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Protein

Killer cell immunoglobulin-like receptor 2DL1

Gene

KIR2DL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis.1 Publication

GO - Molecular functioni

  1. receptor activity Source: ProtInc

GO - Biological processi

  1. immune response Source: ProtInc
  2. natural killer cell inhibitory signaling pathway Source: UniProtKB
  3. regulation of immune response Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Enzyme and pathway databases

ReactomeiREACT_11152. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.

Names & Taxonomyi

Protein namesi
Recommended name:
Killer cell immunoglobulin-like receptor 2DL1
Alternative name(s):
CD158 antigen-like family member A
MHC class I NK cell receptor
Natural killer-associated transcript 1
Short name:
NKAT-1
p58 natural killer cell receptor clones CL-42/47.11
Short name:
p58 NK receptor CL-42/47.11
p58.1 MHC class-I-specific NK receptor
CD_antigen: CD158a
Gene namesi
Name:KIR2DL1
Synonyms:CD158A, NKAT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componentsi: Chromosome 19, Unplaced

Organism-specific databases

HGNCiHGNC:6329. KIR2DL1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 245224ExtracellularSequence AnalysisAdd
BLAST
Transmembranei246 – 26419HelicalSequence AnalysisAdd
BLAST
Topological domaini265 – 34884CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: ProtInc
  2. plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi302 – 3021Y → A: Abolishes interaction with ARRB2; when associated with A-332. Diminishes interaction with ARRB2. 1 Publication
Mutagenesisi332 – 3321Y → A: Abolishes interaction with ARRB2; when associated with A-302. 1 Publication

Organism-specific databases

PharmGKBiPA30114.

Polymorphism and mutation databases

BioMutaiKIR2DL1.
DMDMi1171726.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 21211 PublicationAdd
BLAST
Chaini22 – 348327Killer cell immunoglobulin-like receptor 2DL1PRO_0000015078Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi49 ↔ 100
Glycosylationi67 – 671N-linked (GlcNAc...)Sequence Analysis
Glycosylationi84 – 841N-linked (GlcNAc...)Sequence Analysis
Glycosylationi144 – 1441N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi149 ↔ 198
Glycosylationi178 – 1781N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP43626.
PRIDEiP43626.

PTM databases

PhosphoSiteiP43626.

Expressioni

Gene expression databases

CleanExiHS_KIR2DL1.
ExpressionAtlasiP43626. baseline.
GenevestigatoriP43626.

Interactioni

Subunit structurei

Interacts with ARRB2. Interacts with PTPN6; the interaction is enhanced by ARRB2. Interacts with PTPN11; the interaction is enhanced by ARRB2.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
PTPN6P293504EBI-8684277,EBI-78260

Protein-protein interaction databases

BioGridi110003. 1 interaction.
IntActiP43626. 3 interactions.
MINTiMINT-8013645.
STRINGi9606.ENSP00000336769.

Structurei

Secondary structure

1
348
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi30 – 356Combined sources
Beta strandi37 – 404Combined sources
Beta strandi45 – 539Combined sources
Beta strandi56 – 6611Combined sources
Beta strandi68 – 736Combined sources
Beta strandi75 – 773Combined sources
Beta strandi80 – 8910Combined sources
Helixi92 – 943Combined sources
Beta strandi96 – 1049Combined sources
Beta strandi118 – 1236Combined sources
Beta strandi130 – 1356Combined sources
Beta strandi137 – 1404Combined sources
Beta strandi144 – 15310Combined sources
Beta strandi156 – 1627Combined sources
Beta strandi169 – 1724Combined sources
Beta strandi174 – 1774Combined sources
Beta strandi180 – 18910Combined sources
Beta strandi194 – 2029Combined sources
Beta strandi205 – 2095Combined sources
Beta strandi216 – 2216Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1IM9X-ray2.80D22-245[»]
1NKRX-ray1.70A22-221[»]
ProteinModelPortaliP43626.
SMRiP43626. Positions 27-259.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP43626.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini42 – 10766Ig-like C2-type 1Add
BLAST
Domaini142 – 20564Ig-like C2-type 2Add
BLAST

