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

Gene ID: 9622, updated on 12-Oct-2019

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
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

Genomic context

See KLK4 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 (50906352..50910745, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51409608..51413994, 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 kallikrein pseudogene 1 Neighboring gene peptidylprolyl isomerase A pseudogene 59 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, hypomaturation type, IIA1
MedGen: C2673922 OMIM: 204700 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC116827, MGC116828

Gene Ontology Provided by GOA

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

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)

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
    5001..9387
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001302961.1NP_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)
    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_004917.4NP_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)
    AF113140, BC069403
    Consensus CDS
    CCDS12809.1
    UniProtKB/Swiss-Prot
    Q9Y5K2
    UniProtKB/TrEMBL
    A0A0C4DFQ5
    Related
    ENSP00000326159.1, ENST00000324041.5
    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_126566.1 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)
    AF113140, BC096176

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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
    50906352..50910745 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259441.4XP_005259498.2  kallikrein-4 isoform X2

    See identical proteins and their annotated locations for XP_005259498.2

    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. XM_011527546.2XP_011525848.1  kallikrein-4 isoform X3

    See identical proteins and their annotated locations for XP_011525848.1

    UniProtKB/TrEMBL
    Q96PT1
    Conserved Domains (2) summary
    smart00020
    Location:31159
    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 ...
  3. XM_011527545.3XP_011525847.1  kallikrein-4 isoform X1

    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 ...
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