LOCUS       NM_014218               1614 bp    mRNA    linear   PRI 06-AUG-2024
DEFINITION  Homo sapiens killer cell immunoglobulin like receptor, two Ig
            domains and long cytoplasmic tail 1 (KIR2DL1), mRNA.
ACCESSION   NM_014218 XM_006725438 XM_006725656 XM_006725791
VERSION     NM_014218.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1614)
  AUTHORS   Simeni,L.K., Ekali,G.L., Yengo,C.K., Wouambo,R.K., Fischer,J.,
            Bessong,O.M.A., Fokam,J., Yindom,L.M. and Nguedia,J.C.A.
  TITLE     KIR2DL1 gene is a surrogate marker of protection against
            infection-related hospitalization among HIV-1 unexposed versus
            exposed uninfected infants in Cameroon
  JOURNAL   BMC Immunol 25 (1), 54 (2024)
   PUBMED   39090586
  REMARK    GeneRIF: KIR2DL1 gene is a surrogate marker of protection against
            infection-related hospitalization among HIV-1 unexposed versus
            exposed uninfected infants in Cameroon.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1614)
  AUTHORS   Leijonhufvud,C., Sanz-Ortega,L., Schlums,H., Gaballa,A.,
            Andersson,A., Eriksson,C., Segerberg,F., Uhlin,M., Bryceson,Y.T.
            and Carlsten,M.
  TITLE     KIR2DS1 and KIR2DL1-C245 Dominantly Repress NK Cell Degranulation
            Triggered by Monoclonal or Bispecific Antibodies, whereas Education
            by Uptuning Inhibitory Killer Ig-related Receptors Exerts No
            Advantage in Ab-dependent Cellular Cytotoxicity
  JOURNAL   J Immunol 212 (5), 868-880 (2024)
   PUBMED   38240527
  REMARK    GeneRIF: KIR2DS1 and KIR2DL1-C245 Dominantly Repress NK Cell
            Degranulation Triggered by Monoclonal or Bispecific Antibodies,
            whereas Education by Uptuning Inhibitory Killer Ig-related
            Receptors Exerts No Advantage in Ab-dependent Cellular
            Cytotoxicity.
REFERENCE   3  (bases 1 to 1614)
  AUTHORS   Halimi,H., Mirzazadeh,S., Kalantar,K., Hajimaghsoodi,M., Ramzi,M.
            and Farjadian,S.
  TITLE     Activating KIR/HLA-I combinations as a risk factor of adult B-ALL
  JOURNAL   Hum Immunol 85 (2), 110750 (2024)
   PUBMED   38262874
  REMARK    GeneRIF: Activating KIR/HLA-I combinations as a risk factor of
            adult B-ALL.
REFERENCE   4  (bases 1 to 1614)
  AUTHORS   Wright,P.W., Li,H., Rahman,M.A., Anderson,E.M., Karwan,M.,
            Carrell,J. and Anderson,S.K.
  TITLE     The KIR2DL1 intermediate upstream element participates in gene
            activation
  JOURNAL   Immunogenetics 75 (6), 495-506 (2023)
   PUBMED   37801092
  REMARK    GeneRIF: The KIR2DL1 intermediate upstream element participates in
            gene activation.
REFERENCE   5  (bases 1 to 1614)
  AUTHORS   Woon,E.V., Nikolaou,D., MacLaran,K., Norman-Taylor,J., Bhagwat,P.,
            Cuff,A.O., Johnson,M.R. and Male,V.
  TITLE     Uterine NK cells underexpress KIR2DL1/S1 and LILRB1 in reproductive
            failure
  JOURNAL   Front Immunol 13, 1108163 (2023)
   PUBMED   36713400
  REMARK    GeneRIF: Uterine NK cells underexpress KIR2DL1/S1 and LILRB1 in
            reproductive failure.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1614)
  AUTHORS   Kim,J., Chwae,Y.J., Kim,M.Y., Choi,I.H., Park,J.H. and Kim,S.J.
