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    KLK3 kallikrein related peptidase 3 [ Homo sapiens (human) ]

    Gene ID: 354, updated on 22-Sep-2016
    Official Symbol
    KLK3provided by HGNC
    Official Full Name
    kallikrein related peptidase 3provided by HGNC
    Primary source
    HGNC:HGNC:6364
    See related
    Ensembl:ENSG00000142515 HPRD:01461; MIM:176820; Vega:OTTHUMG00000182867
    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
    APS; PSA; hK3; KLK2A1
    Summary
    Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its protein product is a protease present in seminal plasma. It is thought to function normally in the liquefaction of seminal coagulum, presumably by hydrolysis of the high molecular mass seminal vesicle protein. Serum level of this protein, called PSA in the clinical setting, is useful in the diagnosis and monitoring of prostatic carcinoma. Alternate splicing of this gene generates several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    19q13.41
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (50854915..50860764)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51358171..51364020)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene kallikrein 1 Neighboring gene uncharacterized LOC105372441 Neighboring gene kallikrein related peptidase 15 Neighboring gene kallikrein related peptidase 2 Neighboring gene kallikrein pseudogene 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of serum levels of prostate-specific antigen in the Japanese population.
    NHGRI GWA Catalog
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    NHGRI GWA Catalog
    Genetic correction of PSA values using sequence variants associated with PSA levels.
    NHGRI GWA Catalog
    Genetic variants at 1q32.1, 10q11.2 and 19q13.41 are associated with prostate-specific antigen for prostate cancer screening in two Korean population-based cohort studies.
    NHGRI GWA Catalog
    Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies.
    NHGRI GWA Catalog
    Genome-wide association scan for variants associated with early-onset prostate cancer.
    NHGRI GWA Catalog
    Genome-wide association study identified novel genetic variant on SLC45A3 gene associated with serum levels prostate-specific antigen (PSA) in a Chinese population.
    NHGRI GWA Catalog
    Genome-wide association study identifies genetic determinants of urine PCA3 levels in men.
    NHGRI GWA Catalog
    Multiple newly identified loci associated with prostate cancer susceptibility.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of kallikrein-related peptidase 3 (KLK3) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    serine-type peptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    antibacterial peptide production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    negative regulation of angiogenesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    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 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    prostate-specific antigen
    Names
    P-30 antigen
    gamma-seminoprotein
    kallikrein-3
    semenogelase
    seminin
    NP_001025218.1
    NP_001025219.1
    NP_001639.1

    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_011653.1 RefSeqGene

      Range
      5001..10850
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001030047.1NP_001025218.1  prostate-specific antigen isoform 3 preproprotein

      See identical proteins and their annotated locations for NP_001025218.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site at the end of a coding exon, that causes a frameshift. The resulting isoform (3) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC011523, BC005307, M21896
      Consensus CDS
      CCDS33083.1
      UniProtKB/Swiss-Prot
      P07288
      Related
      ENSP00000353829, OTTHUMP00000270362, ENST00000360617, OTTHUMT00000464073
      Conserved Domains (2) summary
      smart00020
      Location:24209
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:25209
      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_001030048.1NP_001025219.1  prostate-specific antigen isoform 4 preproprotein

      See identical proteins and their annotated locations for NP_001025219.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site at the end of a coding exon. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC011523, BC005307, BQ932072
      Consensus CDS
      CCDS46155.1
      UniProtKB/Swiss-Prot
      P07288
      Related
      ENSP00000471155, OTTHUMP00000270379, ENST00000595952, OTTHUMT00000464111
      Conserved Domains (2) summary
      smart00020
      Location:24210
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:25213
      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_001648.2NP_001639.1  prostate-specific antigen isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_001639.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1) of this protein.
      Source sequence(s)
      X05332
      Consensus CDS
      CCDS12807.1
      UniProtKB/Swiss-Prot
      P07288
      UniProtKB/TrEMBL
      Q546G3
      Related
      ENSP00000314151, OTTHUMP00000270360, ENST00000326003, OTTHUMT00000464067
      Conserved Domains (2) summary
      smart00020
      Location:24253
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:25256
      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 ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      50854915..50860764
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      51359975..51365826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001030049.1: Suppressed sequence

      Description
      NM_001030049.1: This RefSeq was permanently suppressed because it contains non-consensus splice sites that are poorly supported.
    2. NM_001030050.1: Suppressed sequence

      Description
      NM_001030050.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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