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Killer cell immunoglobulin-like receptor 2DL4 (CD158 antigen-like family member D) (G9P) (Killer cell inhibitory receptor 103AS) (KIR-103AS) (MHC class I NK cell receptor KIR103AS) (CD antigen CD158d)

 KI2L4_HUMAN             Reviewed;         377 AA.
Q99706; A8W795; O14621; O14622; O14623; O14624; O43534; P78400;
P78401; Q8N738; Q99559; Q99560; Q99561; Q99562; Q9UQJ7;
21-FEB-2001, integrated into UniProtKB/Swiss-Prot.
08-MAR-2011, sequence version 3.
12-SEP-2018, entry version 175.
RecName: Full=Killer cell immunoglobulin-like receptor 2DL4;
AltName: Full=CD158 antigen-like family member D;
AltName: Full=G9P;
AltName: Full=Killer cell inhibitory receptor 103AS;
Short=KIR-103AS;
AltName: Full=MHC class I NK cell receptor KIR103AS;
AltName: CD_antigen=CD158d;
Flags: Precursor;
Name=KIR2DL4; Synonyms=CD158D, KIR103AS;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS LEU-87; THR-138; ALA-209 AND
HIS-371.
PubMed=8946682; DOI=10.1111/j.1399-0039.1996.tb02647.x;
Selvakumar A., Steffens U., Dupont B.;
"NK cell receptor gene of the KIR family with two IG domains but
highest homology to KIR receptors with three IG domains.";
Tissue Antigens 48:285-294(1996).
[2]
NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS CYS-53; THR-138; ALA-209;
ASN-271 AND HIS-371.
PubMed=9430220; DOI=10.1016/S1074-7613(00)80393-3;
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.;
"Functionally and structurally distinct NK cell receptor repertoires
in the peripheral blood of two human donors.";
Immunity 7:739-751(1997).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANTS LEU-87; THR-138;
ALA-209 AND HIS-371.
PubMed=9059894; DOI=10.1111/j.1600-065X.1997.tb00951.x;
Selvakumar A., Steffens U., Dupont B.;
"Polymorphism and domain variability of human killer cell inhibitory
receptors.";
Immunol. Rev. 155:183-196(1997).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 3; 4 AND 5), AND
VARIANTS LEU-87; THR-138; ALA-209; ASN-271 AND HIS-371.
PubMed=9234477; DOI=10.1111/j.1399-0039.1997.tb02803.x;
Selvakumar A., Steffens U., Palanisamy N., Chaganti R.S.K., Dupont B.;
"Genomic organization and allelic polymorphism of the human killer
cell inhibitory receptor gene KIR103.";
Tissue Antigens 49:564-573(1997).
[5]
NUCLEOTIDE SEQUENCE [MRNA] (ALLELE KIR2DL4*0501), AND VARIANT CYS-53.
PubMed=18082267; DOI=10.1016/j.molimm.2007.10.038;
Schellekens J., Tilanus M.G., Rozemuller E.H.;
"The elucidation of KIR2DL4 gene polymorphism.";
Mol. Immunol. 45:1900-1906(2008).
[6]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 6), AND VARIANTS
THR-138; ALA-209 AND ASN-271.
TISSUE=Lymphoid tissue;
Biassoni R.;
Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS CYS-53 AND ASN-271.
Chan H.W., Salter R.D.;
"Exon deletion contributes to structural diversity of 2DL4 killer
inhibitory receptors.";
Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases.
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15057824; DOI=10.1038/nature02399;
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.;
"The DNA sequence and biology of human chromosome 19.";
Nature 428:529-535(2004).
[9]
INTERACTION WITH ARRB2.
PubMed=18604210; DOI=10.1038/ni.1635;
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.;
"An essential function for beta-arrestin 2 in the inhibitory signaling
of natural killer cells.";
Nat. Immunol. 9:898-907(2008).
-!- FUNCTION: Receptor on natural killer (NK) cells for HLA-C alleles.
Inhibits the activity of NK cells thus preventing cell lysis.
-!- SUBUNIT: Interacts with ARRB2. {ECO:0000269|PubMed:18604210}.