  TITLE     Molecular basis of HLA-C recognition by p58 natural killer cell
            inhibitory receptors
  JOURNAL   J Immunol 159 (8), 3875-3882 (1997)
   PUBMED   9378975
REFERENCE   7  (bases 1 to 1614)
  AUTHORS   Fan,Q.R., Mosyak,L., Winter,C.C., Wagtmann,N., Long,E.O. and
            Wiley,D.C.
  TITLE     Structure of the inhibitory receptor for human natural killer cells
            resembles haematopoietic receptors
  JOURNAL   Nature 389 (6646), 96-100 (1997)
   PUBMED   9288975
  REMARK    Erratum:[Nature 1997 Nov 20;390(6657):315]
REFERENCE   8  (bases 1 to 1614)
  AUTHORS   Fry,A.M., Lanier,L.L. and Weiss,A.
  TITLE     Phosphotyrosines in the killer cell inhibitory receptor motif of
            NKB1 are required for negative signaling and for association with
            protein tyrosine phosphatase 1C
  JOURNAL   J Exp Med 184 (1), 295-300 (1996)
   PUBMED   8691146
REFERENCE   9  (bases 1 to 1614)
  AUTHORS   Wagtmann,N., Biassoni,R., Cantoni,C., Verdiani,S., Malnati,M.S.,
            Vitale,M., Bottino,C., Moretta,L., Moretta,A. and Long,E.O.
  TITLE     Molecular clones of the p58 NK cell receptor reveal
            immunoglobulin-related molecules with diversity in both the extra-
            and intracellular domains
  JOURNAL   Immunity 2 (5), 439-449 (1995)
   PUBMED   7749980
REFERENCE   10 (bases 1 to 1614)
  AUTHORS   Colonna,M. and Samaridis,J.
  TITLE     Cloning of immunoglobulin-superfamily members associated with HLA-C
            and HLA-B recognition by human natural killer cells
  JOURNAL   Science 268 (5209), 405-408 (1995)
   PUBMED   7716543
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC245128.3, AY366240.1,
            AY366237.1 and AC011501.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014218.2.
            
            Summary: Killer cell immunoglobulin-like receptors (KIRs) are
            transmembrane glycoproteins expressed by natural killer cells and
            subsets of T cells. The KIR genes are polymorphic and highly
            homologous and they are found in a cluster on chromosome 19q13.4
            within the 1 Mb leukocyte receptor complex (LRC). The gene content
            of the KIR gene cluster varies among haplotypes, although several
            'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1,
            KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of
            extracellular immunoglobulin domains (2D or 3D) and by whether they
            have a long (L) or short (S) cytoplasmic domain. KIR proteins with
            the long cytoplasmic domain transduce inhibitory signals upon
            ligand binding via an immune tyrosine-based inhibitory motif
            (ITIM), while KIR proteins with the short cytoplasmic domain lack
            the ITIM motif and instead associate with the TYRO protein tyrosine
            kinase binding protein to transduce activating signals. The ligands
            for several KIR proteins are subsets of HLA class I molecules;
            thus, KIR proteins are thought to play an important role in
            regulation of the immune response. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: L41267.1, U24076.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2163105 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000336077.11/ ENSP00000336769.5
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                AC245128.3         71417-71436
            21-201              AY366240.1         1-181
