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Aliases for PITRM1 Gene

Aliases for PITRM1 Gene

  • Pitrilysin Metallopeptidase 1 2 3 5
  • Pitrilysin Metalloproteinase 1 2 3 4
  • Presequence Protease, Mitochondrial 2 3
  • PreP Peptidasome 2 3
  • MP1 3 4
  • Metalloprotease 1 (Pitrilysin Family) 3
  • Metalloprotease 1 4
  • EC 3.4.24.- 4
  • EC 3.4.24 61
  • KIAA1104 4
  • HPreP 4
  • PreP 3
  • HMP1 4

External Ids for PITRM1 Gene

Previous GeneCards Identifiers for PITRM1 Gene

  • GC10M003227
  • GC10M003133
  • GC10M003169

Summaries for PITRM1 Gene

Entrez Gene Summary for PITRM1 Gene

  • 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]

GeneCards Summary for PITRM1 Gene

PITRM1 (Pitrilysin Metallopeptidase 1) is a Protein Coding gene. Diseases associated with PITRM1 include Alzheimer Disease. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PITRM1 Gene

Genomics for PITRM1 Gene

Regulatory Elements for PITRM1 Gene

Enhancers for PITRM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F003089 1.7 FANTOM5 Ensembl ENCODE 14.3 +79.0 78963 8.1 PKNOX1 ARNT SIN3A FOS ZHX2 JUNB SMARCB1 SMARCA4 NBN HMBOX1 PFKP PITRM1 PITRM1-AS1 GC10P003095 LOC101927824
GH10F003171 1.1 ENCODE 18.4 +0.2 157 2.6 HDGF PKNOX1 ATF1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 PITRM1 PITRM1-AS1
GH10F003125 0.8 ENCODE 19.1 +46.0 45965 1.8 PKNOX1 KLF17 SIN3A EBF1 ZIC2 ZNF2 E2F1 ZFHX2 GATA3 GLIS2 PITRM1 PIR36518 GC10P003101
GH10F003135 0.7 ENCODE 16.6 +35.8 35775 2.7 HDAC1 L3MBTL2 MTA2 NR2F1 NRF1 MNT TBX21 POLR2A NR2F6 KDM1A PITRM1 PFKP ENSG00000278419 PITRM1-AS1
GH10F003098 0.9 Ensembl ENCODE 12.4 +73.5 73463 1.4 HDGF CEBPB CEBPG ZFHX2 POLR2A TARDBP CEBPA FOS PRDM1 EGR2 PITRM1-AS1 PITRM1 PFKP GC10P003095 GC10P003101
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PITRM1 on UCSC Golden Path with GeneCards custom track

Promoters for PITRM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000349684 141 2201 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 FOS ZNF263 SP3

Genomic Location for PITRM1 Gene

Chromosome:
10
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

Genes around PITRM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PITRM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PITRM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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;
    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

Selected DME Specific Peptides for PITRM1 Gene

Q5JRX3:
  • GKFTQQDIDEAKLSVFS
  • EIREKGGAYG
  • EIQMKHQSTSFGL
  • AILGPEN
  • HLKQIHE
  • GPNSPFYK
  • SCLPALKVSDIEP
  • QEGWRLE
  • LCGSQKYP
  • NNLFSVQFRTTP
  • FHATHYHPSNARFFTYG
  • RDPFFKM
  • LGTDFSPD
  • KGVVFNEMKG
  • VFNEMKGAFTDNE
  • MKRIAEMTD
  • QIYEKGLEL
  • DSTGVPH
  • QPTNGMVYFRA
  • LIESGLG

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.
  • Ubiquitination at Lys 305 and Lys 884
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cloud-Clone Corp. Antibodies for PITRM1

Domains & Families for PITRM1 Gene

Graphical View of Domain Structure for InterPro Entry

Q5JRX3

UniProtKB/Swiss-Prot:

PREP_HUMAN :
  • Belongs to the peptidase M16 family. PreP subfamily.
Family:
  • Belongs to the peptidase M16 family. PreP subfamily.
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:0004222 metalloendopeptidase activity IMP 16849325
GO:0008047 enzyme activator activity TAS 9733512
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IBA --
genes like me logo Genes that share ontologies with PITRM1: view
genes like me logo Genes that share phenotypes with PITRM1: view

Animal Models for PITRM1 Gene

MGI Knock Outs for PITRM1:

Animal Model Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PITRM1 gene
Compartment Confidence
mitochondrion 5
nucleus 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 IEA,IDA 16849325
genes like me logo Genes that share ontologies with PITRM1: view

