KLRB1 (killer cell lectin like receptor B1) - Rat Genome Database

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Gene: KLRB1 (killer cell lectin like receptor B1) Homo sapiens
Analyze
Symbol: KLRB1
Name: killer cell lectin like receptor B1
RGD ID: 1343225
HGNC Page HGNC:6373
Description: Predicted to enable signaling receptor activity. Predicted to be involved in regulation of natural killer cell mediated cytotoxicity. Predicted to be located in membrane. Predicted to be active in cell surface and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C-type lectin domain family 5 member B; CD161; CLEC5B; hNKR-P1A; killer cell lectin-like receptor subfamily B member 1; killer cell lectin-like receptor subfamily B, member 1; MGC138614; natural killer cell surface protein P1A; NKR; NKR-P1; NKR-P1A; NKRP1A
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38129,594,551 - 9,607,916 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl129,594,551 - 9,607,916 (-)EnsemblGRCh38hg38GRCh38
GRCh37129,747,147 - 9,760,512 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36129,639,137 - 9,651,764 (-)NCBINCBI36Build 36hg18NCBI36
Build 34129,639,137 - 9,651,764NCBI
Celera1214,909,231 - 14,921,909 (-)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef129,490,635 - 9,503,276 (-)NCBIHuRef
CHM1_1129,716,848 - 9,729,496 (-)NCBICHM1_1
T2T-CHM13v2.0129,480,754 - 9,494,170 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
COVID-19  (HEP)
genetic disease  (IAGP)
melanoma  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cell surface  (IBA,IEA)
membrane  (IEA)
plasma membrane  (IBA,IEA,TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:8077657   PMID:8647203   PMID:9218532   PMID:9341779   PMID:9394825   PMID:9603467   PMID:10229828   PMID:10458753   PMID:12100027   PMID:12477932   PMID:12858173   PMID:14990792  
PMID:15489334   PMID:16339512   PMID:16339513   PMID:16455998   PMID:16925668   PMID:18159636   PMID:18219672   PMID:18453569   PMID:18550855   PMID:18663128   PMID:19273624   PMID:19506219  
PMID:19711124   PMID:19834503   PMID:20133607   PMID:20237496   PMID:20359956   PMID:20486123   PMID:20800424   PMID:21570678   PMID:21572041   PMID:21610746   PMID:21873635   PMID:21909091  
PMID:21930700   PMID:22833233   PMID:23355538   PMID:23599932   PMID:24392804   PMID:24975965   PMID:25172498   PMID:25437561   PMID:25543092   PMID:25906076   PMID:26059452   PMID:26062995  
PMID:26220166   PMID:26309225   PMID:26590595   PMID:26643453   PMID:26829983   PMID:27626681   PMID:27821506   PMID:28757467   PMID:29111570   PMID:29212911   PMID:29686665   PMID:31002602  
PMID:31017304   PMID:31145102   PMID:31305900   PMID:32159362   PMID:32416673   PMID:33368526   PMID:33592174   PMID:33961781   PMID:34305920   PMID:34881489   PMID:35185935   PMID:35611672  
PMID:36633583   PMID:37287972   PMID:37551093   PMID:37988189   PMID:38502058  


Genomics

Comparative Map Data
KLRB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38129,594,551 - 9,607,916 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl129,594,551 - 9,607,916 (-)EnsemblGRCh38hg38GRCh38
GRCh37129,747,147 - 9,760,512 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36129,639,137 - 9,651,764 (-)NCBINCBI36Build 36hg18NCBI36
Build 34129,639,137 - 9,651,764NCBI
Celera1214,909,231 - 14,921,909 (-)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef129,490,635 - 9,503,276 (-)NCBIHuRef
CHM1_1129,716,848 - 9,729,496 (-)NCBICHM1_1
T2T-CHM13v2.0129,480,754 - 9,494,170 (-)NCBIT2T-CHM13v2.0
Klrb1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396128,586,190 - 128,599,897 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6128,586,190 - 128,600,496 (-)EnsemblGRCm39 Ensembl
GRCm386128,609,227 - 128,622,934 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6128,609,227 - 128,623,533 (-)EnsemblGRCm38mm10GRCm38
MGSCv376128,559,245 - 128,572,952 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366128,574,846 - 128,588,444 (-)NCBIMGSCv36mm8
Celera6130,286,421 - 130,300,140 (-)NCBICelera
Cytogenetic Map6F3NCBI
cM Map663.06NCBI
Klrb1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84163,576,672 - 163,590,201 (-)NCBIGRCr8
mRatBN7.24161,890,577 - 161,904,050 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4161,890,577 - 161,961,675 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4168,125,617 - 168,139,099 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04163,908,558 - 163,922,040 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04162,542,599 - 162,556,083 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04161,950,270 - 161,966,582 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4161,949,817 - 162,025,187 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04227,150,602 - 227,167,004 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44165,637,478 - 165,654,188 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera4150,591,734 - 150,605,311 (-)NCBICelera