            202-1265            AY366237.1         180-1243
            1266-1614           AC011501.8         35139-35487
FEATURES             Location/Qualifiers
     source          1..1614
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..1614
                     /gene="KIR2DL1"
                     /gene_synonym="CD158A; KIR-K64; KIR221; KIR2DL3; NKAT;
                     NKAT-1; NKAT1; p58.1"
                     /note="killer cell immunoglobulin like receptor, two Ig
                     domains and long cytoplasmic tail 1"
                     /db_xref="GeneID:3802"
                     /db_xref="HGNC:HGNC:6329"
                     /db_xref="MIM:604936"
     exon            1..92
                     /gene="KIR2DL1"
                     /gene_synonym="CD158A; KIR-K64; KIR221; KIR2DL3; NKAT;
                     NKAT-1; NKAT1; p58.1"
                     /inference="alignment:Splign:2.1.0"
     CDS             59..1105
                     /gene="KIR2DL1"
                     /gene_synonym="CD158A; KIR-K64; KIR221; KIR2DL3; NKAT;
                     NKAT-1; NKAT1; p58.1"
                     /note="natural killer-associated transcript 1; killer cell
                     immunoglobulin-like receptor 2DL1; KIR2DL1/3DL2; KIR2DL
                     protein; p58 NK cell inhibitory receptor NKR-K6; killer
                     inhibitory receptor 2-2-1; p58 killer cell inhibitory
                     receptor KIR-K64; p58 NK receptor CL-42/47.11; MHC class I
                     NK cell receptor; CD158 antigen-like family member A;
                     p58.1 MHC class-I-specific NK receptor; p58 natural killer
                     cell receptor clones CL-42/47.11; killer cell
                     immunoglobulin-like receptor, two domains, long
                     cytoplasmic tail, 1"
                     /codon_start=1
                     /product="killer cell immunoglobulin-like receptor 2DL1
                     precursor"
                     /protein_id="NP_055033.2"
                     /db_xref="CCDS:CCDS12904.1"
                     /db_xref="GeneID:3802"
                     /db_xref="HGNC:HGNC:6329"
                     /db_xref="MIM:604936"
                     /translation="MSLLVVSMACVGFFLLQGAWPHEGVHRKPSLLAHPGRLVKSEET
                     VILQCWSDVMFEHFLLHREGMFNDTLRLIGEHHDGVSKANFSISRMTQDLAGTYRCYG
                     SVTHSPYQVSAPSDPLDIVIIGLYEKPSLSAQLGPTVLAGENVTLSCSSRSSYDMYHL
                     SREGEAHERRLPAGPKVNGTFQADFPLGPATHGGTYRCFGSFHDSPYEWSKSSDPLLV
                     SVTGNPSNSWPSPTEPSSKTGNPRHLHILIGTSVVIILFILLFFLLHRWCSNKKNAAV
                     MDQESAGNRTANSEDSDEQDPQEVTYTQLNHCVFTQRKITRPSQRPKTPPTDIIVYTE
                     LPNAESRSKVVSCP"
     exon            93..128
                     /gene="KIR2DL1"
                     /gene_synonym="CD158A; KIR-K64; KIR221; KIR2DL3; NKAT;
                     NKAT-1; NKAT1; p58.1"
                     /inference="alignment:Splign:2.1.0"
     exon            129..428
                     /gene="KIR2DL1"
                     /gene_synonym="CD158A; KIR-K64; KIR221; KIR2DL3; NKAT;
                     NKAT-1; NKAT1; p58.1"
                     /inference="alignment:Splign:2.1.0"
     exon            429..722
                     /gene="KIR2DL1"
                     /gene_synonym="CD158A; KIR-K64; KIR221; KIR2DL3; NKAT;
                     NKAT-1; NKAT1; p58.1"
                     /inference="alignment:Splign:2.1.0"
