KLK1 (kallikrein 1) - Rat Genome Database

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Gene: KLK1 (kallikrein 1) Homo sapiens
Analyze
Symbol: KLK1
Name: kallikrein 1
RGD ID: 1349866
HGNC Page HGNC:6357
Description: Predicted to enable serine-type endopeptidase activity. Predicted to be involved in regulation of systemic arterial blood pressure and zymogen activation. Located in nucleus. Implicated in cardiomyopathy; chronic kidney disease; end stage renal disease; hypertension; and myocardial infarction.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: glandular kallikrein 1; hK1; kallikrein 1, renal/pancreas/salivary; kallikrein serine protease 1; kallikrein-1; kidney/pancreas/salivary gland kallikrein; Klk6; KLKR; tissue kallikrein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: KLKP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381950,819,146 - 50,823,787 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1950,819,146 - 50,823,787 (-)EnsemblGRCh38hg38GRCh38
GRCh371951,322,402 - 51,327,043 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361956,014,216 - 56,018,855 (-)NCBINCBI36Build 36hg18NCBI36
Build 341956,014,215 - 56,018,855NCBI
Celera1948,373,507 - 48,378,146 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1947,656,911 - 47,662,085 (-)NCBIHuRef
CHM1_11951,324,194 - 51,328,835 (-)NCBICHM1_1
T2T-CHM13v2.01953,908,789 - 53,913,431 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3-chloropropane-1,2-diol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nitroaniline  (EXP)
acrylamide  (ISO)
all-trans-retinoic acid  (ISO)
aluminium atom  (EXP)
aluminium(0)  (EXP)
amiloride  (ISO)
ammonium chloride  (ISO)
aniline  (EXP)
benzamidine  (EXP)
benzo[a]pyrene  (EXP)
Benzo[ghi]perylene  (ISO)
bisphenol A  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
calcium atom  (EXP)
calcium(0)  (EXP)
candesartan  (ISO)
carbon nanotube  (EXP,ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cortisol  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (ISO)
dextran sulfate  (ISO)
diclofenac  (ISO)
dobutamine  (EXP)
epoxiconazole  (ISO)
ethyl methanesulfonate  (EXP)
flavonoids  (ISO)
folic acid  (ISO)
fructose  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glyphosate  (ISO)
hydrochlorothiazide  (ISO)
icatibant  (ISO)
imidacloprid  (ISO)
Indeno[1,2,3-cd]pyrene  (ISO)
iron(2+) sulfate (anhydrous)  (EXP)
iron(III) citrate  (EXP)
ketoconazole  (ISO)
magnesium atom  (EXP)
methotrexate  (ISO)
methyl methanesulfonate  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N-nitrosourea  (ISO)
nitric oxide  (ISO)
pentanal  (EXP)
pirinixic acid  (ISO)
potassium atom  (EXP)
propanal  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
S-allylcysteine  (ISO)
Se-methyl-L-selenocysteine  (ISO)
Se-methylselenocysteine  (ISO)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
sodium atom  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
tetrachloromethane  (ISO)
thalidomide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
troglitazone  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Early activation of bradykinin B2 receptor aggravates reactive oxygen species generation and renal damage in ischemia/reperfusion injury. Chiang WC, etal., Free Radic Biol Med. 2006 Oct 15;41(8):1304-14. Epub 2006 Jul 15.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Mechanism of kinin release during experimental acute pancreatitis in rats: evidence for pro- as well as anti-inflammatory roles of oedema formation. Griesbacher T, etal., Br J Pharmacol. 2003 May;139(2):299-308.
4. Relationship between the regulatory region polymorphism of human tissue kallikrein gene and essential hypertension. Hua H, etal., J Hum Hypertens. 2005 Sep;19(9):715-21.
5. Klk1 as one of the genes contributing to hypertension in Dahl salt-sensitive rat. Iwai N, etal., Hypertension 2005 May;45(5):947-53. Epub 2005 Apr 4.
6. Genetic analysis of 22 candidate genes for hypertension in the Japanese population. Iwai N, etal., J Hypertens. 2004 Jun;22(6):1119-26.
7. Cardiac function and remodeling is attenuated in transgenic rats expressing the human kallikrein-1 gene after myocardial infarction. Koch M, etal., Eur J Pharmacol. 2006 Nov 21;550(1-3):143-8. Epub 2006 Sep 7.
