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P16871

- IL7RA_HUMAN

UniProt

P16871 - IL7RA_HUMAN

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
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    • History
      Entry version 156 (01 Oct 2014)
      Sequence version 2 (25 Nov 2008)
      Previous versions | rss
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    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

    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

    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

    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.
    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.

    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...)Sequence Analysis
    Glycosylationi232 – 2321N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi233 – 2331N-linked (GlcNAc...)Sequence Analysis
    Modified residuei282 – 2821Phosphothreonine; by PKCSequence Analysis

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP16871.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini21 – 239219ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini265 – 459195CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei240 – 26425HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini131 – 231101Fibronectin type-IIIPROSITE-ProRule annotationAdd
    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

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

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti39 – 391S → T in AAH67539. (PubMed:15489334)Curated
    Sequence conflicti52 – 521Q → R in AAH67538. (PubMed:15489334)Curated
    Sequence conflicti384 – 3841S → P in AAH67537. (PubMed:15489334)Curated
    Sequence conflicti386 – 3861R → G in AAH67539. (PubMed:15489334)Curated

    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. 1 PublicationVSP_001713Add
    BLAST
    Alternative sequencei237 – 25216EMDPI…LSFFS → LSLSYGPVSPIIRQEL in isoform 2. 1 PublicationVSP_012618Add
    BLAST
    Alternative sequencei253 – 459207Missing in isoform 2. 1 PublicationVSP_012619Add
    BLAST
    Alternative sequencei293 – 459167NLNVS…FYQNQ → VSVFGA in isoform 3. CuratedVSP_001714Add
    BLAST

    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

    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: October 1, 2014
    This is version 156 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