     exon            723..773
                     /gene="KIR2DL1"
                     /gene_synonym="CD158A; KIR-K64; KIR221; KIR2DL3; NKAT;
                     NKAT-1; NKAT1; p58.1"
                     /inference="alignment:Splign:2.1.0"
     exon            774..875
                     /gene="KIR2DL1"
                     /gene_synonym="CD158A; KIR-K64; KIR221; KIR2DL3; NKAT;
                     NKAT-1; NKAT1; p58.1"
                     /inference="alignment:Splign:2.1.0"
     exon            876..928
                     /gene="KIR2DL1"
                     /gene_synonym="CD158A; KIR-K64; KIR221; KIR2DL3; NKAT;
                     NKAT-1; NKAT1; p58.1"
                     /inference="alignment:Splign:2.1.0"
     exon            929..1614
                     /gene="KIR2DL1"
                     /gene_synonym="CD158A; KIR-K64; KIR221; KIR2DL3; NKAT;
                     NKAT-1; NKAT1; p58.1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1595..1600
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KIR2DL1"
                     /gene_synonym="CD158A; KIR-K64; KIR221; KIR2DL3; NKAT;
                     NKAT-1; NKAT1; p58.1"
                     /note="hexamer: AATAAA"
     polyA_site      1614
                     /gene="KIR2DL1"
                     /gene_synonym="CD158A; KIR-K64; KIR221; KIR2DL3; NKAT;
                     NKAT-1; NKAT1; p58.1"
                     /note="major polyA site"
ORIGIN      
        1 atcctgtgcg ctgctgagct gagctcggtc gcggctgcct gtctgctccg gcagcaccat
       61 gtcgctcttg gtcgtcagca tggcgtgtgt tgggttcttc ttgctgcagg gggcctggcc
      121 acatgaggga gtccacagaa aaccttccct cctggcccac ccaggtcgcc tggtgaaatc
      181 agaagagaca gtcatcctgc agtgttggtc agatgtcatg tttgaacact tccttctgca
      241 cagagagggg atgtttaacg acactttgcg cctcattgga gaacaccatg atggggtctc
      301 caaggccaac ttctccatca gtcgcatgac gcaagacctg gcagggacct acagatgcta
      361 cggttctgtt actcactccc cctatcaggt gtcagctccc agtgaccctc tggacatcgt
      421 gatcataggt ctatatgaga aaccttctct ctcagcccag ctgggcccca cggttctggc
      481 aggagagaat gtgaccttgt cctgcagctc ccggagctcc tatgacatgt accatctatc
      541 cagggaaggg gaggcccatg aacgtaggct ccctgcaggg cccaaggtca acggaacatt
      601 ccaggctgac tttcctctgg gccctgccac ccacggaggg acctacagat gcttcggctc
      661 tttccatgac tctccatacg agtggtcaaa gtcaagtgac ccactgcttg tttctgtcac
      721 aggaaaccct tcaaatagtt ggccttcacc cactgaacca agctccaaaa ccggtaaccc
      781 ccgacacctg cacattctga ttgggacctc agtggtcatc atcctcttca tcctcctctt
      841 ctttctcctt catcgctggt gctccaacaa aaaaaatgct gcggtaatgg accaagagtc
      901 tgcaggaaac agaacagcga atagcgagga ctctgatgaa caagaccctc aggaggtgac
      961 atacacacag ttgaatcact gcgttttcac acagagaaaa atcactcgcc cttctcagag
     1021 gcccaagaca cccccaacag atatcatcgt gtacacggaa cttccaaatg ctgagtccag
     1081 atccaaagtt gtctcctgcc catgagcacc acagtcaggc cttgagggcg tcttctaggg
     1141 agacaacagc cctgtctcaa aaccgggttg ccagctccca tgtaccagca gctggaatct
     1201 gaaggcgtga gtctgcatct tagggcatcg atcttcctca caccacaaat ctgaatgtgc
     1261 ctctctcttg cttacaaatg tctaaggtcc ccactgcctg ctggagaaaa aacacactcc
     1321 tttgcttaac ccacagttct ccatttcact tgacccctgc ccacctctcc aacctaactg
     1381 gcttacttcc tagtctactt gaggctgcaa tcacactgag gaactcacaa ttccaaacat
     1441 acaagaggct ccctcttaac gcagcactta gacacgtgtt gttccacctt ccctcatgct
     1501 gttccacctc ccctcagact agctttcagt cttctgtcag cagtaaaact tatatatttt
     1561 ttaaaataac ttcaatgtag ttttccatcc ttcaaataaa catgtctgcc ccca
//
