLYCOSYLATION AT ASN-49; ASN-65 AND ASN-151, DISULFIDE BONDS.
  9. "A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency."
    Roifman C.M., Zhang J., Chitayat D., Sharfe N.
    Blood 96:2803-2807(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT T(-)/B(+)/NK(+) SCID SER-132.
  10. Cited for: VARIANT ILE-244, ASSOCIATION WITH MS3.

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: September 3, 2014
This is version 155 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

External Data

Dasty 3

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