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] See more...

Aliases for PITRM1 Gene

Aliases for PITRM1 Gene

  • Pitrilysin Metallopeptidase 1 2 3 5
  • Presequence Protease, Mitochondrial 2 3 4
  • Pitrilysin Metalloproteinase 1 2 3 4
  • PreP Peptidasome 2 3
  • MP1 3 4
  • Metalloprotease 1 (Pitrilysin Family) 3
  • Metalloprotease 1 4
  • EC 3.4.24.- 4
  • EC 3.4.24 52
  • KIAA1104 4
  • HPreP 4
  • PreP 3
  • PREP 4
  • HMP1 4

External Ids for PITRM1 Gene

Previous GeneCards Identifiers for PITRM1 Gene

  • GC10M003227
  • GC10M003133
  • GC10M003169
  • GC10M003179

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 Conduct Disorder and Berylliosis. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity and enzyme activator activity. An important paralog of this gene is NRDC.

UniProtKB/Swiss-Prot Summary for PITRM1 Gene

  • Metalloendopeptidase of the mitochondrial matrix that functions in peptide cleavage and degradation rather than in protein processing (PubMed:10360838, PubMed:16849325, PubMed:19196155, PubMed:24931469). Has an ATP-independent activity (PubMed:16849325). Specifically cleaves peptides in the range of 5 to 65 residues (PubMed:19196155). Shows a preference for cleavage after small polar residues and before basic residues, but without any positional preference (PubMed:10360838, PubMed:19196155, PubMed:24931469). Degrades the transit peptides of mitochondrial proteins after their cleavage (PubMed:19196155). Also degrades other unstructured peptides (PubMed:19196155). It is also able to degrade amyloid-beta protein 40, one of the peptides produced by APP processing, when it accumulates in mitochondrion (PubMed:16849325, PubMed:24931469). It is a highly efficient protease, at least toward amyloid-beta protein 40 (PubMed:24931469). Cleaves that peptide at a specific position and is probably not processive, releasing digested peptides intermediates that can be further cleaved subsequently (PubMed:24931469).

Gene Wiki entry for PITRM1 Gene

Additional gene information for PITRM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PITRM1 Gene

Genomics for PITRM1 Gene

GeneHancer (GH) Regulatory Elements for PITRM1 Gene

Promoters and enhancers for PITRM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J003171 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 518.3 +0.1 140 3 TCF12 NRF1 POLR2G SP1 PHF8 ZFX ZIC2 REST POLR2A CLOCK PITRM1 lnc-KLF6-16
GH10J003174 Enhancer 0.2 FANTOM5 500.7 -1.7 -1673 0.2 PITRM1 lnc-PFKP-18
GH10J003314 Enhancer 1.1 Ensembl ENCODE 21.3 -141.6 -141642 1.8 ZSCAN5C ZNF300 RBAK FOS ZNF639 ZNF354C ZNF10 REST ZBTB10 ZNF623 LOC105376356 lnc-PITRM1-4 PITRM1-AS1 PITRM1 LOC105376360 lnc-PFKP-29
GH10J003125 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 19.2 +45.9 45852 2 EP300 ZIC2 ZNF423 ZNF341 OSR2 SIN3A MYC KLF9 WT1 SP2 PITRM1 piR-43519 lnc-AKR1E2-13 PFKP
GH10J003089 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 14.3 +79.0 78962 8.1 ZNF217 ZSCAN5C NRF1 TCF12 NCOR1 JUND FOS TEAD4 ZNF639 ZBTB11 PFKP PITRM1 PITRM1-AS1 L13713-022 piR-48209-042
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PITRM1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PITRM1

Top Transcription factor binding sites by QIAGEN in the PITRM1 gene promoter:
  • AML1a
  • C/EBPalpha
  • CBF(2)
  • HNF-1
  • HNF-1A
  • NF-kappaB
  • NF-kappaB1
  • NF-Y
  • SEF-1 (1)

Genomic Locations for PITRM1 Gene

Genomic Locations for PITRM1 Gene
chr10:3,137,727-3,172,841
(GRCh38/hg38)
Size:
35,115 bases
Orientation:
Minus strand
chr10:3,179,919-3,215,033
(GRCh37/hg19)
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:
    • Monomer and homodimer; homodimerization is induced by binding of the substrate.
    SequenceCaution:
    • Sequence=AAH01150.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

  • A disulfide bond locks the enzyme in the closed conformation preventing substrate entry into the catalytic chamber.
  • Ubiquitination at Lys305 and Lys884
  • Modification sites at PhosphoSitePlus

Domains & Families for PITRM1 Gene

Gene Families for PITRM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PITRM1 Gene

Blocks:
  • Peptidase M16C associated
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PITRM1 Gene

GenScript: Design optimal peptide antigens:
  • Pitrilysin metallopeptidase 1 (B1APQ0_HUMAN)
  • Pitrilysin metallopeptidase 1 (B1APQ1_HUMAN)
  • Pitrilysin metallopeptidase 1 (B1APQ2_HUMAN)
  • Pitrilysin metallopeptidase 1 (B1APQ3_HUMAN)
  • Pitrilysin metalloproteinase 1 (PREP_HUMAN)