8. Significance of the tissue kallikrein promoter and transforming growth factor-beta1 polymorphisms with renal progression in children with vesicoureteral reflux. Lee-Chen GJ, etal., Kidney Int. 2004 Apr;65(4):1467-72.
9. Tissue kallikrein protects against pressure overload-induced cardiac hypertrophy through kinin B2 receptor and glycogen synthase kinase-3beta activation. Li HJ, etal., Cardiovasc Res. 2007 Jan 1;73(1):130-42. Epub 2006 Oct 27.
10. The kallikrein-kinin system: current and future pharmacological targets. Moreau ME, etal., J Pharmacol Sci. 2005 Sep;99(1):6-38.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. Role of the bradykinin B2 receptor for the local and systemic inflammatory response that follows severe reperfusion injury. Souza DG, etal., Br J Pharmacol. 2003 May;139(1):129-39.
14. Prevention of cardiac fibrosis and left ventricular dysfunction in diabetic cardiomyopathy in rats by transgenic expression of the human tissue kallikrein gene. Tschope C, etal., FASEB J. 2004 May;18(7):828-35.
15. Myocardial expression of rat bradykinin receptors and two tissue kallikrein genes in experimental diabetes. Tschope C, etal., Immunopharmacology. 1999 Oct 15;44(1-2):35-42.
16. Association of the tissue kallikrein gene promoter with ESRD and hypertension. Yu H, etal., Kidney Int. 2002 Mar;61(3):1030-9.
17. Tissue kallikrein reverses insulin resistance and attenuates nephropathy in diabetic rats by activation of phosphatidylinositol 3-kinase/protein kinase B and adenosine 5'-monophosphate-activated protein kinase signaling pathways. Yuan G, etal., Endocrinology. 2007 May;148(5):2016-26. Epub 2007 Feb 1.
Additional References at PubMed
PMID:393608   PMID:1385301   PMID:1684954   PMID:1691151   PMID:1783409   PMID:2666327   PMID:2686621   PMID:2898948   PMID:3004571   PMID:3163150   PMID:3635530   PMID:3643793  
PMID:3853975   PMID:7492318   PMID:7733886   PMID:7749372   PMID:7749374   PMID:7916636   PMID:9276160   PMID:9368023   PMID:9857240   PMID:10862973   PMID:11006094   PMID:11016932  
PMID:11054574   PMID:11130770   PMID:11258672   PMID:11727832   PMID:11912256   PMID:11913965   PMID:12372819   PMID:12477932   PMID:12492488   PMID:12581867   PMID:12670744   PMID:12887060  
PMID:14660481   PMID:14988406   PMID:15342556   PMID:15364809   PMID:15489334   PMID:15544850   PMID:15611141   PMID:15651049   PMID:15662224   PMID:15765151   PMID:15855348   PMID:16129698  
PMID:16465461   PMID:16800723   PMID:16800724   PMID:16957554   PMID:17050061   PMID:17158887   PMID:17671125   PMID:17699431   PMID:17761919   PMID:17762646   PMID:17804733   PMID:18182238  
PMID:18283336   PMID:18327081   PMID:18344018   PMID:18359858   PMID:18402547   PMID:18577888   PMID:18627303   PMID:18689794   PMID:18713009   PMID:18725990   PMID:18844446   PMID:19056867  
PMID:19082699   PMID:19232384   PMID:19423540   PMID:19558318   PMID:19578768   PMID:19913121   PMID:20143645   PMID:20225398   PMID:20406964   PMID:20424135   PMID:20438785   PMID:20482314  
PMID:20516044   PMID:20533273   PMID:20536386   PMID:20613781   PMID:20628086   PMID:21164105   PMID:21200088   PMID:21211543   PMID:21571276   PMID:21679467   PMID:21823154   PMID:21873635  
PMID:23376485   PMID:23635481   PMID:23697984   PMID:23765970   PMID:23874198   PMID:24005896   PMID:24530396   PMID:24586431   PMID:24599937   PMID:24626253   PMID:25100328   PMID:25448306  
PMID:26677174   PMID:26884824   PMID:27329205   PMID:27618014   PMID:27858843   PMID:28322037   PMID:28621557   PMID:30618416   PMID:30801944   PMID:30908937   PMID:31873176   PMID:33355364  
PMID:33397811   PMID:33961781  


Genomics

Comparative Map Data
KLK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381950,819,146 - 50,823,787 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1950,819,146 - 50,823,787 (-)EnsemblGRCh38hg38GRCh38
GRCh371951,322,402 - 51,327,043 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361956,014,216 - 56,018,855 (-)NCBINCBI36Build 36hg18NCBI36
Build 341956,014,215 - 56,018,855NCBI
Celera1948,373,507 - 48,378,146 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1947,656,911 - 47,662,085 (-)NCBIHuRef
CHM1_11951,324,194 - 51,328,835 (-)NCBICHM1_1
T2T-CHM13v2.01953,908,789 - 53,913,431 (-)NCBIT2T-CHM13v2.0
Klk1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39743,874,784 - 43,879,046 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl743,874,784 - 43,879,042 (+)EnsemblGRCm39 Ensembl
