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KLK6 kallikrein related peptidase 6 [ Homo sapiens (human) ]

Gene ID: 5653, updated on 2-Nov-2024

Summary

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Official Symbol
KLK6provided by HGNC
Official Full Name
kallikrein related peptidase 6provided by HGNC
Primary source
HGNC:HGNC:6367
See related
Ensembl:ENSG00000167755 MIM:602652; AllianceGenome:HGNC:6367
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
hK6; Bssp; Klk7; SP59; PRSS9; PRSS18
Summary
This gene encodes a member of the kallikrein subfamily of the peptidase S1 family of serine proteases. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. The encoded preproprotein is proteolytically processed to generate the mature protease. Expression of this protease is regulated by steroid hormones and may be elevated in multiple human cancers and in serum from psoriasis patients. The encoded protease may participate in the cleavage of amyloid precursor protein and alpha-synuclein, thus implicating this protease in Alzheimer's and Parkinson's disease, respectively. This gene is located in a gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
Expression
Biased expression in esophagus (RPKM 23.8), brain (RPKM 23.7) and 4 other tissues See more
Orthologs
all
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Genomic context

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See KLK6 in Genome Data Viewer
Location:
19q13.41
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50958631..50969591, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (54046713..54057995, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51461887..51472847, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase A pseudogene 59 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:51442294-51442457 Neighboring gene uncharacterized LOC105372442 Neighboring gene kallikrein related peptidase 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51486908-51487462 Neighboring gene kallikrein related peptidase 7 Neighboring gene MPRA-validated peak3546 silencer Neighboring gene Sharpr-MPRA regulatory region 5518 Neighboring gene kallikrein related peptidase 8

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Evaluation and prognostic significance of human tissue kallikrein-related peptidase 6 (KLK6) in colorectal cancer. Petraki C, et al. Pathol Res Pract, 2012 Feb 15. PMID 22285222
  2. Differential N-glycosylation of kallikrein 6 derived from ovarian cancer cells or the central nervous system. Kuzmanov U, et al. Mol Cell Proteomics, 2009 Apr. PMID 19088065, Free PMC Article
  3. A tumor-protective role for human kallikrein-related peptidase 6 in breast cancer mediated by inhibition of epithelial-to-mesenchymal transition. Pampalakis G, et al. Cancer Res, 2009 May 1. PMID 19383923
  4. High kallikrein-related peptidase 6 in non-small cell lung cancer cells: an indicator of tumour proliferation and poor prognosis. Nathalie HV, et al. J Cell Mol Med, 2009 Sep. PMID 19426157, Free PMC Article
  5. [Correlation of hK6 expression with clinicopathological features and prognosis in epithelial ovarian cancer]. Hu CJ, et al. Zhonghua Zhong Liu Za Zhi, 2009 Jul. PMID 19950700

See all (118) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A KLK6 Activity-Based Probe Reveals a Role for KLK6 Activity in Pancreatic Cancer Cell Invasion.
    Title: A KLK6 Activity-Based Probe Reveals a Role for KLK6 Activity in Pancreatic Cancer Cell Invasion.
  2. KLK6 Functions as an Oncogene and Unfavorable Prognostic Factor in Bladder Urothelial Carcinoma.
    Title: KLK6 Functions as an Oncogene and Unfavorable Prognostic Factor in Bladder Urothelial Carcinoma.
  3. Kallikrein-Related Peptidase 6 (KLK6) as a Contributor toward an Aggressive Cancer Cell Phenotype: A Potential Role in Colon Cancer Peritoneal Metastasis.
    Title: Kallikrein-Related Peptidase 6 (KLK6) as a Contributor toward an Aggressive Cancer Cell Phenotype: A Potential Role in Colon Cancer Peritoneal Metastasis.
  4. Ectopic expression of KLK6 in MDA-MB-435 melanoma cells reduces tumorigenicity in vivo.
    Title: Ectopic expression of KLK6 in MDA-MB-435 melanoma cells reduces tumorigenicity in vivo.
  5. Molecular Pathways Associated with Kallikrein 6 Overexpression in Colorectal Cancer.
    Title: Molecular Pathways Associated with Kallikrein 6 Overexpression in Colorectal Cancer.
  6. Comprehensive Identification of the Human Secretome as Potential Indicators in Treatment Outcome of HPV-Positive and -Negative Cervical Cancer Patients.
    Title: Comprehensive Identification of the Human Secretome as Potential Indicators in Treatment Outcome of HPV-Positive and -Negative Cervical Cancer Patients.
  7. KLK6 expression in skin induces PAR1-mediated psoriasiform dermatitis and inflammatory joint disease.
    Title: KLK6 expression in skin induces PAR1-mediated psoriasiform dermatitis and inflammatory joint disease.
  8. Exploring the putative role of kallikrein-6, calpain-1 and cathepsin-D in the proteolytic degradation of alpha-synuclein in multiple system atrophy.
    Title: Exploring the putative role of kallikrein-6, calpain-1 and cathepsin-D in the proteolytic degradation of α-synuclein in multiple system atrophy.
  9. previously unknown pathways implicating KLK6 in breast cancer, are reported.
    Title: Biochemical pathways mediated by KLK6 protease in breast cancer.
  10. KLK6 expression is significantly downregulated in healthy palatal mucosa of smokers
    Title: Whole transcriptome analysis of smoker palatal mucosa identifies multiple downregulated innate immunity genes.
Submit: New GeneRIF Correction See all GeneRIFs (89)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC9355