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

Function for PITRM1 Gene

Molecular function for PITRM1 Gene

UniProtKB/Swiss-Prot Function:
Metalloendopeptidase of the mitochondrial matrix that functions in peptide cleavage and degradation rather than in protein processing (PubMed:10360838, PubMed:16849325, PubMed:19196155, PubMed:24931469). Has an ATP-independent activity (PubMed:16849325). Specifically cleaves peptides in the range of 5 to 65 residues (PubMed:19196155). Shows a preference for cleavage after small polar residues and before basic residues, but without any positional preference (PubMed:10360838, PubMed:19196155, PubMed:24931469). Degrades the transit peptides of mitochondrial proteins after their cleavage (PubMed:19196155). Also degrades other unstructured peptides (PubMed:19196155). It is also able to degrade amyloid-beta protein 40, one of the peptides produced by APP processing, when it accumulates in mitochondrion (PubMed:16849325, PubMed:24931469). It is a highly efficient protease, at least toward amyloid-beta protein 40 (PubMed:24931469). Cleaves that peptide at a specific position and is probably not processive, releasing digested peptides intermediates that can be further cleaved subsequently (PubMed:24931469).
UniProtKB/Swiss-Prot EnzymeRegulation:
Mainly exists in a closed and catalytically competent conformation but a closed-to-open switch allows substrate entry into the catalytic chamber (PubMed:24931469). Substrate binding induces closure and dimerization (PubMed:24931469). A disulfide bond may lock the enzyme in a closed conformation preventing substrate entry into the catalytic chamber, participating in redox regulation of the enzyme (Probable). Inhibited by metal-chelating agents (PubMed:10360838). Inhibited by nickel and zinc excess, and slightly activated by manganese (PubMed:19196155).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.07 uM for leumorphin ARG-ARG-GLN-PHE-LYS-VAL-VAL-THR-ARG- SER-GLN peptide (at pH 7.5) {ECO:0000269 PubMed:19196155}; KM=0.5 uM for TYR-GLY-GLY-LEU-ARG-ARG-GLY-GLN peptide (at pH 7.5) {ECO:0000269 PubMed:19196155}; pH dependence: Optimum pH is 7.7. {ECO:0000269 PubMed:10360838};

Enzyme Numbers (IUBMB) for PITRM1 Gene

Phenotypes From GWAS Catalog 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 EXP 19962426
GO:0008270 zinc ion binding IDA 24931469
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:
  • Pitrm1 Pitrm1<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PITRM1

Clone 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
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PITRM1 Gene

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

Pathways & Interactions for PITRM1 Gene

PathCards logo

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:0006626 protein targeting to mitochondrion TAS --
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

mRNA/cDNA for PITRM1 Gene

10 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PITRM1

Clone 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

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, MaxQB, and MOPED for PITRM1 Gene



Protein tissue co-expression partners for PITRM1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for PITRM1 Gene

  • Nervous system(5)
  • Lung(4.8)
  • Liver(4.4)
  • Kidney(2.5)
  • Eye(2.3)
  • Adrenal gland(2.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with PITRM1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.07 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 92 (a)
OneToMany
-- 31
  • 82 (a)
OneToMany
-- 31
  • 78 (a)
OneToMany
-- 31
  • 75 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia PITRM1 31
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pitrm1 17 31 30
  • 81.72 (n)
rat
(Rattus norvegicus)
Mammalia Pitrm1 30
  • 81.4 (n)
dog
(Canis familiaris)
Mammalia PITRM1 31 30
  • 80.82 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PITRM1 31 30
  • 78.72 (n)
OneToOne
chicken
(Gallus gallus)
Aves PITRM1 31 30
  • 72.23 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PITRM1 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pitrm1 30
  • 69.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC69133 30
zebrafish
(Danio rerio)
Actinopterygii pitrm1 31 30
  • 67.12 (n)
OneToOne
Dr.84 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006616 30
  • 50.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3107 31 30
  • 48.11 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR184W 30
  • 46.75 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYM1 33 31
  • 36 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PREP1 30
  • 44.31 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01272 30
  • 50.54 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC119.17 30
  • 48.4 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3061 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PITRM1: view image

Paralogs for PITRM1 Gene

Paralogs for PITRM1 Gene

genes like me logo Genes that share paralogs with PITRM1: view

Variants for PITRM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PITRM1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
684532 Not Provided: not provided 3,140,811(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
708492 Benign: not provided 3,159,050(-) G/GA INTRON_VARIANT
712040 Benign: not provided 3,151,264(-) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
714094 Benign: not provided 3,140,749(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
715910 Likely Benign: not provided 3,147,584(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PITRM1 Gene

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

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

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
conduct disorder
berylliosis
  • beryllium poisoning
amyotrophic lateral sclerosis 11
  • als11
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PITRM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The Journal of biological chemistry 2006) 2 3 4 54
  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 research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 54
  3. Cloning, expression, and characterization of human metalloprotease 1: a novel member of the pitrilysin family of metalloendoproteases. (PMID: 10360838) Mzhavia N … Devi LA (DNA and cell biology 1999) 3 4 23 54
  4. Molecular basis of substrate recognition and degradation by human presequence protease. (PMID: 24931469) King JV … Tang WJ (Structure (London, England : 1993) 2014) 3 4 54
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54

Products for PITRM1 Gene

Sources for PITRM1 Gene