GRCm38744,225,360 - 44,229,622 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl744,225,360 - 44,229,618 (+)EnsemblGRCm38mm10GRCm38
MGSCv37751,480,807 - 51,484,987 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36744,093,479 - 44,097,659 (+)NCBIMGSCv36mm8
Celera739,683,707 - 39,687,887 (+)NCBICelera
Cytogenetic Map7B3NCBI
cM Map728.74NCBI
Klk1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81103,779,152 - 103,783,270 (+)NCBIGRCr8
mRatBN7.2194,642,644 - 94,646,760 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl194,642,687 - 94,646,754 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1100,028,087 - 100,032,085 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01108,500,727 - 108,504,721 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01101,791,341 - 101,795,329 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01100,131,562 - 100,135,556 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1100,059,967 - 100,203,329 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl199,362,304 - 99,373,304 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1100,047,235 - 100,058,235 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01101,196,673 - 101,200,667 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4194,624,828 - 94,628,822NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera188,909,593 - 88,913,587 (+)NCBICelera
RH 3.4 Map1 RGD
Cytogenetic Map1q22NCBI
Klk1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955559456,932 - 465,704 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955559457,030 - 461,086 (+)NCBIChiLan1.0ChiLan1.0
KLK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22056,887,494 - 56,892,097 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11958,807,986 - 58,812,589 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01947,784,368 - 47,789,004 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11956,677,579 - 56,682,216 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1956,677,579 - 56,682,216 (-)Ensemblpanpan1.1panPan2
KLK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11106,009,125 - 106,028,331 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1105,963,564 - 106,028,331 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1105,598,741 - 105,603,026 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01106,536,071 - 106,540,357 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1106,520,716 - 106,540,357 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11106,208,615 - 106,212,897 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01105,850,090 - 105,854,369 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01106,690,688 - 106,694,973 (+)NCBIUU_Cfam_GSD_1.0
Klk1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934922,658,123 - 22,661,971 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936889534,161 - 537,913 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936889534,127 - 537,913 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KLK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl655,570,635 - 55,576,636 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1655,570,632 - 55,576,398 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2651,469,507 - 51,475,249 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KLK1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1643,867,629 - 43,873,364 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl643,867,596 - 43,872,178 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607323,888,895 - 23,894,581 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Klk1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248323,868,465 - 3,873,290 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248323,869,255 - 3,873,350 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KLK1
15 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002257.4(KLK1):c.230G>A (p.Arg77His) single nucleotide variant Kallikrein, decreased urinary activity of [RCV000015766] Chr19:50820420 [GRCh38]
Chr19:51323676 [GRCh37]
Chr19:19q13.33		 pathogenic|affects
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 copy number gain See cases [RCV000050883] Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 copy number gain See cases [RCV000135843] Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 copy number gain See cases [RCV000445925] Chr19:50489390..59095359 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_002257.4(KLK1):c.382G>A (p.Glu128Lys) single nucleotide variant Inborn genetic diseases [RCV003257151] Chr19:50820268 [GRCh38]
