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Entry version 139 (17 Jun 2020)
Sequence version 1 (02 Aug 2005)
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Protein

Prolyl endopeptidase-like

Gene

PREPL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Serine peptidase whose precise substrate specificity remains unclear (PubMed:16143824, PubMed:16385448, PubMed:28726805). Does not cleave peptides after a arginine or lysine residue (PubMed:16143824). Regulates trans-Golgi network morphology and sorting by regulating the membrane binding of the AP-1 complex (PubMed:23321636). May play a role in the regulation of synaptic vesicle exocytosis (PubMed:24610330).5 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by PMSF and Prefabloc, as well as leupeptin at high concentrations (PubMed:16385448). Partially inhibited by TPCK, a chymotrypsin inhibitor and E64, a cysteine protease inhibitor (PubMed:16385448). Not affected by 4-amidinophenyl-methanesulfonyl fluoride (APMSF), pepstatin or EDTA (PubMed:16385448). Inhibited by 1-isobutyl-3-oxo-3,5,6,7-tetrahydro-2H-cyclopenta[c]pyridine-4-carbonitrile (PubMed:28726805).2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei559Charge relay system1 Publication1
Active sitei645Charge relay system1 Publication1
Active sitei690Charge relay system1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Protease, Serine protease

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.4.21.26 2681

Protein family/group databases

ESTHER database of the Alpha/Beta-hydrolase fold superfamily of proteins

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ESTHERi
human-PREPL S9N_PREPL_Peptidase_S9

MEROPS protease database

More...
MEROPSi
S09.015

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Prolyl endopeptidase-like (EC:3.4.21.-3 Publications)
Alternative name(s):
Prolylendopeptidase-like
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PREPL
Synonyms:KIAA0436
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000138078.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30228 PREPL

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609557 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q4J6C6

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Golgi apparatus, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hypotonia-cystinuria syndrome (HCS)5 Publications
The gene represented in this entry is involved in disease pathogenesis. Hypotonia-cystinuria syndrome is a contiguous gene syndrome caused by a homozygous deletion on chromosome 2p21 that disrupts the gene represented in this entry and SLC3A1 (PubMed:16385448, PubMed:21686663). A homozygous 77.4-kb deletion that disrupts the gene represented in this entry, SLC3A1 and CAMKMT, causes atypical hypotonia-cystinuria syndrome, characterized by mild to moderate mental retardation and respiratory chain complex IV deficiency (PubMed:21686663). Patient cells exhibit a larger trans-Golgi network and a reduced redistribution of AP-1 complex, which causes impairment in AP-1 mediated membrane-cytoplasm recycling and secretion (PubMed:23321636).3 Publications
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.
Related information in OMIM
Myasthenic syndrome, congenital, 22 (CMS22)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS22 is an autosomal recessive form characterized by neonatal hypotonia.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi559S → A: Loss of catalytic activity. 1 Publication1
Mutagenesisi645D → A: Loss of catalytic activity. 1 Publication1
Mutagenesisi690H → A: Loss of catalytic activity. 1 Publication1
Mutagenesisi696H → A: No effect on catalytic activity. 1 Publication1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
9581

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
PREPL

MalaCards human disease database

More...
MalaCardsi
PREPL
MIMi606407 phenotype
616224 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000138078

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
163693 2p21 microdeletion syndrome
369881 2p21 microdeletion syndrome without cystinuria
238523 Atypical hypotonia-cystinuria syndrome
163690 Hypotonia-cystinuria syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671134

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q4J6C6 Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2189128

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PREPL

Domain mapping of disease mutations (DMDM)

More...
DMDMi
121944206

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003148601 – 727Prolyl endopeptidase-likeAdd BLAST727

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 4 (identifier: Q4J6C6-4)
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q4J6C6

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q4J6C6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q4J6C6

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q4J6C6

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q4J6C6

PeptideAtlas

More...
PeptideAtlasi
Q4J6C6

PRoteomics IDEntifications database

More...
PRIDEi
Q4J6C6

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
62170 [Q4J6C6-1]
62171 [Q4J6C6-2]
62172 [Q4J6C6-3]
62173 [Q4J6C6-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q4J6C6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q4J6C6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in pyramidal neurons of the temporal cortex and neocortex (at protein level) (PubMed:23485813). Widely expressed (PubMed:15913950, PubMed:16385448). Expressed at higher level in brain, skeletal muscle, heart and kidney (PubMed:15913950, PubMed:16385448). Expressed at the endplates in the neuromuscular junction (PubMed:24610330).4 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000138078 Expressed in Brodmann (1909) area 23 and 235 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q4J6C6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q4J6C6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000138078 Tissue enhanced (brain)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer (PubMed:16143824).

Interacts with the AP-1 complex (PubMed:23321636).

