• Gene id: 9581

Gene Summary

• Gene Symbol: PREPL   Gene   UCSC   Ensembl
• Aliases: CMS22
• Gene name: prolyl endopeptidase like
• Alternate names: prolyl endopeptidase-like, putative prolyl oligopeptidase,
• Gene location: 2p21 (44361861: 44317606)     Exons: 16     NC_000002.12
• Gene summary(Entrez): 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 t
• OMIM: 609557

Protein Summary

• Protein general information: Q4J6C6  
  • Name: Prolyl endopeptidase like (EC 3.4.21. ) (Prolylendopeptidase like)
  • Length: 727  
  • Mass: 83927
  • Tissue specificity: Expressed in pyramidal neurons of the temporal cortex and neocortex (at protein level) (PubMed
• Sequence:

  MQQKTKLFLQALKYSIPHLGKCMQKQHLNHYNFADHCYNRIKLKKYHLTKCLQNKPKISELARNIPSRSFSCKDL
  QPVKQENEKPLPENMDAFEKVRTKLETQPQEEYEIINVEVKHGGFVYYQEGCCLVRSKDEEADNDNYEVLFNLEE
  LKLDQPFIDCIRVAPDEKYVAAKIRTEDSEASTCVIIKLSDQPVMEASFPNVSSFEWVKDEEDEDVLFYTFQRNL
  RCHDVYRATFGDNKRNERFYTEKDPSYFVFLYLTKDSRFLTINIMNKTTSEVWLIDGLSPWDPPVLIQKRIHGVL
  YYVEHRDDELYILTNVGEPTEFKLMRTAADTPAIMNWDLFFTMKRNTKVIDLDMFKDHCVLFLKHSNLLYVNVIG
  LADDSVRSLKLPPWACGFIMDTNSDPKNCPFQLCSPIRPPKYYTYKFAEGKLFEETGHEDPITKTSRVLRLEAKS
  KDGKLVPMTVFHKTDSEDLQKKPLLVHVYGAYGMDLKMNFRPERRVLVDDGWILAYCHVRGGGELGLQWHADGRL
  TKKLNGLADLEACIKTLHGQGFSQPSLTTLTAFSAGGVLAGALCNSNPELVRAVTLEAPFLDVLNTMMDTTLPLT
  LEELEEWGNPSSDEKHKNYIKRYCPYQNIKPQHYPSIHITAYENDERVPLKGIVSYTEKLKEAIAEHAKDTGEGY
  QTPNIILDIQPGGNHVIEDSHKKITAQIKFLYEELGLDSTSVFEDLKKYLKF

• Structural information:
  • Interpro: IPR029058  IPR023302  IPR001375  IPR002470  
  • STRING: ENSP00000386543
• Other Databases: GeneCards:  PREPL  Malacards:  PREPL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005856	cytoskeleton	IBA	cellular component
GO:0005794	Golgi apparatus	IBA	cellular component
GO:2000300	regulation of synaptic vesicle exocytosis	IMP	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0070008	serine-type exopeptidase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0005802	trans-Golgi network	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0043001	Golgi to plasma membrane protein transport	IEA	biological process
GO:0042147	retrograde transport, endosome to Golgi	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005802	trans-Golgi network	ISS	colocalizes with
GO:0008233	peptidase activity	IMP	molecular function
GO:0043001	Golgi to plasma membrane protein transport	ISS	biological process
GO:0042147	retrograde transport, endosome to Golgi	ISS	biological process
GO:0008233	peptidase activity	ISS	molecular function

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Congenital myasthenic syndrome	KEGG:H00770
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)