Human Gene PREPL (ENST00000409936.5) from GENCODE V44
Description: Homo sapiens prolyl endopeptidase like (PREPL), transcript variant 9, mRNA. (from RefSeq NM_001374276) RefSeq Summary (NM_001171606): The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010]. Gencode Transcript: ENST00000409936.5 Gencode Gene: ENSG00000138078.16 Transcript (Including UTRs) Position: hg38 chr2:44,318,766-44,361,494 Size: 42,729 Total Exon Count: 15 Strand: - Coding Region Position: hg38 chr2:44,321,356-44,359,715 Size: 38,360 Coding Exon Count: 14
ID:PPCEL_HUMAN DESCRIPTION: RecName: Full=Prolyl endopeptidase-like; EC=3.4.21.-; AltName: Full=Prolylendopeptidase-like; FUNCTION: Probable serine peptidase whose precise substrate specificity remains unclear. Does not cleave peptides after a arginine or lysine residue. ENZYME REGULATION: 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. SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Cytoplasm, cytosol. TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in brain, skeletal muscle, heart and kidney. DISEASE: Defects in PREPL are a cause of hypotonia-cystinuria syndrome (HCS) [MIM:606407]. HCS is characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. HCS is caused by a deletion that disrups both SLC3A1 and PREPL genes. As SLC3A1 is known to cause isolated cystinuria type I, the extended phenotype could be attributed to the deletion of PREPL. SIMILARITY: Belongs to the peptidase S9A family. SEQUENCE CAUTION: Sequence=AAX88956.1; Type=Erroneous gene model prediction; Sequence=BAA23709.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q4J6C6
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