-!- INTERACTION:
Q93062:RBPMS; NbExp=3; IntAct=EBI-10294579, EBI-740322;
Q15654:TRIP6; NbExp=3; IntAct=EBI-10294579, EBI-742327;
-!- SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane
protein.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=6;
Name=1;
IsoId=Q99706-1; Sequence=Displayed;
Name=2; Synonyms=AST;
IsoId=Q99706-2; Sequence=VSP_002609;
Name=3; Synonyms=AS;
IsoId=Q99706-3; Sequence=VSP_002610;
Name=4; Synonyms=ASD1;
IsoId=Q99706-4; Sequence=VSP_002609, VSP_002610;
Name=5; Synonyms=ASD2;
IsoId=Q99706-5; Sequence=VSP_002609, VSP_002610, VSP_002611;
Name=6;
IsoId=Q99706-6; Sequence=VSP_002608, VSP_002609, VSP_002610;
-!- SIMILARITY: Belongs to the immunoglobulin superfamily.
{ECO:0000305}.
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EMBL; U71199; AAB49756.1; -; mRNA.
EMBL; AF034771; AAB95164.1; -; mRNA.
EMBL; AF034772; AAB95165.1; -; mRNA.
EMBL; AF034773; AAB95166.1; -; mRNA.
EMBL; U73394; AAC51146.1; -; mRNA.
EMBL; AF003123; AAB61926.1; -; Genomic_DNA.
EMBL; AF003116; AAB61926.1; JOINED; Genomic_DNA.
EMBL; AF003117; AAB61926.1; JOINED; Genomic_DNA.
EMBL; AF003118; AAB61926.1; JOINED; Genomic_DNA.
EMBL; AF003119; AAB61926.1; JOINED; Genomic_DNA.
EMBL; AF003121; AAB61926.1; JOINED; Genomic_DNA.
EMBL; AF003122; AAB61926.1; JOINED; Genomic_DNA.
EMBL; AF003120; AAB61926.1; JOINED; Genomic_DNA.
EMBL; AF002979; AAB71387.1; -; mRNA.
EMBL; AF002980; AAB71388.1; -; mRNA.
EMBL; AF002981; AAB71389.1; -; mRNA.
EMBL; AF002982; AAB71390.1; -; mRNA.
EMBL; EU194342; ABW73961.1; -; mRNA.
EMBL; X97229; CAA65868.1; -; mRNA.
EMBL; X99479; CAA67842.1; -; mRNA.
EMBL; X99480; CAA67843.1; -; mRNA.
EMBL; X99481; CAA67844.1; -; mRNA.
EMBL; AF110035; AAD24763.1; -; Genomic_DNA.
EMBL; AF110032; AAD24763.1; JOINED; Genomic_DNA.
EMBL; AF110033; AAD24763.1; JOINED; Genomic_DNA.
EMBL; AF110034; AAD24763.1; JOINED; Genomic_DNA.
EMBL; AC011501; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL133414; -; NOT_ANNOTATED_CDS; Genomic_DNA.
CCDS; CCDS42619.1; -. [Q99706-3]
RefSeq; NP_001074239.1; NM_001080770.1. [Q99706-3]
RefSeq; NP_002246.5; NM_002255.5.
UniGene; Hs.661219; -.
UniGene; Hs.743945; -.
PDB; 3WYR; X-ray; 2.80 A; A/B=24-218.
PDBsum; 3WYR; -.
ProteinModelPortal; Q99706; -.
SMR; Q99706; -.
BioGrid; 110006; 5.
IntAct; Q99706; 6.
iPTMnet; Q99706; -.
PhosphoSitePlus; Q99706; -.
BioMuta; KIR2DL4; -.
DMDM; 325511396; -.
PeptideAtlas; Q99706; -.
PRIDE; Q99706; -.
ProteomicsDB; 78417; -.
ProteomicsDB; 78418; -. [Q99706-2]
ProteomicsDB; 78419; -. [Q99706-3]
ProteomicsDB; 78420; -. [Q99706-4]
ProteomicsDB; 78421; -. [Q99706-5]
ProteomicsDB; 78422; -. [Q99706-6]
DNASU; 3805; -.
Ensembl; ENST00000345540; ENSP00000339634; ENSG00000189013. [Q99706-3]
Ensembl; ENST00000357494; ENSP00000350088; ENSG00000189013. [Q99706-4]
Ensembl; ENST00000396293; ENSP00000379588; ENSG00000189013. [Q99706-6]
Ensembl; ENST00000611022; ENSP00000484469; ENSG00000274232. [Q99706-3]
Ensembl; ENST00000612573; ENSP00000482206; ENSG00000275456.
