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Q99706

- KI2L4_HUMAN

UniProt

Q99706 - KI2L4_HUMAN

Protein

Killer cell immunoglobulin-like receptor 2DL4

Gene

KIR2DL4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 145 (01 Oct 2014)
      Sequence version 3 (08 Mar 2011)
      Previous versions | rss
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    Functioni

    Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis.

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. transmembrane signaling receptor activity Source: ProtInc

    GO - Biological processi

    1. cellular defense response Source: ProtInc
    2. regulation of immune response Source: Reactome
    3. signal transduction Source: ProtInc

    Keywords - Molecular functioni

    Receptor

    Enzyme and pathway databases

    ReactomeiREACT_11152. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Killer cell immunoglobulin-like receptor 2DL4
    Alternative name(s):
    CD158 antigen-like family member D
    G9P
    Killer cell inhibitory receptor 103AS
    Short name:
    KIR-103AS
    MHC class I NK cell receptor KIR103AS
    CD_antigen: CD158d
    Gene namesi
    Name:KIR2DL4
    Synonyms:CD158D, KIR103AS
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:6332. KIR2DL4.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. membrane Source: UniProtKB
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA30117.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2121By similarityAdd
    BLAST
    Chaini22 – 377356Killer cell immunoglobulin-like receptor 2DL4PRO_0000015081Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi51 ↔ 97By similarity
    Glycosylationi141 – 1411N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi146 ↔ 195By similarity
    Glycosylationi175 – 1751N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ99706.
    PRIDEiQ99706.

    PTM databases

    PhosphoSiteiQ99706.

    Expressioni

    Gene expression databases

    ArrayExpressiQ99706.
    BgeeiQ99706.
    GenevestigatoriQ99706.

    Interactioni

    Subunit structurei

    Interacts with ARRB2.1 Publication

    Protein-protein interaction databases

    BioGridi110006. 3 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99706.
    SMRiQ99706. Positions 30-218.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini22 – 242221ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini264 – 377114CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei243 – 26321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini44 – 10461Ig-like C2-type 1Add
    BLAST
    Domaini139 – 20264Ig-like C2-type 2Add
    BLAST

    Sequence similaritiesi

    Belongs to the immunoglobulin superfamily.Curated

    Keywords - Domaini

    Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG25862.
    HOVERGENiHBG074353.
    KOiK07981.
    OrthoDBiEOG7H792J.
    TreeFamiTF352669.

    Family and domain databases

    Gene3Di2.60.40.10. 2 hits.
    InterProiIPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    [Graphical view]
    SMARTiSM00409. IG. 1 hit.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

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

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q99706-1) [UniParc]FASTAAdd to Basket

    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

    MSMSPTVIIL ACLGFFLDQS VWAHVGGQDK PFCSAWPSAV VPQGGHVTLR    50
    CHYRRGFNIF TLYKKDGVPV PELYNRIFWN SFLISPVTPA HAGTYRCRGF 100
    HPHSPTEWSA PSNPLVIMVT GLYEKPSLTA RPGPTVRAGE NVTLSCSSQS 150
    SFDIYHLSRE GEAHELRLPA VPSINGTFQA DFPLGPATHG ETYRCFGSFH 200
    GSPYEWSDPS DPLPVSVTGN PSSSWPSPTE PSFKTGIARH LHAVIRYSVA 250
    IILFTILPFF LLHRWCSKKK DAAVMNQEPA GHRTVNREDS DEQDPQEVTY 300
    AQLDHCIFTQ RKITGPSQRS KRPSTDTSVC IELPNAEPRA LSPAHEHHSQ 350
    ALMGSSRETT ALSQTQLASS NVPAAGI 377
    Length:377
    Mass (Da):41,487
    Last modified:March 8, 2011 - v3
    Checksum:i888B3297332D6C59
    GO
    Isoform 2 (identifier: Q99706-2) [UniParc]FASTAAdd to Basket

    Also known as: AST

    The sequence of this isoform differs from the canonical sequence as follows:
         219-235: Missing.

    Show »
    Length:360
    Mass (Da):39,699
    Checksum:iA7E18C6F0DDBD526
    GO
    Isoform 3 (identifier: Q99706-3) [UniParc]FASTAAdd to Basket

    Also known as: AS

    The sequence of this isoform differs from the canonical sequence as follows:
         236-270: Missing.

    Show »
    Length:342
    Mass (Da):37,356
    Checksum:i963B74BC0E5C7B64
    GO
    Isoform 4 (identifier: Q99706-4) [UniParc]FASTAAdd to Basket

    Also known as: ASD1

    The sequence of this isoform differs from the canonical sequence as follows:
         219-235: Missing.
         236-270: Missing.

    Show »
    Length:325
    Mass (Da):35,568
    Checksum:iA07C525E18C55C79
    GO
    Isoform 5 (identifier: Q99706-5) [UniParc]FASTAAdd to Basket

    Also known as: ASD2

    The sequence of this isoform differs from the canonical sequence as follows:
         219-235: Missing.
         236-270: Missing.
         271-288: Missing.

