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Q14954

- KI2S1_HUMAN

UniProt

Q14954 - KI2S1_HUMAN

Protein

Killer cell immunoglobulin-like receptor 2DS1

Gene

KIR2DS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    Functioni

    Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells.

    GO - Molecular functioni

    1. transmembrane signaling receptor activity Source: UniProtKB

    GO - Biological processi

    1. immune response Source: UniProtKB
    2. innate immune response Source: Reactome
    3. regulation of immune response Source: Reactome
    4. signal transduction Source: GOC

    Keywords - Molecular functioni

    Receptor

    Enzyme and pathway databases

    ReactomeiREACT_11152. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.
    REACT_147694. DAP12 interactions.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Killer cell immunoglobulin-like receptor 2DS1
    Alternative name(s):
    CD158 antigen-like family member H
    MHC class I NK cell receptor Eb6 ActI
    CD_antigen: CD158h
    Gene namesi
    Name:KIR2DS1
    Synonyms:CD158H
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Unplaced

    Organism-specific databases

    HGNCiHGNC:6333. KIR2DS1.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA30118.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2121By similarityAdd
    BLAST
    Chaini22 – 304283Killer cell immunoglobulin-like receptor 2DS1PRO_0000015082Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi49 ↔ 100By similarity
    Glycosylationi67 – 671N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi84 – 841N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi144 – 1441N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi149 ↔ 198By similarity
    Glycosylationi178 – 1781N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PRIDEiQ14954.

    Expressioni

    Gene expression databases

    GenevestigatoriQ14954.

    Organism-specific databases

    HPAiHPA049255.

    Interactioni

    Protein-protein interaction databases

    BioGridi110007. 1 interaction.
    IntActiQ14954. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ14954.
    SMRiQ14954. Positions 27-221.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini22 – 245224ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini265 – 30440CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei246 – 26419HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini42 – 10766Ig-like C2-type 1Add
    BLAST
    Domaini142 – 20564Ig-like C2-type 2Add
    BLAST

    Sequence similaritiesi

    Belongs to the immunoglobulin superfamily.Curated

    Keywords - Domaini

    Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    HOVERGENiHBG074353.
    KOiK07982.

    Family and domain databases

    Gene3Di2.60.40.10. 2 hits.
    InterProiIPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    IPR013151. Immunoglobulin.
    [Graphical view]
    PfamiPF00047. ig. 2 hits.
    [Graphical view]
    SMARTiSM00409. IG. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q14954-1 [UniParc]FASTAAdd to Basket

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    MSLTVVSMAC VGFFLLQGAW PHEGVHRKPS LLAHPGRLVK SEETVILQCW    50
    SDVMFEHFLL HREGMFNDTL RLIGEHHDGV SKANFSISRM RQDLAGTYRC 100
    YGSVTHSPYQ LSAPSDPLDI VIIGLYEKPS LSAQPGPTVL AGENVTLSCS 150
    SRSSYDMYHL SREGEAHERR LPAGTKVNGT FQANFPLGPA THGGTYRCFG 200
    SFRDSPYEWS KSSDPLLVSV TGNPSNSWPS PTEPSSETGN PRHLHVLIGT 250
    SVVKIPFTIL LFFLLHRWCS DKKNAAVMDQ EPAGNRTVNS EDSDEQDHQE 300
    VSYA 304
    Length:304
    Mass (Da):33,646
    Last modified:November 1, 1996 - v1
    Checksum:i4193A5421510AE06
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti91 – 911R → K.2 Publications
    Corresponds to variant rs687485 [ dbSNP | Ensembl ].
    VAR_010318
    Natural varianti111 – 1111L → V.
    Corresponds to variant rs687885 [ dbSNP | Ensembl ].
    VAR_059419

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X89892 mRNA. Translation: CAA61982.1.
    AF022046 mRNA. Translation: AAB95319.1.
    AL133414 Genomic DNA. Translation: CAC40716.1.
    RefSeqiNP_055327.1. NM_014512.1.
    UniGeneiHs.744319.

    Genome annotation databases

    GeneIDi3806.
    KEGGihsa:3806.
    UCSCiuc002qum.3. human.

    Polymorphism databases

    DMDMi13124324.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X89892 mRNA. Translation: CAA61982.1 .
    AF022046 mRNA. Translation: AAB95319.1 .
    AL133414 Genomic DNA. Translation: CAC40716.1 .
    RefSeqi NP_055327.1. NM_014512.1.
    UniGenei Hs.744319.

    3D structure databases

    ProteinModelPortali Q14954.
    SMRi Q14954. Positions 27-221.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110007. 1 interaction.
    IntActi Q14954. 1 interaction.

    Polymorphism databases

    DMDMi 13124324.

    Proteomic databases

    PRIDEi Q14954.

    Protocols and materials databases

    DNASUi 3806.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 3806.
    KEGGi hsa:3806.
    UCSCi uc002qum.3. human.

    Organism-specific databases

    CTDi 3806.
    GeneCardsi GC19P9I0101.
    HGNCi HGNC:6333. KIR2DS1.
    HPAi HPA049255.
    MIMi 604952. gene.
    neXtProti NX_Q14954.
    PharmGKBi PA30118.
    GenAtlasi Search...

    Phylogenomic databases

    HOVERGENi HBG074353.
    KOi K07982.

    Enzyme and pathway databases

    Reactomei REACT_11152. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.
    REACT_147694. DAP12 interactions.

    Miscellaneous databases

    GenomeRNAii 3806.
    NextBioi 14957.
    PROi Q14954.
    SOURCEi Search...

    Gene expression databases

    Genevestigatori Q14954.

    Family and domain databases

    Gene3Di 2.60.40.10. 2 hits.
    InterProi IPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    IPR013151. Immunoglobulin.
    [Graphical view ]
    Pfami PF00047. ig. 2 hits.
    [Graphical view ]
    SMARTi SM00409. IG. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The human leukocyte antigen (HLA)-C-specific 'activatory' or 'inhibitory' natural killer cell receptors display highly homologous extracellular domains but differ in their transmembrane and intracytoplasmic portions."
      Biassoni R., Cantoni C., Falco M., Verdiani S., Bottino C., Vitale M., Conte R., Poggi A., Moretta A., Moretta L.
      J. Exp. Med. 183:645-650(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Lymphoid tissue.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT LYS-91.
    3. "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], VARIANT LYS-91.

    Entry informationi

    Entry nameiKI2S1_HUMAN
    AccessioniPrimary (citable) accession number: Q14954
    Secondary accession number(s): O43471
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 127 of the entry and version 1 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