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Protein

Prolyl endopeptidase-like

Gene

PREPL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probable serine peptidase whose precise substrate specificity remains unclear. Does not cleave peptides after a arginine or lysine residue.2 Publications

Enzyme regulationi

Inhibited by PMSF and Prefabloc, as well as leupeptin at high concentrations. Partially inhibited by TPCK, a chymotrypsin inhibitor, and E64, a cysteine protease inhibitor. Not affected by 4-amidinophenyl-methanesulfonyl fluoride (APMSF), pepstatin or EDTA.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei559Charge relay systemBy similarity1
Active sitei645Charge relay systemBy similarity1
Active sitei690Charge relay system1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease, Serine protease

Enzyme and pathway databases

BRENDAi3.4.21.26. 2681.

Protein family/group databases

ESTHERihuman-PREPL. S9N_PREPL_Peptidase_S9.
MEROPSiS09.015.

Names & Taxonomyi

Protein namesi
Recommended name:
Prolyl endopeptidase-like (EC:3.4.21.-)
Alternative name(s):
Prolylendopeptidase-like
Gene namesi
Name:PREPL
Synonyms:KIAA0436
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:30228. PREPL.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Hypotonia-cystinuria syndrome (HCS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood.
See also OMIM:606407

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi690H → A: Loss of activity. 1 Publication1
Mutagenesisi696H → A: No effect. 1 Publication1

Organism-specific databases

DisGeNETi9581.
MalaCardsiPREPL.
MIMi606407. phenotype.
OpenTargetsiENSG00000138078.
Orphaneti163693. 2p21 microdeletion syndrome.
369881. 2p21 microdeletion syndrome without cystinuria.
238523. Atypical hypotonia - cystinuria syndrome.
163690. Hypotonia - cystinuria syndrome.
PharmGKBiPA142671134.

Chemistry databases

ChEMBLiCHEMBL2189128.

Polymorphism and mutation databases

BioMutaiPREPL.
DMDMi121944206.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003148601 – 727Prolyl endopeptidase-likeAdd BLAST727

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 4 (identifier: Q4J6C6-4)
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ4J6C6.
MaxQBiQ4J6C6.
PaxDbiQ4J6C6.
PeptideAtlasiQ4J6C6.
PRIDEiQ4J6C6.

PTM databases

iPTMnetiQ4J6C6.
PhosphoSitePlusiQ4J6C6.

Expressioni

Tissue specificityi

Widely expressed. Expressed at higher level in brain, skeletal muscle, heart and kidney.1 Publication

Gene expression databases

BgeeiENSG00000138078.
CleanExiHS_PREPL.
ExpressionAtlasiQ4J6C6. baseline and differential.
GenevisibleiQ4J6C6. HS.

Organism-specific databases

HPAiHPA063238.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi114949. 23 interactors.
IntActiQ4J6C6. 13 interactors.
MINTiMINT-2867073.
STRINGi9606.ENSP00000260648.

Structurei

3D structure databases

ProteinModelPortaliQ4J6C6.
SMRiQ4J6C6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase S9A family.Curated

Phylogenomic databases

eggNOGiENOG410IU1B. Eukaryota.
COG1770. LUCA.
GeneTreeiENSGT00530000063426.
HOVERGENiHBG108279.
InParanoidiQ4J6C6.
OMAiFLTMNIM.
OrthoDBiEOG091G02W5.
PhylomeDBiQ4J6C6.
TreeFamiTF333309.