    Show »
    Length:307
    Mass (Da):33,591
    Checksum:i360E7C2058E1788E
    GO
    Isoform 6 (identifier: Q99706-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         27-121: Missing.
         219-235: Missing.
         236-270: Missing.

    Show »
    Length:230
    Mass (Da):24,917
    Checksum:i0FCFE3EE13BACBB7
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti47 – 471V → A in ABW73961. (PubMed:18082267)Curated
    Sequence conflicti229 – 2291T → P in AAD24763. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti53 – 531Y → C.3 Publications
    Corresponds to variant rs618835 [ dbSNP | Ensembl ].
    VAR_010307
    Natural varianti87 – 871V → L.3 Publications
    Corresponds to variant rs1057767 [ dbSNP | Ensembl ].
    VAR_010308
    Natural varianti138 – 1381A → T.5 Publications
    Corresponds to variant rs1051454 [ dbSNP | Ensembl ].
    VAR_010309
    Natural varianti209 – 2091P → A.5 Publications
    Corresponds to variant rs1051456 [ dbSNP | Ensembl ].
    VAR_010310
    Natural varianti271 – 2733DAA → MLL in allele KIR2DL4*0501.
    VAR_064649
    Natural varianti271 – 2711D → N.4 Publications
    VAR_010311
    Natural varianti274 – 377104Missing in allele KIR2DL4*0501.
    VAR_065101Add
    BLAST
    Natural varianti371 – 3711N → H.4 Publications
    Corresponds to variant rs1051460 [ dbSNP | Ensembl ].
    VAR_010312

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei27 – 12195Missing in isoform 6. 1 PublicationVSP_002608Add
    BLAST
    Alternative sequencei219 – 23517Missing in isoform 2, isoform 4, isoform 5 and isoform 6. 3 PublicationsVSP_002609Add
    BLAST
    Alternative sequencei236 – 27035Missing in isoform 3, isoform 4, isoform 5 and isoform 6. 2 PublicationsVSP_002610Add
    BLAST
    Alternative sequencei271 – 28818Missing in isoform 5. 1 PublicationVSP_002611Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U71199 mRNA. Translation: AAB49756.1.
    AF034771 mRNA. Translation: AAB95164.1.
    AF034772 mRNA. Translation: AAB95165.1.
    AF034773 mRNA. Translation: AAB95166.1.
    U73394 mRNA. Translation: AAC51146.1.
    AF003123
    , AF003116, AF003117, AF003118, AF003119, AF003121, AF003122, AF003120 Genomic DNA. Translation: AAB61926.1.
    AF002979 mRNA. Translation: AAB71387.1.
    AF002980 mRNA. Translation: AAB71388.1.
    AF002981 mRNA. Translation: AAB71389.1.
    AF002982 mRNA. Translation: AAB71390.1.
    EU194342 mRNA. Translation: ABW73961.1.
    X97229 mRNA. Translation: CAA65868.1.
    X99479 mRNA. Translation: CAA67842.1.
    X99480 mRNA. Translation: CAA67843.1.
    X99481 mRNA. Translation: CAA67844.1.
    AF110035
    , AF110032, AF110033, AF110034 Genomic DNA. Translation: AAD24763.1.
    AC011501 Genomic DNA. No translation available.
    AL133414 Genomic DNA. Translation: CAC40708.1.
    CCDSiCCDS42619.1. [Q99706-3]
    RefSeqiNP_001074239.1. NM_001080770.1. [Q99706-3]
    NP_002246.5. NM_002255.5.
    UniGeneiHs.661219.
    Hs.743945.

    Genome annotation databases

    EnsembliENST00000345540; ENSP00000339634; ENSG00000189013. [Q99706-3]
    ENST00000357494; ENSP00000350088; ENSG00000189013. [Q99706-4]
    ENST00000396293; ENSP00000379588; ENSG00000189013. [Q99706-6]
    GeneIDi3805.
    KEGGihsa:3805.
    UCSCiuc002qhf.4. human. [Q99706-6]
    uc002qhg.4. human. [Q99706-3]
    uc002qhi.4. human. [Q99706-2]
    uc002qhj.4. human. [Q99706-4]
    uc010esd.4. human. [Q99706-1]

    Polymorphism databases

    DMDMi325511396.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U71199 mRNA. Translation: AAB49756.1 .
    AF034771 mRNA. Translation: AAB95164.1 .
    AF034772 mRNA. Translation: AAB95165.1 .
    AF034773 mRNA. Translation: AAB95166.1 .
    U73394 mRNA. Translation: AAC51146.1 .
    AF003123
    , AF003116 , AF003117 , AF003118 , AF003119 , AF003121 , AF003122 , AF003120 Genomic DNA. Translation: AAB61926.1 .
    AF002979 mRNA. Translation: AAB71387.1 .
    AF002980 mRNA. Translation: AAB71388.1 .
    AF002981 mRNA. Translation: AAB71389.1 .
    AF002982 mRNA. Translation: AAB71390.1 .
    EU194342 mRNA. Translation: ABW73961.1 .
    X97229 mRNA. Translation: CAA65868.1 .
    X99479 mRNA. Translation: CAA67842.1 .
    X99480 mRNA. Translation: CAA67843.1 .
    X99481 mRNA. Translation: CAA67844.1 .
    AF110035
    , AF110032 , AF110033 , AF110034 Genomic DNA. Translation: AAD24763.1 .
    AC011501 Genomic DNA. No translation available.
    AL133414 Genomic DNA. Translation: CAC40708.1 .
    CCDSi CCDS42619.1. [Q99706-3 ]
    RefSeqi NP_001074239.1. NM_001080770.1. [Q99706-3 ]
    NP_002246.5. NM_002255.5.
    UniGenei Hs.661219.
    Hs.743945.

