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PREPL prolyl endopeptidase like [ Homo sapiens (human) ]

Gene ID: 9581, updated on 23-Sep-2018

Summary

Official Symbol
PREPLprovided by HGNC
Official Full Name
prolyl endopeptidase likeprovided by HGNC
Primary source
HGNC:HGNC:30228
See related
Ensembl:ENSG00000138078 MIM:609557; Vega:OTTHUMG00000152791
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

Genomic context

See PREPL in Genome Data Viewer
Location:
2p21
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (44317607..44361862, complement)
105 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 uncharacterized LOC102723904 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1B Neighboring gene ribosomal protein L12 pseudogene 19 Neighboring gene solute carrier family 3 member 1 Neighboring gene calmodulin-lysine N-methyltransferase Neighboring gene uncharacterized LOC107985878 Neighboring gene VISTA enhancer hs541

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16627, KIAA0436

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
serine-type exopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of synaptic vesicle exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_006027.2
XP_011531500.1
XP_011531502.1
XP_011531504.1
XP_016860873.1
XP_016860874.1

NCBI Reference Sequences (RefSeq)

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
    5001..49256
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042385.2NP_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, OTTHUMP00000202417, ENST00000378511.7, OTTHUMT00000327893
    Conserved Domains (2) summary
    COG1770
    Location:113601
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:427630
    Abhydrolase; alpha/beta hydrolases
  2. NM_001042386.2NP_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, OTTHUMP00000202418, ENST00000378520.7, OTTHUMT00000327894
    Conserved Domains (2) summary
    COG1770
    Location:113583
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:423626
    Abhydrolase; alpha/beta hydrolases
  3. NM_001171603.1NP_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
    Q4J6C6
    Related
    ENSP00000386909.1, OTTHUMP00000202421, ENST00000409272.5, OTTHUMT00000327897
    Conserved Domains (2) summary
    COG1770
    Location:113649
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:489692
    Abhydrolase; alpha/beta hydrolases
  4. NM_001171606.1NP_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
    Q4J6C6
    Related
    ENSP00000386543.1, OTTHUMP00000202424, ENST00000409936.5, OTTHUMT00000327900
    Conserved Domains (2) summary
    COG1770
    Location:113649
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:489692
    Abhydrolase; alpha/beta hydrolases
  5. NM_001171613.1NP_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
    ENSP00000387095.1, OTTHUMP00000202423, ENST00000409411.5, OTTHUMT00000327899
    Conserved Domains (2) summary
    COG1770
    Location:24574
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:400603
    Abhydrolase; alpha/beta hydrolases
  6. NM_001171617.1NP_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 (2) summary
    COG1770
    Location:24574
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:400603
    Abhydrolase; alpha/beta hydrolases
  7. NM_006036.4NP_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
    Q4J6C6
    Related
    ENSP00000260648.6, OTTHUMP00000202419, ENST00000260648.10, OTTHUMT00000327895
    Conserved Domains (2) summary
    COG1770
    Location:113649
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:489692
    Abhydrolase; alpha/beta hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011533202.1XP_011531504.1  prolyl endopeptidase-like isoform X2

    See identical proteins and their annotated locations for XP_011531504.1

    UniProtKB/Swiss-Prot
    Q4J6C6
    Related
    ENSP00000387241.1, OTTHUMP00000202422, ENST00000409957.5, OTTHUMT00000327898
    Conserved Domains (2) summary
    COG1770
    Location:24574
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:400603
    Abhydrolase; alpha/beta hydrolases
  2. XM_011533198.2XP_011531500.1  prolyl endopeptidase-like isoform X1

    See identical proteins and their annotated locations for XP_011531500.1

    UniProtKB/Swiss-Prot
    Q4J6C6
    Related
    ENSP00000386509.1, OTTHUMP00000202420, ENST00000410081.5
    Conserved Domains (2) summary
    COG1770
    Location:113649
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:489692
    Abhydrolase; alpha/beta hydrolases
  3. XM_017005385.1XP_016860874.1  prolyl endopeptidase-like isoform X1

    UniProtKB/Swiss-Prot
    Q4J6C6
    Conserved Domains (2) summary
    COG1770
    Location:113649
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:489692
    Abhydrolase; alpha/beta hydrolases
  4. XM_017005384.1XP_016860873.1  prolyl endopeptidase-like isoform X1

    UniProtKB/Swiss-Prot
    Q4J6C6
    Related
    ENSP00000391456.1, OTTHUMP00000202426, ENST00000425263.5, OTTHUMT00000327902
    Conserved Domains (2) summary
    COG1770
    Location:113649
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:489692
    Abhydrolase; alpha/beta hydrolases
  5. XM_011533200.1XP_011531502.1  prolyl endopeptidase-like isoform X1

    See identical proteins and their annotated locations for XP_011531502.1

    UniProtKB/Swiss-Prot
    Q4J6C6
    Conserved Domains (2) summary
    COG1770
    Location:113649
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:489692
    Abhydrolase; alpha/beta hydrolases
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