Reviewed, UniProtKB/Swiss-Prot Q96E93 (KLRG1_HUMAN)

Names and origin

Protein names

Recommended name:
    Killer cell lectin-like receptor subfamily G member 1
Alternative name(s):
    Mast cell function-associated antigen
    MAFA-like receptor
    ITIM-containing receptor MAFA-L
    C-type lectin domain family 15 member A

Gene names

Name:	KLRG1
Synonyms:	CLEC15A, MAFA, MAFAL

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	195 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Plays an inhibitory role on natural killer (NK) cells and T-cell functions upon binding to their ligands. Binds E-cadherin/CDH1, N-cadherin/CDH2 and R-cadherin/CDH4.
Subunit structure	Forms monomer and homodimer; disulfide-linked By similarity. Interacts (via ITIM motif) with PTPN11 and INPP5D By similarity.
Subcellular location	Membrane; Single-pass type II membrane protein By similarity.
Tissue specificity	Expressed specifically on natural killer (NK) cells and T-cells, mainly CD8 T-cells. Ref.2 Ref.5
Induction	By pathogens and viruses infections. Ref.5
Domain	Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. Upon phosphorylation of ITIM motif KLRG1 associates with the two phosphatases PTPN11 and INPP5D By similarity.
Sequence similarities	Contains 1 C-type lectin domain.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal-anchor Transmembrane
Ligand	Lectin
Molecular function	Receptor
PTM	Disulfide bond Glycoprotein Phosphoprotein
Gene Ontology (GO)
Biological process	cell surface receptor linked signal transduction Ref.2 Traceable author statement. Source: ProtInc cellular defense response Ref.2 Traceable author statement. Source: ProtInc inflammatory response Ref.2 Traceable author statement. Source: ProtInc
Cellular component	integral to membrane Ref.2 Traceable author statement. Source: ProtInc
Molecular function	receptor activity Ref.1 Traceable author statement. Source: ProtInc sugar binding Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96E93-1)

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: Q96E93-2)

The sequence of this isoform differs from the canonical sequence as follows:
     187-195: CPFADQALF → VRL

