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PITRM1 pitrilysin metallopeptidase 1 [ Homo sapiens (human) ]

Gene ID: 10531, updated on 24-Nov-2020

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
109.20201120 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 PFKP divergent transcript 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
GeneReviews: Not available
Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.
GeneReviews: Not available

Pathways from PubChem

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 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

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_001242307.2NP_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_144638.2 RNA Sequence

    Status: REVIEWED

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

    Status: REVIEWED

    Source sequence(s)
    AL451164
  3. NR_144640.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL451164
  4. NR_144641.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL451164

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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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