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables serine-type endopeptidase activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in amyloid precursor protein metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in central nervous system development NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in collagen catabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in hormone metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in myelination NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein autoprocessing NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in protein maturation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of cell differentiation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
  
involved_in response to wounding NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in tissue regeneration NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cornified envelope IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular region IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in intercellular bridge IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
  
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in secretory granule IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
kallikrein-6
Names
neurosin
protease M
serine protease 18
serine protease 9
zyme

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_011825.2 RefSeqGene

    Range
    5000..15960
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001012964.3 → NP_001012982.1  kallikrein-6 isoform A preproprotein

    See identical proteins and their annotated locations for NP_001012982.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B, also known as 1) differs in the 5' UTR compared to variant A. Both variants A and B encode the same isoform (A).
    Source sequence(s)
    AC011483
    Consensus CDS
    CCDS12811.1
    UniProtKB/Swiss-Prot
    A6NJA1, A8MW09, Q6H301, Q92876
    UniProtKB/TrEMBL
    A0A1R3UCE8
    Related
    ENSP00000366047.2, ENST00000376851.7
    Conserved Domains (1) summary
    smart00020
    Location:23 → 237
    Tryp_SPc; Trypsin-like serine protease

  2. NM_001012965.3 → NP_001012983.1  kallikrein-6 isoform B

    See identical proteins and their annotated locations for NP_001012983.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (C, also known as 2) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream translation start site compared to variant A. The resulting isoform (B) has a shorter N-terminus compared to isoform A. Variants C-E encode the same isoform (B).
    Source sequence(s)
    AC011483
    Consensus CDS
    CCDS42599.1
    UniProtKB/Swiss-Prot
    Q92876
    Related
    ENSP00000375684.1, ENST00000391808.5
    Conserved Domains (1) summary
    smart00020
    Location:1 → 130
    Tryp_SPc; Trypsin-like serine protease

  3. NM_001319948.2 → NP_001306877.1  kallikrein-6 isoform B

    Status: REVIEWED

    Description
    Transcript Variant: This variant (D) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream translation start site compared to variant A. The resulting isoform (B) has a shorter N-terminus and lacks a predicted signal peptide compared to isoform A. Variants C-E encode the same isoform (B).
    Source sequence(s)
    AC011483
    Consensus CDS
    CCDS42599.1
    UniProtKB/Swiss-Prot
    Q92876
    Conserved Domains (1) summary
    smart00020
    Location:1 → 130
    Tryp_SPc; Trypsin-like serine protease

  4. NM_001319949.2 → NP_001306878.1  kallikrein-6 isoform B

    Status: REVIEWED

    Description
    Transcript Variant: This variant (E) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream translation start site compared to variant A. The resulting isoform (B) has a shorter N-terminus and lacks a predicted signal peptide compared to isoform A. Variants C-E encode the same isoform (B).
    Source sequence(s)
    AC011483
    Consensus CDS
    CCDS42599.1
    UniProtKB/Swiss-Prot
    Q92876
    Conserved Domains (1) summary
    smart00020
    Location:1 → 130
    Tryp_SPc; Trypsin-like serine protease

  5. NM_002774.4 → NP_002765.1  kallikrein-6 isoform A preproprotein

    See identical proteins and their annotated locations for NP_002765.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A), also called the classical form, is the most frequently occurring transcript. Variants A and B encode the same isoform (A).
    Source sequence(s)
    AC011483
    Consensus CDS
    CCDS12811.1
    UniProtKB/Swiss-Prot
    A6NJA1, A8MW09, Q6H301, Q92876
    UniProtKB/TrEMBL
    A0A1R3UCE8
    Related
    ENSP00000309148.1, ENST00000310157.7
    Conserved Domains (1) summary
    smart00020
    Location:23 → 237
    Tryp_SPc; Trypsin-like serine protease

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    50958631..50969591 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451611.2 → XP_024307379.1  kallikrein-6 isoform X1

    Conserved Domains (1) summary
    smart00020
    Location:1 → 130
    Tryp_SPc; Trypsin-like serine protease

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    54046713..54057995 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321477.1 → XP_054177452.1  kallikrein-6 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92876.1 GenPept UniProtKB/Swiss-Prot:Q92876

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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