Chr19:51323524 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 copy number gain not provided [RCV000740208] Chr19:50740074..59097160 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
NM_002257.4(KLK1):c.567C>T (p.His189=) single nucleotide variant not provided [RCV000879220] Chr19:50819965 [GRCh38]
Chr19:51323221 [GRCh37]
Chr19:19q13.33		 benign|likely benign
GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3 copy number gain not provided [RCV000847250] Chr19:49600909..51366070 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3 copy number gain not provided [RCV001007055] Chr19:50469730..51916485 [GRCh37]
Chr19:19q13.33-13.41		 uncertain significance
NM_002257.4(KLK1):c.24C>T (p.Leu8=) single nucleotide variant not provided [RCV000982776] Chr19:50823725 [GRCh38]
Chr19:51326981 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) copy number gain not specified [RCV002052689] Chr19:49911081..53127438 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NC_000019.9:g.(?_50887648)_(51364623_?)dup duplication Colorectal cancer, susceptibility to, 10 [RCV001916525] Chr19:50887648..51364623 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002257.4(KLK1):c.119C>T (p.Ala40Val) single nucleotide variant Inborn genetic diseases [RCV003259761] Chr19:50821799 [GRCh38]
Chr19:51325055 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002257.4(KLK1):c.59C>G (p.Pro20Arg) single nucleotide variant Inborn genetic diseases [RCV002946147] Chr19:50821859 [GRCh38]
Chr19:51325115 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002257.4(KLK1):c.71G>A (p.Arg24Gln) single nucleotide variant Inborn genetic diseases [RCV002973844] Chr19:50821847 [GRCh38]
Chr19:51325103 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002257.4(KLK1):c.730G>T (p.Ala244Ser) single nucleotide variant Inborn genetic diseases [RCV002840057] Chr19:50819253 [GRCh38]
Chr19:51322509 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002257.4(KLK1):c.286T>C (p.Phe96Leu) single nucleotide variant Inborn genetic diseases [RCV002778146] Chr19:50820364 [GRCh38]
Chr19:51323620 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002257.4(KLK1):c.55C>A (p.Pro19Thr) single nucleotide variant Inborn genetic diseases [RCV002703862] Chr19:50821863 [GRCh38]
Chr19:51325119 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002257.4(KLK1):c.731C>T (p.Ala244Val) single nucleotide variant Inborn genetic diseases [RCV002738564] Chr19:50819252 [GRCh38]
Chr19:51322508 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002257.4(KLK1):c.763G>A (p.Glu255Lys) single nucleotide variant Inborn genetic diseases [RCV002704687] Chr19:50819220 [GRCh38]
Chr19:51322476 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002257.4(KLK1):c.35T>C (p.Leu12Pro) single nucleotide variant Inborn genetic diseases [RCV002916224] Chr19:50823714 [GRCh38]
Chr19:51326970 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002257.4(KLK1):c.410T>C (p.Val137Ala) single nucleotide variant Inborn genetic diseases [RCV002966021] Chr19:50820240 [GRCh38]
Chr19:51323496 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002257.4(KLK1):c.259G>A (p.Ala87Thr) single nucleotide variant Inborn genetic diseases [RCV003364716] Chr19:50820391 [GRCh38]
Chr19:51323647 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43		 likely pathogenic
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 copy number gain not specified [RCV003986127] Chr19:48905537..51614930 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR224hsa-miR-224-3pMirecordsexternal_infoNANA20180642

Predicted Target Of
Summary Value
Count of predictions:3465
Count of miRNA genes:777
Interacting mature miRNAs:885
Transcripts:ENST00000301420, ENST00000448701, ENST00000593325, ENST00000593859, ENST00000596300
Prediction methods:Microtar, 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
RH80224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371951,322,217 - 51,322,462UniSTSGRCh37
Build 361956,014,029 - 56,014,274RGDNCBI36
Celera1948,373,320 - 48,373,565RGD
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.3UniSTS
HuRef1947,656,726 - 47,656,971UniSTS


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 pharyngeal arch
High 1 2 10 1
Medium 547 5 49 77 641 1 1288 3 5 133 88 63 76 11 686 1 1