Family and domain databases

Gene3Di3.40.50.1820. 1 hit.
InterProiIPR029058. AB_hydrolase.
IPR023302. Pept_S9A_N.
IPR001375. Peptidase_S9.
IPR002470. Peptidase_S9A.
[Graphical view]
PANTHERiPTHR11757. PTHR11757. 1 hit.
PfamiPF00326. Peptidase_S9. 1 hit.
PF02897. Peptidase_S9_N. 1 hit.
[Graphical view]
PRINTSiPR00862. PROLIGOPTASE.
SUPFAMiSSF53474. SSF53474. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q4J6C6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQQKTKLFLQ ALKYSIPHLG KCMQKQHLNH YNFADHCYNR IKLKKYHLTK
60 70 80 90 100
CLQNKPKISE LARNIPSRSF SCKDLQPVKQ ENEKPLPENM DAFEKVRTKL
110 120 130 140 150
ETQPQEEYEI INVEVKHGGF VYYQEGCCLV RSKDEEADND NYEVLFNLEE
160 170 180 190 200
LKLDQPFIDC IRVAPDEKYV AAKIRTEDSE ASTCVIIKLS DQPVMEASFP
210 220 230 240 250
NVSSFEWVKD EEDEDVLFYT FQRNLRCHDV YRATFGDNKR NERFYTEKDP
260 270 280 290 300
SYFVFLYLTK DSRFLTINIM NKTTSEVWLI DGLSPWDPPV LIQKRIHGVL
310 320 330 340 350
YYVEHRDDEL YILTNVGEPT EFKLMRTAAD TPAIMNWDLF FTMKRNTKVI
360 370 380 390 400
DLDMFKDHCV LFLKHSNLLY VNVIGLADDS VRSLKLPPWA CGFIMDTNSD
410 420 430 440 450
PKNCPFQLCS PIRPPKYYTY KFAEGKLFEE TGHEDPITKT SRVLRLEAKS
460 470 480 490 500
KDGKLVPMTV FHKTDSEDLQ KKPLLVHVYG AYGMDLKMNF RPERRVLVDD
510 520 530 540 550
GWILAYCHVR GGGELGLQWH ADGRLTKKLN GLADLEACIK TLHGQGFSQP
560 570 580 590 600
SLTTLTAFSA GGVLAGALCN SNPELVRAVT LEAPFLDVLN TMMDTTLPLT
610 620 630 640 650
LEELEEWGNP SSDEKHKNYI KRYCPYQNIK PQHYPSIHIT AYENDERVPL
660 670 680 690 700
KGIVSYTEKL KEAIAEHAKD TGEGYQTPNI ILDIQPGGNH VIEDSHKKIT
710 720
AQIKFLYEEL GLDSTSVFED LKKYLKF
Length:727
Mass (Da):83,927
Last modified:August 2, 2005 - v1
Checksum:iD15B4F3642FC5BBF
GO
Isoform 2 (identifier: Q4J6C6-2) [UniParc]FASTAAdd to basket
Also known as: D

The sequence of this isoform differs from the canonical sequence as follows:
     385-450: Missing.

Note: No experimental confirmation available.
Show »
Length:661
Mass (Da):76,352
Checksum:iD028E9F2730CA20B
GO
Isoform 3 (identifier: Q4J6C6-3) [UniParc]FASTAAdd to basket
Also known as: E

The sequence of this isoform differs from the canonical sequence as follows:
     323-384: Missing.

Note: No experimental confirmation available.
Show »
Length:665
Mass (Da):76,757
Checksum:i5CF727042078CF3B
GO
Isoform 4 (identifier: Q4J6C6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-89: Missing.

Show »
Length:638
Mass (Da):73,352
Checksum:iAECE842175B1CB5F
GO

Sequence cautioni

The sequence AAX88956 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAA23709 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti9L → P in BAD18608 (PubMed:14702039).Curated1
Sequence conflicti90M → T in BAD18608 (PubMed:14702039).Curated1
Sequence conflicti299V → I in BAD18608 (PubMed:14702039).Curated1
Sequence conflicti408L → P in AAI51237 (PubMed:15489334).Curated1
Sequence conflicti511G → Y in AAH13193 (PubMed:15489334).Curated1
Sequence conflicti522D → G in AAI51237 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0304011 – 89Missing in isoform 4. 1 PublicationAdd BLAST89
Alternative sequenceiVSP_030402323 – 384Missing in isoform 3. 1 PublicationAdd BLAST62
Alternative sequenceiVSP_030403385 – 450Missing in isoform 2. 1 PublicationAdd BLAST66

