KNG1 (kininogen 1)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3827
Gene name Gene Name - the full gene name approved by the HGNC.
Kininogen 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KNG1
Synonyms (NCBI Gene) Gene synonyms aliases
BDK, BK, HAE6, HK, HMWK, KNG
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q27.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs Other IDs 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.
Gene SNPs Other IDs 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 assay, Western blotting, Immunoprecipitaion (IP), Immunohistochemistry (IHC), qRT-PCR, Flow 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 information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs 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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
612358 6383 ENSG00000113889
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
High molecular weight kininogen deficiency high molecular weight kininogen deficiency rs121918131 N/A
Total Kininogen Deficiency KININOGEN DEFICIENCY, TOTAL rs121918131 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Angioedema Hereditary angioedema with normal C1Inh, angioedema, hereditary, 6 N/A N/A ClinVar, GenCC
Show/Hide Text Mining Associations (99)
Associations from Text Mining Disease 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