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KI2S1_HUMAN
ID   KI2S1_HUMAN             Reviewed;         304 AA.
AC   Q14954; K7QUS8; O43471;
DT   21-FEB-2001, integrated into UniProtKB/Swiss-Prot.
DT   28-MAR-2018, sequence version 2.
DT   25-MAY-2022, entry version 174.
DE   RecName: Full=Killer cell immunoglobulin-like receptor 2DS1 {ECO:0000305};
DE   AltName: Full=CD158 antigen-like family member H;
DE   AltName: Full=MHC class I NK cell receptor Eb6 ActI;
DE   AltName: CD_antigen=CD158h;
DE   Flags: Precursor;
GN   Name=KIR2DS1 {ECO:0000312|HGNC:HGNC:6333}; Synonyms=CD158H;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT ARG-91.
RC   TISSUE=Lymphoid tissue;
RX   PubMed=8627176; DOI=10.1084/jem.183.2.645;
RA   Biassoni R., Cantoni C., Falco M., Verdiani S., Bottino C., Vitale M.,
RA   Conte R., Poggi A., Moretta A., Moretta L.;
RT   "The human leukocyte antigen (HLA)-C-specific 'activatory' or 'inhibitory'
RT   natural killer cell receptors display highly homologous extracellular
RT   domains but differ in their transmembrane and intracytoplasmic portions.";
RL   J. Exp. Med. 183:645-650(1996).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RX   PubMed=9430221; DOI=10.1016/s1074-7613(00)80394-5;
RA   Uhrberg M., Valiante N.M., Shum B.P., Shilling H.G., Lienert-Weidenbach K.,
RA   Corliss B., Tyan D., Lanier L.L., Parham P.;
RT   "Human diversity in killer cell inhibitory receptor genes.";
RL   Immunity 7:753-763(1997).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX   PubMed=23394822; DOI=10.1186/1471-2164-14-89;
RA   Pyo C.W., Wang R., Vu Q., Cereb N., Yang S.Y., Duh F.M., Wolinsky S.,
RA   Martin M.P., Carrington M., Geraghty D.E.;
RT   "Recombinant structures expand and contract inter and intragenic
RT   diversification at the KIR locus.";
RL   BMC Genomics 14:89-89(2013).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15057824; DOI=10.1038/nature02399;
RA   Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA   Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA   Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA   Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA   Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA   Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA   Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA   Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA   Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA   McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA   Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA   Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA   She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA   Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA   Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA   Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA   Rubin E.M., Lucas S.M.;
RT   "The DNA sequence and biology of human chromosome 19.";
RL   Nature 428:529-535(2004).
RN   [5]
RP   FUNCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX   PubMed=18624290; DOI=10.1002/eji.200838434;
RA   Della Chiesa M., Romeo E., Falco M., Balsamo M., Augugliaro R., Moretta L.,
RA   Bottino C., Moretta A., Vitale M.;
RT   "Evidence that the KIR2DS5 gene codes for a surface receptor triggering
RT   natural killer cell function.";
RL   Eur. J. Immunol. 38:2284-2289(2008).
RN   [6]
RP   SUBCELLULAR LOCATION.
RX   PubMed=18682925; DOI=10.1007/s00251-008-0322-2;
RA   Steiner N.K., Dakshanamurthy S., VandenBussche C.J., Hurley C.K.;
RT   "Extracellular domain alterations impact surface expression of stimulatory
RT   natural killer cell receptor KIR2DS5.";
RL   Immunogenetics 60:655-667(2008).
RN   [7]
RP   INTERACTION WITH TYROBP, AND SUBCELLULAR LOCATION.
RX   PubMed=23715743; DOI=10.1189/jlb.0213093;
RA   Mulrooney T.J., Posch P.E., Hurley C.K.;
RT   "DAP12 impacts trafficking and surface stability of killer immunoglobulin-
RT   like receptors on natural killer cells.";
RL   J. Leukoc. Biol. 94:301-313(2013).