2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
114949, 38 interactors

Protein interaction database and analysis system

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IntActi
Q4J6C6, 43 interactors

Molecular INTeraction database

More...
MINTi
Q4J6C6

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000386543

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q4J6C6 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q4J6C6

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the peptidase S9A family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IU1B Eukaryota
COG1770 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063426

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_011290_2_1_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q4J6C6

KEGG Orthology (KO)

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KOi
K22582

Identification of Orthologs from Complete Genome Data

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OMAi
NMGAGHG

Database of Orthologous Groups

More...
OrthoDBi
1124637at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q4J6C6

TreeFam database of animal gene trees

More...
TreeFami
TF333309

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.1820, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029058 AB_hydrolase
IPR023302 Pept_S9A_N
IPR001375 Peptidase_S9
IPR002470 Peptidase_S9A

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00326 Peptidase_S9, 1 hit
PF02897 Peptidase_S9_N, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00862 PROLIGOPTASE

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53474 SSF53474, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

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.

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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BZP6H7BZP6_HUMAN
Prolyl endopeptidase-like
PREPL
70Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C0M0H7C0M0_HUMAN
Prolyl endopeptidase-like
PREPL
120Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JMT4C9JMT4_HUMAN
Prolyl endopeptidase-like
PREPL
151Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_082151483 – 727Missing Found in a patient with intellectual disability, short stature, chronic lung disease and failure to thrive; unknown pathological significance. 1 PublicationAdd BLAST245

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS33190.1 [Q4J6C6-1]
CCDS42675.1 [Q4J6C6-3]
CCDS42676.1 [Q4J6C6-2]
CCDS54353.1 [Q4J6C6-4]

NCBI Reference Sequences

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RefSeqi
NP_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
XP_011531502.1, XM_011533200.1
XP_011531504.1, XM_011533202.1
XP_016860873.1, XM_017005384.1 [Q4J6C6-1]
XP_016860874.1, XM_017005385.1 [Q4J6C6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000260648; 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]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9581

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9581

UCSC genome browser

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UCSCi
uc002ruf.4 human [Q4J6C6-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
XP_011531502.1, XM_011533200.1
XP_011531504.1, XM_011533202.1
XP_016860873.1, XM_017005384.1 [Q4J6C6-1]
XP_016860874.1, XM_017005385.1 [Q4J6C6-1]

3D structure databases

SMRiQ4J6C6
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi114949, 38 interactors
IntActiQ4J6C6, 43 interactors
MINTiQ4J6C6
STRINGi9606.ENSP00000386543

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
jPOSTiQ4J6C6
MassIVEiQ4J6C6
MaxQBiQ4J6C6
PaxDbiQ4J6C6
PeptideAtlasiQ4J6C6
PRIDEiQ4J6C6
ProteomicsDBi62170 [Q4J6C6-1]
62171 [Q4J6C6-2]
62172 [Q4J6C6-3]
62173 [Q4J6C6-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
29901 117 antibodies

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

Comparative Toxicogenomics Database

More...
CTDi
9581
DisGeNETi9581
EuPathDBiHostDB:ENSG00000138078.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PREPL
GeneReviewsiPREPL
HGNCiHGNC:30228 PREPL
HPAiENSG00000138078 Tissue enhanced (brain)
MalaCardsiPREPL
MIMi606407 phenotype
609557 gene
616224 phenotype
neXtProtiNX_Q4J6C6
OpenTargetsiENSG00000138078
Orphaneti163693 2p21 microdeletion syndrome
369881 2p21 microdeletion syndrome without cystinuria
238523 Atypical hypotonia-cystinuria syndrome
163690 Hypotonia-cystinuria syndrome
PharmGKBiPA142671134

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IU1B Eukaryota
COG1770 LUCA
GeneTreeiENSGT00530000063426
HOGENOMiCLU_011290_2_1_1
InParanoidiQ4J6C6
KOiK22582
OMAiNMGAGHG
OrthoDBi1124637at2759
PhylomeDBiQ4J6C6
TreeFamiTF333309

Enzyme and pathway databases

BRENDAi3.4.21.26 2681

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
9581 14 hits in 787 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PREPL human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PREPL

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
9581
PharosiQ4J6C6 Tchem

Protein Ontology

More...
PROi
PR:Q4J6C6
RNActiQ4J6C6 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138078 Expressed in Brodmann (1909) area 23 and 235 other tissues
ExpressionAtlasiQ4J6C6 baseline and differential
GenevisibleiQ4J6C6 HS

Family and domain databases

Gene3Di3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR023302 Pept_S9A_N
IPR001375 Peptidase_S9
IPR002470 Peptidase_S9A
PfamiView protein in Pfam
PF00326 Peptidase_S9, 1 hit
PF02897 Peptidase_S9_N, 1 hit
PRINTSiPR00862 PROLIGOPTASE
SUPFAMiSSF53474 SSF53474, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPPCEL_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q4J6C6
Secondary accession number(s): A7E2X6
, D6W5A3, O43163, Q4J6C3, Q4J6C4, Q4ZG39, Q6ZMW7, Q96DW7
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: August 2, 2005
Last modified: June 17, 2020
This is version 139 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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