Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KLK4 Gene

Aliases for KLK4 Gene

  • Kallikrein Related Peptidase 4 2 3 5
  • Enamel Matrix Serine Proteinase 1 3 4
  • Kallikrein-Like Protein 1 3 4
  • Serine Protease 17 3 4
  • Prostase 3 4
  • PRSS17 3 4
  • KLK-L1 3 4
  • EMSP1 3 4
  • PSTS 3 4
  • Kallikrein 4 (Prostase, Enamel Matrix, Prostate) 2
  • Enamel Matrix Serine Protease 1 3
  • Androgen-Regulated Message 1 3
  • Kallikrein-4 3
  • EC 3.4.21.- 4
  • Kallikrein 3
  • EC 3.4.21 61
  • AI2A1 3
  • ARM1 3
  • EMSP 3

External Ids for KLK4 Gene

Previous HGNC Symbols for KLK4 Gene

  • PRSS17

Previous GeneCards Identifiers for KLK4 Gene

  • GC19M052036
  • GC19M051770
  • GC19M056085
  • GC19M056101
  • GC19M051409
  • GC19M047742

Summaries for KLK4 Gene

Entrez Gene Summary for KLK4 Gene

  • 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]

GeneCards Summary for KLK4 Gene

KLK4 (Kallikrein Related Peptidase 4) is a Protein Coding gene. Diseases associated with KLK4 include Amelogenesis Imperfecta, Type Iia1 and Amelogenesis Imperfecta Hypomaturation Type. Among its related pathways are Collagen biosynthesis and modifying enzymes and MSP-RON Signaling. GO annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is KLK5.

UniProtKB/Swiss-Prot for KLK4 Gene

  • Has a major role in enamel formation (PubMed:15235027). Required during the maturation stage of tooth development for clearance of enamel proteins and normal structural patterning of the crystalline matrix (By similarity).

Gene Wiki entry for KLK4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLK4 Gene

Genomics for KLK4 Gene

Regulatory Elements for KLK4 Gene

Enhancers for KLK4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F050962 0.9 FANTOM5 14.9 -51.6 -51640 0.3 DDX20 SP2 FOS TAF7 KLK4 SIGLECL1 C19orf81 KLK14 ACPT IGLON5 ETFB SYT3 ENSG00000279676 KLK5
GH19F050890 0.5 ENCODE 13.5 +19.6 19597 1.0 HDGF PKNOX1 ATF1 ARNT CREB3L1 ARID4B SIN3A YY1 GLIS2 ZNF143 KLK4 ZNF577 NUP62 LINC01869 SNORD88C C19orf48 KLK15 KLK1 SPACA6P-AS KLKP1
GH19F050931 0.5 ENCODE 12.3 -22.1 -22075 2.9 CTCF MAFG BACH1 RAD21 ARID1B ZNF316 ZNF366 NFE2L1 ZBTB33 NFE2 KLK4 KLK6 KLK2 KLK15 KLK1 LINC01869 C19orf48 SNORD88C KLK14 CTU1
GH19F050537 0.6 ENCODE 10.2 +372.9 372871 0.1 CBX3 SIN3A THRB ZNF48 ZNF2 RAD21 ZEB1 ZNF143 BCLAF1 KLF13 PRR12 ASPDH JOSD2 LRRC4B GPR32 SNORD88A SNORD88B SNORD88C NAPSA NR1H2
GH19F050535 0.5 ENCODE 10.2 +374.8 374811 0.2 GATA3 ASPDH JOSD2 LRRC4B GPR32 SNORD88C SNORD88A SNORD88B NAPSA NR1H2 C19orf48
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KLK4 on UCSC Golden Path with GeneCards custom track

Promoters for KLK4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001818577 1249 601 HDGF SP3 NR2F1 NRF1 SP2 SP1 ZBTB48 KLF9 IRF1

Genomic Location for KLK4 Gene

Chromosome:
19
Start:
50,906,352 bp from pter
End:
50,910,749 bp from pter
Size:
4,398 bases
Orientation:
Minus strand

Genomic View for KLK4 Gene

Genes around KLK4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLK4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLK4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLK4 Gene

