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Reviewed, UniProtKB/Swiss-Prot Q9Y5K2 (KLK4_HUMAN)

Last modified January 19, 2010. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Kallikrein-4
    EC=3.4.21.-
Alternative name(s):
    Prostase
    Kallikrein-like protein 1
      Short name=KLK-L1
    Enamel matrix serine proteinase 1
    Serine protease 17
Gene names
Name: KLK4
Synonyms: EMSP1, PRSS17, PSTS
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length254 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

General annotation (Comments)

Subcellular location

Secreted.

Tissue specificity

Expressed in prostate.

Involvement in disease

Defects in KLK4 are the cause of amelogenesis imperfecta hypomaturation type 2A1 (AI2A1) [MIM:204700]. AI2A1 is an autosomal recessive 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. Ref.11

Sequence similarities

Belongs to the peptidase S1 family. Kallikrein subfamily.

Contains 1 peptidase S1 domain.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityPolymorphism
   DiseaseAmelogenesis imperfecta
   DomainSignal
   LigandMetal-binding
Zinc
   Molecular functionHydrolase
Protease
Serine protease
   PTMDisulfide bond
Glycoprotein
Zymogen
   Technical term3D-structure
Complete proteome
Direct protein sequencing
Gene Ontology (GO)
   Biological processproteolysis Ref.3

Non-traceable author statement. Source: UniProtKB

   Cellular componentextracellular region Ref.1

Traceable author statement. Source: ProtInc

   Molecular functionserine-type endopeptidase activity

Inferred from electronic annotation. Source: InterPro

zinc ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2626 Potential
Propeptide27 – 304 Potential
PRO_0000027937
Chain31 – 254224Kallikrein-4
PRO_0000027938

Regions

Domain31 – 252222Peptidase S1

Sites

Active site711Charge relay system Ref.10
Active site1161Charge relay system Ref.10
Active site2071Charge relay system Ref.10
Metal binding401Zinc
Metal binding911Zinc

Amino acid modifications

Glycosylation1691N-linked (GlcNAc...) Potential
Disulfide bond37 ↔ 167 Ref.10
Disulfide bond56 ↔ 72 Ref.10
Disulfide bond141 ↔ 241 Ref.10
Disulfide bond148 ↔ 213 Ref.10
Disulfide bond178 ↔ 192 Ref.10
Disulfide bond203 ↔ 228 Ref.10

Natural variations

Natural variant221S → A: dbSNP rs1654551. Ref.11
VAR_028364
Natural variant1591G → D: dbSNP rs34626614.
VAR_033009
Natural variant1971Q → H: dbSNP rs2569527. Ref.1 Ref.4
VAR_028365

Secondary structure

......................................... 254
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9Y5K2-1 [UniParc].

Last modified November 1, 1999. Version 1.
Checksum: 9C475E22B6EE0CB8

FASTA25427,023
        10         20         30         40         50         60 
MATAGNPWGW FLGYLILGVA GSLVSGSCSQ IINGEDCSPH SQPWQAALVM ENELFCSGVL 

        70         80         90        100        110        120 
VHPQWVLSAA HCFQNSYTIG LGLHSLEADQ EPGSQMVEAS LSVRHPEYNR PLLANDLMLI 

       130        140        150        160        170        180 
KLDESVSESD TIRSISIASQ CPTAGNSCLV SGWGLLANGR MPTVLQCVNV SVVSEEVCSK 

       190        200        210        220        230        240 
LYDPLYHPSM FCAGGGQDQK DSCNGDSGGP LICNGYLQGL VSFGKAPCGQ VGVPGVYTNL 

