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Aliases for KNG1 Gene

Aliases for KNG1 Gene

  • Kininogen 1 2 3
  • Alpha-2-Thiol Proteinase Inhibitor 2 3 4
  • Williams-Fitzgerald-Flaujeac Factor 3 4
  • High Molecular Weight Kininogen 3 4
  • Fitzgerald Factor 3 4
  • Bradykinin 2 3
  • HMWK 3 4
  • BDK 3 4
  • KNG 3 4
  • Kininogen 2
  • BK 3

External Ids for KNG1 Gene

Previous HGNC Symbols for KNG1 Gene

  • KNG
  • BDK

Previous GeneCards Identifiers for KNG1 Gene

  • GC03P187757
  • GC03P187917
  • GC03P186435
  • GC03P183844

Summaries for KNG1 Gene

Entrez Gene Summary for KNG1 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, a peptide causing numerous physiological effects, is released from HMWK. Bradykinin also functions as an antimicrobial peptide with antibacterial and antifungal activity. In contrast to HMWK, LMWK is not involved in blood coagulation. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2014]

GeneCards Summary for KNG1 Gene

KNG1 (Kininogen 1) is a Protein Coding gene. Diseases associated with KNG1 include high molecular weight kininogen deficiency and branched-chain ketoacid dehydrogenase kinase deficiency. Among its related pathways are Signaling by GPCR and Interleukin receptor SHC signaling. GO annotations related to this gene include receptor binding and cysteine-type endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot for KNG1 Gene

  • (1) Kininogens are inhibitors of thiol proteases; (2) HMW-kininogen plays an important role in blood coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; (3) HMW-kininogen inhibits the thrombin- and plasmin-induced aggregation of thrombocytes; (4) the active peptide bradykinin that is released from HMW-kininogen shows a variety of physiological effects: (4A) influence in smooth muscle contraction, (4B) induction of hypotension, (4C) natriuresis and diuresis, (4D) decrease in blood glucose level, (4E) it is a mediator of inflammation and causes (4E1) increase in vascular permeability, (4E2) stimulation of nociceptors (4E3) release of other mediators of inflammation (e.g. prostaglandins), (4F) it has a cardioprotective effect (directly via bradykinin action, indirectly via endothelium-derived relaxing factor action); (5) LMW-kininogen inhibits the aggregation of thrombocytes; (6) LMW-kininogen is in contrast to HMW-kininogen not involved in blood clotting

Tocris Summary for KNG1 Gene

  • Bradykinin and related kinins are a family of small peptides which act as mediators of pain and inflammation. They exert a variety of biological effects on the endothelium and peripheral circulation through their action on two bradykinin receptor subtypes: B1 and B2.

Gene Wiki entry for KNG1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KNG1 Gene

Genomics for KNG1 Gene

Regulatory Elements for KNG1 Gene

Genomic Location for KNG1 Gene

Chromosome:
3
Start:
186,717,276 bp from pter
End:
186,744,410 bp from pter
Size:
27,135 bases
Orientation:
Plus strand

Genomic View for KNG1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for KNG1 Gene

Proteins for KNG1 Gene

  • Protein details for KNG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01042-KNG1_HUMAN
    Recommended name:
    Kininogen-1
    Protein Accession:
    P01042
    Secondary Accessions:
    • A8K474
    • B2RCR2
    • C9JEX1
    • P01043
    • Q53EQ0
    • Q6PAU9
    • Q7M4P1

    Protein attributes for KNG1 Gene

    Size:
    644 amino acids
    Molecular mass:
    71957 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for KNG1 Gene

    Alternative splice isoforms for KNG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KNG1 Gene

Proteomics data for KNG1 Gene at MOPED

Post-translational modifications for KNG1 Gene

  • Bradykinin is released from kininogen by plasma kallikrein
  • Hydroxylation of Pro-383 occurs prior to the release of bradykinin.
  • N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
  • Phosphorylated by FAM20C in the extracellular medium.
  • Glycosylation at Asn 48, Asn 169, Asn 205, Asn 294, Thr 401, Thr 533, Thr 542, Thr 546, Thr 557, Thr 571, Ser 577, and Thr 628
  • Modification sites at PhosphoSitePlus

Other Protein References for KNG1 Gene

Antibody Products

No data available for DME Specific Peptides for KNG1 Gene

Domains & Families for KNG1 Gene

Gene Families for KNG1 Gene

Graphical View of Domain Structure for InterPro Entry

P01042

UniProtKB/Swiss-Prot:

KNG1_HUMAN :
  • Contains 3 cystatin kininogen-type domains.
Domain:
  • Contains 3 cystatin kininogen-type domains.
genes like me logo Genes that share domains with KNG1: view

