KNG1 (kininogen 1)

Gene

• Entrez ID: 3827
• Gene name: Kininogen 1
• Gene symbol: KNG1
• Synonyms: BDK, BK, HAE6, HK, HMWK, KNG
• 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 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

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
MIRT2027022	hsa-miR-1253	CLIP-seq
MIRT2027023	hsa-miR-3174	CLIP-seq
MIRT2027024	hsa-miR-4499	CLIP-seq
MIRT2027025	hsa-miR-4762-3p	CLIP-seq
MIRT1099504	hsa-miR-496	CLIP-seq
MIRT2027026	hsa-miR-5096	CLIP-seq
MIRT2027027	hsa-miR-921	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002576	Process	Platelet degranulation	TAS
GO:0004866	Function	Endopeptidase inhibitor activity	IBA	21873635
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IBA	21873635
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IDA	3488317
GO:0005102	Function	Signaling receptor binding	IPI	11290596
GO:0005515	Function	Protein binding	IPI	8710908, 23082758
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IBA	21873635
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	3488317
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006954	Process	Inflammatory response	IEA
GO:0007162	Process	Negative regulation of cell adhesion	IDA	11970955
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IBA	21873635
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IDA	16014619
GO:0007597	Process	Blood coagulation, intrinsic pathway	TAS
GO:0008201	Function	Heparin binding	NAS	12911595
GO:0008270	Function	Zinc ion binding	NAS	12911595
GO:0010951	Process	Negative regulation of endopeptidase activity	IBA	21873635
GO:0030195	Process	Negative regulation of blood coagulation	IBA	21873635
GO:0030195	Process	Negative regulation of blood coagulation	IDA	11970955
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0042311	Process	Vasodilation	IEA
GO:0043065	Process	Positive regulation of apoptotic process	NAS	12715893
GO:0043687	Process	Post-translational protein modification	TAS
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0045861	Process	Negative regulation of proteolysis	IDA	3488317
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231, 27559042, 28675934
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0072562	Component	Blood microparticle	HDA	22516433

Other IDs

• MIM: 612358
• HGNC: 6383
• e!Ensembl: ENSG00000113889

Protein

• 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

• Sequence:

  MKLITILFLCSRLLLSLTQESQSEEIDCNDKDLFKAVDAALKKYNSQNQSNNQFVLYRIT
  EATKTVGSDTFYSFKYEIKEGDCPVQSGKTWQDCEYKDAAKAATGECTATVGKRSSTKFS
  VATQTCQITPAEGPVVTAQYDCLGCVHPISTQSPDLEPILRHGIQYFNNNTQHSSLFMLN
  EVKRAQRQVVAGLNFRITYSIVQTNCSKENFLFLTPDCKSLWNGDTGECTDNAYIDIQLR
  IASFSQNCDIYPGKDFVQPPTKICVGCPRDIPTNSPELEETLTHTITKLNAENNATFYFK
  IDNVKKARVQVVAGKKYFIDFVARETTCSKESNEELTESCETKKLGQSLDCNAEVYVVPW
  EKKIYPTVNCQPLGMISLMKRPPGFSPFRSSRIGEIKEETTVSPPHTSMAPAQDEERDSG
  KEQGHTRRHDWGHEKQRKHNLGHGHKHERDQGHGHQRGHGLGHGHEQQHGLGHGHKFKLD
  DDLEHQGGHVLDHGHKHKHGHGHGKHKNKGKKNGKHNGWKTEHLASSSEDSTTPSAQTQE
  KTEGPTPIPSLAKPGVTVTFSDFQDSDLIATMMPPISPAPIQSDDDWIPDIQIDPNGLSF
  NPISDFPDTTSPKCPGRPWKSVSEINPTTQMKESYYFDLTDGLS

• Sequence length: 644