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Aliases for PITRM1 Gene

Aliases for PITRM1 Gene

  • Pitrilysin Metallopeptidase 1 2 3
  • Pitrilysin Metalloproteinase 1 2 3 4
  • PreP Peptidasome 2 3
  • MP1 3 4
  • Metalloprotease 1 (Pitrilysin Family) 3
  • Presequence Protease, Mitochondrial 3
  • Metalloprotease 1 4
  • EC 3.4.24.- 4
  • EC 3.4.24 64
  • KIAA1104 4
  • HPreP 4
  • PreP 3
  • HMP1 4

External Ids for PITRM1 Gene

Summaries for PITRM1 Gene

GeneCards Summary for PITRM1 Gene

PITRM1 (Pitrilysin Metallopeptidase 1) is a Protein Coding gene. GO annotations related to this gene include metalloendopeptidase activity and enzyme activator activity.

UniProtKB/Swiss-Prot for PITRM1 Gene

  • ATP-independent protease that degrades mitochondrial transit peptides after their cleavage. Also degrades other unstructured peptides. Specific for peptides in the range of 10 to 65 residues. Able to degrade amyloid beta A4 (APP) protein when it accumulates in mitochondrion, suggesting a link with Alzheimer disease. Shows a preference for cleavage after small polar residues and before basic residues, but without any positional preference.

Gene Wiki entry for PITRM1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PITRM1 Gene

Genomics for PITRM1 Gene

Genomic Location for PITRM1 Gene

Start:
3,137,727 bp from pter
End:
3,172,841 bp from pter
Size:
35,115 bases
Orientation:
Minus strand

Genomic View for PITRM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PITRM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PITRM1 Gene

Regulatory Elements for PITRM1 Gene

Proteins for PITRM1 Gene

  • Protein details for PITRM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JRX3-PREP_HUMAN
    Recommended name:
    Presequence protease, mitochondrial
    Protein Accession:
    Q5JRX3
    Secondary Accessions:
    • B3KMJ6
    • B4E0J8
    • C9JSL2
    • E7ES23
    • O95204
    • Q2M2G6
    • Q4VBR1
    • Q5JRW7
    • Q7L5Z7
    • Q9BSI6
    • Q9BVJ5
    • Q9UPP8

    Protein attributes for PITRM1 Gene

    Size:
    1037 amino acids
    Molecular mass:
    117413 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAH01150.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI39997.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PITRM1 Gene

    Alternative splice isoforms for PITRM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PITRM1 Gene

Proteomics data for PITRM1 Gene at MOPED

Post-translational modifications for PITRM1 Gene

  • The disulfide bond may lock the enzyme in a closed conformation under oxidized conditions, suggesting that it may participate in redox regulation of the enzyme
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys305 and Lys884

Domains for PITRM1 Gene

UniProtKB/Swiss-Prot:

PREP_HUMAN
Family:
  • Belongs to the peptidase M16 family. PreP subfamily.:
    • Q5JRX3
genes like me logo Genes that share domains with PITRM1: view

No data available for Gene Families for PITRM1 Gene

Function for PITRM1 Gene

Molecular function for PITRM1 Gene

UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by nickel and zinc excess, and slightly activated by manganese.
UniProtKB/Swiss-Prot Function: ATP-independent protease that degrades mitochondrial transit peptides after their cleavage. Also degrades other unstructured peptides. Specific for peptides in the range of 10 to 65 residues. Able to degrade amyloid beta A4 (APP) protein when it accumulates in mitochondrion, suggesting a link with Alzheimer disease. Shows a preference for cleavage after small polar residues and before basic residues, but without any positional preference.

Enzyme Numbers (IUBMB) for PITRM1 Gene

Gene Ontology (GO) - Molecular Function for PITRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004222 metalloendopeptidase activity IMP 16849325
GO:0008047 enzyme activator activity TAS 9733512
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PITRM1: view

Phenotypes for PITRM1 Gene

MGI mutant phenotypes for PITRM1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with PITRM1: view

miRNA for PITRM1 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for PITRM1 Gene

Localization for PITRM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PITRM1 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PITRM1 Gene COMPARTMENTS Subcellular localization image for PITRM1 gene
Compartment Confidence
mitochondrion 5
nucleus 4
chloroplast 1

Gene Ontology (GO) - Cellular Components for PITRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix IDA 16849325
genes like me logo Genes that share ontologies with PITRM1: view

Pathways for PITRM1 Gene

SuperPathways for PITRM1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PITRM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IMP 16849325
GO:0008152 metabolic process --
GO:0043085 positive regulation of catalytic activity TAS 9733512
genes like me logo Genes that share ontologies with PITRM1: view

No data available for Pathways by source for PITRM1 Gene

Compounds for PITRM1 Gene

(2) Novoseek inferred chemical compound relationships for PITRM1 Gene

Compound -log(P) Hits PubMed IDs
matrigel 43.2 1
1,10-phenanthroline 39.3 1
genes like me logo Genes that share compounds with PITRM1: view

Transcripts for PITRM1 Gene

Unigene Clusters for PITRM1 Gene

Pitrilysin metallopeptidase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PITRM1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c · 10d · 10e ^
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4:
SP5: - - - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - - - - - -
SP9: - - - - - - - - - -
SP10: - - - -
SP11: -
SP12:
SP13: - - - - - -
SP14: - - - -
SP15: -
SP16: - - - - - -
SP17:
SP18:
SP19:
SP20:

ExUns: 11a · 11b · 11c · 11d ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28a · 28b ^
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: - - -
SP19:
SP20:

ExUns: 29a · 29b ^ 30a · 30b ^ 31a · 31b ^ 32a · 32b
SP1: -
SP2: -
SP3: -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19: - -
SP20:

