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Q99706 (KI2L4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 143. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Killer cell immunoglobulin-like receptor 2DL4
Alternative name(s):
CD158 antigen-like family member D
G9P
Killer cell inhibitory receptor 103AS
Short name=KIR-103AS
MHC class I NK cell receptor KIR103AS
CD_antigen=CD158d
Gene names
Name:KIR2DL4
Synonyms:CD158D, KIR103AS
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length377 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Interacts with ARRB2. Ref.9

Subcellular location

Cell membrane; Single-pass type I membrane protein.

Sequence similarities

Belongs to the immunoglobulin superfamily.

Contains 2 Ig-like C2-type (immunoglobulin-like) domains.

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q99706-1)

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.
Isoform 2 (identifier: Q99706-2)

Also known as: AST;

The sequence of this isoform differs from the canonical sequence as follows:
     219-235: Missing.
Isoform 3 (identifier: Q99706-3)

Also known as: AS;

The sequence of this isoform differs from the canonical sequence as follows:
     236-270: Missing.
Isoform 4 (identifier: Q99706-4)

Also known as: ASD1;

The sequence of this isoform differs from the canonical sequence as follows:
     219-235: Missing.
     236-270: Missing.
Isoform 5 (identifier: Q99706-5)

Also known as: ASD2;

The sequence of this isoform differs from the canonical sequence as follows:
     219-235: Missing.
     236-270: Missing.
     271-288: Missing.
Isoform 6 (identifier: Q99706-6)

The sequence of this isoform differs from the canonical sequence as follows:
     27-121: Missing.
     219-235: Missing.
     236-270: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 By similarity
Chain22 – 377356Killer cell immunoglobulin-like receptor 2DL4
PRO_0000015081

Regions

Topological domain22 – 242221Extracellular Potential
Transmembrane243 – 26321Helical; Potential
Topological domain264 – 377114Cytoplasmic Potential
Domain44 – 10461Ig-like C2-type 1
Domain139 – 20264Ig-like C2-type 2

Amino acid modifications

Glycosylation1411N-linked (GlcNAc...) Potential
Glycosylation1751N-linked (GlcNAc...) Potential
Disulfide bond51 ↔ 97 By similarity
Disulfide bond146 ↔ 195 By similarity

Natural variations

Alternative sequence27 – 12195Missing in isoform 6.
VSP_002608
Alternative sequence219 – 23517Missing in isoform 2, isoform 4, isoform 5 and isoform 6.
VSP_002609
Alternative sequence236 – 27035Missing in isoform 3, isoform 4, isoform 5 and isoform 6.
VSP_002610
Alternative sequence271 – 28818Missing in isoform 5.
VSP_002611
Natural variant531Y → C. Ref.2 Ref.5 Ref.7
Corresponds to variant rs618835 [ dbSNP | Ensembl ].
VAR_010307
Natural variant871V → L. Ref.1 Ref.3 Ref.4
Corresponds to variant rs1057767 [ dbSNP | Ensembl ].
VAR_010308
Natural variant1381A → T. Ref.1 Ref.2 Ref.3 Ref.4 Ref.6
Corresponds to variant rs1051454 [ dbSNP | Ensembl ].
VAR_010309
Natural variant2091P → A. Ref.1 Ref.2 Ref.3 Ref.4 Ref.6
Corresponds to variant rs1051456 [ dbSNP | Ensembl ].
VAR_010310
Natural variant271 – 2733DAA → MLL in allele KIR2DL4*0501.
VAR_064649
Natural variant2711D → N. Ref.2 Ref.4 Ref.6 Ref.7
VAR_010311
Natural variant274 – 377104Missing in allele KIR2DL4*0501.
VAR_065101
Natural variant3711N → H. Ref.1 Ref.2 Ref.3 Ref.4
Corresponds to variant rs1051460 [ dbSNP | Ensembl ].
VAR_010312

