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PREPL prolyl endopeptidase-like [ Homo sapiens (human) ]

Gene ID: 9581, updated on 8-May-2016
Official Symbol
PREPLprovided by HGNC
Official Full Name
prolyl endopeptidase-likeprovided by HGNC
Primary source
HGNC:HGNC:30228
See related
Ensembl:ENSG00000138078 HPRD:17189; 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
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]
Orthologs
Location:
2p21
Exon count:
16
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 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 LOC105374572 Neighboring gene uncharacterized LOC105374573

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ16627, KIAA0436

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
serine-type exopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
 
cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
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

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, OTTHUMP00000202417, ENST00000378511, OTTHUMT00000327893
    Conserved Domains (2) summary
    COG1770
    Location:113601
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:427588
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  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, OTTHUMP00000202418, ENST00000378520, OTTHUMT00000327894
    Conserved Domains (2) summary
    COG1770
    Location:113583
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:423584
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  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, OTTHUMP00000202421, ENST00000409272, OTTHUMT00000327897
    Conserved Domains (2) summary
    COG1770
    Location:113649
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:489650
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  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, OTTHUMP00000202424, ENST00000409936, OTTHUMT00000327900
    Conserved Domains (2) summary
    COG1770
    Location:113649
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:489650
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  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, OTTHUMP00000202423, ENST00000409411, OTTHUMT00000327899
    Conserved Domains (2) summary
    COG1770
    Location:24574
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:400561
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  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, ENST00000541738
    Conserved Domains (2) summary
    COG1770
    Location:24574
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:400561
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  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, OTTHUMP00000202419, ENST00000260648, OTTHUMT00000327895
    Conserved Domains (2) summary
    COG1770
    Location:113649
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:489650
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011533199.1XP_011531501.1  

    See identical proteins and their annotated locations for XP_011531501.1

    UniProtKB/Swiss-Prot
    Q4J6C6
    Conserved Domains (2) summary
    COG1770
    Location:113649
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:489650
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  2. XM_011533198.1XP_011531500.1  

    See identical proteins and their annotated locations for XP_011531500.1

    UniProtKB/Swiss-Prot
    Q4J6C6
    Related
    ENSP00000386509, OTTHUMP00000202420, ENST00000410081, OTTHUMT00000327896
    Conserved Domains (2) summary
    COG1770
    Location:113649
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:489650
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  3. XM_011533202.1XP_011531504.1  

    See identical proteins and their annotated locations for XP_011531504.1

    UniProtKB/Swiss-Prot
    Q4J6C6
    Related
    ENSP00000387241, OTTHUMP00000202422, ENST00000409957, OTTHUMT00000327898
    Conserved Domains (2) summary
    COG1770
    Location:24574
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:400561
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  4. XM_011533201.1XP_011531503.1  

    Conserved Domains (2) summary
    COG1770
    Location:113649
    PtrB; Protease II [Amino acid transport and metabolism]
    cl21494
    Location:489650
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  5. XM_011533200.1XP_011531502.1  

    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:489650
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    44472451..44516684 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)