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

Gene ID: 354, updated on 27-Apr-2015
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
See KLK3 in MapViewer
Location:
19q13.41
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (50854915..50877702)
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 Neighboring gene kallikrein-related peptidase 4

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 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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
serine-type peptidase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
negative regulation of angiogenesis NAS
Non-traceable Author Statement
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
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
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
prostate-specific antigen
Names
prostate-specific antigen
P-30 antigen
gamma-seminoprotein
kallikrein-3
prostate specific antigen
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
    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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    50854915..50877702
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526923.1XP_011525225.1  

    See identical proteins and their annotated locations for XP_011525225.1

    Conserved Domains (2) summary
    smart00020
    Location:24259
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:25262
    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_011526924.1XP_011525226.1  

    Conserved Domains (2) summary
    smart00020
    Location:24215
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:25215
    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 ...

RNA

  1. XR_935817.1 RNA Sequence

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.