KLK7 kallikrein related peptidase 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLK7provided by HGNC
Official Full Name: kallikrein related peptidase 7provided by HGNC
Primary source: HGNC:HGNC:6368
See related: Ensembl:ENSG00000169035 MIM:604438; AllianceGenome:HGNC:6368
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: hK7; SCCE; PRSS6
Summary: This gene encodes a member of the kallikrein subfamily of serine proteases. These enzymes have diverse physiological functions and many kallikrein genes are biomarkers for cancer. The encoded protein has chymotrypsin-like activity and plays a role in the proteolysis of intercellular cohesive structures that precedes desquamation, the shedding of the outermost layer of the epidermis. The encoded protein may play a role in cancer invasion and metastasis, and increased expression of this gene is associated with unfavorable prognosis and progression of several types of cancer. Polymorphisms in this gene may play a role in the development of atopic dermatitis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is one of fifteen kallikrein subfamily members located in a gene cluster on chromosome 19. [provided by RefSeq, May 2011]
Expression: Biased expression in skin (RPKM 68.1) and esophagus (RPKM 25.3) See more
Orthologs: mouse 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 (50976468..50984064, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (54064867..54072534, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (51479724..51487320, 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?

Increase of KLK7, cytokeratin 5/6, and elafin expression in head and neck squamous cell carcinoma compared with lung squamous cell carcinoma.
Title: Increase of KLK7, cytokeratin 5/6, and elafin expression in head and neck squamous cell carcinoma compared with lung squamous cell carcinoma.
The Role of Kallikrein 7 in Tumorigenesis.
Title: The Role of Kallikrein 7 in Tumorigenesis.
Identification of MFGE8 and KLK5/7 as mediators of breast tumorigenesis and resistance to COX-2 inhibition.
Title: Identification of MFGE8 and KLK5/7 as mediators of breast tumorigenesis and resistance to COX-2 inhibition.
EGR-1 acts as a transcriptional activator of KLK7 under IL-13 stimulation.
Title: EGR-1 acts as a transcriptional activator of KLK7 under IL-13 stimulation.
Extracellular acidityinduced expression of Kallikreinrelated peptidases 7 and 8 is involved in increased invasiveness of gastric cancer cells.
Title: Extracellular acidity‑induced expression of Kallikrein‑related peptidases 7 and 8 is involved in increased invasiveness of gastric cancer cells.
Kallikrein 7 Promotes Atopic Dermatitis-Associated Itch Independently of Skin Inflammation.
Title: Kallikrein 7 Promotes Atopic Dermatitis-Associated Itch Independently of Skin Inflammation.
Biochemical validation supports a role for KLK7 in directly activating pro-MMP10, hydrolysis of IGFBP6 and cleavage of thrombospondin 1 with generation of a potentially bioactive N-terminal fragment.
Title: Integration of Two In-depth Quantitative Proteomics Approaches Determines the Kallikrein-related Peptidase 7 (KLK7) Degradome in Ovarian Cancer Cell Secretome.
KLK7 accelerated the deterioration of PTC in vitro experiments which could be reversed by sh-lnc RNA NEAT1 and miR-129-5p mimics. In vivo experiments, silence of lncRNA NEAT1 restrain tumor growth in weight and volume.
Title: Long noncoding RNA NEAT1 regulate papillary thyroid cancer progression by modulating miR-129-5p/KLK7 expression.
Structures of BbKI complexed with the catalytic domain of human plasma kallikrein were modeled, as well as those with KLK4 and KLK7, and the structures were analyzed in order to identify the interactions that are responsible for inhibitory potency.
Title: Crystal structures of the complex of a kallikrein inhibitor from Bauhinia bauhinioides with trypsin and modeling of kallikrein complexes.
results demonstrate that aberrant KLK7 expression leads to a switch to a more malignant phenotype suggesting a potential role of KLK7 in melanoma invasion; KLK7 may represent a biomarker for melanoma progression and may be a potential therapeutic target for melanoma
Title: Kallikrein-related peptidase 7 overexpression in melanoma cells modulates cell adhesion leading to a malignant phenotype.

Submit: New GeneRIF Correction See all GeneRIFs (65)

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

KLK7_7860 (e-PCR)
- UniSTS:466260

D19S1082 (e-PCR)
- UniSTS:19428

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metalloendopeptidase activity	TAS Traceable Author Statement more info
enables peptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type peptidase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in epidermis development	TAS Traceable Author Statement more info	PubMed
involved_in extracellular matrix disassembly	TAS Traceable Author Statement more info
involved_in positive regulation of antibacterial peptide production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cornified envelope	IEA Inferred from Electronic Annotation more info
located_in epidermal lamellar body	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in secretory granule	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: kallikrein-7

Names: kallikrein 7 (chymotryptic, stratum corneum); serine protease 6; signal protein; stratum corneum chymotryptic enzyme

NP_001193982.1

EC 3.4.21.117

NP_001230055.1

EC 3.4.21.117

NP_005037.1

EC 3.4.21.117

NP_644806.1

EC 3.4.21.117

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.

mRNA and Protein(s)

NM_001207053.2 → NP_001193982.1 kallikrein-7 isoform 2

See identical proteins and their annotated locations for NP_001193982.1

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 a downstream, in-frame start site, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC011483, AF411214, AF411215, AI049783

Consensus CDS

CCDS59414.1

UniProtKB/Swiss-Prot

P49862

Related

ENSP00000469950.1, ENST00000597707.5

Conserved Domains (1) summary

smart00020
Location:2 → 173

Tryp_SPc; Trypsin-like serine protease
NM_001243126.1 → NP_001230055.1 kallikrein-7 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate upstream start codon compared to variant 1. The 5' CDS is in a different reading frame, but this variant lacks an exon in the coding region which results in a frameshift and in-frame 3' CDS, compared to variant 1. The encoded isoform (3) has a unique N-terminus and is shorter than isoform 1.

Source sequence(s)

AC011483, AF411214, AI049783, AK295313

UniProtKB/Swiss-Prot

P49862

UniProtKB/TrEMBL

B4DHX9

Conserved Domains (2) summary

smart00020
Location:64 → 238

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:64 → 241

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 ...
NM_005046.4 → NP_005037.1 kallikrein-7 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_005037.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform.

Source sequence(s)

AC011483, AF411214, AI049783

Consensus CDS

CCDS12812.1

UniProtKB/Swiss-Prot

A8K0U5, P49862, Q8N5N9, Q8NFV7

UniProtKB/TrEMBL

A0A024R4H6, B8K1J4

Related

ENSP00000470538.1, ENST00000595820.6

Conserved Domains (1) summary

smart00020
Location:29 → 245

Tryp_SPc; Trypsin-like serine protease
NM_139277.2 → NP_644806.1 kallikrein-7 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_644806.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AA101043, AC011483, AF411214, AI049783, AY601109

Consensus CDS

CCDS12812.1

UniProtKB/Swiss-Prot

A8K0U5, P49862, Q8N5N9, Q8NFV7

UniProtKB/TrEMBL

A0A024R4H6, B8K1J4

Related

ENSP00000375683.1, ENST00000391807.5

Conserved Domains (1) summary

smart00020
Location:29 → 245

Tryp_SPc; Trypsin-like serine protease