Cytogenetic Map4q42NCBI
KLRB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21015,087,022 - 15,098,951 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11215,083,781 - 15,095,710 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0129,644,078 - 9,656,303 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1129,892,986 - 9,905,255 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl129,892,986 - 9,905,255 (-)Ensemblpanpan1.1panPan2
KLRB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12736,355,917 - 36,376,172 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2736,355,986 - 36,376,501 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2710,241,214 - 10,263,747 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02736,707,314 - 36,729,874 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2736,707,374 - 36,729,870 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12736,606,421 - 36,612,015 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02736,617,769 - 36,640,369 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0279,773,520 - 9,788,771 (-)NCBIUU_Cfam_GSD_1.0
Klrb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494597,686,207 - 97,697,367 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004937004204,731 - 215,891 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KLRB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl562,244,713 - 62,257,694 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1562,244,787 - 62,257,691 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2565,081,320 - 65,094,181 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KLRB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1119,471,914 - 9,516,338 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl119,481,275 - 9,494,310 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660891,550,332 - 1,563,208 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in KLRB1
15 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.31(chr12:9484719-9667557)x1 copy number loss See cases [RCV000139673] Chr12:9484719..9667557 [GRCh38]
Chr12:9637315..9820153 [GRCh37]
Chr12:9528582..9711420 [NCBI36]
Chr12:12p13.31		 likely benign
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2		 pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.31(chr12:9664352-9799126)x1 copy number loss not provided [RCV000737768] Chr12:9664352..9799126 [GRCh37]
Chr12:12p13.31		 benign
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_002258.3(KLRB1):c.275T>C (p.Leu92Ser) single nucleotide variant Inborn genetic diseases [RCV003249300] Chr12:9598638 [GRCh38]
Chr12:9751234 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_002258.3(KLRB1):c.85+8G>A single nucleotide variant not provided [RCV000913662] Chr12:9607747 [GRCh38]
Chr12:9760343 [GRCh37]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NM_002258.3(KLRB1):c.92G>T (p.Cys31Phe) single nucleotide variant Inborn genetic diseases [RCV002952105] Chr12:9601593 [GRCh38]
Chr12:9754189 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_002258.3(KLRB1):c.74C>A (p.Ser25Tyr) single nucleotide variant Inborn genetic diseases [RCV002693900] Chr12:9607766 [GRCh38]
Chr12:9760362 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_002258.3(KLRB1):c.200A>G (p.Gln67Arg) single nucleotide variant Inborn genetic diseases [RCV002758803] Chr12:9599826 [GRCh38]
Chr12:9752422 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_002258.3(KLRB1):c.641T>G (p.Leu214Arg) single nucleotide variant Inborn genetic diseases [RCV002826212] Chr12:9595311 [GRCh38]
Chr12:9747907 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_002258.3(KLRB1):c.300A>C (p.Gln100His) single nucleotide variant Inborn genetic diseases [RCV003220782] Chr12:9598613 [GRCh38]
Chr12:9751209 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_002258.3(KLRB1):c.73T>C (p.Ser25Pro) single nucleotide variant Inborn genetic diseases [RCV003174633] Chr12:9607767 [GRCh38]
Chr12:9760363 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_002258.3(KLRB1):c.118G>T (p.Ala40Ser) single nucleotide variant Inborn genetic diseases [RCV003185164] Chr12:9601567 [GRCh38]
Chr12:9754163 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_002258.3(KLRB1):c.461T>C (p.Ile154Thr) single nucleotide variant Inborn genetic diseases [RCV003209543] Chr12:9598115 [GRCh38]