Sequence similaritiesi

Belongs to the immunoglobulin superfamily.Curated

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG82473.
HOGENOMiHOG000234396.
HOVERGENiHBG074353.
InParanoidiP43626.
KOiK07981.
OrthoDBiEOG7H792J.
PhylomeDBiP43626.
TreeFamiTF352669.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR013151. Immunoglobulin.
[Graphical view]
PfamiPF00047. ig. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P43626-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSLLVVSMAC VGFFLLQGAW PHEGVHRKPS LLAHPGPLVK SEETVILQCW
60 70 80 90 100
SDVMFEHFLL HREGMFNDTL RLIGEHHDGV SKANFSISRM TQDLAGTYRC
110 120 130 140 150
YGSVTHSPYQ VSAPSDPLDI VIIGLYEKPS LSAQPGPTVL AGENVTLSCS
160 170 180 190 200
SRSSYDMYHL SREGEAHERR LPAGPKVNGT FQADFPLGPA THGGTYRCFG
210 220 230 240 250
SFHDSPYEWS KSSDPLLVSV TGNPSNSWPS PTEPSSKTGN PRHLHILIGT
260 270 280 290 300
SVVIILFILL FFLLHRWCSN KKNAAVMDQE SAGNRTANSE DSDEQDPQEV
310 320 330 340
TYTQLNHCVF TQRKITRPSQ RPKTPPTDII VYTELPNAES RSKVVSCP
Length:348
Mass (Da):38,505
Last modified:November 1, 1995 - v1
Checksum:i3DFBF2D6FDCE1D1E
GO
Isoform 2 (identifier: P43626-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     238-239: TG → TERMFHHVGQACLKLPTSSDPTVSACQS

Note: No experimental confirmation available.

Show »
Length:374
Mass (Da):41,360
Checksum:i80C18B19F3A5B394
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51V → F.1 Publication
Corresponds to variant rs2304224 [ dbSNP | Ensembl ].
VAR_003949
Natural varianti9 – 91A → V.
Corresponds to variant rs3810343 [ dbSNP | Ensembl ].
VAR_061332
Natural varianti37 – 371P → R.1 Publication
Corresponds to variant rs35509911 [ dbSNP | Ensembl ].
VAR_003950
Natural varianti66 – 661F → Y.
Corresponds to variant rs673568 [ dbSNP | Ensembl ].
VAR_056091
Natural varianti111 – 1111V → L.
Corresponds to variant rs687885 [ dbSNP | Ensembl ].
VAR_061333
Natural varianti135 – 1351P → L.1 Publication
VAR_003951
Natural varianti175 – 1751P → T.
VAR_010331
Natural varianti184 – 1841D → N.
VAR_010332
Natural varianti203 – 2031H → R.
VAR_010333
Natural varianti237 – 2371K → E.
VAR_010334
Natural varianti266 – 2661R → C.
VAR_010335

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei238 – 2392TG → TERMFHHVGQACLKLPTSSD PTVSACQS in isoform 2. 1 PublicationVSP_056314

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L41267 mRNA. Translation: AAA69868.1.
U24076 mRNA. Translation: AAC50335.1.
U24078 mRNA. Translation: AAC50337.1.
AF022045 mRNA. Translation: AAB95318.1.
AY789055 mRNA. Translation: AAX23100.1.
AC011501 Genomic DNA. No translation available.
BC069344 mRNA. Translation: AAH69344.1.
CCDSiCCDS12904.1. [P43626-1]
PIRiA56247.
RefSeqiNP_055033.2. NM_014218.2.
UniGeneiHs.654605.
Hs.690615.

Genome annotation databases

EnsembliENST00000291633; ENSP00000291633; ENSG00000125498.
ENST00000611611; ENSP00000478232; ENSG00000278738.
ENST00000615920; ENSP00000482120; ENSG00000273794.
ENST00000617376; ENSP00000484559; ENSG00000278821.
ENST00000618563; ENSP00000484361; ENSG00000276625.
ENST00000620449; ENSP00000478263; ENSG00000277833.
ENST00000622463; ENSP00000479363; ENSG00000278495.
GeneIDi3802.
KEGGihsa:3802.
UCSCiuc010erz.1. human.

