KNG1 (kininogen 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3827
Gene name Kininogen 1
Gene symbol KNG1
Synonyms (NCBI Gene)
BDKBKHAE6HKHMWKKNG
Chromosome 3
Chromosome location 3q27.3
Summary This gene uses alternative splicing to generate two different proteins- high molecular weight kininogen (HMWK) and low molecular weight kininogen (LMWK). HMWK is essential for blood coagulation and assembly of the kallikrein-kinin system. Also, bradykinin
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs121918131 C>G,T Pathogenic Stop gained, missense variant, intron variant, coding sequence variant
rs797044429 A>- Affects Frameshift variant, intron variant, coding sequence variant
rs797044430 ->C Affects Frameshift variant, intron variant, coding sequence variant
rs869320718 TTGTTGTTGTTGTTGTTTGTTTTTTGT>GGTGGTGGTGGTGGTGGTTTGTTTTTGG Affects Intron variant
miRNA miRNA information provided by mirtarbase database.
12
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (12)
miRTarBase ID miRNA Experiments Reference
MIRT021957 hsa-miR-128-3p Microarray 17612493
MIRT755321 hsa-miR-942-5p Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)Immunohistochemistry (IHC)qRT-PCRFlow cytometry 36550594
MIRT1099502 hsa-miR-3689d CLIP-seq
MIRT1099503 hsa-miR-4443 CLIP-seq
MIRT1099504 hsa-miR-496 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (42)
GO ID Ontology Definition Evidence Reference
GO:0004869 Function Cysteine-type endopeptidase inhibitor activity IBA
GO:0004869 Function Cysteine-type endopeptidase inhibitor activity IDA 3488317
GO:0004869 Function Cysteine-type endopeptidase inhibitor activity IEA
GO:0005102 Function Signaling receptor binding IPI 11290596
GO:0005179 Function Hormone activity IDA 1314587, 1329734
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612358 6383 ENSG00000113889
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01042
Protein name Kininogen-1 (Alpha-2-thiol proteinase inhibitor) (Fitzgerald factor) (High molecular weight kininogen) (HMWK) (Williams-Fitzgerald-Flaujeac factor) [Cleaved into: Kininogen-1 heavy chain; T-kinin (Ile-Ser-Bradykinin); Bradykinin (Kallidin I); Lysyl-bradyk
Protein function Kininogens are inhibitors of thiol proteases. HMW-kininogen plays an important role in blood coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; HMW-kininogen inhibits the thrombin- and plasmin-induced ag
PDB 1NY2 , 2WOK , 4ASQ , 4ASR , 4ECB , 4ECC , 5I25 , 6F27 , 6F3V , 6F3W , 6F3X , 6F3Y , 7EIB , 7F2O , 7F6H , 7F6I , 7QOT , 7QOX , 8VJX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00031 Cystatin 21 → 116 Cystatin domain Domain
PF00031 Cystatin 144 → 238 Cystatin domain Domain
PF00031 Cystatin 266 → 360 Cystatin domain Domain
Tissue specificity TISSUE SPECIFICITY: Secreted in plasma. T-kinin is detected in malignant ovarian, colon and breast carcinomas, but not in benign tumors. {ECO:0000269|PubMed:2076202}.
Sequence 
MKLITILFLCSRLLLSLTQESQSEEIDCNDKDLFKAVDAALKKYNSQNQSNNQFVLYRIT
EATKTVGSDTFYSFKYEIKEGDCPVQSGKTWQDCEYKDAAKAATGECTATVGKRSSTKFS
VATQTCQITPAEGPVVTAQYDCLGCVHPISTQSPDLEPILRHGIQYFNNNTQHSSLFMLN
EVKRAQRQVVAGLNFRITYSIVQTNCSKENFLFLTPDCKSLWNGDTGECTDNAYIDIQLR
IASFSQNCDIYPGKDFVQPPTKICVGCPRDIPTNSPELEETLTHTITKLNAENNATFYFK
IDNVKKARVQVVAGKKYFIDFVARETTCSKESNEELTESCETKKLGQSLDCNAEVYVVPW
EKKIYPTVNCQPLGMISLMKRPPGFSPFRSSRIGEIKEETTVSPPHTSMAPAQDEERDSG
KEQGHTRRHDWGHEKQRKHNLGHGHKHERDQGHGHQRGHGLGHGHEQQHGLGHGHKFKLD
DDLEHQGGHVLDHGHKHKHGHGHGKHKNKGKKNGKHNGWKTEHLASSSEDSTTPSAQTQE
KTEGPTPIPSLAKPGVTVTFSDFQDSDLIATMMPPISPAPIQSDDDWIPDIQIDPNGLSF
NPISDFPDTTSPKCPGRPWKSVSEINPTTQMKESYYFDLTDGLS
Sequence length 644
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  cGMP-PKG signaling pathway
Sphingolipid signaling pathway
Neuroactive ligand-receptor interaction
Complement and coagulation cascades
Inflammatory mediator regulation of TRP channels
Regulation of actin cytoskeleton
Chagas disease
African trypanosomiasis
Pathways in cancer 		  Platelet degranulation
Intrinsic Pathway of Fibrin Clot Formation
Peptide ligand-binding receptors
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
G alpha (q) signalling events
G alpha (i) signalling events
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
27
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Angioedema, hereditary, 6 Pathogenic rs765933558, rs1369253342 RCV001507296
RCV001507297
High molecular weight kininogen deficiency Pathogenic rs121918131, rs752411996, rs2473875619, rs377594184, rs761496908 RCV003325447
RCV002467396
RCV003325634
RCV003325635
RCV003325636
KININOGEN DEFICIENCY, TOTAL Pathogenic rs121918131 RCV000000602
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary angioedema with normal C1Inh not provided; Likely benign rs1579107719, rs1579116763 RCV001027410
RCV001027411
KNG1-related disorder Uncertain significance; Benign; Likely benign rs186409594, rs2304456, rs5029980, rs5030085, rs1469859, rs762183606, rs767631674, rs567819050, rs5030086, rs199608267 RCV003946441
RCV003919767
RCV003974672
RCV003974114
RCV003979833
RCV003901595
RCV003967274
RCV003931958
RCV003978954
RCV003969042
Thrombus Uncertain significance rs755247533 RCV002280930
Show/Hide Text Mining Associations (99)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Pain Associate 33864899
Acute Disease Associate 11028659, 18433037
Acute Pain Associate 33864899
Adenocarcinoma of Lung Associate 26879013
Adenoma Associate 23894665
Altitude Sickness Associate 20511677
Alzheimer Disease Associate 19233276, 26884824, 35612774
Angioedema Associate 23940538, 25401373, 31397881, 31488451, 33799813, 33864899, 37524594
Angioedemas Hereditary Associate 23940538, 24722707, 29729940, 31236065, 31397881, 31933486, 33034563, 33593719, 33639628, 34838707, 36142237, 36787826, 37524594, 37992228, 39362190
Angioedemas Hereditary Stimulate 31488451, 34684170, 36251573, 38142864