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KNG1 kininogen 1 [ Homo sapiens (human) ]

Gene ID: 3827, updated on 4-Dec-2022

Summary

Official Symbol
KNG1provided by HGNC
Official Full Name
kininogen 1provided by HGNC
Primary source
HGNC:HGNC:6383
See related
Ensembl:ENSG00000113889 MIM:612358; AllianceGenome:HGNC:6383
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BK; HK; BDK; KNG; HAE6; HMWK
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, 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. Infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) reduces or depletes angiotensin converting enzyme 2 (ACE2), which results in an increase in levels of des-Arg(9)-bradykinin, a bioactive metabolite of bradykinin that is associated with lung injury and inflammation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2020]
Annotation information
Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
Expression
Restricted expression toward liver (RPKM 432.8) See more
Orthologs
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Genomic context

See KNG1 in Genome Data Viewer
Location:
3q27.3
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (186717359..186744410)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (189539122..189566165)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (186435148..186462199)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene HRG and FETUB antisense RNA 1 Neighboring gene histidine rich glycoprotein Neighboring gene HRG pseudogene 1 Neighboring gene proteasome 26S subunit, non-ATPase, 10 pseudogene 2 Neighboring gene RNA, U6 small nuclear 1105, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Angioedema, hereditary, 6
MedGen: C5543516 OMIM: 619363 GeneReviews: Not available
Compare labs
High molecular weight kininogen deficiency
MedGen: C0272340 OMIM: 228960 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.
EBI GWAS Catalog
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
EBI GWAS Catalog
Genome-wide association study for adiponectin levels in Filipino women identifies CDH13 and a novel uncommon haplotype at KNG1-ADIPOQ.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cysteine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables heparin binding NAS
Non-traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables zinc ion binding NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
kininogen-1
Names
alpha-2-thiol proteinase inhibitor
bradykinin
fitzgerald factor
high molecular weight kininogen
williams-Fitzgerald-Flaujeac factor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016009.1 RefSeqGene

    Range
    5051..32102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_598

mRNA and Protein(s)

  1. NM_000893.4NP_000884.1  kininogen-1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_000884.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice pattern in the 3' coding region, compared to variant 1. The resulting isoform (2), also known as low molecular weight preprokininogen, has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC109780, AC112907, DC362362, K02566
    Consensus CDS
    CCDS3281.1
    UniProtKB/Swiss-Prot
    P01042
    Related
    ENSP00000287611.2, ENST00000287611.8
    Conserved Domains (1) summary
    pfam00031
    Location:266360
    Cystatin; Cystatin domain
  2. NM_001102416.3NP_001095886.1  kininogen-1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001095886.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1), also known as high molecular weight preprokininogen.
    Source sequence(s)
    AC109780, AC112907, DC362362, K02566
    Consensus CDS
    CCDS43183.1
    UniProtKB/Swiss-Prot
    P01042, Q7M4P1
    Related
    ENSP00000493985.1, ENST00000644859.2
    Conserved Domains (1) summary
    cd00042
    Location:266370
    CY; Cystatin-like domain; Cystatins are a family of cysteine protease inhibitors that occur mainly as single domain proteins. However some extracellular proteins such as kininogen, His-rich glycoprotein and fetuin also contain these domains.
  3. NM_001166451.2NP_001159923.1  kininogen-1 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice pattern in the 3' coding region and lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus and lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC112907, CD014130
    Consensus CDS
    CCDS54695.1
    UniProtKB/Swiss-Prot
    P01042
    Related
    ENSP00000396025.1, ENST00000447445.1
    Conserved Domains (1) summary
    pfam00031
    Location:230324
    Cystatin; Cystatin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    186717359..186744410
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    189539122..189566165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)