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 195	195	Killer cell lectin-like receptor subfamily G member 1		PRO_0000331256
Regions
	Topological domain	1 – 38	38	Cytoplasmic Potential
	Transmembrane	39 – 59	21	Signal-anchor for type II membrane protein Potential
	Topological domain	60 – 195	136	Extracellular Potential
	Domain	82 – 185	104	C-type lectin
	Motif	5 – 10	6	ITIM motif
	Compositional bias	28 – 31	4	Poly-Ser
Amino acid modifications
	Glycosylation	65	1	N-linked (GlcNAc...) Potential
	Glycosylation	97	1	N-linked (GlcNAc...) Potential
	Glycosylation	137	1	N-linked (GlcNAc...) Potential
	Glycosylation	150	1	N-linked (GlcNAc...) Potential
	Disulfide bond	103 ↔ 184		By similarity
	Disulfide bond	163 ↔ 176		By similarity
Natural variations
	Alternative sequence	187 – 195	9	CPFADQALF → VRL in isoform 2.		VSP_033151
	Natural variant	58	1	W → R: dbSNP rs1805749.		VAR_042750
Experimental info
	Sequence conflict	32	1	R → K in AAC34731. Ref.1
	Sequence conflict	42	1	A → T in AAC34731. Ref.1
	Sequence conflict	182	1	W → G in AAC34731. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 178EE98E08EEC473	FASTA	195	21,831
	10 20 30 40 50 60 MTDSVIYSML ELPTATQAQN DYGPQQKSSS SRPSCSCLVA IALGLLTAVL LSVLLYQWIL 70 80 90 100 110 120 CQGSNYSTCA SCPSCPDRWM KYGNHCYYFS VEEKDWNSSL EFCLARDSHL LVITDNQEMS 130 140 150 160 170 180 LLQVFLSEAF CWIGLRNNSG WRWEDGSPLN FSRISSNSFV QTCGAINKNG LQASSCEVPL 190 HWVCKKCPFA DQALF
	Isoform 2. Checksum: FA9023F1523656A8	FASTA	189	21,206
	10 20 30 40 50 60 MTDSVIYSML ELPTATQAQN DYGPQQKSSS SRPSCSCLVA IALGLLTAVL LSVLLYQWIL 70 80 90 100 110 120 CQGSNYSTCA SCPSCPDRWM KYGNHCYYFS VEEKDWNSSL EFCLARDSHL LVITDNQEMS 130 140 150 160 170 180 LLQVFLSEAF CWIGLRNNSG WRWEDGSPLN FSRISSNSFV QTCGAINKNG LQASSCEVPL HWVCKKVRL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human MAFA has alternatively spliced variants." Lamers M.B.A.C., Lamont A.G., Williams D.H. Biochim. Biophys. Acta 1399:209-212(1998) [PubMed: 9765598] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[2]	"MAFA-L, an ITIM-containing receptor encoded by the human NK cell gene complex and expressed by basophils and NK cells." Butcher S., Arney K.L., Cook G.P. Eur. J. Immunol. 28:3755-3762(1998) [PubMed: 9842918] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Bone marrow.
[5]	"Expression of killer cell lectin-like receptor G1 on antigen-specific human CD8+ T lymphocytes during active, latent, and resolved infection and its relation with CD57." Ibegbu C.C., Xu Y.X., Harris W., Maggio D., Miller J.D., Kourtis A.P. J. Immunol. 174:6088-6094(2005) [PubMed: 15879103] [Abstract] Cited for: TISSUE SPECIFICITY, INDUCTION BY VIRUSES AND PATHOGENS INFECTIONS.
[6]	"Tumor-associated E-cadherin mutations affect binding to the killer cell lectin-like receptor G1 in humans." Schwartzkopff S., Gruendemann C., Schweier O., Rosshart S., Karjalainen K.E., Becker K.-F., Pircher H. J. Immunol. 179:1022-1029(2007) [PubMed: 17617594] [Abstract] Cited for: LIGAND-BINDING.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF034952 mRNA. Translation: AAC34731.1. AF081675 mRNA. Translation: AAC32200.1. AF097358 mRNA. Translation: AAD03719.1. CH471116 Genomic DNA. Translation: EAW88594.1. CH471116 Genomic DNA. Translation: EAW88595.1. BC012621 mRNA. Translation: AAH12621.1.
IPI	IPI00153018. IPI00478141.
RefSeq	NP_005801.3.
UniGene	Hs.558446
3D structure databases
HSSP	HSSP built from PDB template 1B6E based on UniProtKB Q13241.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96E93. 1 interaction.
Proteomic databases
PRIDE	Q96E93.
Genome annotation databases
Ensembl	ENSG00000139187. Homo sapiens. [Contig view]
GeneID	10219.
KEGG	hsa:10219.
Organism-specific databases
GeneCards	GC12P009033.
HGNC	HGNC:6380. KLRG1.
MIM	604874. gene.
PharmGKB	PA30170.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q96E93.
HOVERGEN	Q96E93.
OMA	Q96E93. TCASCPS.
Enzyme and pathway databases
Reactome	REACT_6900. Signaling in Immune system.
Gene expression databases
ArrayExpress	Q96E93.
Bgee	Q96E93.
CleanEx	HS_KLRG1. HS_MAFA.
Family and domain databases
InterPro	IPR001304. C-type_lectin. IPR016186. C-type_lectin-like. IPR018378. C-type_lectin_CS. [Graphical view]
Gene3D	G3DSA:3.10.100.10. C-type_lectin-like. 1 hit.
Pfam	PF00059. Lectin_C. 1 hit. [Graphical view]
SMART	SM00034. CLECT. 1 hit. [Graphical view]
PROSITE	PS00615. C_TYPE_LECTIN_1. False negative. PS50041. C_TYPE_LECTIN_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	38696.
SOURCE	Search...

Entry information

Entry name

KLRG1_HUMAN

Accession

Primary (citable) accession number: Q96E93
Secondary accession number(s): O43198, O75613

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 29, 2008
Last sequence update:	December 1, 2001
Last modified:	June 16, 2009
This is version 49 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)