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

Gene ID: 5653, updated on 7-Dec-2018

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
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

Genomic context

See KLK6 in Genome Data Viewer
Location:
19q13.41
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (50958631..50969673, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51461887..51472929, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase A pseudogene 59 Neighboring gene kallikrein related peptidase 5 Neighboring gene uncharacterized LOC105372442 Neighboring gene kallikrein related peptidase 7 Neighboring gene kallikrein related peptidase 8

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC9355

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_011825.1 RefSeqGene

    Range
    5001..16044
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001012964.2NP_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, AY318867, BC015525, BP253007
    Consensus CDS
    CCDS12811.1
    UniProtKB/Swiss-Prot
    Q92876
    UniProtKB/TrEMBL
    A0A024R4J8
    Related
    ENSP00000366047.2, ENST00000376851.7
    Conserved Domains (1) summary
    smart00020
    Location:23237
    Tryp_SPc; Trypsin-like serine protease
  2. NM_001012965.2NP_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, AY318870, BC015525, BP253007
    Consensus CDS
    CCDS42599.1
    UniProtKB/Swiss-Prot
    Q92876
    Related
    ENSP00000375684.1, ENST00000391808.5
    Conserved Domains (1) summary
    smart00020
    Location:1130
    Tryp_SPc; Trypsin-like serine protease
  3. NM_001319948.1NP_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)
    AY279383, BC015525
    Consensus CDS
    CCDS42599.1
    UniProtKB/Swiss-Prot
    Q92876
    Conserved Domains (1) summary
    smart00020
    Location:1130
    Tryp_SPc; Trypsin-like serine protease
  4. NM_001319949.1NP_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, AY318868, BC015525, BP253007
    Consensus CDS
    CCDS42599.1
    UniProtKB/Swiss-Prot
    Q92876
    Conserved Domains (1) summary
    smart00020
    Location:1130
    Tryp_SPc; Trypsin-like serine protease
  5. NM_002774.4NP_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
    Q92876
    UniProtKB/TrEMBL
    A0A024R4J8
    Related
    ENSP00000309148.1, ENST00000310157.6
    Conserved Domains (1) summary
    smart00020
    Location:23237
    Tryp_SPc; Trypsin-like serine protease

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    50958631..50969673 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    smart00020
    Location:1130
    Tryp_SPc; Trypsin-like serine protease
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