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Q9Y5K2

- KLK4_HUMAN

UniProt

Q9Y5K2 - KLK4_HUMAN

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Protein
Kallikrein-4
Gene
KLK4, EMSP1, PRSS17, PSTS
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Involved in enamel formation.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi40 – 401Zinc
Active sitei71 – 711Charge relay system1 Publication
Metal bindingi91 – 911Zinc
Active sitei116 – 1161Charge relay system1 Publication
Active sitei207 – 2071Charge relay system1 Publication

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
  2. serine-type endopeptidase activity Source: InterPro
  3. serine-type peptidase activity Source: UniProtKB

GO - Biological processi

  1. amelogenesis Source: UniProtKB
  2. proteolysis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease, Serine protease

Keywords - Ligandi

Metal-binding, Zinc

Protein family/group databases

MEROPSiS01.251.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:KLK4
Synonyms:EMSP1, PRSS17, PSTS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:6365. KLK4.

Subcellular locationi

GO - Cellular componenti

  1. extracellular region Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Keywords - Diseasei

Amelogenesis imperfecta

Organism-specific databases

MIMi204700. phenotype.
Orphaneti100033. Hypomaturation amelogenesis imperfecta.
PharmGKBiPA30154.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626 Reviewed prediction
Add
BLAST
Propeptidei27 – 304 Reviewed prediction
PRO_0000027937
Chaini31 – 254224Kallikrein-4
PRO_0000027938Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi37 ↔ 1671 Publication
Disulfide bondi56 ↔ 721 Publication
Disulfide bondi141 ↔ 2411 Publication
Disulfide bondi148 ↔ 2131 Publication
Glycosylationi169 – 1691N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi178 ↔ 1921 Publication
Disulfide bondi203 ↔ 2281 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

PaxDbiQ9Y5K2.
PRIDEiQ9Y5K2.

Expressioni

Tissue specificityi

Expressed in prostate.

Gene expression databases

ArrayExpressiQ9Y5K2.
BgeeiQ9Y5K2.
CleanExiHS_KLK4.
GenevestigatoriQ9Y5K2.

Organism-specific databases

HPAiHPA051839.

Interactioni

Protein-protein interaction databases

BioGridi114982. 1 interaction.
STRINGi9606.ENSP00000326159.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi45 – 506
Beta strandi53 – 6210
Beta strandi65 – 684
Helixi70 – 723
Beta strandi75 – 828
Beta strandi84 – 863
Helixi88 – 903
Beta strandi95 – 995
Beta strandi101 – 1044
Turni106 – 1094
Beta strandi118 – 1214
Beta strandi130 – 1323
Beta strandi147 – 1548
Beta strandi157 – 1604
Beta strandi166 – 1727
Helixi175 – 1828
Turni183 – 1853
Beta strandi190 – 1934
Beta strandi210 – 2134
Beta strandi216 – 22712
Beta strandi235 – 2395
Helixi240 – 2423
Helixi244 – 2529

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
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[»]
ProteinModelPortaliQ9Y5K2.
SMRiQ9Y5K2. Positions 31-253.

Miscellaneous databases

EvolutionaryTraceiQ9Y5K2.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini31 – 252222Peptidase S1
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG5640.
HOGENOMiHOG000251820.
HOVERGENiHBG013304.
InParanoidiQ9Y5K2.
KOiK08666.
OMAiLCKFTDW.
OrthoDBiEOG75B84T.
PhylomeDBiQ9Y5K2.
TreeFamiTF331065.

Family and domain databases

InterProiIPR001254. Peptidase_S1.
IPR018114. Peptidase_S1_AS.
IPR001314. Peptidase_S1A.
IPR009003. Trypsin-like_Pept_dom.
[Graphical view]
PfamiPF00089. Trypsin. 1 hit.
[Graphical view]
PRINTSiPR00722. CHYMOTRYPSIN.
SMARTiSM00020. Tryp_SPc. 1 hit.
[Graphical view]
SUPFAMiSSF50494. SSF50494. 1 hit.
PROSITEiPS50240. TRYPSIN_DOM. 1 hit.
PS00134. TRYPSIN_HIS. 1 hit.
PS00135. TRYPSIN_SER. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9Y5K2-1 [UniParc]FASTAAdd to Basket

