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

Gene ID: 11202, updated on 11-Sep-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
109.20190905 current GRCh38.p13 (GCF_000001405.39) 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 kallikrein related peptidase 7 Neighboring gene Sharpr-MPRA regulatory region 5518 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 Functions

What'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_007196.4NP_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, 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_144505.3NP_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_144506.3NP_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, 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_104008.2 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, AY359036

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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