Low 753 611 920 121 713 42 857 338 594 104 983 1135 89 502 526 1
Below cutoff 1083 2128 567 263 539 260 1850 1658 2445 118 341 332 5 645 1291

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF243527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF277050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY094609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY703451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP323011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA772631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU230447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU230448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L10038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M12706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M25629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S77952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000301420   ⟹   ENSP00000301420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,819,146 - 50,823,787 (-)Ensembl
RefSeq Acc Id: ENST00000593325   ⟹   ENSP00000472939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,819,148 - 50,823,787 (-)Ensembl
RefSeq Acc Id: ENST00000593859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,819,148 - 50,823,787 (-)Ensembl
RefSeq Acc Id: ENST00000596300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,819,271 - 50,820,849 (-)Ensembl
RefSeq Acc Id: NM_002257   ⟹   NP_002248
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,819,146 - 50,823,787 (-)NCBI
GRCh371951,322,402 - 51,327,043 (-)NCBI
Build 361956,014,216 - 56,018,855 (-)NCBI Archive
HuRef1947,656,911 - 47,662,085 (-)NCBI
CHM1_11951,324,194 - 51,328,835 (-)NCBI
T2T-CHM13v2.01953,908,789 - 53,913,431 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_002248   ⟸   NM_002257
- Peptide Label: preproprotein
- UniProtKB: Q9UD19 (UniProtKB/Swiss-Prot),   Q9NQU4 (UniProtKB/Swiss-Prot),   Q9BS53 (UniProtKB/Swiss-Prot),   Q8TCV8 (UniProtKB/Swiss-Prot),   Q86U61 (UniProtKB/Swiss-Prot),   Q66US9 (UniProtKB/Swiss-Prot),   Q9UMJ1 (UniProtKB/Swiss-Prot),   P06870 (UniProtKB/Swiss-Prot),   A0A1R3UCD2 (UniProtKB/TrEMBL),   A0A1L2BPJ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000301420   ⟸   ENST00000301420
RefSeq Acc Id: ENSP00000472939   ⟸   ENST00000593325
Protein Domains
Peptidase S1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P06870-F1-model_v2 AlphaFold P06870 1-262 view protein structure

Promoters
RGD ID:13205297
Promoter ID:EPDNEW_H26229
Type:multiple initiation site
Name:KLK1_1
Description:kallikrein 1
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
GRCh381950,823,787 - 50,823,847EPDNEW
RGD ID:6811632
Promoter ID:HG_ACW:42381
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:KLK1.BAPR07,   KLK1.DAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361956,015,161 - 56,016,077 (-)MPROMDB
RGD ID:6795724
Promoter ID:HG_KWN:30647
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_002257
Position:
Human AssemblyChrPosition (strand)Source
Build 361956,018,376 - 56,018,876 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6357 AgrOrtholog
COSMIC KLK1 COSMIC
Ensembl Genes ENSG00000167748 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000301420 ENTREZGENE
  ENST00000301420.3 UniProtKB/Swiss-Prot
  ENST00000593325.5 UniProtKB/TrEMBL
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000167748 GTEx
HGNC ID HGNC:6357 ENTREZGENE
Human Proteome Map KLK1 Human Proteome Map
InterPro Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3816 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3816 ENTREZGENE
OMIM 147910 OMIM
PANTHER KALLIKREIN-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KALLIKREIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA224 PharmGKB
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1L2BPJ1 ENTREZGENE, UniProtKB/TrEMBL
  A0A1L2BPJ2_HUMAN UniProtKB/TrEMBL
  A0A1R3UCD2 ENTREZGENE, UniProtKB/TrEMBL
  KLK1_HUMAN UniProtKB/Swiss-Prot
  M0R318_HUMAN UniProtKB/TrEMBL
  P06870 ENTREZGENE
  Q66US9 ENTREZGENE
  Q6T776_HUMAN UniProtKB/TrEMBL
  Q86U61 ENTREZGENE
  Q8TCV8 ENTREZGENE
  Q9BS53 ENTREZGENE
  Q9NQU4 ENTREZGENE
  Q9UD19 ENTREZGENE
  Q9UMJ1 ENTREZGENE
UniProt Secondary Q66US9 UniProtKB/Swiss-Prot
  Q86U61 UniProtKB/Swiss-Prot
  Q8TCV8 UniProtKB/Swiss-Prot
  Q9BS53 UniProtKB/Swiss-Prot
  Q9NQU4 UniProtKB/Swiss-Prot
  Q9UD19 UniProtKB/Swiss-Prot
  Q9UMJ1 UniProtKB/Swiss-Prot