« Hide

MATAGNPWGW FLGYLILGVA GSLVSGSCSQ IINGEDCSPH SQPWQAALVM    50
ENELFCSGVL VHPQWVLSAA HCFQNSYTIG LGLHSLEADQ EPGSQMVEAS 100
LSVRHPEYNR PLLANDLMLI KLDESVSESD TIRSISIASQ CPTAGNSCLV 150
SGWGLLANGR MPTVLQCVNV SVVSEEVCSK LYDPLYHPSM FCAGGGHDQK 200
DSCNGDSGGP LICNGYLQGL VSFGKAPCGQ VGVPGVYTNL CKFTEWIEKT 250
VQAS 254
Length:254
Mass (Da):27,032
Last modified:January 11, 2011 - v2
Checksum:i9C5E4722AFF70CB8
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221S → A.1 Publication
Corresponds to variant rs1654551 [ dbSNP | Ensembl ].
VAR_028364
Natural varianti159 – 1591G → D.
Corresponds to variant rs34626614 [ dbSNP | Ensembl ].
VAR_033009
Natural varianti197 – 1971H → Q.7 Publications
Corresponds to variant rs2569527 [ dbSNP | Ensembl ].
VAR_028365

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS12809.1.
RefSeqiNP_004908.3. NM_004917.3.
UniGeneiHs.218366.

Genome annotation databases

EnsembliENST00000324041; ENSP00000326159; ENSG00000167749.
GeneIDi9622.
KEGGihsa:9622.
UCSCiuc002pua.1. human.

Polymorphism databases

DMDMi317373372.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS12809.1.
RefSeqi NP_004908.3. NM_004917.3.
UniGenei Hs.218366.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2BDG X-ray 1.95 A/B 31-247 [» ]
2BDH X-ray 3.00 A/B/C/D 31-247 [» ]
2BDI X-ray 3.00 A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P 31-247 [» ]
4K1E X-ray 1.30 A 31-253 [» ]
4K8Y X-ray 1.00 A 31-253 [» ]
4KEL X-ray 1.15 A 31-253 [» ]
4KGA X-ray 2.32 A/B 31-253 [» ]
ProteinModelPortali Q9Y5K2.
SMRi Q9Y5K2. Positions 31-253.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114982. 1 interaction.
STRINGi 9606.ENSP00000326159.

Chemistry

BindingDBi Q9Y5K2.
ChEMBLi CHEMBL4446.

Protein family/group databases

MEROPSi S01.251.

Polymorphism databases

DMDMi 317373372.

Proteomic databases

PaxDbi Q9Y5K2.
PRIDEi Q9Y5K2.

Protocols and materials databases

DNASUi 9622.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000324041 ; ENSP00000326159 ; ENSG00000167749 .
GeneIDi 9622.
KEGGi hsa:9622.
UCSCi uc002pua.1. human.

Organism-specific databases

CTDi 9622.
GeneCardsi GC19M051409.
H-InvDB HIX0039968.
HGNCi HGNC:6365. KLK4.
HPAi HPA051839.
MIMi 204700. phenotype.
603767. gene.
neXtProti NX_Q9Y5K2.
Orphaneti 100033. Hypomaturation amelogenesis imperfecta.
PharmGKBi PA30154.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5640.
HOGENOMi HOG000251820.
HOVERGENi HBG013304.
InParanoidi Q9Y5K2.
KOi K08666.
OMAi LCKFTDW.
OrthoDBi EOG75B84T.
PhylomeDBi Q9Y5K2.
TreeFami TF331065.

Miscellaneous databases

EvolutionaryTracei Q9Y5K2.
GeneWikii KLK4.
GenomeRNAii 9622.
NextBioi 36105.
PROi Q9Y5K2.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9Y5K2.
Bgeei Q9Y5K2.
CleanExi HS_KLK4.
Genevestigatori Q9Y5K2.

Family and domain databases

InterProi IPR001254. Peptidase_S1.
IPR018114. Peptidase_S1_AS.
IPR001314. Peptidase_S1A.
IPR009003. Trypsin-like_Pept_dom.
[Graphical view ]
Pfami PF00089. Trypsin. 1 hit.
[Graphical view ]
PRINTSi PR00722. CHYMOTRYPSIN.
SMARTi SM00020. Tryp_SPc. 1 hit.
[Graphical view ]
SUPFAMi SSF50494. SSF50494. 1 hit.
PROSITEi PS50240. TRYPSIN_DOM. 1 hit.
PS00134. TRYPSIN_HIS. 1 hit.
PS00135. TRYPSIN_SER. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.

Entry informationi

Entry nameiKLK4_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5K2
Secondary accession number(s): Q4VB16, Q9GZL6, Q9UBJ6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: January 11, 2011
Last modified: September 3, 2014
This is version 126 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Peptidase families
    Classification of peptidase families and list of entries
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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