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PREPL prolyl endopeptidase like [ Homo sapiens (human) ]

Gene ID: 9581, updated on 5-Mar-2024

Summary

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Official Symbol
PREPLprovided by HGNC
Official Full Name
prolyl endopeptidase likeprovided by HGNC
Primary source
HGNC:HGNC:30228
See related
Ensembl:ENSG00000138078 MIM:609557; AllianceGenome:HGNC:30228
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CMS22
Summary
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]
Expression
Broad expression in brain (RPKM 66.6), kidney (RPKM 33.1) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
2p21
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (44317607..44361862, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (44322928..44367164, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (44544746..44589001, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1B Neighboring gene uncharacterized LOC124906174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:44513823-44514378 Neighboring gene ribosomal protein L12 pseudogene 19 Neighboring gene solute carrier family 3 member 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:44558969-44559142 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:44588276-44589475 Neighboring gene MPRA-validated peak3688 silencer Neighboring gene uncharacterized LOC124905998 Neighboring gene uncharacterized LOC124907759 Neighboring gene calmodulin-lysine N-methyltransferase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings. Shchagina O, et al. Genes (Basel), 2020 Jul 19. PMID 32707643, Free PMC Article
  2. The second point mutation in PREPL: a case report and literature review. Silva S, et al. J Hum Genet, 2018 May. PMID 29483676
  3. PREPL: a putative novel oligopeptidase propelled into the limelight. Martens K, et al. Biol Chem, 2006 Jul. PMID 16913837
  4. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. Jaeken J, et al. Am J Hum Genet, 2006 Jan. PMID 16385448, Free PMC Article
  5. The PREPL A protein, a new member of the prolyl oligopeptidase family, lacking catalytic activity. Szeltner Z, et al. Cell Mol Life Sci, 2005 Oct. PMID 16143824

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Multiomics Analyses Identify Proline Endopeptidase-Like Protein As a Key Regulator of Protein Trafficking, a Pathway Underlying Alzheimer's Disease Pathogenesis.
    Title: Multiomics Analyses Identify Proline Endopeptidase-Like Protein As a Key Regulator of Protein Trafficking, a Pathway Underlying Alzheimer's Disease Pathogenesis.
  2. A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.
    Title: A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.
  3. we report the first homozygous PREPL point mutation in a girl with typical PREPL deficiency. This syndrome should be considered in the differential diagnosis of hypotonic neonates exhibiting myasthenic symptoms, hyperphagia, and various degrees of ID.
    Title: The second point mutation in PREPL: a case report and literature review.
  4. Deletion of PREPL is associated with Hypotonia-cystinuria syndrome.
    Title: Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.
  5. Two novel deletions encompassing the SLC3A1 and PREPL genes have been identified in unrelated hypotonia-cystinuria syndrome patients.
    Title: Two novel deletions in hypotonia-cystinuria syndrome.
  6. Two key transcription factors, NRF-2 and YY-1, were further identified to coordinately participate in driving gene expressions of PREPL-C2ORF34 genes pairin an additive manner.
    Title: Cooperation between NRF-2 and YY-1 transcription factors is essential for triggering the expression of the PREPL-C2ORF34 bidirectional gene pair.
  7. a deletion of PREPL causes atypical hypotonia-cystinuria syndrome
    Title: Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.
  8. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.
    Title: Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.
  9. Deletion of the gene results in hypotonia at birth, failure to thrive and growth hormone deficiency
    Title: PREPL: a putative novel oligopeptidase propelled into the limelight.
  10. description of L-leucine transport into bladder carcinoma cells
    Title: Characterization of the system L amino acid transporter in T24 human bladder carcinoma cells.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Myasthenic syndrome, congenital, 22
MedGen: C4479088 OMIM: 616224 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ16627, KIAA0436

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables peptidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables peptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in Golgi to plasma membrane protein transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of synaptic vesicle exocytosis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in retrograde transport, endosome to Golgi ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
colocalizes_with trans-Golgi network ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
prolyl endopeptidase-like
Names
putative prolyl oligopeptidase
NP_001035844.1
NP_001035845.1
NP_001165074.1
NP_001165077.1
NP_001165084.1
NP_001165088.1
NP_001361204.1
NP_001361205.1
NP_001361206.1
NP_006027.2
XP_016860874.1
XP_047302397.1
XP_047302398.1
XP_047302399.1
XP_047302400.1
XP_047302401.1
XP_047302402.1
XP_054200636.1
XP_054200637.1
XP_054200638.1
XP_054200639.1
XP_054200640.1
XP_054200641.1
XP_054200642.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016429.1 RefSeqGene

