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

Summary

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

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Molecular Pathways Associated with Kallikrein 6 Overexpression in Colorectal Cancer.
Title: Molecular Pathways Associated with Kallikrein 6 Overexpression in Colorectal Cancer.
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.
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.
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.
previously unknown pathways implicating KLK6 in breast cancer, are reported.
Title: Biochemical pathways mediated by KLK6 protease in breast cancer.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-82735 (e-PCR)
- UniSTS:95754

WI-20869 (e-PCR)
- UniSTS:19022

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 more info	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

NG_011825.2 RefSeqGene

Range

5000..15960

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

50958631..50969591 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

smart00020
Location:1 → 130

Tryp_SPc; Trypsin-like serine protease