KI3S1_HUMAN
ID KI3S1_HUMAN Reviewed; 382 AA.
AC Q14943; A0A0G2JNN4; Q5UCD2;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 27-SEP-2017, sequence version 2.
DT 25-MAY-2022, entry version 172.
DE RecName: Full=Killer cell immunoglobulin-like receptor 3DS1 {ECO:0000305};
DE AltName: Full=Natural killer-associated transcript 10;
DE Short=NKAT-10;
DE Flags: Precursor;
GN Name=KIR3DS1 {ECO:0000312|HGNC:HGNC:6340}; Synonyms=NKAT10;
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] (ALLELE 3DS1*010).
RX PubMed=8662091; DOI=10.1007/bf02602590;
RA Doehring C., Samaridis J., Colonna M.;
RT "Alternatively spliced forms of human killer inhibitory receptors.";
RL Immunogenetics 44:227-230(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE KIR3DS1*014).
RA Norman P.J., Pando M., Yawata N., Yawata M., Tyan D., Parham P.;
RT "Diversity of KIR3DL1. i. allele confirmation; genomic DNA from individuals
RT other than original donor.";
RL Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE KIR3DS1*014).
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] (ALLELE KIR3DS1*055).
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, SUBUNIT, AND INTERACTION WITH HLA-F.
RX PubMed=27455421; DOI=10.1038/ni.3513;
RA Garcia-Beltran W.F., Hoelzemer A., Martrus G., Chung A.W., Pacheco Y.,
RA Simoneau C.R., Rucevic M., Lamothe-Molina P.A., Pertel T., Kim T.E.,
RA Dugan H., Alter G., Dechanet-Merville J., Jost S., Carrington M.,
RA Altfeld M.;
RT "Open conformers of HLA-F are high-affinity ligands of the activating NK-
RT cell receptor KIR3DS1.";
RL Nat. Immunol. 17:1067-1074(2016).
RN [6]
RP SUBUNIT, AND INTERACTION WITH HLA-F.
RX PubMed=28636952; DOI=10.1016/j.immuni.2017.06.002;
RA Dulberger C.L., McMurtrey C.P., Holzemer A., Neu K.E., Liu V.,
RA Steinbach A.M., Garcia-Beltran W.F., Sulak M., Jabri B., Lynch V.J.,
RA Altfeld M., Hildebrand W.H., Adams E.J.;
RT "Human Leukocyte Antigen F Presents Peptides and Regulates Immunity through
RT Interactions with NK Cell Receptors.";
RL Immunity 46:1018-1029(2017).
RN [7]
RP POLYMORPHISM.
RX PubMed=10781084; DOI=10.1073/pnas.080588597;
RA Wilson M.J., Torkar M., Haude A., Milne S., Jones T., Sheer D., Beck S.,
RA Trowsdale J.;
RT "Plasticity in the organization and sequences of human KIR/ILT gene
RT families.";
RL Proc. Natl. Acad. Sci. U.S.A. 97:4778-4783(2000).
RN [8]
RP POLYMORPHISM.
RX PubMed=11513141; DOI=10.1034/j.1600-065x.2001.1810102.x;
RA Trowsdale J., Barten R., Haude A., Stewart C.A., Beck S., Wilson M.J.;
RT "The genomic context of natural killer receptor extended gene families.";
RL Immunol. Rev. 181:20-38(2001).
RN [9]
RP VARIANT HIS-166.
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).
CC -!- FUNCTION: Receptor on natural killer (NK) cells for MHC class I
CC molecules. Upon interaction with peptide-free HLA-F open conformer,
CC triggers NK cell degranulation and anti-viral cytokine production.
CC {ECO:0000269|PubMed:27455421}.
CC -!- SUBUNIT: Interacts with HLA-F open conformer; this interaction is
CC direct. {ECO:0000269|PubMed:27455421, ECO:0000269|PubMed:28636952}.
CC -!- INTERACTION:
CC Q14943; Q5SUL5: HLA-A; NbExp=2; IntAct=EBI-15316524, EBI-8561769;
CC Q14943; P01889: HLA-B; NbExp=6; IntAct=EBI-15316524, EBI-1046513;
CC Q14943; P10321: HLA-C; NbExp=2; IntAct=EBI-15316524, EBI-1051396;
CC Q14943; P30511: HLA-F; NbExp=6; IntAct=EBI-15316524, EBI-2811134;
CC -!- SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane
CC protein.
CC -!- TISSUE SPECIFICITY: Expressed in NK and T-cell lines but not in B-
CC lymphoblastoid cell lines or in a colon carcinoma cell line.
CC -!- POLYMORPHISM: The KIR genes are located in a segment of DNA on 19q13.4
CC in the leukocyte receptor complex that has undergone expansion and
CC contraction over time, probably through unequal crossing-over. Thus,
CC KIR haplotypes vary in the number and types of genes, although a few
CC framework loci, such as the gene KIR3DL1, are present on all or nearly
CC all haplotypes. KIR3DL1 and KIR3DS1 segregate as alleles of the locus
CC KIR3DL1/3DS1. {ECO:0000269|PubMed:10781084,
CC ECO:0000269|PubMed:11513141}.
CC -!- SIMILARITY: Belongs to the immunoglobulin superfamily. {ECO:0000305}.
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DR EMBL; L76661; AAB36589.1; -; mRNA.
DR EMBL; AY760033; AAV32446.1; -; Genomic_DNA.
DR EMBL; JX008031; AFV74772.1; -; Genomic_DNA.
DR EMBL; CU459006; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; NP_001077008.1; NM_001083539.2.