       250 
CKFTEWIEKT VQAS 

« Hide

References

« Hide 'large scale' references
[1]"Molecular cloning and characterization of prostase, an androgen-regulated serine protease with prostate-restricted expression."
Nelson P.S., Gan L., Ferguson C., Moss P., Gelinas R., Hood L., Wang K.
Proc. Natl. Acad. Sci. U.S.A. 96:3114-3119(1999) [PubMed: 10077646] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT HIS-197.
[2]"Prostase/KLK-L1 is a new member of the human kallikrein gene family, is expressed in prostate and breast tissues, and is hormonally regulated."
Yousef G.M., Obiezu C.V., Luo L.-Y., Black M.H., Diamandis E.P.
Cancer Res. 59:4252-4256(1999) [PubMed: 10485467] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[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."
Stephenson S.A., Verity K., Ashworth L.K., Clements J.A.
J. Biol. Chem. 274:23210-23214(1999) [PubMed: 10438493] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]"Sequencing and expression analysis of the serine protease gene cluster located in chromosome 19q13 region."
Gan L., Lee I., Smith R., Argonza-Barrett R., Lei H., McCuaig J., Moss P., Paeper B., Wang K.
Gene 257:119-130(2000) [PubMed: 11054574] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT HIS-197.
[5]"Characterization of the mouse and human PRSS17 genes, their relationship to other serine proteases, and the expression of PRSS17 in developing mouse incisors."
Hu J.C.-C., Zhang C., Sun X., Yang Y., Cao X., Ryu O., Simmer J.P.
Gene 251:1-8(2000) [PubMed: 10863090] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], CHARACTERIZATION.
[6]Korkmaz K.S., Korkmaz C.G., Saatcioglu F.
Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Prostatic carcinoma.
[7]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed: 15057824] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[9]"Cloning and characterization of a cDNA encoding human EMSP1."
Simmer J.P., Ryu O.H., Qian Q., Zhang C., Cao X., Sun X., Hu C.-C.
(In) Goldberg M. (eds.); Chemistry and biology of mineralized tissues, pp.1-1, American Academy of Orthopaedic Surgeons, Vittel (2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 22-254.
[10]"Crystal structures of human tissue kallikrein 4: activity modulation by a specific zinc binding site."
Debela M., Magdolen V., Grimminger V., Sommerhoff C., Messerschmidt A., Huber R., Friedrich R., Bode W., Goettig P.
J. Mol. Biol. 362:1094-1107(2006) [PubMed: 16950394] [Abstract]
Cited for: PROTEIN SEQUENCE OF 31-35, X-RAY CRYSTALLOGRAPHY (1.95 ANGSTROMS) OF 31-253, ACTIVE SITE, ZINC-BINDING SITES, DISULFIDE BONDS.
[11]"Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta."
Hart P.S., Hart T.C., Michalec M.D., Ryu O.H., Simmons D., Hong S., Wright J.T.
J. Med. Genet. 41:545-549(2004) [PubMed: 15235027] [Abstract]
Cited for: INVOLVEMENT IN AI2A1, VARIANT ALA-22.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF113140 mRNA. Translation: AAD21580.1.
AF113141 Genomic DNA. Translation: AAD21581.1.
AF135023 Genomic DNA. Translation: AAD26424.2.
AF148532 Genomic DNA. Translation: AAD38019.1.
AF243527 Genomic DNA. Translation: AAG33357.1.
AF228497 Genomic DNA. Translation: AAF70620.1.
AF259969 mRNA. Translation: AAF81227.1.
AC037199 Genomic DNA. No translation available.
BC069325 mRNA. Translation: AAH69325.1.
BC069403 mRNA. Translation: AAH69403.1.
BC069429 mRNA. Translation: AAH69429.1.
BC069489 mRNA. Translation: AAH69489.1.
BC096175 mRNA. Translation: AAH96175.1.
BC096178 mRNA. Translation: AAH96178.1.
AF126401 mRNA. Translation: AAG43246.1.
IPIIPI00001559.
RefSeqNP_004908.3.
UniGeneHs.218366

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2BDGX-ray1.95A/B31-253[»]
2BDHX-ray3.00A/B/C/D31-253[»]
2BDIX-ray3.00A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P31-253[»]
ModBaseSearch...

Protein-protein interaction databases

STRINGQ9Y5K2.

Genome annotation databases

EnsemblENST00000324041; ENSP00000326159; ENSG00000167749; Homo sapiens. [Genome view]
GeneID9622.
KEGGhsa:9622.

Organism-specific databases

CTD9622.
GeneCardsGC19M056101.
HGNCHGNC:6365. KLK4.
MIM204700. phenotype.
603767. gene.
Orphanet88661. Amelogenesis imperfecta.
100033. Amelogenesis imperfecta, hypomaturation type.
PharmGKBPA30154.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG20294.
HOGENOMHBG755338.
HOVERGENQ9Y5K2.
InParanoidQ9Y5K2.

Gene expression databases

ArrayExpressQ9Y5K2.
BgeeQ9Y5K2.
CleanExHS_KLK4.
GenevestigatorQ9Y5K2.
GermOnlineENSG00000167749. Homo sapiens.

Family and domain databases

InterProIPR018114. Peptidase_S1/S6_AS.
IPR001254. Peptidase_S1_S6.
IPR001314. Peptidase_S1A.
IPR009003. Ser/Cys_Pept_Trypsin-like.
[Graphical view]
PfamPF00089. Trypsin. 1 hit.
[Graphical view]
PRINTSPR00722. CHYMOTRYPSIN.
SMARTSM00020. Tryp_SPc. 1 hit.
[Graphical view]
PROSITEPS50240. TRYPSIN_DOM. 1 hit.
PS00134. TRYPSIN_HIS. 1 hit.
PS00135. TRYPSIN_SER. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio36105.
SOURCESearch...

Entry information

Entry nameKLK4_HUMAN
AccessionPrimary (citable) accession number: Q9Y5K2
Secondary accession number(s): Q4VB16, Q9GZL6, Q9UBJ6
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1999
Last modified: January 19, 2010
This is version 89 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

Peptidase families

Classification of peptidase families and list of entries

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents