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    KLK8 kallikrein related peptidase 8 [ Homo sapiens (human) ]

    Gene ID: 11202, updated on 13-Feb-2019

    Summary

    Official Symbol
    KLK8provided by HGNC
    Official Full Name
    kallikrein related peptidase 8provided by HGNC
    Primary source
    HGNC:HGNC:6369
    See related
    Ensembl:ENSG00000129455 MIM:605644
    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
    NP; HNP; NRPN; PRSS19; TADG14
    Summary
    Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in tandem in a gene cluster on chromosome 19. The encoded protein may be involved in proteolytic cascade in the skin and may serve as a biomarker for ovarian cancer. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
    Annotation information
    Note: The KLK9 gene is immediately upstream of the KLK8 gene. There are a few transcripts (DQ267419, DQ267420, AY566267, and BC040887) that span the gap between these two genes and which suggest the presence of a bicistronic transcript. However, there is no published support for that, so they will continue to be represented as separate genes. [13 Feb 2013]
    Expression
    Biased expression in skin (RPKM 32.0) and esophagus (RPKM 29.8) See more
    Orthologs

    Genomic context

    See KLK8 in Genome Data Viewer
    Location:
    19q13.41
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (50996008..51001702, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51499264..51504958, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372442 Neighboring gene kallikrein related peptidase 6 Neighboring gene kallikrein related peptidase 7 Neighboring gene kallikrein related peptidase 9 Neighboring gene kallikrein related peptidase 10

    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

    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
      Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
    • Keratinization, organism-specific biosystem (from REACTOME)
      Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...
    • Spinal Cord Injury, organism-specific biosystem (from WikiPathways)
      Spinal Cord Injury, organism-specific biosystemThis pathway provides an overview of cell types, therapeutic targets, drugs, new proposed targets and pathways implicated in spinal cord injury. Spinal cord injury is a complex multistep process that...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: KLK9

    Homology

    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 
    Process Evidence Code Pubs
    cell death ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    keratinocyte proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    memory IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of axon regeneration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of myelination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron projection morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neuron projection morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of synapse organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to wounding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    synapse organization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    secretory granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    serine protease inhibitor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    kallikrein-8
    Names
    ovasin
    serine protease 19
    serine protease TADG-14
    tumor-associated differentially expressed gene 14 protein
    NP_001268360.1
    NP_009127.1
    NP_653088.1
    NP_653089.1
    NP_653090.1

    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.

    mRNA and Protein(s)

    1. NM_001281431.1NP_001268360.1  kallikrein-8 isoform 5

      See identical proteins and their annotated locations for NP_001268360.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, also known as T5) lacks an alternate exon in the 5' coding region and initiates translation at a downstream start codon, compared to variant 2. It encodes isoform 5 which is shorter at the N-terminus, compared to isoform 2. This variant is based on data in PMID: 20360129.
      Source sequence(s)
      AA587273, AB009849, AF095742, AY359036
      Consensus CDS
      CCDS74433.1
      UniProtKB/Swiss-Prot
      O60259
      UniProtKB/TrEMBL
      A0A0A0MQY9
      Related
      ENSP00000291726.8, ENST00000291726.11
      Conserved Domains (1) summary
      smart00020
      Location:1131
      Tryp_SPc; Trypsin-like serine protease
    2. NM_007196.3NP_009127.1  kallikrein-8 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_009127.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as T1) uses an alternate splice site in the 5' coding region, compared to variant 2. It encodes isoform 1, which is shorter than isoform 2.
      Source sequence(s)
      AA587273, AF095742, AY359036
      Consensus CDS
      CCDS12813.1
      UniProtKB/Swiss-Prot
      O60259
      Related
      ENSP00000472016.1, ENST00000600767.5
      Conserved Domains (1) summary
      smart00020
      Location:32252
      Tryp_SPc; Trypsin-like serine protease
    3. NM_144505.2NP_653088.1  kallikrein-8 isoform 2 precursor

      See identical proteins and their annotated locations for NP_653088.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as T2) represents the longest transcript and encodes the longest isoform (2).
      Source sequence(s)
      AA587273, AB008927, AF095742
      Consensus CDS
      CCDS42600.1
      UniProtKB/Swiss-Prot
      O60259
      Related
      ENSP00000375682.1, ENST00000391806.6
      Conserved Domains (2) summary
      smart00020
      Location:77297
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:78300
      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_144506.2NP_653089.1  kallikrein-8 isoform 3 precursor

      See identical proteins and their annotated locations for NP_653089.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as T3) lacks two alternate exons in the coding region, compared to variant 2. It encodes isoform 3, which lacks an in-frame segment and is shorter than isoform 2.
      Source sequence(s)
      AA587273, AF095742, AY359036, BM845575
      Consensus CDS
      CCDS12814.1
      UniProtKB/Swiss-Prot
      O60259
      Related
      ENSP00000341555.3, ENST00000347619.8
      Conserved Domains (1) summary
      smart00020
      Location:25111
      Tryp_SPc; Trypsin-like serine protease
    5. NM_144507.2NP_653090.1  kallikrein-8 isoform 4

      See identical proteins and their annotated locations for NP_653090.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as T4) lacks three exons in the coding region, which results in a frameshift and an early stop codon, compared to variant 2. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 2. This variant is based on data in PMID: 11309326 and 20360129.
      Source sequence(s)
      AA320217, AA587273, AF095742, AY359036
      Consensus CDS
      CCDS12815.1
      UniProtKB/Swiss-Prot
      O60259
      Related
      ENSP00000325072.5, ENST00000320838.9

    RNA

    1. NR_104008.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6, also known as T6) lacks an alternate internal exon, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). This variant is based on data in PMID: 20360129.
      Source sequence(s)
      AA587273, AB008390, AF095742, AY359036

    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
      50996008..51001702 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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