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    PGPEP1L pyroglutamyl-peptidase I like [ Homo sapiens (human) ]

    Gene ID: 145814, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PGPEP1Lprovided by HGNC
    Official Full Name
    pyroglutamyl-peptidase I likeprovided by HGNC
    Primary source
    HGNC:HGNC:27080
    See related
    Ensembl:ENSG00000183571 AllianceGenome:HGNC:27080
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable pyroglutamyl-peptidase activity. Predicted to be involved in proteolysis. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See PGPEP1L in Genome Data Viewer
    Location:
    15q26.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (98968229..99007792, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (96732626..96772141, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (99511458..99551021, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene insulin like growth factor 1 receptor Neighboring gene Sharpr-MPRA regulatory region 1759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99340181-99340972 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:99342674-99343369 Neighboring gene microRNA 4714 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:99365701-99366259 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99366260-99366818 Neighboring gene NANOG hESC enhancer GRCh37_chr15:99370256-99370757 Neighboring gene uncharacterized LOC124903561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99427064-99427656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99427657-99428249 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:99439536-99440735 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99451095-99451595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10146 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6859 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99558507-99559282 Neighboring gene leukemia-associated non-coding IGF1R activator RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99601057-99601658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99601659-99602258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99640383-99641189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6864 Neighboring gene SYNM antisense RNA 1 Neighboring gene synemin

    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 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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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

    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

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    pyroglutamyl-peptidase 1-like protein
    NP_001096082.2
    NP_001161374.1
    NP_001399058.1
    NP_001399059.1

    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.

    mRNA and Protein(s)

    1. NM_001102612.2 → NP_001096082.2  pyroglutamyl-peptidase 1-like protein isoform 1

      See identical proteins and their annotated locations for NP_001096082.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the allele encoded by the GRCh38 reference genome and encodes isoform 1.
      Source sequence(s)
      AC036108, AK058162, BC104743, BC104744
      Consensus CDS
      CCDS53977.1
      UniProtKB/Swiss-Prot
      A6NFU8, H0YF86
      UniProtKB/TrEMBL
      A0A1B0GWH3
      Related
      ENSP00000368199.6, ENST00000378919.6
      Conserved Domains (1) summary
      cl00237
      Location:8 → 152
      Peptidase_C15; Pyroglutamyl peptidase (PGP) type I, also known as pyrrolidone carboxyl peptidase (pcp) type I: Enzymes responsible for cleaving pyroglutamate (pGlu) from the N-terminal end of specialized proteins. The N-terminal pGlu protects these proteins from ...

    2. NM_001167902.2 → NP_001161374.1  pyroglutamyl-peptidase 1-like protein isoform 2

      See identical proteins and their annotated locations for NP_001161374.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. It also represents the allele encoded by the GRCh38 reference genome. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC036108, AC069029, AK058162, BC104743, BC104744
      Consensus CDS
      CCDS58400.1
      UniProtKB/Swiss-Prot
      A6NFU8
      Related
      ENSP00000437560.1, ENST00000535714.2
      Conserved Domains (1) summary
      cl00237
      Location:5 → 98
      Peptidase_C15; Pyroglutamyl peptidase (PGP) type I, also known as pyrrolidone carboxyl peptidase (pcp) type I: Enzymes responsible for cleaving pyroglutamate (pGlu) from the N-terminal end of specialized proteins. The N-terminal pGlu protects these proteins from ...

    3. NM_001412129.1 → NP_001399058.1  pyroglutamyl-peptidase 1-like protein isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses the same exon combination as variant 2 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (3) has a frameshifted C-terminus compared to isoform 2.
      Source sequence(s)
      CP068263

    4. NM_001412130.1 → NP_001399059.1  pyroglutamyl-peptidase 1-like protein isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses the same exon combination as variant 1 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (4) has a frameshifted C-terminus compared to isoform 1.
      Source sequence(s)
      CP068263

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      98968229..99007792 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      96732626..96772141 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NFU8.4 GenPept UniProtKB/Swiss-Prot:A6NFU8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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