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2025-05-09 16:56:24, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_002258 740 bp mRNA linear PRI 02-JUN-2013
DEFINITION Homo sapiens killer cell lectin-like receptor subfamily B, member 1
(KLRB1), mRNA.
ACCESSION NM_002258
VERSION NM_002258.2 GI:58761538
KEYWORDS RefSeq.
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 740)
AUTHORS Pesenacker,A.M., Bending,D., Ursu,S., Wu,Q., Nistala,K. and
Wedderburn,L.R.
TITLE CD161 defines the subset of FoxP3+ T cells capable of producing
proinflammatory cytokines
JOURNAL Blood 121 (14), 2647-2658 (2013)
PUBMED 23355538
REMARK GeneRIF: Here we present a distinct population of Treg, defined by
CD161 expression, as the major source of FoxP3+ Treg-derived
proinflammatory cytokines.
REFERENCE 2 (bases 1 to 740)
AUTHORS Schirmer,L., Rothhammer,V., Hemmer,B. and Korn,T.
TITLE Enriched CD161high CCR6+ gammadelta T cells in the cerebrospinal
fluid of patients with multiple sclerosis
JOURNAL JAMA Neurol 70 (3), 345-351 (2013)
PUBMED 23599932
REMARK GeneRIF: The fraction of CD161high T cells is significantly higher
in cerebrospinal fluid of patients with multiple sclerosis in
relapse than those of controls.
REFERENCE 3 (bases 1 to 740)
AUTHORS Samson,M., Audia,S., Fraszczak,J., Trad,M., Ornetti,P., Lakomy,D.,
Ciudad,M., Leguy,V., Berthier,S., Vinit,J., Manckoundia,P.,
Maillefert,J.F., Besancenot,J.F., Aho-Glele,S., Olsson,N.O.,
Lorcerie,B., Guillevin,L., Mouthon,L., Saas,P., Bateman,A.,
Martin,L., Janikashvili,N., Larmonier,N. and Bonnotte,B.
TITLE Th1 and Th17 lymphocytes expressing CD161 are implicated in giant
cell arteritis and polymyalgia rheumatica pathogenesis
JOURNAL Arthritis Rheum. 64 (11), 3788-3798 (2012)
PUBMED 22833233
REMARK GeneRIF: CD161+CD4+ T lymphocytes, differentiated into Th1 cells
and Th17 cells, are involved in the pathogenesis of giant cell
arteritis and polymyalgia rheumatica.
REFERENCE 4 (bases 1 to 740)
AUTHORS Germain,C., Meier,A., Jensen,T., Knapnougel,P., Poupon,G.,
Lazzari,A., Neisig,A., Hakansson,K., Dong,T., Wagtmann,N.,
Galsgaard,E.D., Spee,P. and Braud,V.M.
TITLE Induction of lectin-like transcript 1 (LLT1) protein cell surface
expression by pathogens and interferon-gamma contributes to
modulate immune responses
JOURNAL J. Biol. Chem. 286 (44), 37964-37975 (2011)
PUBMED 21930700
REMARK GeneRIF: LLT1 and CD161 have roles in modulating immune responses
to pathogens; and interferon-gamma contributes to modulate immune
responses
REFERENCE 5 (bases 1 to 740)
AUTHORS Mjosberg,J.M., Trifari,S., Crellin,N.K., Peters,C.P., van
Drunen,C.M., Piet,B., Fokkens,W.J., Cupedo,T. and Spits,H.
TITLE Human IL-25- and IL-33-responsive type 2 innate lymphoid cells are
defined by expression of CRTH2 and CD161
JOURNAL Nat. Immunol. 12 (11), 1055-1062 (2011)
PUBMED 21909091
REMARK GeneRIF: expression defines IL-25- and IL-33-responsive type 2
innate lymphoid cells
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 740)
AUTHORS Poggi,A., Rubartelli,A., Moretta,L. and Zocchi,M.R.
TITLE Expression and function of NKRP1A molecule on human monocytes and
dendritic cells
JOURNAL Eur. J. Immunol. 27 (11), 2965-2970 (1997)
PUBMED 9394825
REFERENCE 7 (bases 1 to 740)
AUTHORS Poggi,A., Costa,P., Zocchi,M.R. and Moretta,L.
TITLE Phenotypic and functional analysis of CD4+ NKRP1A+ human T
lymphocytes. Direct evidence that the NKRP1A molecule is involved
in transendothelial migration
JOURNAL Eur. J. Immunol. 27 (9), 2345-2350 (1997)
PUBMED 9341779
REFERENCE 8 (bases 1 to 740)
AUTHORS Renedo,M., Arce,I., Rodriguez,A., Carretero,M., Lanier,L.L.,
Lopez-Botet,M. and Fernandez-Ruiz,E.