Experimental info

Sequence conflict471V → A in ABW73961. Ref.5
Sequence conflict2291T → P in AAD24763. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 8, 2011. Version 3.
Checksum: 888B3297332D6C59

FASTA37741,487
        10         20         30         40         50         60 
MSMSPTVIIL ACLGFFLDQS VWAHVGGQDK PFCSAWPSAV VPQGGHVTLR CHYRRGFNIF 

        70         80         90        100        110        120 
TLYKKDGVPV PELYNRIFWN SFLISPVTPA HAGTYRCRGF HPHSPTEWSA PSNPLVIMVT 

       130        140        150        160        170        180 
GLYEKPSLTA RPGPTVRAGE NVTLSCSSQS SFDIYHLSRE GEAHELRLPA VPSINGTFQA 

       190        200        210        220        230        240 
DFPLGPATHG ETYRCFGSFH GSPYEWSDPS DPLPVSVTGN PSSSWPSPTE PSFKTGIARH 

       250        260        270        280        290        300 
LHAVIRYSVA IILFTILPFF LLHRWCSKKK DAAVMNQEPA GHRTVNREDS DEQDPQEVTY 

       310        320        330        340        350        360 
AQLDHCIFTQ RKITGPSQRS KRPSTDTSVC IELPNAEPRA LSPAHEHHSQ ALMGSSRETT 

       370 
ALSQTQLASS NVPAAGI 

« Hide

Isoform 2 (AST) [UniParc].

Checksum: A7E18C6F0DDBD526
Show »

FASTA36039,699
Isoform 3 (AS) [UniParc].

Checksum: 963B74BC0E5C7B64
Show »

FASTA34237,356
Isoform 4 (ASD1) [UniParc].

Checksum: A07C525E18C55C79
Show »

FASTA32535,568
Isoform 5 (ASD2) [UniParc].

Checksum: 360E7C2058E1788E
Show »

FASTA30733,591
Isoform 6 [UniParc].

Checksum: 0FCFE3EE13BACBB7
Show »

FASTA23024,917

References

« Hide 'large scale' references
[1]"NK cell receptor gene of the KIR family with two IG domains but highest homology to KIR receptors with three IG domains."
Selvakumar A., Steffens U., Dupont B.
Tissue Antigens 48:285-294(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS LEU-87; THR-138; ALA-209 AND HIS-371.
[2]"Functionally and structurally distinct NK cell receptor repertoires in the peripheral blood of two human donors."
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.
Immunity 7:739-751(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS CYS-53; THR-138; ALA-209; ASN-271 AND HIS-371.
[3]"Polymorphism and domain variability of human killer cell inhibitory receptors."
Selvakumar A., Steffens U., Dupont B.
Immunol. Rev. 155:183-196(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS LEU-87; THR-138; ALA-209 AND HIS-371.
[4]"Genomic organization and allelic polymorphism of the human killer cell inhibitory receptor gene KIR103."
Selvakumar A., Steffens U., Palanisamy N., Chaganti R.S.K., Dupont B.
Tissue Antigens 49:564-573(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 3; 4 AND 5), VARIANTS LEU-87; THR-138; ALA-209; ASN-271 AND HIS-371.
[5]"The elucidation of KIR2DL4 gene polymorphism."
Schellekens J., Tilanus M.G., Rozemuller E.H.
Mol. Immunol. 45:1900-1906(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE KIR2DL4*0501), VARIANT CYS-53.
[6]Biassoni R.
Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 6), VARIANTS THR-138; ALA-209 AND ASN-271.
Tissue: Lymphoid tissue.
[7]"Exon deletion contributes to structural diversity of 2DL4 killer inhibitory receptors."
Chan H.W., Salter R.D.
Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CYS-53 AND ASN-271.
[8]"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. expand/collapse author list , 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].
[9]"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: INTERACTION WITH ARRB2.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U71199 mRNA. Translation: AAB49756.1.
AF034771 mRNA. Translation: AAB95164.1.
AF034772 mRNA. Translation: AAB95165.1.
AF034773 mRNA. Translation: AAB95166.1.
U73394 mRNA. Translation: AAC51146.1.
AF003123 expand/collapse EMBL AC list , AF003116, AF003117, AF003118, AF003119, AF003121, AF003122, AF003120 Genomic DNA. Translation: AAB61926.1.
AF002979 mRNA. Translation: AAB71387.1.
AF002980 mRNA. Translation: AAB71388.1.
AF002981 mRNA. Translation: AAB71389.1.
AF002982 mRNA. Translation: AAB71390.1.
EU194342 mRNA. Translation: ABW73961.1.
X97229 mRNA. Translation: CAA65868.1.
X99479 mRNA. Translation: CAA67842.1.
X99480 mRNA. Translation: CAA67843.1.
X99481 mRNA. Translation: CAA67844.1.
AF110035 expand/collapse EMBL AC list , AF110032, AF110033, AF110034 Genomic DNA. Translation: AAD24763.1.
AC011501 Genomic DNA. No translation available.
AL133414 Genomic DNA. Translation: CAC40708.1.
CCDSCCDS42619.1. [Q99706-3]
RefSeqNP_001074239.1. NM_001080770.1. [Q99706-3]
NP_002246.5. NM_002255.5.
UniGeneHs.661219.
Hs.743945.