    3D structure databases

    ProteinModelPortali Q99706.
    SMRi Q99706. Positions 30-218.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110006. 3 interactions.

    PTM databases

    PhosphoSitei Q99706.

    Polymorphism databases

    DMDMi 325511396.

    Proteomic databases

    PaxDbi Q99706.
    PRIDEi Q99706.

    Protocols and materials databases

    DNASUi 3805.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000345540 ; ENSP00000339634 ; ENSG00000189013 . [Q99706-3 ]
    ENST00000357494 ; ENSP00000350088 ; ENSG00000189013 . [Q99706-4 ]
    ENST00000396293 ; ENSP00000379588 ; ENSG00000189013 . [Q99706-6 ]
    GeneIDi 3805.
    KEGGi hsa:3805.
    UCSCi uc002qhf.4. human. [Q99706-6 ]
    uc002qhg.4. human. [Q99706-3 ]
    uc002qhi.4. human. [Q99706-2 ]
    uc002qhj.4. human. [Q99706-4 ]
    uc010esd.4. human. [Q99706-1 ]

    Organism-specific databases

    CTDi 3805.
    GeneCardsi GC19P055272.
    HGNCi HGNC:6332. KIR2DL4.
    MIMi 604945. gene.
    neXtProti NX_Q99706.
    PharmGKBi PA30117.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG25862.
    HOVERGENi HBG074353.
    KOi K07981.
    OrthoDBi EOG7H792J.
    TreeFami TF352669.

    Enzyme and pathway databases

    Reactomei REACT_11152. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.

    Miscellaneous databases

    GeneWikii KIR2DL4.
    GenomeRNAii 3805.
    NextBioi 14949.
    PROi Q99706.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99706.
    Bgeei Q99706.
    Genevestigatori Q99706.

    Family and domain databases

    Gene3Di 2.60.40.10. 2 hits.
    InterProi IPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    [Graphical view ]
    SMARTi SM00409. IG. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "NK cell receptor gene of the KIR family with two IG domains but highest homology to KIR receptors with three IG domains."
      Selvakumar A., Steffens U., Dupont B.
      Tissue Antigens 48:285-294(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS LEU-87; THR-138; ALA-209 AND HIS-371.
    2. "Functionally and structurally distinct NK cell receptor repertoires in the peripheral blood of two human donors."
      Valiante N.M., Uhrberg M., Shilling H.G., Lienert-Weidenbach K., Arnett K.L., D'Andrea A., Phillips J.H., Lanier L.L., Parham P.
      Immunity 7:739-751(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS CYS-53; THR-138; ALA-209; ASN-271 AND HIS-371.
    3. "Polymorphism and domain variability of human killer cell inhibitory receptors."
      Selvakumar A., Steffens U., Dupont B.
      Immunol. Rev. 155:183-196(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS LEU-87; THR-138; ALA-209 AND HIS-371.
    4. "Genomic organization and allelic polymorphism of the human killer cell inhibitory receptor gene KIR103."
      Selvakumar A., Steffens U., Palanisamy N., Chaganti R.S.K., Dupont B.
      Tissue Antigens 49:564-573(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 3; 4 AND 5), VARIANTS LEU-87; THR-138; ALA-209; ASN-271 AND HIS-371.
    5. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE KIR2DL4*0501), VARIANT CYS-53.
    6. Biassoni R.
      Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 6), VARIANTS THR-138; ALA-209 AND ASN-271.
      Tissue: Lymphoid tissue.
    7. "Exon deletion contributes to structural diversity of 2DL4 killer inhibitory receptors."
      Chan H.W., Salter R.D.
      Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CYS-53 AND ASN-271.
    8. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "An essential function for beta-arrestin 2 in the inhibitory signaling of natural killer cells."
      Yu M.-C., Su L.-L., Zou L., Liu Y., Wu N., Kong L., Zhuang Z.-H., Sun L., Liu H.P., Hu J.-H., Li D., Strominger J.L., Zang J.-W., Pei G., Ge B.-X.
      Nat. Immunol. 9:898-907(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH ARRB2.

    Entry informationi

    Entry nameiKI2L4_HUMAN
    AccessioniPrimary (citable) accession number: Q99706
    Secondary accession number(s): A8W795
    , O14621, O14622, O14623, O14624, O43534, P78400, P78401, Q8N738, Q99559, Q99560, Q99561, Q99562, Q9UQJ7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: March 8, 2011
    Last modified: October 1, 2014
    This is version 145 of the entry and version 3 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

    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 19
      Human chromosome 19: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3