TITLE The human natural killer gene complex is located on chromosome
12p12-p13
JOURNAL Immunogenetics 46 (4), 307-311 (1997)
PUBMED 9218532
REFERENCE 9 (bases 1 to 740)
AUTHORS Poggi,A., Costa,P., Morelli,L., Cantoni,C., Pella,N., Spada,F.,
Biassoni,R., Nanni,L., Revello,V., Tomasello,E., Mingari,M.C.,
Moretta,A. and Moretta,L.
TITLE Expression of human NKRP1A by CD34+ immature thymocytes:
NKRP1A-mediated regulation of proliferation and cytolytic activity
JOURNAL Eur. J. Immunol. 26 (6), 1266-1272 (1996)
PUBMED 8647203
REFERENCE 10 (bases 1 to 740)
AUTHORS Lanier,L.L., Chang,C. and Phillips,J.H.
TITLE Human NKR-P1A. A disulfide-linked homodimer of the C-type lectin
superfamily expressed by a subset of NK and T lymphocytes
JOURNAL J. Immunol. 153 (6), 2417-2428 (1994)
PUBMED 8077657
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BF432813.1 and U11276.1.
On Feb 8, 2005 this sequence version replaced gi:4504878.
Summary: Natural killer (NK) cells are lymphocytes that mediate
cytotoxicity and secrete cytokines after immune stimulation.
Several genes of the C-type lectin superfamily, including the
rodent NKRP1 family of glycoproteins, are expressed by NK cells and
may be involved in the regulation of NK cell function. The KLRB1
protein contains an extracellular domain with several motifs
characteristic of C-type lectins, a transmembrane domain, and a
cytoplasmic domain. The KLRB1 protein is classified as a type II
membrane protein because it has an external C terminus. [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 :: U11276.1, AK292022.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025083 [ECO:0000350]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-6 BF432813.1 2-7
7-740 U11276.1 5-738
FEATURES Location/Qualifiers
source 1..740
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12p13"
gene 1..740
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/note="killer cell lectin-like receptor subfamily B,
member 1"
/db_xref="GeneID:3820"
/db_xref="HGNC:6373"
/db_xref="HPRD:04201"
/db_xref="MIM:602890"
exon 1..147
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/inference="alignment:Splign:1.39.8"
STS 13..740
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/db_xref="UniSTS:489719"
variation complement(14)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="c"
/replace="g"
/db_xref="dbSNP:371674424"
misc_feature 39..41
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/note="upstream in-frame stop codon"
variation complement(46)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace=""
/replace="a"
/db_xref="dbSNP:34694858"
CDS 63..740
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/note="C-type lectin domain family 5 member B; natural
killer cell surface protein P1A"
/codon_start=1
/product="killer cell lectin-like receptor subfamily B
member 1"
/protein_id="NP_002249.1"
/db_xref="GI:4504879"
/db_xref="CCDS:CCDS8601.1"
/db_xref="GeneID:3820"
/db_xref="HGNC:6373"
/db_xref="HPRD:04201"
/db_xref="MIM:602890"
/translation="
MDQQAIYAELNLPTDSGPESSSPSSLPRDVCQGSPWHQFALKLSCAGIILLVLVVTGLSVSVTSLIQKSSIEKCSVDIQQSRNKTTERPGLLNCPIYWQQLREKCLLFSHTVNPWNNSLADCSTKESSLLLIRDKDELIHTQNLIRDKAILFWIGLNFSLSEKNWKWINGSFLNSNDLEIRGDAKENSCISISQTSVYSEYCSTEIRWICQKELTPVRNKVYPDS
"
misc_feature 198..260
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q12918.1);
transmembrane region"
misc_feature 342..698
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/note="C-type lectin-like domain (CTLD) of the type found
in natural killer cell receptors (NKRs); Region:
CLECT_NK_receptors_like; cd03593"
/db_xref="CDD:153063"
misc_feature order(513..515,597..599,648..650,654..659)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/note="ligand binding surface [chemical binding]; other
site"
/db_xref="CDD:153063"
variation complement(83)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="c"
/replace="t"
/db_xref="dbSNP:375339427"
variation complement(117)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="a"
/replace="g"
/db_xref="dbSNP:144231382"
variation complement(118)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="a"
/replace="c"
/db_xref="dbSNP:374663582"
variation complement(124)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="c"
/replace="t"
/db_xref="dbSNP:201764859"
exon 148..246
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/inference="alignment:Splign:1.39.8"
variation complement(148)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="a"
/replace="g"
/db_xref="dbSNP:199501569"
variation complement(154)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="g"
/replace="t"
/db_xref="dbSNP:139525269"
variation complement(164)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="a"