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ023503 mRNA. Translation: AAY89634.1.
DQ023504 mRNA. Translation: AAY89635.1.
DQ023505 mRNA. Translation: AAY89636.1.
DQ023506 mRNA. Translation: AAY89637.1.
DQ023507 mRNA. Translation: AAY89638.1.
AB007896 mRNA. Translation: BAA23709.1. Different initiation.
AK131463 mRNA. Translation: BAD18608.1.
AC013717 Genomic DNA. Translation: AAX88956.1. Sequence problems.
CH471053 Genomic DNA. Translation: EAX00275.1.
CH471053 Genomic DNA. Translation: EAX00276.1.
CH471053 Genomic DNA. Translation: EAX00277.1.
BC013193 mRNA. Translation: AAH13193.1.
BC151236 mRNA. Translation: AAI51237.1.
CCDSiCCDS33190.1. [Q4J6C6-1]
CCDS42675.1. [Q4J6C6-3]
CCDS42676.1. [Q4J6C6-2]
CCDS54353.1. [Q4J6C6-4]
RefSeqiNP_001035844.1. NM_001042385.2. [Q4J6C6-3]
NP_001035845.1. NM_001042386.2. [Q4J6C6-2]
NP_001165074.1. NM_001171603.1. [Q4J6C6-1]
NP_001165077.1. NM_001171606.1. [Q4J6C6-1]
NP_001165084.1. NM_001171613.1. [Q4J6C6-4]
NP_001165088.1. NM_001171617.1. [Q4J6C6-4]
NP_006027.2. NM_006036.4. [Q4J6C6-1]
XP_011531500.1. XM_011533198.1. [Q4J6C6-1]
XP_011531502.1. XM_011533200.1. [Q4J6C6-1]
XP_011531504.1. XM_011533202.1. [Q4J6C6-4]
XP_016860873.1. XM_017005384.1. [Q4J6C6-1]
XP_016860874.1. XM_017005385.1. [Q4J6C6-1]
UniGeneiHs.444349.

Genome annotation databases

EnsembliENST00000260648; ENSP00000260648; ENSG00000138078. [Q4J6C6-1]
ENST00000378511; ENSP00000367772; ENSG00000138078. [Q4J6C6-3]
ENST00000378520; ENSP00000367781; ENSG00000138078. [Q4J6C6-2]
ENST00000409272; ENSP00000386909; ENSG00000138078. [Q4J6C6-1]
ENST00000409411; ENSP00000387095; ENSG00000138078. [Q4J6C6-4]
ENST00000409936; ENSP00000386543; ENSG00000138078. [Q4J6C6-1]
ENST00000409957; ENSP00000387241; ENSG00000138078. [Q4J6C6-4]
ENST00000410081; ENSP00000386509; ENSG00000138078. [Q4J6C6-1]
ENST00000425263; ENSP00000391456; ENSG00000138078. [Q4J6C6-1]
ENST00000426481; ENSP00000409480; ENSG00000138078. [Q4J6C6-1]
ENST00000541738; ENSP00000439626; ENSG00000138078. [Q4J6C6-4]
GeneIDi9581.
KEGGihsa:9581.
UCSCiuc002ruf.4. human. [Q4J6C6-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ023503 mRNA. Translation: AAY89634.1.
DQ023504 mRNA. Translation: AAY89635.1.
DQ023505 mRNA. Translation: AAY89636.1.
DQ023506 mRNA. Translation: AAY89637.1.
DQ023507 mRNA. Translation: AAY89638.1.
AB007896 mRNA. Translation: BAA23709.1. Different initiation.
AK131463 mRNA. Translation: BAD18608.1.
AC013717 Genomic DNA. Translation: AAX88956.1. Sequence problems.
CH471053 Genomic DNA. Translation: EAX00275.1.
CH471053 Genomic DNA. Translation: EAX00276.1.
CH471053 Genomic DNA. Translation: EAX00277.1.
BC013193 mRNA. Translation: AAH13193.1.
BC151236 mRNA. Translation: AAI51237.1.
CCDSiCCDS33190.1. [Q4J6C6-1]
CCDS42675.1. [Q4J6C6-3]
CCDS42676.1. [Q4J6C6-2]
CCDS54353.1. [Q4J6C6-4]
RefSeqiNP_001035844.1. NM_001042385.2. [Q4J6C6-3]
NP_001035845.1. NM_001042386.2. [Q4J6C6-2]
NP_001165074.1. NM_001171603.1. [Q4J6C6-1]
NP_001165077.1. NM_001171606.1. [Q4J6C6-1]
NP_001165084.1. NM_001171613.1. [Q4J6C6-4]
NP_001165088.1. NM_001171617.1. [Q4J6C6-4]
NP_006027.2. NM_006036.4. [Q4J6C6-1]
XP_011531500.1. XM_011533198.1. [Q4J6C6-1]
XP_011531502.1. XM_011533200.1. [Q4J6C6-1]
XP_011531504.1. XM_011533202.1. [Q4J6C6-4]
XP_016860873.1. XM_017005384.1. [Q4J6C6-1]
XP_016860874.1. XM_017005385.1. [Q4J6C6-1]
UniGeneiHs.444349.