CC   -!- FUNCTION: Receptor on natural killer (NK) cells for some HLA-C alleles
CC       such as w6. Does not inhibit the activity of NK cells.
CC       {ECO:0000269|PubMed:9430221}.
CC   -!- SUBUNIT: Interacts with the adapter protein TYROBP/DAP12; the
CC       interaction enhances KIR2DS1 stability at the cell surface.
CC       {ECO:0000269|PubMed:23715743}.
CC   -!- INTERACTION:
CC       Q14954; P10321: HLA-C; NbExp=7; IntAct=EBI-2865976, EBI-1051396;
CC   -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18682925,
CC       ECO:0000269|PubMed:23715743, ECO:0000269|PubMed:9430221}; Single-pass
CC       type I membrane protein {ECO:0000255}.
CC   -!- TISSUE SPECIFICITY: Expressed by NK cells.
CC       {ECO:0000269|PubMed:9430221}.
CC   -!- SIMILARITY: Belongs to the immunoglobulin superfamily. {ECO:0000305}.
CC   -!- CAUTION: The KIR2DS1 gene is not directly represented on the GRCh38
CC       primary reference genome assembly but on alternate loci of that
CC       assembly. {ECO:0000305}.
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DR   EMBL; X89892; CAA61982.1; -; mRNA.
DR   EMBL; AF022046; AAB95319.1; -; mRNA.
DR   EMBL; JX008030; AFV74766.1; -; Genomic_DNA.
DR   EMBL; KP420440; AJI81009.1; -; Genomic_DNA.
DR   EMBL; KP420441; AMR59360.1; -; Genomic_DNA.
DR   EMBL; AL133414; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; KU645196; ANJ04800.1; -; Genomic_DNA.
DR   EMBL; CU459006; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; GU182339; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; GU182352; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; GU182355; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; GU182359; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   RefSeq; NP_055327.1; NM_014512.1.
DR   AlphaFoldDB; Q14954; -.
DR   SMR; Q14954; -.
DR   BioGRID; 110007; 2.
DR   IntAct; Q14954; 5.
DR   GlyGen; Q14954; 4 sites.
DR   iPTMnet; Q14954; -.
DR   PhosphoSitePlus; Q14954; -.
DR   BioMuta; KIR2DS1; -.
DR   DMDM; 13124324; -.
DR   jPOST; Q14954; -.
DR   MassIVE; Q14954; -.
DR   PeptideAtlas; Q14954; -.
DR   PRIDE; Q14954; -.
DR   ProteomicsDB; 60257; -.
DR   DNASU; 3806; -.
DR   Ensembl; ENST00000611996.1; ENSP00000482170.1; ENSG00000276327.1.
DR   Ensembl; ENST00000612447.1; ENSP00000481628.1; ENSG00000278304.1.
DR   Ensembl; ENST00000617661.1; ENSP00000483434.1; ENSG00000278120.1.
DR   Ensembl; ENST00000618071.1; ENSP00000482900.1; ENSG00000273603.1.
DR   Ensembl; ENST00000621207.1; ENSP00000482060.1; ENSG00000275421.1.
DR   Ensembl; ENST00000622039.1; ENSP00000478711.1; ENSG00000273517.1.
DR   Ensembl; ENST00000638832.1; ENSP00000491232.1; ENSG00000284560.3.
DR   Ensembl; ENST00000639093.1; ENSP00000492239.1; ENSG00000284150.3.
DR   Ensembl; ENST00000639232.1; ENSP00000492347.1; ENSG00000284120.3.
DR   Ensembl; ENST00000643062.1; ENSP00000494266.1; ENSG00000284120.3.
DR   Ensembl; ENST00000644318.1; ENSP00000495438.1; ENSG00000284150.3.
DR   Ensembl; ENST00000645834.1; ENSP00000494623.1; ENSG00000284560.3.
DR   GeneID; 3806; -.
DR   KEGG; hsa:3806; -.
DR   UCSC; uc061dvn.1; human.
DR   CTD; 3806; -.