DR RefSeq; NP_001269099.1; NM_001282170.1.
DR RefSeq; NP_001269100.1; NM_001282171.1.
DR RefSeq; XP_016885749.1; XM_017030260.1.
DR AlphaFoldDB; Q14943; -.
DR SMR; Q14943; -.
DR BioGRID; 306831; 26.
DR IntAct; Q14943; 30.
DR GlyGen; Q14943; 3 sites.
DR iPTMnet; Q14943; -.
DR PhosphoSitePlus; Q14943; -.
DR BioMuta; KIR3DS1; -.
DR DMDM; 2833258; -.
DR jPOST; Q14943; -.
DR MassIVE; Q14943; -.
DR PeptideAtlas; Q14943; -.
DR PRIDE; Q14943; -.
DR ProteomicsDB; 60253; -.
DR DNASU; 3813; -.
DR Ensembl; ENST00000614217.4; ENSP00000481772.1; ENSG00000275434.5.
DR GeneID; 3813; -.
DR KEGG; hsa:3813; -.
DR UCSC; uc061dvg.1; human.
DR CTD; 3813; -.
DR DisGeNET; 3813; -.
DR GeneCards; KIR3DS1; -.
DR HGNC; HGNC:6340; KIR3DS1.
DR MIM; 604946; gene.
DR neXtProt; NX_Q14943; -.
DR OpenTargets; ENSG00000275434; -.
DR InParanoid; Q14943; -.
DR OrthoDB; 466470at2759; -.
DR PhylomeDB; Q14943; -.
DR PathwayCommons; Q14943; -.
DR Reactome; R-HSA-2172127; DAP12 interactions.
DR SignaLink; Q14943; -.
DR BioGRID-ORCS; 3813; 0 hits in 36 CRISPR screens.
DR GenomeRNAi; 3813; -.
DR Pharos; Q14943; Tdark.
DR PRO; PR:Q14943; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q14943; protein.
DR GO; GO:0005887; C:integral component of plasma membrane; NAS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0032393; F:MHC class I receptor activity; NAS:UniProtKB.
DR GO; GO:0006955; P:immune response; NAS:UniProtKB.
DR GO; GO:0030101; P:natural killer cell activation; NAS:UniProtKB.
DR Gene3D; 2.60.40.10; -; 3.
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; 3.
DR SMART; SM00409; IG; 3.
DR SUPFAM; SSF48726; SSF48726; 3.
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..382
FT /note="Killer cell immunoglobulin-like receptor 3DS1"
FT /id="PRO_0000015092"
FT TOPO_DOM 22..340
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 341..360
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 361..382
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 42..102
FT /note="Ig-like C2-type 1"
FT DOMAIN 137..202
FT /note="Ig-like C2-type 2"
FT DOMAIN 237..300
FT /note="Ig-like C2-type 3"
FT CARBOHYD 92
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 179
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 273
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 49..95
FT /evidence="ECO:0000250"
FT DISULFID 144..195
FT /evidence="ECO:0000250"
FT DISULFID 244..293
FT /evidence="ECO:0000250"
FT VARIANT 2
FT /note="L -> S (in allele KIR3DS1*010; dbSNP:rs605219)"
FT /id="VAR_056093"
FT VARIANT 13
FT /note="L -> F (in allele KIR3DS1*014; dbSNP:rs1142881)"
FT /id="VAR_078992"
FT VARIANT 68
FT /note="V -> I (in dbSNP:rs643347)"
FT /id="VAR_056094"
FT VARIANT 157..159
FT /note="REW -> KEG (in allele KIR3DS1*014)"
FT /id="VAR_078993"
FT VARIANT 157
FT /note="R -> K (in allele KIR3DS1*010)"
FT /id="VAR_078994"
FT VARIANT 166
FT /note="R -> H (in dbSNP:rs375468097)"
FT /evidence="ECO:0000269|PubMed:9430221"
FT /id="VAR_010377"
FT VARIANT 203
FT /note="P -> S (in dbSNP:rs2273731)"
FT /id="VAR_056095"
FT VARIANT 220
FT /note="L -> P (in dbSNP:rs680891)"
FT /id="VAR_056096"
FT VARIANT 259
FT /note="G -> R (in dbSNP:rs1049215)"
FT /id="VAR_056097"
FT VARIANT 369..382
FT /note="KCCCNGPRACREQK -> NAAVMDQEPAGNRSEQRGF (in allele
FT KIR3DS1*010)"
FT /id="VAR_078995"
SQ SEQUENCE 382 AA; 42475 MW; C6897933BCEA2EE0 CRC64;
MLLMVVSMAC VGLFLVQRAG PHMGGQDKPF LSAWPSAVVP RGGHVTLRCH YRHRFNNFML
YKEDRIHVPI FHGRIFQEGF NMSPVTTAHA GNYTCRGSHP HSPTGWSAPS NPMVIMVTGN
HRKPSLLAHP GPLVKSGERV ILQCWSDIMF EHFFLHREWI SKDPSRLVGQ IHDGVSKANF
SIGSMMRALA GTYRCYGSVT HTPYQLSAPS DPLDIVVTGL YEKPSLSAQP GPKVQAGESV
TLSCSSRSSY DMYHLSREGG AHERRLPAVR KVNRTFQADF PLGPATHGGT YRCFGSFRHS
PYEWSDPSDP LLVSVTGNPS SSWPSPTEPS SKSGNLRHLH ILIGTSVVKI PFTILLFFLL
HRWCSNKKKC CCNGPRACRE QK
