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KLKB1 kallikrein B1 [ Homo sapiens (human) ]

Gene ID: 3818, updated on 22-Aug-2020

Summary

Official Symbol
KLKB1provided by HGNC
Official Full Name
kallikrein B1provided by HGNC
Primary source
HGNC:HGNC:6371
See related
Ensembl:ENSG00000164344 MIM:229000
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
PKK; PPK; KLK3; PKKD
Summary
This gene encodes a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. The encoded preproprotein present in plasma as a non-covalent complex with high molecular weight kininogen undergoes proteolytic processing mediated by activated coagulation factor XII to generate a disulfide-linked, heterodimeric serine protease comprised of heavy and light chains. Certain mutations in this gene cause prekallikrein deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Expression
Biased expression in liver (RPKM 44.5) and kidney (RPKM 1.2) See more
Orthologs

Genomic context

See KLKB1 in Genome Data Viewer
Location:
4q35.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (186215714..186258477)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (187148502..187179625)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC651430 Neighboring gene cytochrome P450 family 4 subfamily V member 2 Neighboring gene coagulation factor XI Neighboring gene F11 antisense RNA 1 Neighboring gene solute carrier family 25 member 5 pseudogene 6

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
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Genetic determinants influencing human serum metabolome among African Americans.
GeneReviews: Not available
Genome-wide association of lipid-lowering response to statins in combined study populations.
GeneReviews: Not available
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
GeneReviews: Not available
Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1.
GeneReviews: Not available
Human metabolic individuality in biomedical and pharmaceutical research.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
GeneReviews: Not available
Prekallikrein deficiency
MedGen: C0272339 OMIM: 612423 GeneReviews: Not available
Compare labs

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Factor XII activation TAS
Traceable Author Statement
more info
PubMed 
blood coagulation, intrinsic pathway TAS
Traceable Author Statement
more info
 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
fibrinolysis IEA
Inferred from Electronic Annotation
more info
 
plasminogen activation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of fibrinolysis IDA
Inferred from Direct Assay
more info
PubMed 
proteolysis TAS
Traceable Author Statement
more info
PubMed 
zymogen activation TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
plasma kallikrein
Names
kallikrein B, plasma (Fletcher factor) 1
kininogenin
plasma prekallikrein
NP_000883.2
NP_001305323.1
NP_001305325.1
XP_011530232.1
XP_016863670.1
XP_016863671.1
XP_016863672.1
XP_016863673.1

NCBI Reference Sequences (RefSeq)

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_012095.2 RefSeqGene

    Range
    23529..54493
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000892.5NP_000883.2  plasma kallikrein isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_000883.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK292624, AW182528, CN265612, M13143
    Consensus CDS
    CCDS34120.1
    UniProtKB/Swiss-Prot
    P03952
    UniProtKB/TrEMBL
    A8K9A9
    Related
    ENSP00000264690.6, ENST00000264690.11
    Conserved Domains (3) summary
    smart00223
    Location:21104
    APPLE; APPLE domain
    smart00020
    Location:390621
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:391621
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
  2. NM_001318394.2NP_001305323.1  plasma kallikrein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.
    Source sequence(s)
    AC110771, AK292624, AK297672, AW182528
    Consensus CDS
    CCDS82982.1
    UniProtKB/TrEMBL
    A8K9A9, B4DMX2, E9PBC5
    Related
    ENSP00000424469.2, ENST00000513864.2
    Conserved Domains (3) summary
    smart00223
    Location:163246
    APPLE; APPLE domain
    smart00020
    Location:352485
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:353500
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
  3. NM_001318396.2NP_001305325.1  plasma kallikrein isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC110771, AK292624, AW182528, BC143911
    UniProtKB/TrEMBL
    A8K9A9
    Related
    ENST00000511406.5
    Conserved Domains (4) summary
    smart00223
    Location:90173
    APPLE; APPLE domain
    smart00020
    Location:188419
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:189419
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    cl00112
    Location:5182
    PAN_APPLE; PAN/APPLE-like domain; present in N-terminal (N) domains of plasminogen/ hepatocyte growth factor proteins, plasma prekallikrein/coagulation factor XI and microneme antigen proteins, plant receptor-like protein kinases, and various nematode and leech ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    186215714..186258477
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008181.1XP_016863670.1  plasma kallikrein isoform X1

    Conserved Domains (3) summary
    smart00223
    Location:21104
    APPLE; APPLE domain
    smart00020
    Location:401632
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:402632
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
  2. XM_011531930.2XP_011530232.1  plasma kallikrein isoform X1

    See identical proteins and their annotated locations for XP_011530232.1

    Conserved Domains (3) summary
    smart00223
    Location:21104
    APPLE; APPLE domain
    smart00020
    Location:401632
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:402632
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
  3. XM_017008183.1XP_016863672.1  plasma kallikrein isoform X3

  4. XM_017008182.1XP_016863671.1  plasma kallikrein isoform X2

  5. XM_017008184.1XP_016863673.1  plasma kallikrein isoform X4

    Conserved Domains (4) summary
    smart00223
    Location:90173
    APPLE; APPLE domain
    smart00020
    Location:188419
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:189419
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    cl00112
    Location:5182
    PAN_APPLE; PAN/APPLE-like domain; present in N-terminal (N) domains of plasminogen/ hepatocyte growth factor proteins, plasma prekallikrein/coagulation factor XI and microneme antigen proteins, plant receptor-like protein kinases, and various nematode and leech ...
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