3D structure databases

ProteinModelPortalQ99706.
SMRQ99706. Positions 30-218.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110006. 3 interactions.

PTM databases

PhosphoSiteQ99706.

Polymorphism databases

DMDM325511396.

Proteomic databases

PaxDbQ99706.
PRIDEQ99706.

Protocols and materials databases

DNASU3805.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000345540; ENSP00000339634; ENSG00000189013. [Q99706-3]
ENST00000357494; ENSP00000350088; ENSG00000189013. [Q99706-4]
ENST00000396293; ENSP00000379588; ENSG00000189013. [Q99706-6]
ENST00000604047; ENSP00000475014; ENSG00000271713. [Q99706-6]
ENST00000604327; ENSP00000474377; ENSG00000271713. [Q99706-3]
ENST00000605092; ENSP00000474171; ENSG00000271713. [Q99706-4]
GeneID3805.
KEGGhsa:3805.
UCSCuc002qhf.4. human. [Q99706-6]
uc002qhg.4. human. [Q99706-3]
uc002qhi.4. human. [Q99706-2]
uc002qhj.4. human. [Q99706-4]
uc010esd.4. human. [Q99706-1]

Organism-specific databases

CTD3805.
GeneCardsGC19P055272.
HGNCHGNC:6332. KIR2DL4.
MIM604945. gene.
neXtProtNX_Q99706.
PharmGKBPA30117.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG25862.
HOVERGENHBG074353.
KOK07981.
OrthoDBEOG7H792J.
TreeFamTF352669.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.

Gene expression databases

ArrayExpressQ99706.
BgeeQ99706.
GenevestigatorQ99706.

Family and domain databases

Gene3D2.60.40.10. 2 hits.
InterProIPR013783. Ig-like_fold.
IPR003599. Ig_sub.
[Graphical view]
SMARTSM00409. IG. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiKIR2DL4.
GenomeRNAi3805.
NextBio14949.
PROQ99706.
SOURCESearch...

Entry information

Entry nameKI2L4_HUMAN
AccessionPrimary (citable) accession number: Q99706
Secondary accession number(s): A8W795 expand/collapse secondary AC list , O14621, O14622, O14623, O14624, O43534, P78400, P78401, Q8N738, Q99559, Q99560, Q99561, Q99562, Q9UQJ7
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: March 8, 2011
Last modified: July 9, 2014
This is version 143 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM

Human cell differentiation molecules

CD nomenclature of surface proteins of human leucocytes and list of entries