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