Function for KNG1 Gene

Molecular function for KNG1 Gene

UniProtKB/Swiss-Prot Function:
(1) Kininogens are inhibitors of thiol proteases; (2) HMW-kininogen plays an important role in blood coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; (3) HMW-kininogen inhibits the thrombin- and plasmin-induced aggregation of thrombocytes; (4) the active peptide bradykinin that is released from HMW-kininogen shows a variety of physiological effects: (4A) influence in smooth muscle contraction, (4B) induction of hypotension, (4C) natriuresis and diuresis, (4D) decrease in blood glucose level, (4E) it is a mediator of inflammation and causes (4E1) increase in vascular permeability, (4E2) stimulation of nociceptors (4E3) release of other mediators of inflammation (e.g. prostaglandins), (4F) it has a cardioprotective effect (directly via bradykinin action, indirectly via endothelium-derived relaxing factor action); (5) LMW-kininogen inhibits the aggregation of thrombocytes; (6) LMW-kininogen is in contrast to HMW-kininogen not involved in blood clotting

Gene Ontology (GO) - Molecular Function for KNG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004869 cysteine-type endopeptidase inhibitor activity IDA 3488317
GO:0005102 receptor binding IPI 11290596
GO:0005515 protein binding IPI 8710908
GO:0008201 heparin binding NAS 12911595
GO:0008270 zinc ion binding NAS 12911595
genes like me logo Genes that share ontologies with KNG1: view
genes like me logo Genes that share phenotypes with KNG1: view

Animal Models for KNG1 Gene

MGI Knock Outs for KNG1:

miRNA for KNG1 Gene

miRTarBase miRNAs that target KNG1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KNG1 Gene

Localization for KNG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KNG1 Gene

Secreted, extracellular space.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KNG1 Gene COMPARTMENTS Subcellular localization image for KNG1 gene
Compartment Confidence
extracellular 5
cytosol 4
plasma membrane 4
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
mitochondrion 2
nucleus 2
vacuole 2
endosome 1

Gene Ontology (GO) - Cellular Components for KNG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 3488317
GO:0005829 cytosol IDA 16014619
GO:0005886 plasma membrane TAS --
GO:0031093 platelet alpha granule lumen TAS --
genes like me logo Genes that share ontologies with KNG1: view

Pathways & Interactions for KNG1 Gene

genes like me logo Genes that share pathways with KNG1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Hypertension in human,mouse,rat
    • Inflammatory Response & Autoimmunity in human,mouse,rat

Gene Ontology (GO) - Biological Process for KNG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006939 smooth muscle contraction TAS 11385996
GO:0006954 inflammatory response TAS 11385996
GO:0007162 negative regulation of cell adhesion IDA 11970955
GO:0007204 positive regulation of cytosolic calcium ion concentration IDA 16014619
genes like me logo Genes that share ontologies with KNG1: view

No data available for SIGNOR curated interactions for KNG1 Gene

Drugs & Compounds for KNG1 Gene

(84) Drugs for KNG1 Gene - From: NovoSeek, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aprotinin Approved, Withdrawn Pharma Inhibitor of bovine pancreatic trypsin 24
Aspirin Approved Pharma Channel blocker 971
Atropine Approved Pharma Antagonist MAChRs antagonist 101
Candesartan Approved Pharma Antagonist Angiotensin II receptor 1 (AT1) antagonist 144
Captopril Approved Pharma Inhibition, Inhibitor ACE inhibitor, ACE inhibitor; also inhibits LTA4 hydrolase 28

(63) Additional Compounds for KNG1 Gene - From: NovoSeek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[Des-Arg9]-Bradykinin
15958-92-6
Bombinakinin M
509151-65-9
Lys-[Des-Arg9]Bradykinin
71800-36-7
Lys-Bradykinin
342-10-9
(S)-Ketoprofen
genes like me logo Genes that share compounds with KNG1: view

Transcripts for KNG1 Gene

Unigene Clusters for KNG1 Gene

Kininogen 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KNG1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: -
SP2: - -
SP3: - -

Relevant External Links for KNG1 Gene

GeneLoc Exon Structure for
KNG1
ECgene alternative splicing isoforms for
KNG1

Expression for KNG1 Gene

mRNA expression in normal human tissues for KNG1 Gene

mRNA differential expression in normal tissues according to GTEx for KNG1 Gene

This gene is overexpressed in Liver (x49.0).

Protein differential expression in normal tissues from HIPED for KNG1 Gene

This gene is overexpressed in Synovial fluid (13.5), Serum (13.4), Plasma (11.4), Urine (11.1), and Monocytes (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KNG1 Gene



SOURCE GeneReport for Unigene cluster for KNG1 Gene Hs.77741

mRNA Expression by UniProt/SwissProt for KNG1 Gene

P01042-KNG1_HUMAN
Tissue specificity: Secreted in plasma. T-kinin is detected in malignant ovarian, colon and breast carcinomas, but not in benign tumors.
genes like me logo Genes that share expression patterns with KNG1: view