Chr12:9750711 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_002258.3(KLRB1):c.209C>T (p.Ser70Leu) single nucleotide variant Inborn genetic diseases [RCV003354677] Chr12:9599817 [GRCh38]
Chr12:9752413 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_002258.3(KLRB1):c.174G>T (p.Leu58Phe) single nucleotide variant Inborn genetic diseases [RCV003352015] Chr12:9601511 [GRCh38]
Chr12:9754107 [GRCh37]
Chr12:12p13.31		 uncertain significance
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_002258.3(KLRB1):c.73T>A (p.Ser25Thr) single nucleotide variant not provided [RCV003396208] Chr12:9607767 [GRCh38]
Chr12:9760363 [GRCh37]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:228
Count of miRNA genes:212
Interacting mature miRNAs:216
Transcripts:ENST00000229402
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
WI-14040  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37129,752,459 - 9,752,558UniSTSGRCh37
Build 36129,643,726 - 9,643,825RGDNCBI36
Celera1214,913,823 - 14,913,922RGD
Cytogenetic Map12p13UniSTS
HuRef129,495,227 - 9,495,326UniSTS
GeneMap99-GB4 RH Map1257.79UniSTS
Whitehead-RH Map12110.2UniSTS
NCBI RH Map12157.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 192 497 71 50 909 51 11 1 1 69 44 335 79 4
Low 1458 1436 1280 488 554 373 1978 458 1046 264 987 1071 116 1082 1023 1
Below cutoff 700 976 351 77 200 29 2098 1518 2309 55 362 97 51 42 1557 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000229402   ⟹   ENSP00000229402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl129,594,551 - 9,607,916 (-)Ensembl
RefSeq Acc Id: NM_002258   ⟹   NP_002249
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,594,551 - 9,607,916 (-)NCBI
GRCh37129,747,870 - 9,760,497 (-)ENTREZGENE
Build 36129,639,137 - 9,651,764 (-)NCBI Archive
HuRef129,490,635 - 9,503,276 (-)ENTREZGENE
CHM1_1129,716,848 - 9,729,496 (-)NCBI
T2T-CHM13v2.0129,480,754 - 9,494,170 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_002249 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA21605 (Get FASTA)   NCBI Sequence Viewer  
  AAI13998 (Get FASTA)   NCBI Sequence Viewer  
  AAI14517 (Get FASTA)   NCBI Sequence Viewer  
  BAF84711 (Get FASTA)   NCBI Sequence Viewer  
  EAW96108 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000229402
  ENSP00000229402.3
GenBank Protein Q12918 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_002249   ⟸   NM_002258
- UniProtKB: Q24K24 (UniProtKB/Swiss-Prot),   Q12918 (UniProtKB/Swiss-Prot),   A8K7K7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000229402   ⟸   ENST00000229402
Protein Domains
C-type lectin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q12918-F1-model_v2 AlphaFold Q12918 1-225 view protein structure

Promoters
RGD ID:7223115
Promoter ID:EPDNEW_H17304
Type:multiple initiation site
Name:KLRB1_1
Description:killer cell lectin like receptor B1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,607,915 - 9,607,975EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6373 AgrOrtholog
COSMIC KLRB1 COSMIC
Ensembl Genes ENSG00000111796 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000229402 ENTREZGENE
  ENST00000229402.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.100.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000111796 GTEx
HGNC ID HGNC:6373 ENTREZGENE
Human Proteome Map KLRB1 Human Proteome Map
InterPro C-type_lectin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C-type_lectin-like/link_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CTDL_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NKR-like_CTLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3820 UniProtKB/Swiss-Prot
NCBI Gene 3820 ENTREZGENE
OMIM 602890 OMIM
PANTHER KILLER CELL LECTIN-LIKE RECEPTOR SUBFAMILY B MEMBER 1 UniProtKB/Swiss-Prot
  KILLER CELL LECTIN-LIKE RECEPTOR SUBFAMILY B MEMBER 1 UniProtKB/Swiss-Prot
  KILLER CELL LECTIN-LIKE RECEPTOR SUBFAMILY B MEMBER 1 UniProtKB/TrEMBL
  KILLER CELL LECTIN-LIKE RECEPTOR SUBFAMILY B MEMBER 1 UniProtKB/TrEMBL
Pfam Lectin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30162 PharmGKB
PROSITE C_TYPE_LECTIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CLECT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP C-type lectin-like UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A8K7K7 ENTREZGENE, UniProtKB/TrEMBL
  KLRB1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q24K24 ENTREZGENE
UniProt Secondary Q24K24 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 KLRB1  killer cell lectin like receptor B1  KLRB1  killer cell lectin-like receptor subfamily B, member 1  Symbol and/or name change 5135510 APPROVED