Proteins for KLK4 Gene

  • Protein details for KLK4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5K2-KLK4_HUMAN
    Recommended name:
    Kallikrein-4
    Protein Accession:
    Q9Y5K2
    Secondary Accessions:
    • Q4VB16
    • Q96RU5
    • Q9GZL6
    • Q9UBJ6

    Protein attributes for KLK4 Gene

    Size:
    254 amino acids
    Molecular mass:
    27032 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for KLK4 Gene

    Alternative splice isoforms for KLK4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLK4 Gene

Selected DME Specific Peptides for KLK4 Gene

Q9Y5K2:
  • CNGDSGGP
  • GDSGGPL
  • WVLSAAHC
  • SGGPLIC

Post-translational modifications for KLK4 Gene

  • N-glycosylated. The N-glycan structures are of complex diantennary or triantennary type, which may be further modified with up to 2 sialic acid residues.
  • Glycosylation at Asn 169
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for KLK4 (Kallikrein 4/Prostase/EMSP1)
  • Santa Cruz Biotechnology (SCBT) Antibodies for KLK4

Domains & Families for KLK4 Gene

Gene Families for KLK4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y5K2

UniProtKB/Swiss-Prot:

KLK4_HUMAN :
  • Contains 1 peptidase S1 domain.
  • Belongs to the peptidase S1 family. Kallikrein subfamily.
Domain:
  • Contains 1 peptidase S1 domain.
Family:
  • Belongs to the peptidase S1 family. Kallikrein subfamily.
genes like me logo Genes that share domains with KLK4: view

Function for KLK4 Gene

Molecular function for KLK4 Gene

UniProtKB/Swiss-Prot Function:
Has a major role in enamel formation (PubMed:15235027). Required during the maturation stage of tooth development for clearance of enamel proteins and normal structural patterning of the crystalline matrix (By similarity).

Enzyme Numbers (IUBMB) for KLK4 Gene

Gene Ontology (GO) - Molecular Function for KLK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity NAS,TAS 10438493
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with KLK4: view
genes like me logo Genes that share phenotypes with KLK4: view

Human Phenotype Ontology for KLK4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KLK4 Gene

MGI Knock Outs for KLK4:

Animal Model Products

  • Taconic Biosciences Mouse Models for KLK4

Inhibitory RNA Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for KLK4 Gene

Localization for KLK4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLK4 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KLK4 Gene COMPARTMENTS Subcellular localization image for KLK4 gene
Compartment Confidence
extracellular 5
cytosol 2
golgi apparatus 2
lysosome 2
nucleus 2
plasma membrane 2
vacuole 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KLK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
genes like me logo Genes that share ontologies with KLK4: view

Pathways & Interactions for KLK4 Gene

genes like me logo Genes that share pathways with KLK4: view

Pathways by source for KLK4 Gene

Gene Ontology (GO) - Biological Process for KLK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis NAS 10438493
GO:0022617 extracellular matrix disassembly IEA --
GO:0030163 protein catabolic process IEA --
GO:0031214 biomineral tissue development IEA --
GO:0097186 amelogenesis IMP 15235027
genes like me logo Genes that share ontologies with KLK4: view

No data available for SIGNOR curated interactions for KLK4 Gene

Drugs & Compounds for KLK4 Gene

(3) Drugs for KLK4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with KLK4: view

Transcripts for KLK4 Gene

Unigene Clusters for KLK4 Gene

Kallikrein-related peptidase 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLK4 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c
SP1: - -
SP2: -
SP3: - -
SP4:
SP5: - - - - -
SP6: - -
SP7:
SP8: -

Relevant External Links for KLK4 Gene

GeneLoc Exon Structure for
KLK4
ECgene alternative splicing isoforms for
KLK4

Expression for KLK4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KLK4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLK4 Gene

This gene is overexpressed in Prostate (x48.1).