Polymorphism and mutation databases

BioMutaiKIR2DL1.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L41267 mRNA. Translation: AAA69868.1.
U24076 mRNA. Translation: AAC50335.1.
U24078 mRNA. Translation: AAC50337.1.
AF022045 mRNA. Translation: AAB95318.1.
AY789055 mRNA. Translation: AAX23100.1.
AC011501 Genomic DNA. No translation available.
BC069344 mRNA. Translation: AAH69344.1.
CCDSiCCDS12904.1. [P43626-1]
PIRiA56247.
RefSeqiNP_055033.2. NM_014218.2.
UniGeneiHs.654605.
Hs.690615.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1IM9X-ray2.80D22-245[»]
1NKRX-ray1.70A22-221[»]
ProteinModelPortaliP43626.
SMRiP43626. Positions 27-259.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110003. 1 interaction.
IntActiP43626. 3 interactions.
MINTiMINT-8013645.
STRINGi9606.ENSP00000336769.

PTM databases

PhosphoSiteiP43626.

Polymorphism and mutation databases

BioMutaiKIR2DL1.
DMDMi1171726.

Proteomic databases

PaxDbiP43626.
PRIDEiP43626.

Protocols and materials databases

DNASUi3802.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000291633; ENSP00000291633; ENSG00000125498.
ENST00000611611; ENSP00000478232; ENSG00000278738.
ENST00000615920; ENSP00000482120; ENSG00000273794.
ENST00000617376; ENSP00000484559; ENSG00000278821.
ENST00000618563; ENSP00000484361; ENSG00000276625.
ENST00000620449; ENSP00000478263; ENSG00000277833.
ENST00000622463; ENSP00000479363; ENSG00000278495.
GeneIDi3802.
KEGGihsa:3802.
UCSCiuc010erz.1. human.

Organism-specific databases

CTDi3802.
GeneCardsiGC19P055283.
HGNCiHGNC:6329. KIR2DL1.
MIMi604936. gene.
neXtProtiNX_P43626.
PharmGKBiPA30114.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG82473.
HOGENOMiHOG000234396.
HOVERGENiHBG074353.
InParanoidiP43626.
KOiK07981.
OrthoDBiEOG7H792J.
PhylomeDBiP43626.
TreeFamiTF352669.

Enzyme and pathway databases

ReactomeiREACT_11152. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.

Miscellaneous databases

EvolutionaryTraceiP43626.
GeneWikiiKIR2DL1.
GenomeRNAii3802.
NextBioi14935.
PROiP43626.
SOURCEiSearch...

Gene expression databases

CleanExiHS_KIR2DL1.
ExpressionAtlasiP43626. baseline.
GenevestigatoriP43626.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR013151. Immunoglobulin.
[Graphical view]
PfamiPF00047. ig. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of immunoglobulin-superfamily members associated with HLA-C and HLA-B recognition by human natural killer cells."
    Colonna M., Samaridis J.
    Science 268:405-408(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Natural killer cell.
  2. "Molecular clones of the p58 NK cell receptor reveal immunoglobulin-related molecules with diversity in both the extra- and intracellular domains."
    Wagtmann N., Biassoni R., Cantoni C., Verdiani S., Malnati M.S., Vitale M., Bottino C., Moretta L., Moretta A., Long E.O.
    Immunity 2:439-449(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 22-45.
    Tissue: Natural killer cell.
  3. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS.
  4. "Variants of KIR identified in Japanese donors."
    Yawata N., Yawata M., Parham P.
    Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT PHE-5.
  5. "The DNA sequence and biology of human chromosome 19."
    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.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS ARG-37 AND LEU-135.
  7. "An essential function for beta-arrestin 2 in the inhibitory signaling of natural killer cells."
    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.
    Nat. Immunol. 9:898-907(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH ARRB2; PTPN6 AND PTPN11, MUTAGENESIS OF TYR-302 AND TYR-332.
  8. "Structure of the inhibitory receptor for human natural killer cells resembles haematopoietic receptors."
    Fan Q.R., Mosyak L., Winter C.C., Wagtmann N., Long E.O., Wiley D.C.
    Nature 389:96-100(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 27-221.

Entry informationi

Entry nameiKI2L1_HUMAN
AccessioniPrimary (citable) accession number: P43626
Secondary accession number(s): O43470, Q32WE6, Q6IST4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 1, 1995
Last modified: April 29, 2015
This is version 144 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.