Protein tissue co-expression partners for KNG1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for KNG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KNG1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KNG1 35
  • 79.97 (n)
  • 70.76 (a)
KNG1 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KNG1 35
  • 82.11 (n)
  • 72.77 (a)
KNG1 36
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kng1 35
  • 72.53 (n)
  • 60.6 (a)
Kng1 16
Kng1 36
  • 57 (a)
OneToMany
Kng2 36
  • 57 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia KNG1 35
  • 99.22 (n)
  • 98.6 (a)
KNG1 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kng2 35
  • 73.14 (n)
  • 60.19 (a)
oppossum
(Monodelphis domestica)
Mammalia KNG1 36
  • 34 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KNG1 36
  • 34 (a)
OneToOne
chicken
(Gallus gallus)
Aves KNG1 35
  • 53.76 (n)
  • 40.36 (a)
KNG1 36
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KNG1 36
  • 37 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kng1 35
  • 49.29 (n)
  • 35.14 (a)
zebrafish
(Danio rerio)
Actinopterygii kng1 36
  • 26 (a)
OneToOne
Species with no ortholog for KNG1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KNG1 Gene

ENSEMBL:
Gene Tree for KNG1 (if available)
TreeFam:
Gene Tree for KNG1 (if available)

Paralogs for KNG1 Gene

(1) SIMAP similar genes for KNG1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with KNG1: view

No data available for Paralogs for KNG1 Gene

Variants for KNG1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KNG1 Gene

P01042-KNG1_HUMAN
The T-kinin peptide is missing residues 378 to 380, probably as a result of a naturally occurring variant. The complete sequence of the T-kinin peptide is therefore ISRPPGFSPFR. This peptide is associated with malignant tumors but not with benign ones

Sequence variations from dbSNP and Humsavar for KNG1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs11057 -- 186,743,686(-) AAAAC(A/C/G/T)CAGTT intron-variant
rs166479 -- 186,725,461(-) CAAAC(A/G)TCAAA intron-variant
rs192371 -- 186,725,500(-) AGGAA(A/G)AGCCT intron-variant
rs266723 -- 186,729,258(-) caaat(G/T)atttt intron-variant
rs266724 -- 186,725,967(-) caaca(C/G)agcga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KNG1 Gene

Variant ID Type Subtype PubMed ID
dgv1541e1 CNV Complex 17122850
nsv878068 CNV Gain 21882294
esv34136 CNV Loss 18971310
esv2661616 CNV Deletion 23128226
nsv878069 CNV Loss 21882294
nsv878070 CNV Loss 21882294
esv2669790 CNV Deletion 23128226

Variation tolerance for KNG1 Gene

Residual Variation Intolerance Score: 30.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.37; 90.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KNG1 Gene

HapMap Linkage Disequilibrium report
KNG1
Human Gene Mutation Database (HGMD)
KNG1

Disorders for KNG1 Gene

MalaCards: The human disease database

(32) MalaCards diseases for KNG1 Gene - From: OMIM, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
high molecular weight kininogen deficiency
  • flaujeac factor deficiency
branched-chain ketoacid dehydrogenase kinase deficiency
  • bckdkd
c1 inhibitor deficiency
  • quincke edema
diffuse scleroderma
  • systemic scleroderma
angioedema
  • quincke's edema
- elite association
Search KNG1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KNG1_HUMAN
  • High molecular weight kininogen deficiency (HMWK deficiency) [MIM:228960]: Autosomal recessive coagulation defect. Patients with HWMK deficiency do not have a hemorrhagic tendency, but they exhibit abnormal surface-mediated activation of fibrinolysis. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KNG1

Genetic Association Database (GAD)
KNG1
Human Genome Epidemiology (HuGE) Navigator
KNG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KNG1
genes like me logo Genes that share disorders with KNG1: view

No data available for Genatlas for KNG1 Gene

Publications for KNG1 Gene

  1. Chromosomal mapping of human kininogen gene (KNG) to 3q26----qter. (PMID: 1733668) Cheung P.P. … Colman R.W. (Cytogenet. Cell Genet. 1992) 2 23 67
  2. Human astrocytic bradykinin B(2) receptor modulates zymosan-induced cytokine expression in 1321N1 cells. (PMID: 19854233) Kim D. … Choi S.Y. (Peptides 2010) 23 67
  3. Upregulation of tissue factor in monocytes by cleaved high molecular weight kininogen is dependent on TNF-alpha and IL-1beta. (PMID: 19966052) Khan M.M. … Colman R.W. (Am. J. Physiol. Heart Circ. Physiol. 2010) 23 67
  4. Bradykinin forming capacity of oversulfated chondroitin sulfate contaminated heparin in vitro. (PMID: 20427081) Adam A. … Westenberger B. (Biomaterials 2010) 23 67
  5. The acquired deficiency of C1-inhibitor: lymphoproliferation and angioedema. (PMID: 20455857) Cicardi M. … Zanichelli A. (Curr. Mol. Med. 2010) 23 67

Products for KNG1 Gene

Sources for KNG1 Gene

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