3D structure databases

ProteinModelPortaliQ4J6C6.
SMRiQ4J6C6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114949. 23 interactors.
IntActiQ4J6C6. 13 interactors.
MINTiMINT-2867073.
STRINGi9606.ENSP00000260648.

Chemistry databases

ChEMBLiCHEMBL2189128.

Protein family/group databases

ESTHERihuman-PREPL. S9N_PREPL_Peptidase_S9.
MEROPSiS09.015.

PTM databases

iPTMnetiQ4J6C6.
PhosphoSitePlusiQ4J6C6.

Polymorphism and mutation databases

BioMutaiPREPL.
DMDMi121944206.

Proteomic databases

EPDiQ4J6C6.
MaxQBiQ4J6C6.
PaxDbiQ4J6C6.
PeptideAtlasiQ4J6C6.
PRIDEiQ4J6C6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260648; ENSP00000260648; ENSG00000138078. [Q4J6C6-1]
ENST00000378511; ENSP00000367772; ENSG00000138078. [Q4J6C6-3]
ENST00000378520; ENSP00000367781; ENSG00000138078. [Q4J6C6-2]
ENST00000409272; ENSP00000386909; ENSG00000138078. [Q4J6C6-1]
ENST00000409411; ENSP00000387095; ENSG00000138078. [Q4J6C6-4]
ENST00000409936; ENSP00000386543; ENSG00000138078. [Q4J6C6-1]
ENST00000409957; ENSP00000387241; ENSG00000138078. [Q4J6C6-4]
ENST00000410081; ENSP00000386509; ENSG00000138078. [Q4J6C6-1]
ENST00000425263; ENSP00000391456; ENSG00000138078. [Q4J6C6-1]
ENST00000426481; ENSP00000409480; ENSG00000138078. [Q4J6C6-1]
ENST00000541738; ENSP00000439626; ENSG00000138078. [Q4J6C6-4]
GeneIDi9581.
KEGGihsa:9581.
UCSCiuc002ruf.4. human. [Q4J6C6-1]

Organism-specific databases

CTDi9581.
DisGeNETi9581.
GeneCardsiPREPL.
HGNCiHGNC:30228. PREPL.
HPAiHPA063238.
MalaCardsiPREPL.
MIMi606407. phenotype.
609557. gene.
neXtProtiNX_Q4J6C6.
OpenTargetsiENSG00000138078.
Orphaneti163693. 2p21 microdeletion syndrome.
369881. 2p21 microdeletion syndrome without cystinuria.
238523. Atypical hypotonia - cystinuria syndrome.
163690. Hypotonia - cystinuria syndrome.
PharmGKBiPA142671134.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IU1B. Eukaryota.
COG1770. LUCA.
GeneTreeiENSGT00530000063426.
HOVERGENiHBG108279.
InParanoidiQ4J6C6.
OMAiFLTMNIM.
OrthoDBiEOG091G02W5.
PhylomeDBiQ4J6C6.
TreeFamiTF333309.

Enzyme and pathway databases

BRENDAi3.4.21.26. 2681.

Miscellaneous databases

ChiTaRSiPREPL. human.
GeneWikiiPREPL.
GenomeRNAii9581.
PROiQ4J6C6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138078.
CleanExiHS_PREPL.
ExpressionAtlasiQ4J6C6. baseline and differential.
GenevisibleiQ4J6C6. HS.

Family and domain databases

Gene3Di3.40.50.1820. 1 hit.
InterProiIPR029058. AB_hydrolase.
IPR023302. Pept_S9A_N.
IPR001375. Peptidase_S9.
IPR002470. Peptidase_S9A.
[Graphical view]
PANTHERiPTHR11757. PTHR11757. 1 hit.
PfamiPF00326. Peptidase_S9. 1 hit.
PF02897. Peptidase_S9_N. 1 hit.
[Graphical view]
PRINTSiPR00862. PROLIGOPTASE.
SUPFAMiSSF53474. SSF53474. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiPPCEL_HUMAN
AccessioniPrimary (citable) accession number: Q4J6C6
Secondary accession number(s): A7E2X6
, D6W5A3, O43163, Q4J6C3, Q4J6C4, Q4ZG39, Q6ZMW7, Q96DW7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: August 2, 2005
Last modified: November 2, 2016
This is version 112 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Peptidase families
    Classification of peptidase families and list of entries
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.