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KLRC1 killer cell lectin like receptor C1 [ Homo sapiens (human) ]

Gene ID: 3821, updated on 8-Oct-2019

Summary

Official Symbol
KLRC1provided by HGNC
Official Full Name
killer cell lectin like receptor C1provided by HGNC
Primary source
HGNC:HGNC:6374
See related
Ensembl:ENSG00000134545 MIM:161555
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NKG2; NKG2A; CD159A
Summary
Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jan 2015]
Expression
Broad expression in spleen (RPKM 1.5), endometrium (RPKM 1.3) and 21 other tissues See more
Orthologs

Genomic context

See KLRC1 in Genome Data Viewer
Location:
12p13.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (10441673..10454685, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (10594863..10607215, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene killer cell lectin like receptor C3 Neighboring gene killer cell lectin like receptor C2 Neighboring gene uncharacterized LOC105369657 Neighboring gene eukaryotic translation initiation factor 2 subunit gamma B Neighboring gene uncharacterized LOC105369658

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC13374, MGC59791

Gene Ontology Provided by GOA

Function Evidence Code Pubs
MHC class I protein complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
NOT protein antigen binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
regulation of immune response TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
NKG2-A/NKG2-B type II integral membrane protein
Names
C-lectin type II protein
CD159 antigen-like family member A
NK cell receptor A
NKG2-1/B activating NK receptor
NKG2-A/B type II integral membrane protein
NKG2-A/B-activating NK receptor
killer cell lectin-like receptor subfamily C, member 1
natural killer cell lectin
natural killer group protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001304448.1NP_001291377.1  NKG2-A/NKG2-B type II integral membrane protein isoform C

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has alternate 5' and 3' terminal sequences, compared to variant 1. The resulting isoform (C) is C-terminal truncated, compared to isoform NKG2-A.
    Source sequence(s)
    AC068775, AK310992
    Consensus CDS
    CCDS76531.1
    Related
    ENSP00000441432.1, ENST00000536188.5
    Conserved Domains (1) summary
    cd03593
    Location:119228
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
  2. NM_002259.5NP_002250.2  NKG2-A/NKG2-B type II integral membrane protein isoform NKG2-A

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (NKG2-A). Variants 1 and 3 encode the same isoform (NKG2-A).
    Source sequence(s)
    AC068775
    Consensus CDS
    CCDS8625.1
    Related
    ENSP00000352064.3, ENST00000359151.7
  3. NM_007328.4NP_015567.2  NKG2-A/NKG2-B type II integral membrane protein isoform NKG2-B

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. The resulting isoform (NKG2-B) is shorter compared to isoform NKG2-A. Variants 2 and 4 encode the same isoform (NKG-2B).
    Source sequence(s)
    AC068775
    Consensus CDS
    CCDS8626.1
    Related
    ENSP00000256965.7, ENST00000347831.9
  4. NM_213657.2NP_998822.1  NKG2-A/NKG2-B type II integral membrane protein isoform NKG2-B

    See identical proteins and their annotated locations for NP_998822.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks an in-frame coding exon compared to variant 1. The resulting isoform (NKG2-B) is shorter compared to isoform NKG2-A. Variants 2 and 4 encode the same isoform (NKG2-B).
    Source sequence(s)
    AC068775, BC012550, BC053840
    Consensus CDS
    CCDS8626.1
    UniProtKB/Swiss-Prot
    P26715
    Related
    ENSP00000385304.3, ENST00000408006.7
    Conserved Domains (1) summary
    cd03593
    Location:101213
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
  5. NM_213658.2NP_998823.1  NKG2-A/NKG2-B type II integral membrane protein isoform NKG2-A

    See identical proteins and their annotated locations for NP_998823.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (NKG2-A).
    Source sequence(s)
    AC068775, BC012550, BC053840
    Consensus CDS
    CCDS8625.1
    UniProtKB/Swiss-Prot
    P26715
    Related
    ENSP00000438038.1, ENST00000544822.2
    Conserved Domains (1) summary
    cd03593
    Location:119231
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    10441673..10454685 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448973.1XP_024304741.1  NKG2-A/NKG2-B type II integral membrane protein isoform X1

    Conserved Domains (1) summary
    cd03593
    Location:119228
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
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