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Q9Y5K2 (KLK4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Kallikrein-4

EC=3.4.21.-
Alternative name(s):
Enamel matrix serine proteinase 1
Kallikrein-like protein 1
Short name=KLK-L1
Prostase
Serine protease 17
Gene names
Name:KLK4
Synonyms:EMSP1, PRSS17, PSTS
OrganismHomo sapiens (Human) [Reference 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)

Function

Involved in enamel formation. Ref.11

Subcellular location

Secreted.

Tissue specificity

Expressed in prostate.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11

Sequence similarities

Belongs to the peptidase S1 family. Kallikrein subfamily.

Contains 1 peptidase S1 domain.

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. Ref.11
Corresponds to variant rs1654551 [ dbSNP | Ensembl ].
VAR_028364
Natural variant1591G → D.
Corresponds to variant rs34626614 [ dbSNP | Ensembl ].
VAR_033009
Natural variant1971H → Q. Ref.2 Ref.3 Ref.5 Ref.6 Ref.8 Ref.9 Ref.10
Corresponds to variant rs2569527 [ dbSNP | Ensembl ].
VAR_028365

Secondary structure

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

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9Y5K2 [UniParc].

Last modified January 11, 2011. Version 2.
Checksum: 9C5E4722AFF70CB8

FASTA25427,032
        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 FCAGGGHDQK 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GLN-197.
[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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GLN-197.
[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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], CHARACTERIZATION, VARIANT GLN-197.
[6]Korkmaz K.S., Korkmaz C.G., Saatcioglu F.
Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLN-197.
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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-197.
[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, VARIANT GLN-197.
[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] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 31-35, X-RAY CRYSTALLOGRAPHY (1.95 ANGSTROMS) OF 31-253, ACTIVE SITE, ZINC-BINDING SITES, DISULFIDE BONDS, VARIANT GLN-197.
[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] [Europe PMC] [Abstract]
Cited for: FUNCTION, 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.
CCDSCCDS12809.1.
RefSeqNP_004908.3. NM_004917.3.
UniGeneHs.218366.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2BDGX-ray1.95A/B31-247[»]
2BDHX-ray3.00A/B/C/D31-247[»]
2BDIX-ray3.00A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P31-247[»]
4K1EX-ray1.30A31-253[»]
4K8YX-ray1.00A31-253[»]
4KELX-ray1.15A31-253[»]
4KGAX-ray2.32A/B31-253[»]
ProteinModelPortalQ9Y5K2.
SMRQ9Y5K2. Positions 31-253.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114982. 1 interaction.
STRING9606.ENSP00000326159.

Chemistry

BindingDBQ9Y5K2.
ChEMBLCHEMBL4446.

Protein family/group databases

MEROPSS01.251.

Polymorphism databases

DMDM317373372.

Proteomic databases

PaxDbQ9Y5K2.
PRIDEQ9Y5K2.

Protocols and materials databases

DNASU9622.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000324041; ENSP00000326159; ENSG00000167749.
GeneID9622.
KEGGhsa:9622.
UCSCuc002pua.1. human.

Organism-specific databases

CTD9622.
GeneCardsGC19M051409.
H-InvDBHIX0039968.
HGNCHGNC:6365. KLK4.
HPAHPA051839.
MIM204700. phenotype.
603767. gene.
neXtProtNX_Q9Y5K2.
Orphanet100033. Hypomaturation amelogenesis imperfecta.
PharmGKBPA30154.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5640.
HOGENOMHOG000251820.
HOVERGENHBG013304.
InParanoidQ9Y5K2.
KOK08666.
OMALCKFTDW.
OrthoDBEOG75B84T.
PhylomeDBQ9Y5K2.
TreeFamTF331065.

Gene expression databases

ArrayExpressQ9Y5K2.
BgeeQ9Y5K2.
CleanExHS_KLK4.
GenevestigatorQ9Y5K2.

Family and domain databases

InterProIPR001254. Peptidase_S1.
IPR018114. Peptidase_S1_AS.
IPR001314. Peptidase_S1A.
IPR009003. Trypsin-like_Pept_dom.
[Graphical view]
PfamPF00089. Trypsin. 1 hit.
[Graphical view]
PRINTSPR00722. CHYMOTRYPSIN.
SMARTSM00020. Tryp_SPc. 1 hit.
[Graphical view]
SUPFAMSSF50494. SSF50494. 1 hit.
PROSITEPS50240. TRYPSIN_DOM. 1 hit.
PS00134. TRYPSIN_HIS. 1 hit.
PS00135. TRYPSIN_SER. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ9Y5K2.
GeneWikiKLK4.
GenomeRNAi9622.
NextBio36105.
PROQ9Y5K2.
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: January 11, 2011
Last modified: July 9, 2014
This is version 125 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
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

SIMILARITY comments

Index of protein domains and families

Peptidase families

Classification of peptidase families and list of entries

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

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