Ensembl; ENST00000612660; ENSP00000479179; ENSG00000275317.
Ensembl; ENST00000613053; ENSP00000484389; ENSG00000277362.
Ensembl; ENST00000614653; ENSP00000478362; ENSG00000277750.
Ensembl; ENST00000614680; ENSP00000477984; ENSG00000273575. [Q99706-3]
Ensembl; ENST00000615232; ENSP00000479874; ENSG00000274232. [Q99706-6]
Ensembl; ENST00000615243; ENSP00000482454; ENSG00000274232. [Q99706-4]
Ensembl; ENST00000615970; ENSP00000477887; ENSG00000278271.
Ensembl; ENST00000616354; ENSP00000483782; ENSG00000278430.
Ensembl; ENST00000616384; ENSP00000479347; ENSG00000276044. [Q99706-3]
Ensembl; ENST00000618297; ENSP00000477886; ENSG00000278074.
Ensembl; ENST00000618358; ENSP00000483101; ENSG00000274609.
Ensembl; ENST00000618567; ENSP00000482383; ENSG00000276779.
Ensembl; ENST00000619637; ENSP00000478491; ENSG00000274955.
Ensembl; ENST00000619848; ENSP00000480801; ENSG00000277964.
Ensembl; ENST00000620484; ENSP00000477601; ENSG00000275317.
Ensembl; ENST00000620486; ENSP00000482452; ENSG00000278430.
Ensembl; ENST00000621182; ENSP00000479175; ENSG00000275699. [Q99706-3]
Ensembl; ENST00000638231; ENSP00000492368; ENSG00000284460. [Q99706-6]
Ensembl; ENST00000638248; ENSP00000491734; ENSG00000284365. [Q99706-4]
Ensembl; ENST00000638297; ENSP00000492029; ENSG00000284365. [Q99706-6]
Ensembl; ENST00000638563; ENSP00000491532; ENSG00000284013. [Q99706-4]
Ensembl; ENST00000638897; ENSP00000492653; ENSG00000283961. [Q99706-4]
Ensembl; ENST00000639460; ENSP00000491648; ENSG00000283869. [Q99706-6]
Ensembl; ENST00000639533; ENSP00000491289; ENSG00000283961. [Q99706-6]
Ensembl; ENST00000639577; ENSP00000492722; ENSG00000284013. [Q99706-3]
Ensembl; ENST00000639740; ENSP00000492606; ENSG00000284509. [Q99706-6]
Ensembl; ENST00000639866; ENSP00000491202; ENSG00000283961. [Q99706-3]
Ensembl; ENST00000640163; ENSP00000491890; ENSG00000284013. [Q99706-6]
Ensembl; ENST00000640814; ENSP00000491623; ENSG00000284365. [Q99706-3]
GeneID; 3805; -.
KEGG; hsa:3805; -.
UCSC; uc002qhg.5; human. [Q99706-1]
CTD; 3805; -.
DisGeNET; 3805; -.
EuPathDB; HostDB:ENSG00000189013.14; -.
GeneCards; KIR2DL4; -.
HGNC; HGNC:6332; KIR2DL4.
MIM; 604945; gene.
neXtProt; NX_Q99706; -.
OpenTargets; ENSG00000189013; -.
PharmGKB; PA30117; -.
GeneTree; ENSGT00760000119033; -.
HOGENOM; HOG000234396; -.
HOVERGEN; HBG074353; -.
InParanoid; Q99706; -.
KO; K07981; -.
OrthoDB; EOG091G0APE; -.
TreeFam; TF352669; -.
Reactome; R-HSA-198933; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.
SIGNOR; Q99706; -.
GeneWiki; KIR2DL4; -.
GenomeRNAi; 3805; -.
PRO; PR:Q99706; -.
Proteomes; UP000005640; Chromosome 19.
Bgee; ENSG00000189013; Expressed in 51 organ(s), highest expression level in blood.
ExpressionAtlas; Q99706; baseline and differential.
Genevisible; Q99706; HS.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0016020; C:membrane; HDA:UniProtKB.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0004888; F:transmembrane signaling receptor activity; TAS:ProtInc.
GO; GO:0006968; P:cellular defense response; TAS:ProtInc.
GO; GO:0050776; P:regulation of immune response; TAS:Reactome.
GO; GO:0007165; P:signal transduction; TAS:ProtInc.
Gene3D; 2.60.40.10; -; 2.
InterPro; IPR036179; Ig-like_dom_sf.
InterPro; IPR013783; Ig-like_fold.
InterPro; IPR003599; Ig_sub.
InterPro; IPR013151; Immunoglobulin.
Pfam; PF00047; ig; 2.
SMART; SM00409; IG; 2.
SUPFAM; SSF48726; SSF48726; 2.
1: Evidence at protein level;
3D-structure; Alternative splicing; Cell membrane; Complete proteome;
Disulfide bond; Glycoprotein; Immunoglobulin domain; Membrane;
Polymorphism; Receptor; Reference proteome; Repeat; Signal;
Transmembrane; Transmembrane helix.
SIGNAL 1 21 {ECO:0000250}.
CHAIN 22 377 Killer cell immunoglobulin-like receptor
2DL4.
/FTId=PRO_0000015081.
TOPO_DOM 22 242 Extracellular. {ECO:0000255}.
TRANSMEM 243 263 Helical. {ECO:0000255}.
TOPO_DOM 264 377 Cytoplasmic. {ECO:0000255}.
DOMAIN 44 104 Ig-like C2-type 1.
DOMAIN 139 202 Ig-like C2-type 2.
CARBOHYD 141 141 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 175 175 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 51 97 {ECO:0000250}.
DISULFID 146 195 {ECO:0000250}.
VAR_SEQ 27 121 Missing (in isoform 6).
{ECO:0000303|Ref.6}.
/FTId=VSP_002608.
VAR_SEQ 219 235 Missing (in isoform 2, isoform 4, isoform
5 and isoform 6).
{ECO:0000303|PubMed:9059894,
ECO:0000303|PubMed:9234477,
ECO:0000303|Ref.6}.
/FTId=VSP_002609.
VAR_SEQ 236 270 Missing (in isoform 3, isoform 4, isoform
5 and isoform 6).
{ECO:0000303|PubMed:9234477,
ECO:0000303|Ref.6}.
/FTId=VSP_002610.
VAR_SEQ 271 288 Missing (in isoform 5).
{ECO:0000303|PubMed:9234477}.
/FTId=VSP_002611.
VARIANT 53 53 Y -> C (in dbSNP:rs618835).
{ECO:0000269|PubMed:18082267,
ECO:0000269|PubMed:9430220,
ECO:0000269|Ref.7}.
/FTId=VAR_010307.
VARIANT 87 87 V -> L. {ECO:0000269|PubMed:8946682,
ECO:0000269|PubMed:9059894,
ECO:0000269|PubMed:9234477}.
/FTId=VAR_010308.
VARIANT 138 138 A -> T (in dbSNP:rs1051454).
{ECO:0000269|PubMed:8946682,
ECO:0000269|PubMed:9059894,
ECO:0000269|PubMed:9234477,
ECO:0000269|PubMed:9430220,
ECO:0000269|Ref.6}.
/FTId=VAR_010309.
VARIANT 209 209 P -> A (in dbSNP:rs1051456).
{ECO:0000269|PubMed:8946682,
ECO:0000269|PubMed:9059894,
ECO:0000269|PubMed:9234477,
ECO:0000269|PubMed:9430220,
ECO:0000269|Ref.6}.
/FTId=VAR_010310.
VARIANT 271 273 DAA -> MLL (in allele KIR2DL4*0501).
/FTId=VAR_064649.
VARIANT 271 271 D -> N. {ECO:0000269|PubMed:9234477,
ECO:0000269|PubMed:9430220,
ECO:0000269|Ref.6, ECO:0000269|Ref.7}.
/FTId=VAR_010311.
VARIANT 274 377 Missing (in allele KIR2DL4*0501).
/FTId=VAR_065101.
VARIANT 371 371 N -> H. {ECO:0000269|PubMed:8946682,
ECO:0000269|PubMed:9059894,
ECO:0000269|PubMed:9234477,
ECO:0000269|PubMed:9430220}.
/FTId=VAR_010312.
CONFLICT 47 47 V -> A (in Ref. 5; ABW73961).
{ECO:0000305}.
CONFLICT 229 229 T -> P (in Ref. 7; AAD24763).
{ECO:0000305}.