NURSA nuclear receptor signaling pathways regulating expression of KLK4 Gene:

KLK4

SOURCE GeneReport for Unigene cluster for KLK4 Gene:

Hs.218366

mRNA Expression by UniProt/SwissProt for KLK4 Gene:

Q9Y5K2-KLK4_HUMAN
Tissue specificity: Expressed in prostate.
genes like me logo Genes that share expression patterns with KLK4: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KLK4 Gene

Orthologs for KLK4 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KLK4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLK4 34 35
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia KLK4 34 35
  • 85.3 (n)
cow
(Bos Taurus)
Mammalia KLK4 34 35
  • 83.86 (n)
rat
(Rattus norvegicus)
Mammalia Klk4 34
  • 75.76 (n)
mouse
(Mus musculus)
Mammalia Klk4 34 16 35
  • 74.67 (n)
Species where no ortholog for KLK4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KLK4 Gene

ENSEMBL:
Gene Tree for KLK4 (if available)
TreeFam:
Gene Tree for KLK4 (if available)

Paralogs for KLK4 Gene

genes like me logo Genes that share paralogs with KLK4: view

Variants for KLK4 Gene

Sequence variations from dbSNP and Humsavar for KLK4 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs104894704 Pathogenic 50,908,596(-) TGGCT(A/G)GGGTC nc-transcript-variant, reference, stop-gained
rs786204825 Pathogenic 50,908,809(-) GCTGG(-/G)CCTGC nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime
rs1654552 Benign 50,909,410(-) GGATC(G/T)CTCGT intron-variant, upstream-variant-2KB, reference, synonymous-codon, utr-variant-5-prime
rs73042387 Benign 50,906,915(+) TTCAT(A/G)GGTTC nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs111577290 -- 50,907,812(+) CTGGT(G/T)TGAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KLK4 Gene

Variant ID Type Subtype PubMed ID
esv1633192 CNV deletion 17803354
esv3583473 CNV loss 25503493
nsv1140251 OTHER inversion 24896259

Variation tolerance for KLK4 Gene

Residual Variation Intolerance Score: 58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.05; 60.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLK4 Gene

Human Gene Mutation Database (HGMD)
KLK4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLK4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLK4 Gene

Disorders for KLK4 Gene

MalaCards: The human disease database

(16) MalaCards diseases for KLK4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type iia1
  • amelogenesis imperfecta hypomineralization type
amelogenesis imperfecta hypomaturation type
  • aih
amelogenesis imperfecta
  • ai
parotid disease
  • parotid diseases
spermatocele
- elite association - COSMIC cancer census association via MalaCards
Search KLK4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KLK4_HUMAN
  • Amelogenesis imperfecta, hypomaturation type, 2A1 (AI2A1) [MIM:204700]: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. {ECO:0000269 PubMed:15235027}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KLK4

Genetic Association Database (GAD)
KLK4
Human Genome Epidemiology (HuGE) Navigator
KLK4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLK4
genes like me logo Genes that share disorders with KLK4: view

No data available for Genatlas for KLK4 Gene

Publications for KLK4 Gene

  1. Characterization of the mouse and human PRSS17 genes, their relationship to other serine proteases, and the expression of PRSS17 in developing mouse incisors. (PMID: 10863090) Hu J.C.-C. … Simmer J.P. (Gene 2000) 2 3 4 22 64
  2. Molecular cloning and characterization of prostase, an androgen- regulated serine protease with prostate-restricted expression. (PMID: 10077646) Nelson P.S. … Wang K. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 22 64
  3. Localization of a new prostate-specific antigen-related serine protease gene, KLK4, is evidence for an expanded human kallikrein gene family cluster on chromosome 19q13.3-13.4. (PMID: 10438493) Stephenson S.A. … Clements J.A. (J. Biol. Chem. 1999) 2 3 4 22 64
  4. Candidate gene approach evaluates association between innate immunity genes and breast cancer risk in Korean women. (PMID: 19372141) Lee J.Y. … Kang D. (Carcinogenesis 2009) 3 22 46 64
  5. Distinctly different gene structure of KLK4/KLK-L1/prostase/ARM1 compared with other members of the kallikrein family: intracellular localization, alternative cDNA forms, and Regulation by multiple hormones. (PMID: 11506707) Korkmaz K.S. … Saatcioglu F. (DNA Cell Biol. 2001) 3 4 22 64

Products for KLK4 Gene

Sources for KLK4 Gene

Content
Loading form....