Pathways & Interactions 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:0016485 protein processing IBA --
GO:0043085 positive regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with PITRM1: view

No data available for Pathways by source and SIGNOR curated interactions for PITRM1 Gene

Drugs & Compounds for PITRM1 Gene

(1) Drugs for PITRM1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for PITRM1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for PITRM1 Gene

Protein differential expression in normal tissues from HIPED for PITRM1 Gene

This gene is overexpressed in Lymph node (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PITRM1 Gene



Protein tissue co-expression partners for PITRM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PITRM1 Gene:

PITRM1

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 expression patterns with PITRM1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PITRM1 Gene

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 34 35
  • 99.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 92 (a)
OneToMany
-- 35
  • 82 (a)
OneToMany
-- 35
  • 78 (a)
OneToMany
-- 35
  • 75 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia PITRM1 35
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pitrm1 34 16 35
  • 81.72 (n)
rat
(Rattus norvegicus)
Mammalia Pitrm1 34
  • 81.4 (n)
dog
(Canis familiaris)
Mammalia PITRM1 34 35
  • 80.82 (n)
cow
(Bos Taurus)
Mammalia PITRM1 34 35
  • 78.72 (n)
chicken
(Gallus gallus)
Aves PITRM1 34 35
  • 72.23 (n)
lizard
(Anolis carolinensis)
Reptilia PITRM1 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pitrm1 34
  • 69.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC69133 34
zebrafish
(Danio rerio)
Actinopterygii pitrm1 34 35
  • 67.12 (n)
Dr.84 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006616 34
  • 50.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3107 34 35
  • 48.11 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR184W 34
  • 46.75 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYM1 35 37
  • 36 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons PREP1 34
  • 44.31 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01272 34
  • 50.54 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC119.17 34
  • 48.4 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3061 35
  • 44 (a)
OneToOne
Species where no ortholog for PITRM1 was found in the sources mined by GeneCards:
  • 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
rs869025266 Likely benign 3,145,633(-) GAGTA(A/G)AAAGG nc-transcript-variant, reference, missense
rs10175 -- 3,138,106(-) GGGAA(A/G)AGCAC nc-transcript-variant, reference, synonymous-codon
rs1043146 -- 3,137,879(-) TCTAT(C/T)TTAAG nc-transcript-variant, utr-variant-3-prime
rs1043158 -- 3,137,820(-) GATGC(A/C)CCATG nc-transcript-variant, utr-variant-3-prime
rs1043166 -- 3,137,804(-) TTTTC(A/C)CTTTG nc-transcript-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv951239 CNV deletion 24416366
nsv549854 CNV gain 21841781
nsv549818 CNV gain 21841781
nsv549814 CNV loss 21841781
nsv549810 CNV gain 21841781
nsv524854 CNV gain 19592680
nsv470914 CNV gain 18288195
nsv466711 CNV gain 19166990
nsv428229 CNV gain 18775914
nsv1044106 CNV loss 25217958
nsv1039231 CNV loss 25217958
esv3622168 CNV loss 21293372
esv3622167 CNV gain 21293372
esv3545776 CNV deletion 23714750
esv33742 CNV gain 17666407
esv2759726 CNV gain 17122850
esv2750891 CNV loss 17911159
esv2731284 CNV deletion 23290073
esv2730995 CNV deletion 23290073
esv2661288 CNV deletion 23128226
dgv932n54 CNV gain 21841781
dgv35n21 CNV gain 19592680

Variation tolerance for PITRM1 Gene

Residual Variation Intolerance Score: 99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.05; 93.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PITRM1 Gene

Human Gene Mutation Database (HGMD)
PITRM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PITRM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PITRM1 Gene

Disorders for PITRM1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PITRM1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PITRM1

Genetic Association Database (GAD)
PITRM1
Human Genome Epidemiology (HuGE) Navigator
PITRM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PITRM1
genes like me logo Genes that share disorders with PITRM1: view

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

Publications for PITRM1 Gene

  1. 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 64
  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 64
  3. 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 22 64
  4. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M. … Yamada Y. (Am. J. Hypertens. 2010) 3 46 64
  5. Genetic and biochemical studies of SNPs of the mitochondrial A beta-degrading protease, hPreP. (PMID: 19962426) Pinho C.M. … Graff C. (Neurosci. Lett. 2010) 3 46 64

Products for PITRM1 Gene

Sources for PITRM1 Gene

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