STRAND 32 37 {ECO:0000244|PDB:3WYR}.
STRAND 39 42 {ECO:0000244|PDB:3WYR}.
STRAND 47 52 {ECO:0000244|PDB:3WYR}.
STRAND 54 67 {ECO:0000244|PDB:3WYR}.
HELIX 71 73 {ECO:0000244|PDB:3WYR}.
STRAND 76 84 {ECO:0000244|PDB:3WYR}.
HELIX 89 91 {ECO:0000244|PDB:3WYR}.
STRAND 93 100 {ECO:0000244|PDB:3WYR}.
STRAND 102 104 {ECO:0000244|PDB:3WYR}.
STRAND 115 120 {ECO:0000244|PDB:3WYR}.
STRAND 127 132 {ECO:0000244|PDB:3WYR}.
STRAND 134 136 {ECO:0000244|PDB:3WYR}.
STRAND 141 150 {ECO:0000244|PDB:3WYR}.
STRAND 153 159 {ECO:0000244|PDB:3WYR}.
STRAND 162 169 {ECO:0000244|PDB:3WYR}.
STRAND 171 173 {ECO:0000244|PDB:3WYR}.
TURN 174 176 {ECO:0000244|PDB:3WYR}.
STRAND 177 186 {ECO:0000244|PDB:3WYR}.
STRAND 191 198 {ECO:0000244|PDB:3WYR}.
STRAND 213 217 {ECO:0000244|PDB:3WYR}.
SEQUENCE 377 AA; 41487 MW; 888B3297332D6C59 CRC64;
MSMSPTVIIL ACLGFFLDQS VWAHVGGQDK PFCSAWPSAV VPQGGHVTLR CHYRRGFNIF
TLYKKDGVPV PELYNRIFWN SFLISPVTPA HAGTYRCRGF HPHSPTEWSA PSNPLVIMVT
GLYEKPSLTA RPGPTVRAGE NVTLSCSSQS SFDIYHLSRE GEAHELRLPA VPSINGTFQA
DFPLGPATHG ETYRCFGSFH GSPYEWSDPS DPLPVSVTGN PSSSWPSPTE PSFKTGIARH
LHAVIRYSVA IILFTILPFF LLHRWCSKKK DAAVMNQEPA GHRTVNREDS DEQDPQEVTY
AQLDHCIFTQ RKITGPSQRS KRPSTDTSVC IELPNAEPRA LSPAHEHHSQ ALMGSSRETT
ALSQTQLASS NVPAAGI


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EIAAB27286 Killer cell lectin-like receptor subfamily K member 1,Klrk1,Mouse,Mus musculus,NK cell receptor D,Nkg2d,NKG2-D type II integral membrane protein,NKG2-D-activating NK receptor
EIAAB26599 Homo sapiens,Human,LY95,Lymphocyte antigen 95 homolog,Natural cytotoxicity triggering receptor 2,Natural killer cell p44-related protein,NCR2,NK cell-activating receptor,NKp44,NK-p44
EIAAB27284 Killer cell lectin-like receptor subfamily K member 1,Klrk1,NK cell receptor D,NK lectin-like receptor,Nkg2d,NKG2-D type II integral membrane protein,NKG2-D-activating NK receptor,NKLLR,Nkrp2,NKR-P2,R
EIAAB27285 D12S2489E,Homo sapiens,Human,Killer cell lectin-like receptor subfamily K member 1,KLRK1,NK cell receptor D,NKG2D,NKG2-D type II integral membrane protein,NKG2-D-activating NK receptor
EIAAB26595 hNKp46,Homo sapiens,Human,LY94,Lymphocyte antigen 94 homolog,Natural cytotoxicity triggering receptor 1,Natural killer cell p46-related protein,NCR1,NK cell-activating receptor,NKp46,NK-p46
EIAAB24768 Allergin-1,Allergy inhibitory receptor 1,Gm885,Mast cell Ag-32,Mast cell antigen 32,Mast cell immunoglobulin-like receptor 1,Mca32,MCA-32,Milr1,Mouse,Mus musculus
EIAAB24767 Allergin-1,Allergy inhibitory receptor 1,Mast cell Ag-32,Mast cell antigen 32,Mast cell immunoglobulin-like receptor 1,Mca32,MCA-32,Milr1,Rat,Rattus norvegicus


 

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