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    KLK4 kallikrein related peptidase 4 [ Homo sapiens (human) ]

    Gene ID: 9622, updated on 9-Dec-2024

    Summary

    Official Symbol
    KLK4provided by HGNC
    Official Full Name
    kallikrein related peptidase 4provided by HGNC
    Primary source
    HGNC:HGNC:6365
    See related
    Ensembl:ENSG00000167749 MIM:603767; AllianceGenome:HGNC:6365
    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
    ARM1; EMSP; PSTS; AI2A1; EMSP1; KLK-L1; PRSS17; kallikrein
    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 a cluster on chromosome 19. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Several transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Dec 2014]
    Expression
    Restricted expression toward prostate (RPKM 123.8) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See KLK4 in Genome Data Viewer
    Location:
    19q13.41
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50906351..50911395, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53994435..53999407, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51409607..51414651, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene KLK2 upstream enhancer/promoter region Neighboring gene kallikrein related peptidase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15005 Neighboring gene kallikrein pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15007 Neighboring gene peptidylprolyl isomerase A pseudogene 59 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:51442294-51442457 Neighboring gene uncharacterized LOC105372442 Neighboring gene kallikrein related peptidase 5

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Amelogenesis imperfecta type 2A1
    MedGen: C2673922 OMIM: 204700 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120-treated vaginal epithelial cells show downregulation of kallikrein-related peptidase 4 (KLK4) expression as compared to untreated control PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC116827, MGC116828

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables serine-type peptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in amelogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in amelogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in biomineral tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extracellular matrix disassembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in secretory granule IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    kallikrein-4
    Names
    androgen-regulated message 1
    enamel matrix serine protease 1
    enamel matrix serine proteinase 1
    kallikrein-like protein 1
    prostase
    serine protease 17

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012154.2 RefSeqGene

      Range
      4344..9388
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001302961.2NP_001289890.1  kallikrein-4 isoform 2

      See identical proteins and their annotated locations for NP_001289890.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' end, which results in a frameshift, compared to variant 1. It encodes isoform 2, which is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AC011483, AF113140, AF259969, AY923170
      UniProtKB/Swiss-Prot
      Q9Y5K2
      UniProtKB/TrEMBL
      Q5BQA0
      Conserved Domains (2) summary
      smart00020
      Location:1152
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:1155
      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_004917.5NP_004908.4  kallikrein-4 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_004908.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC011483, AF113140, BC069403, CA425532
      Consensus CDS
      CCDS12809.1
      UniProtKB/Swiss-Prot
      Q4VB16, Q96RU5, Q9GZL6, Q9UBJ6, Q9Y5K2
      UniProtKB/TrEMBL
      A0A0C4DFQ5, Q4VB17
      Related
      ENSP00000326159.1, ENST00000324041.6
      Conserved Domains (1) summary
      cd00190
      Location:31250
      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 ...

    RNA

    1. NR_126566.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses two alternate splice junctions compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC011483, AF113140, BC096176

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      50906351..50911395 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527545.4XP_011525847.1  kallikrein-4 isoform X1

      UniProtKB/TrEMBL
      Q96PT1
      Conserved Domains (2) summary
      smart00020
      Location:31162
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:31159
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      53994435..53999407 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)