Relevant External Links for PITRM1 Gene

GeneLoc Exon Structure for
PITRM1
ECgene alternative splicing isoforms for
PITRM1

Expression for PITRM1 Gene

mRNA expression in normal human tissues for PITRM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PITRM1 Gene

SOURCE GeneReport for Unigene cluster for PITRM1 Gene Hs.528300

mRNA Expression by UniProt/SwissProt for PITRM1 Gene

Q5JRX3-PREP_HUMAN
Tissue specificity: Widely expressed. Expressed at higher level in muscle and heart compared to brain, pancreas, liver, lung and placenta.
genes like me logo Genes that share expressions with PITRM1: view

Orthologs for PITRM1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PITRM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PITRM1 36
  • 99.07 (n)
  • 99.23 (a)
PITRM1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PITRM1 36
  • 78.72 (n)
  • 82.41 (a)
PITRM1 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PITRM1 36
  • 80.82 (n)
  • 82.3 (a)
PITRM1 37
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pitrm1 36
  • 81.72 (n)
  • 86.68 (a)
Pitrm1 16
Pitrm1 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PITRM1 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 92 (a)
OneToMany
-- 37
  • 75 (a)
OneToMany
-- 37
  • 78 (a)
OneToMany
-- 37
  • 82 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pitrm1 36
  • 81.4 (n)
  • 85.24 (a)
chicken
(Gallus gallus)
Aves PITRM1 36
  • 72.23 (n)
  • 76.92 (a)
PITRM1 37
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PITRM1 37
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC69133 36
tropical clawed frog
(Silurana tropicalis)
Amphibia pitrm1 36
  • 69.8 (n)
  • 75.32 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.84 36
pitrm1 36
  • 67.12 (n)
  • 68.56 (a)
pitrm1 37
  • 68 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006616 36
  • 50.78 (n)
  • 43.2 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3107 36
  • 48.11 (n)
  • 40.7 (a)
CG3107 37
  • 38 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR184W 36
  • 46.75 (n)
  • 38.99 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYM1 37
  • 36 (a)
OneToOne
CYM1 39
thale cress
(Arabidopsis thaliana)
eudicotyledons PREP1 36
  • 44.31 (n)
  • 34.28 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01272 36
  • 50.54 (n)
  • 42.68 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC119.17 36
  • 48.4 (n)
  • 40.61 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3061 37
  • 44 (a)
OneToOne
Species with no ortholog for PITRM1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PITRM1 Gene

ENSEMBL:
Gene Tree for PITRM1 (if available)
TreeFam:
Gene Tree for PITRM1 (if available)

Paralogs for PITRM1 Gene

No data available for Paralogs for PITRM1 Gene

Variants for PITRM1 Gene

Sequence variations from dbSNP and Humsavar for PITRM1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs6901 - 3,138,035(-) CATCC(A/G)ATGAG reference, missense, nc-transcript-variant
rs9129 -- 3,137,776(-) TACCT(C/G)ATTCT utr-variant-3-prime, nc-transcript-variant
rs10175 -- 3,138,106(-) GGGAA(A/G)AGCAC synonymous-codon, reference, nc-transcript-variant
rs11414 -- 3,138,124(-) CTCAG(A/C/G)TACCT reference, missense, synonymous-codon, nc-transcript-variant
rs12678 -- 3,137,983(-) CCTCC(A/G)AGCTG utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for PITRM1 Gene

Variant ID Type Subtype PubMed ID
dgv212e1 CNV Complex 17122850
nsv428229 CNV Gain 18775914
nsv894753 CNV Gain 21882294
esv2730995 CNV Deletion 23290073
nsv894759 CNV Gain 21882294
nsv894762 CNV Gain 21882294
dgv593n71 CNV Loss 21882294
nsv894767 CNV Gain 21882294
dgv595n71 CNV Loss 21882294
nsv894770 CNV Gain 21882294
esv2750891 CNV Loss 17911159
nsv894778 CNV Loss 21882294
nsv894779 CNV Loss 21882294
nsv466711 CNV Gain 19166990
nsv894780 CNV Gain 21882294
nsv524854 CNV Gain 19592680
nsv894781 CNV Gain 21882294
nsv470914 CNV Gain 18288195
dgv35n21 CNV Gain 19592680
esv33742 CNV Gain 17666407
esv2661288 CNV Deletion 23128226
esv2731284 CNV Deletion 23290073

Relevant External Links for PITRM1 Gene

HapMap Linkage Disequilibrium report
PITRM1
Human Gene Mutation Database (HGMD)
PITRM1

Disorders for PITRM1 Gene

(2) Novoseek inferred disease relationships for PITRM1 Gene

Disease -log(P) Hits PubMed IDs
necrosis 0 2
tumors 0 1

Relevant External Links for PITRM1

Genetic Association Database (GAD)
PITRM1
Human Genome Epidemiology (HuGE) Navigator
PITRM1
genes like me logo Genes that share disorders with PITRM1: view

No data available for UniProtKB/Swiss-Prot for PITRM1 Gene

Publications for PITRM1 Gene

  1. Cloning, expression, and characterization of human metalloprotease 1: a novel member of the pitrilysin family of metalloendoproteases. (PMID: 10360838) Mzhavia N. … Devi L.A. (DNA Cell Biol. 1999) 3 4 23
  2. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R. … Ohara O. (DNA Res. 1999) 2 3 4
  3. Degradation of the amyloid beta-protein by the novel mitochondrial peptidasome, PreP. (PMID: 16849325) Falkevall A. … Glaser E. (J. Biol. Chem. 2006) 2 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4

Products for PITRM1 Gene

Sources for PITRM1 Gene

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