/replace="c"
/db_xref="dbSNP:200584129"
variation complement(170)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="a"
/replace="g"
/db_xref="dbSNP:376673125"
variation complement(206)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="g"
/replace="t"
/db_xref="dbSNP:200576922"
exon 247..321
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/inference="alignment:Splign:1.39.8"
variation complement(260)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="a"
/replace="g"
/db_xref="dbSNP:149244748"
variation complement(262)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="a"
/replace="g"
/db_xref="dbSNP:142063673"
variation complement(282)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="c"
/replace="t"
/db_xref="dbSNP:372327595"
variation complement(296)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="c"
/replace="t"
/db_xref="dbSNP:148761043"
exon 322..476
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/inference="alignment:Splign:1.39.8"
variation complement(340)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="a"
/replace="g"
/db_xref="dbSNP:144354266"
variation complement(350)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="a"
/replace="t"
/db_xref="dbSNP:200532656"
variation complement(359)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="a"
/replace="g"
/db_xref="dbSNP:367849252"
variation complement(369)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="a"
/replace="g"
/db_xref="dbSNP:141057839"
variation complement(400)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="a"
/replace="g"
/db_xref="dbSNP:138352143"
variation complement(444)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="a"
/replace="g"
/db_xref="dbSNP:34919993"
variation complement(445)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="c"
/replace="g"
/db_xref="dbSNP:373666093"
variation complement(470)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="c"
/replace="t"
/db_xref="dbSNP:143372540"
exon 477..592
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/inference="alignment:Splign:1.39.8"
variation complement(478)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="g"
/replace="t"
/db_xref="dbSNP:137930946"
variation complement(499)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="a"
/replace="g"
/db_xref="dbSNP:146949020"
variation complement(509)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="a"
/replace="g"
/db_xref="dbSNP:80165137"
variation complement(565)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="c"
/replace="t"
/db_xref="dbSNP:1135816"
variation complement(569)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="c"
/replace="t"
/db_xref="dbSNP:34291189"
exon 593..740
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/inference="alignment:Splign:1.39.8"
variation complement(642)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="a"
/replace="c"
/db_xref="dbSNP:368637659"
variation complement(682)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="c"
/replace="g"
/db_xref="dbSNP:368537511"
variation complement(703)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="g"
/replace="t"
/db_xref="dbSNP:371875963"
variation complement(705)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="a"
/replace="t"
/db_xref="dbSNP:369315470"
variation complement(715)
/gene="KLRB1"
/gene_synonym="CD161; CLEC5B; hNKR-P1A; NKR; NKR-P1;
NKR-P1A; NKRP1A"
/replace="g"
/replace="t"
/db_xref="dbSNP:367658071"
ORIGIN
gcctcacagaattgagagtttgttcttacacacaagtttaatgccaccttcctctgtctgccatggaccaacaagcaatatatgctgagttaaacttacccacagactcaggcccagaaagttcttcaccttcatctcttcctcgggatgtctgtcagggttcaccttggcatcaatttgccctgaaacttagctgtgctgggattattctccttgtcttggttgttactgggttgagtgtttcagtgacatccttaatacagaaatcatcaatagaaaaatgcagtgtggacattcaacagagcaggaataaaacaacagagagaccgggtctcttaaactgcccaatatattggcagcaactccgagagaaatgcttgttattttctcacactgtcaacccttggaataacagtctagctgattgttccaccaaagaatccagcctgctgcttattcgagataaggatgaattgatacacacacagaacctgatacgtgacaaagcaattctgttttggattggattaaatttttcattatcagaaaagaactggaagtggataaacggctcttttttaaattctaatgacttagaaattagaggtgatgctaaagaaaacagctgtatttccatctcacagacatctgtgtattctgagtactgtagtacagaaatcagatggatctgccaaaaagaactaacacctgtgagaaataaagtgtatcctgactcttga
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:3820 -> Molecular function: GO:0004888 [transmembrane signaling receptor activity] evidence: TAS
GeneID:3820 -> Molecular function: GO:0030246 [carbohydrate binding] evidence: IEA
GeneID:3820 -> Biological process: GO:0007166 [cell surface receptor signaling pathway] evidence: TAS
GeneID:3820 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
GeneID:3820 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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