Details for: PREPL

Gene ID: 9581

Symbol: PREPL

Ensembl ID: ENSG00000138078

Description: prolyl endopeptidase like

Associated with

Other Information

Genular Protein ID: 2856051219

Symbol: PPCEL_HUMAN

Name: Prolyl endopeptidase-like

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15913950

Title: The 2p21 deletion syndrome: characterization of the transcription content.

PubMed ID: 15913950

DOI: 10.1016/j.ygeno.2005.04.001

PubMed ID: 9455477

Title: Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 9455477

DOI: 10.1093/dnares/4.5.307

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16143824

Title: The PREPL A protein, a new member of the prolyl oligopeptidase family, lacking catalytic activity.

PubMed ID: 16143824

DOI: 10.1007/s00018-005-5262-5

PubMed ID: 16385448

Title: Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.

PubMed ID: 16385448

DOI: 10.1086/498852

PubMed ID: 21686663

Title: Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.

PubMed ID: 21686663

DOI: 10.1136/bcr.08.2008.0719

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23321636

Title: Trans-Golgi network morphology and sorting is regulated by prolyl-oligopeptidase-like protein PREPL and the AP-1 complex subunit mu1A.

PubMed ID: 23321636

DOI: 10.1242/jcs.116079

PubMed ID: 23485813

Title: Cellular and ultra structural evidence for cytoskeletal localization of prolyl endopeptidase-like protein in neurons.

PubMed ID: 23485813

DOI: 10.1016/j.neuroscience.2013.02.038

PubMed ID: 24610330

Title: PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.

PubMed ID: 24610330

DOI: 10.1212/wnl.0000000000000295

PubMed ID: 28726805

Title: PREPL deficiency: delineation of the phenotype and development of a functional blood assay.

PubMed ID: 28726805

DOI: 10.1038/gim.2017.74

PubMed ID: 29483676

Title: The second point mutation in PREPL: a case report and literature review.

PubMed ID: 29483676

DOI: 10.1038/s10038-018-0426-y

PubMed ID: 30237576

Title: Autozygome and high throughput confirmation of disease genes candidacy.

PubMed ID: 30237576

DOI: 10.1038/s41436-018-0138-x

Sequence Information:

  • Length: 727
  • Mass: 83927
  • Checksum: D15B4F3642FC5BBF
  • Sequence:
  • MQQKTKLFLQ ALKYSIPHLG KCMQKQHLNH YNFADHCYNR IKLKKYHLTK CLQNKPKISE 
    LARNIPSRSF SCKDLQPVKQ ENEKPLPENM DAFEKVRTKL ETQPQEEYEI INVEVKHGGF 
    VYYQEGCCLV RSKDEEADND NYEVLFNLEE LKLDQPFIDC IRVAPDEKYV AAKIRTEDSE 
    ASTCVIIKLS DQPVMEASFP NVSSFEWVKD EEDEDVLFYT FQRNLRCHDV YRATFGDNKR 
    NERFYTEKDP SYFVFLYLTK DSRFLTINIM NKTTSEVWLI DGLSPWDPPV LIQKRIHGVL 
    YYVEHRDDEL YILTNVGEPT EFKLMRTAAD TPAIMNWDLF FTMKRNTKVI DLDMFKDHCV 
    LFLKHSNLLY VNVIGLADDS VRSLKLPPWA CGFIMDTNSD PKNCPFQLCS PIRPPKYYTY 
    KFAEGKLFEE TGHEDPITKT SRVLRLEAKS KDGKLVPMTV FHKTDSEDLQ KKPLLVHVYG 
    AYGMDLKMNF RPERRVLVDD GWILAYCHVR GGGELGLQWH ADGRLTKKLN GLADLEACIK 
    TLHGQGFSQP SLTTLTAFSA GGVLAGALCN SNPELVRAVT LEAPFLDVLN TMMDTTLPLT 
    LEELEEWGNP SSDEKHKNYI KRYCPYQNIK PQHYPSIHIT AYENDERVPL KGIVSYTEKL 
    KEAIAEHAKD TGEGYQTPNI ILDIQPGGNH VIEDSHKKIT AQIKFLYEEL GLDSTSVFED 
    LKKYLKF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.