DR   DisGeNET; 3806; -.
DR   GeneCards; KIR2DS1; -.
DR   HGNC; HGNC:6333; KIR2DS1.
DR   MIM; 604952; gene.
DR   neXtProt; NX_Q14954; -.
DR   PharmGKB; PA30118; -.
DR   InParanoid; Q14954; -.
DR   OrthoDB; 1055520at2759; -.
DR   PathwayCommons; Q14954; -.
DR   Reactome; R-HSA-198933; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.
DR   Reactome; R-HSA-2172127; DAP12 interactions.
DR   SignaLink; Q14954; -.
DR   BioGRID-ORCS; 3806; 0 hits in 31 CRISPR screens.
DR   GenomeRNAi; 3806; -.
DR   Pharos; Q14954; Tdark.
DR   PRO; PR:Q14954; -.
DR   Proteomes; UP000005640; Chromosome 19.
DR   RNAct; Q14954; protein.
DR   GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
DR   GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR   GO; GO:0004888; F:transmembrane signaling receptor activity; NAS:UniProtKB.
DR   GO; GO:0006955; P:immune response; NAS:UniProtKB.
DR   Gene3D; 2.60.40.10; -; 2.
DR   InterPro; IPR036179; Ig-like_dom_sf.
DR   InterPro; IPR013783; Ig-like_fold.
DR   InterPro; IPR003599; Ig_sub.
DR   InterPro; IPR013151; Immunoglobulin.
DR   Pfam; PF00047; ig; 2.
DR   SMART; SM00409; IG; 2.
DR   SUPFAM; SSF48726; SSF48726; 2.
PE   1: Evidence at protein level;
KW   Cell membrane; Disulfide bond; Glycoprotein; Immunoglobulin domain;
KW   Membrane; Receptor; Reference proteome; Repeat; Signal; Transmembrane;
KW   Transmembrane helix.
FT   SIGNAL          1..21
FT                   /evidence="ECO:0000250"
FT   CHAIN           22..304
FT                   /note="Killer cell immunoglobulin-like receptor 2DS1"
FT                   /id="PRO_0000015082"
FT   TOPO_DOM        22..245
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        246..264
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        265..304
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   DOMAIN          42..107
FT                   /note="Ig-like C2-type 1"
FT   DOMAIN          142..205
FT                   /note="Ig-like C2-type 2"
FT   REGION          220..239
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          280..304
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        288..304
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   CARBOHYD        67
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        84
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        144
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        178
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   DISULFID        49..100
FT                   /evidence="ECO:0000250|UniProtKB:P43626"
FT   DISULFID        149..198
FT                   /evidence="ECO:0000250|UniProtKB:P43626"
FT   VARIANT         91
FT                   /note="K -> R (in dbSNP:rs687485)"
FT                   /evidence="ECO:0000269|PubMed:8627176,
FT                   ECO:0000269|PubMed:9430221"
FT                   /id="VAR_010318"
FT   VARIANT         111
FT                   /note="L -> V (in dbSNP:rs687885)"
FT                   /id="VAR_059419"
SQ   SEQUENCE   304 AA;  33618 MW;  FD323A0EB48B13C2 CRC64;
     MSLTVVSMAC VGFFLLQGAW PHEGVHRKPS LLAHPGRLVK SEETVILQCW SDVMFEHFLL
     HREGMFNDTL RLIGEHHDGV SKANFSISRM KQDLAGTYRC YGSVTHSPYQ LSAPSDPLDI
     VIIGLYEKPS LSAQPGPTVL AGENVTLSCS SRSSYDMYHL SREGEAHERR LPAGTKVNGT
     FQANFPLGPA THGGTYRCFG SFRDSPYEWS KSSDPLLVSV TGNPSNSWPS PTEPSSETGN
     PRHLHVLIGT SVVKIPFTIL LFFLLHRWCS DKKNAAVMDQ EPAGNRTVNS EDSDEQDHQE
     VSYA
 
 
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