    Range
    5369..49256
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042385.2 → NP_001035844.1  prolyl endopeptidase-like isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4, also known as variant E) is missing an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) lacking an internal protein segment compared to isoform 1.
    Source sequence(s)
    AC013717, BC151236, CA951923, DQ023506, DQ023507
    Consensus CDS
    CCDS42675.1
    UniProtKB/Swiss-Prot
    Q4J6C6
    Related
    ENSP00000367772.3, ENST00000378511.7
    Conserved Domains (2) summary
    COG1770
    Location:113 → 601
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:427 → 630
    Abhydrolase; alpha/beta hydrolases

  2. NM_001042386.2 → NP_001035845.1  prolyl endopeptidase-like isoform 3

    See identical proteins and their annotated locations for NP_001035845.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5, also known as variant D) is missing an in-frame coding exon compared to variant 1, resulting in a shorter isoform (3) lacking an internal protein segment compared to isoform 1.
    Source sequence(s)
    AC013717, BC151236, CA951923, DQ023507
    Consensus CDS
    CCDS42676.1
    UniProtKB/Swiss-Prot
    Q4J6C6
    Related
    ENSP00000367781.3, ENST00000378520.7
    Conserved Domains (2) summary
    COG1770
    Location:113 → 583
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:423 → 626
    Abhydrolase; alpha/beta hydrolases

  3. NM_001171603.1 → NP_001165074.1  prolyl endopeptidase-like isoform 1

    See identical proteins and their annotated locations for NP_001165074.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as variant C1) contains an additional 5' non-coding exon compared to variant 1. Variants 1-3 encode the same isoform (1).
    Source sequence(s)
    AC013717, BC151236, BG717492, CA951923, DA410514, DQ023505
    Consensus CDS
    CCDS33190.1
    UniProtKB/Swiss-Prot
    A7E2X6, D6W5A3, O43163, Q4J6C3, Q4J6C4, Q4J6C6, Q4ZG39, Q6ZMW7, Q96DW7
    Related
    ENSP00000386909.1, ENST00000409272.5
    Conserved Domains (1) summary
    COG1770
    Location:113 → 649
    PtrB; Protease II [Amino acid transport and metabolism]

  4. NM_001171606.2 → NP_001165077.1  prolyl endopeptidase-like isoform 1

    See identical proteins and their annotated locations for NP_001165077.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an additional 5' non-coding exon compared to variant 1. Variants 1-3 encode the same isoform (1).
    Source sequence(s)
    AC013717, BC151236, CA951923, CX166315, DA246860, DQ023505
    Consensus CDS
    CCDS33190.1
    UniProtKB/Swiss-Prot
    A7E2X6, D6W5A3, O43163, Q4J6C3, Q4J6C4, Q4J6C6, Q4ZG39, Q6ZMW7, Q96DW7
    Related
    ENSP00000386543.1, ENST00000409936.5
    Conserved Domains (1) summary
    COG1770
    Location:113 → 649
    PtrB; Protease II [Amino acid transport and metabolism]

  5. NM_001171613.2 → NP_001165084.1  prolyl endopeptidase-like isoform 4

    See identical proteins and their annotated locations for NP_001165084.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate exon at the 5' end compared to variant 1, resulting in translation initiation from an in-frame downstream AUG and a shorter isoform (4) compared to isoform 1. Variants 6 and 7 encode the same isoform.
    Source sequence(s)
    AC013717, BC151236, CA951923, DA246860, DQ023505
    Consensus CDS
    CCDS54353.1
    UniProtKB/Swiss-Prot
    Q4J6C6
    Related
    ENSP00000387095.2, ENST00000409411.6
    Conserved Domains (1) summary
    COG1770
    Location:24 → 574
    PtrB; Protease II [Amino acid transport and metabolism]

  6. NM_001171617.1 → NP_001165088.1  prolyl endopeptidase-like isoform 4

    See identical proteins and their annotated locations for NP_001165088.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7, also known as variant B) contains an alternate exon at the 5' end compared to variant 1, resulting in translation initiation from an in-frame downstream AUG and a shorter isoform (4) compared to isoform 1. Variants 6 and 7 encode the same isoform.
    Source sequence(s)
    AC013717, BC151236, BG717492, CA951923, DA410514, DQ023505
    Consensus CDS
    CCDS54353.1
    UniProtKB/Swiss-Prot
    Q4J6C6
    Related
    ENSP00000439626.1, ENST00000541738.5
    Conserved Domains (1) summary
    COG1770
    Location:24 → 574
    PtrB; Protease II [Amino acid transport and metabolism]

