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

    Gene ID: 5653, updated on 3-Jul-2016
    Official Symbol
    KLK6provided by HGNC
    Official Full Name
    kallikrein related peptidase 6provided by HGNC
    Primary source
    HGNC:HGNC:6367
    See related
    Ensembl:ENSG00000167755 HPRD:04037; MIM:602652; Vega:OTTHUMG00000183098
    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]
    Orthologs
    Location:
    19q13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 peptidyl-prolyl cis-trans isomerase A pseudogene Neighboring gene kallikrein related peptidase 5 Neighboring gene uncharacterized LOC105372442 Neighboring gene kallikrein related peptidase 7 Neighboring gene kallikrein related peptidase 8

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    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 
    neuron death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of G-protein coupled receptor protein signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein autoprocessing NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intercellular bridge IDA
    Inferred from Direct Assay
    more info
     
    microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    kallikrein-6
    Names
    kallikrein 6
    neurosin
    protease M
    serine protease 18
    serine protease 9
    zyme

    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, OTTHUMP00000270835, ENST00000376851, OTTHUMT00000465060
      Conserved Domains (2) summary
      smart00020
      Location:23237
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:23240
      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_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, ENST00000391808
      Conserved Domains (2) summary
      smart00020
      Location:1130
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:1133
      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_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
      UniProtKB/Swiss-Prot
      Q92876
      Conserved Domains (2) summary
      smart00020
      Location:1130
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:1133
      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 ...
    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
      UniProtKB/Swiss-Prot
      Q92876
      Conserved Domains (2) summary
      smart00020
      Location:1130
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:1133
      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 ...
    5. NM_002774.3NP_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)
      AY279383, AY457039, BC015525
      Consensus CDS
      CCDS12811.1
      UniProtKB/Swiss-Prot
      Q92876
      UniProtKB/TrEMBL
      A0A024R4J8
      Related
      ENSP00000309148, OTTHUMP00000270836, ENST00000310157, OTTHUMT00000465061
      Conserved Domains (2) summary
      smart00020
      Location:23237
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:23240
      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 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      51463632..51474713 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)