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    PITRM1 pitrilysin metallopeptidase 1 [ Homo sapiens (human) ]

    Gene ID: 10531, updated on 17-Jun-2019

    Summary

    Official Symbol
    PITRM1provided by HGNC
    Official Full Name
    pitrilysin metallopeptidase 1provided by HGNC
    Primary source
    HGNC:HGNC:17663
    See related
    Ensembl:ENSG00000107959 MIM:618211
    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
    MP1; PreP
    Summary
    The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer's disease. [provided by RefSeq, Dec 2016]
    Annotation information
    Note: The official gene symbol PREP (prolyl endopeptidase) on GeneID: 5550 can be confused with the alias for presequence protease (PREP) on GeneID: 10531 whose official symbol is PITRM1 (pitrilysin metallopeptidase 1). [20 Jun 2018]
    Expression
    Ubiquitous expression in testis (RPKM 24.8), adrenal (RPKM 18.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See PITRM1 in Genome Data Viewer
    Location:
    10p15.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (3137727..3172841, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (3179919..3215033, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927824 Neighboring gene phosphofructokinase, platelet Neighboring gene small nucleolar RNA, C/D box 142 Neighboring gene PITRM1 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 2668 Neighboring gene mucin-5AC-like Neighboring gene uncharacterized LOC107987146

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1104, MGC138192, MGC141929

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enzyme activator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metalloendopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    metallopeptidase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    positive regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein targeting to mitochondrion TAS
    Traceable Author Statement
    more info
     
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    presequence protease, mitochondrial
    Names
    PreP peptidasome
    metalloprotease 1 (pitrilysin family)
    pitrilysin metalloproteinase 1
    NP_001229236.1
    NP_001229238.1
    NP_001334654.1
    NP_001334655.1
    NP_001334656.1
    NP_001334657.1
    NP_001334658.1
    NP_001334659.1
    NP_055704.2

    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_052908.1 RefSeqGene

      Range
      5001..40115
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001242307.1NP_001229236.1  presequence protease, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF061243, AL451164, BC005025
      Consensus CDS
      CCDS55699.1
      UniProtKB/Swiss-Prot
      Q5JRX3
      Related
      ENSP00000370377.2, ENST00000380989.6
      Conserved Domains (4) summary
      COG1026
      Location:441010
      Cym1; Zn-dependent peptidase, M16 (insulinase) family [Posttranslational modification, protein turnover, chaperones]
      pfam00675
      Location:71177
      Peptidase_M16; Insulinase (Peptidase family M16)
      pfam05193
      Location:245432
      Peptidase_M16_C; Peptidase M16 inactive domain
      pfam08367
      Location:506750
      M16C_assoc; Peptidase M16C associated
    2. NM_001242309.1NP_001229238.1  presequence protease, mitochondrial isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an alternate AUG and results an isoform (3) with a distinct N-terminus, compared to isoform 1. The encoded protein likely does not localize to the mitochondrion.
      Source sequence(s)
      AK002061, AK303406, AL451164, BC095422, DA331909
      Consensus CDS
      CCDS55700.1
      UniProtKB/Swiss-Prot
      Q5JRX3
      Related
      ENSP00000401201.2, ENST00000451104.6
      Conserved Domains (4) summary
      COG1026
      Location:20911
      Cym1; Zn-dependent peptidase, M16 (insulinase) family [Posttranslational modification, protein turnover, chaperones]
      pfam00675
      Location:39145
      Peptidase_M16; Insulinase (Peptidase family M16)
      pfam05193
      Location:213400
      Peptidase_M16_C; Peptidase M16 inactive domain
      pfam08367
      Location:474651
      M16C_assoc; Peptidase M16C associated
    3. NM_001347725.2NP_001334654.1  presequence protease, mitochondrial isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) encodes isoform 4.
      Source sequence(s)
      AL451164
    4. NM_001347726.2NP_001334655.1  presequence protease, mitochondrial isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) encodes isoform 5, which likely does not localize to the mitochondrion.
      Source sequence(s)
      AL451164
    5. NM_001347727.2NP_001334656.1  presequence protease, mitochondrial isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) encodes isoform 6, which likely does not localize to the mitochondrion.
      Source sequence(s)
      AL451164
    6. NM_001347728.2NP_001334657.1  presequence protease, mitochondrial isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) encodes isoform 7, which likely does not localize to the mitochondrion.
      Source sequence(s)
      AL451164
      Related
      ENSP00000370382.1, ENST00000380994.5
    7. NM_001347729.1NP_001334658.1  presequence protease, mitochondrial isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) encodes isoform 8, which likely does not localize to the mitochondrion.
      Source sequence(s)
      AL451164
    8. NM_001347730.1NP_001334659.1  presequence protease, mitochondrial isoform 9

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) encodes isoform 9, which likely does not localize to the mitochondrion.
      Source sequence(s)
      AL451164
    9. NM_014889.4NP_055704.2  presequence protease, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_055704.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AL451164, BC005025, BC113369
      Consensus CDS
      CCDS59208.1
      UniProtKB/Swiss-Prot
      Q5JRX3
      Related
      ENSP00000224949.4, ENST00000224949.9
      Conserved Domains (4) summary
      COG1026
      Location:441009
      Cym1; Zn-dependent peptidase, M16 (insulinase) family [Posttranslational modification, protein turnover, chaperones]
      pfam00675
      Location:71177
      Peptidase_M16; Insulinase (Peptidase family M16)
      pfam05193
      Location:245432
      Peptidase_M16_C; Peptidase M16 inactive domain
      pfam08367
      Location:506749
      M16C_assoc; Peptidase M16C associated

    RNA

    1. NR_144638.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL451164
    2. NR_144639.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL451164
    3. NR_144640.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL451164
    4. NR_144641.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL451164

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      3137727..3172841 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001746999.2 RNA Sequence

    2. XR_001747003.2 RNA Sequence

    3. XR_001747004.2 RNA Sequence

    4. XR_001747001.2 RNA Sequence

    5. XR_001747002.2 RNA Sequence

    6. XR_001747000.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014968.1: Suppressed sequence

      Description
      NM_014968.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
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