  7. NM_001374275.1 → NP_001361204.1  prolyl endopeptidase-like isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC013717, AC016703
    Consensus CDS
    CCDS33190.1
    UniProtKB/Swiss-Prot
    A7E2X6, D6W5A3, O43163, Q4J6C3, Q4J6C4, Q4J6C6, Q4ZG39, Q6ZMW7, Q96DW7
    Conserved Domains (1) summary
    COG1770
    Location:113 → 649
    PtrB; Protease II [Amino acid transport and metabolism]

  8. NM_001374276.1 → NP_001361205.1  prolyl endopeptidase-like isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC013717, AC016703
    Consensus CDS
    CCDS33190.1
    UniProtKB/Swiss-Prot
    A7E2X6, D6W5A3, O43163, Q4J6C3, Q4J6C4, Q4J6C6, Q4ZG39, Q6ZMW7, Q96DW7
    Related
    ENSP00000386509.1, ENST00000410081.5
    Conserved Domains (1) summary
    COG1770
    Location:113 → 649
    PtrB; Protease II [Amino acid transport and metabolism]

  9. NM_001374277.1 → NP_001361206.1  prolyl endopeptidase-like isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC013717, AC016703
    Consensus CDS
    CCDS54353.1
    Related
    ENSP00000387241.1, ENST00000409957.5
    Conserved Domains (1) summary
    COG1770
    Location:24 → 574
    PtrB; Protease II [Amino acid transport and metabolism]

  10. NM_006036.4 → NP_006027.2  prolyl endopeptidase-like isoform 1

    See identical proteins and their annotated locations for NP_006027.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as variant C) represents the longest transcript, and encodes the longest isoform (1). Variants 1-3 encode the same isoform.
    Source sequence(s)
    AC013717, BC151236, CA951923, DQ023505
    Consensus CDS
    CCDS33190.1
    UniProtKB/Swiss-Prot
    A7E2X6, D6W5A3, O43163, Q4J6C3, Q4J6C4, Q4J6C6, Q4ZG39, Q6ZMW7, Q96DW7
    Related
    ENSP00000260648.6, ENST00000260648.10
    Conserved Domains (1) summary
    COG1770
    Location:113 → 649
    PtrB; Protease II [Amino acid transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    44317607..44361862 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047446444.1 → XP_047302400.1  prolyl endopeptidase-like isoform X2

  2. XM_047446443.1 → XP_047302399.1  prolyl endopeptidase-like isoform X2

  3. XM_017005385.2 → XP_016860874.1  prolyl endopeptidase-like isoform X1

    UniProtKB/Swiss-Prot
    A7E2X6, D6W5A3, O43163, Q4J6C3, Q4J6C4, Q4J6C6, Q4ZG39, Q6ZMW7, Q96DW7
    Conserved Domains (1) summary
    COG1770
    Location:113 → 649
    PtrB; Protease II [Amino acid transport and metabolism]

  4. XM_047446446.1 → XP_047302402.1  prolyl endopeptidase-like isoform X4

  5. XM_047446445.1 → XP_047302401.1  prolyl endopeptidase-like isoform X3

  6. XM_047446442.1 → XP_047302398.1  prolyl endopeptidase-like isoform X2

  7. XM_047446441.1 → XP_047302397.1  prolyl endopeptidase-like isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    44322928..44367164 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344665.1 → XP_054200640.1  prolyl endopeptidase-like isoform X2

  2. XM_054344664.1 → XP_054200639.1  prolyl endopeptidase-like isoform X2

  3. XM_054344661.1 → XP_054200636.1  prolyl endopeptidase-like isoform X1

    UniProtKB/Swiss-Prot
    A7E2X6, D6W5A3, O43163, Q4J6C3, Q4J6C4, Q4J6C6, Q4ZG39, Q6ZMW7, Q96DW7

  4. XM_054344667.1 → XP_054200642.1  prolyl endopeptidase-like isoform X4

  5. XM_054344666.1 → XP_054200641.1  prolyl endopeptidase-like isoform X3

  6. XM_054344663.1 → XP_054200638.1  prolyl endopeptidase-like isoform X2

  7. XM_054344662.1 → XP_054200637.1  prolyl endopeptidase-like isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q4J6C6.1 GenPept UniProtKB/Swiss-Prot:Q4J6C6

Gene LinkOut

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