The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015] See more...

Aliases for THOP1 Gene

Aliases for THOP1 Gene

  • Thimet Oligopeptidase 1 2 3 5
  • Thimet Oligopeptidase 3 4
  • Endopeptidase 24.15 3 4
  • EC 3.4.24.15 4 52
  • MP78 3 4
  • MEPD_HUMAN 3
  • EC 3.4.24 52
  • EP24.15 3
  • TOP 3

External Ids for THOP1 Gene

Previous GeneCards Identifiers for THOP1 Gene

  • GC19P002848
  • GC19P002725
  • GC19P002736
  • GC19P002554

Summaries for THOP1 Gene

Entrez Gene Summary for THOP1 Gene

  • The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015]

GeneCards Summary for THOP1 Gene

THOP1 (Thimet Oligopeptidase 1) is a Protein Coding gene. Diseases associated with THOP1 include Trypanosomiasis. Among its related pathways are Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics and African trypanosomiasis. Gene Ontology (GO) annotations related to this gene include peptidase activity and peptide binding. An important paralog of this gene is NLN.

UniProtKB/Swiss-Prot Summary for THOP1 Gene

  • Involved in the metabolism of neuropeptides under 20 amino acid residues long. Involved in cytoplasmic peptide degradation. Able to degrade the amyloid-beta precursor protein and generate amyloidogenic fragments.

Gene Wiki entry for THOP1 Gene

Additional gene information for THOP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for THOP1 Gene

Genomics for THOP1 Gene

GeneHancer (GH) Regulatory Elements for THOP1 Gene

Promoters and enhancers for THOP1 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
GH19J002782 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 530.1 -1.3 -1302 5.6 FOXK2 ZBTB40 ZNF217 EP300 CTCF SIN3A TCF12 MYC NRF1 USF1 THOP1 SGTA lnc-SLC39A3-3 ZNF554
GH19J002817 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 23.1 +33.8 33798 4.2 ZNF217 EP300 CTCF TCF12 MYC NRF1 POLR2G USF1 SP1 SIX5 ZNF554 piR-50437-320 ZNF77 CACTIN CACTIN-AS1 SF3A2 THOP1 APBA3 SPPL2B ZNF556
GH19J002773 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 19.1 -10.1 -10129 2.9 NCOR1 SKI ATF2 NR2F2 CREB1 KAT7 SAP130 IRF1 HDAC1 IRF2 THOP1 GADD45B GNA15 SGTA ZNF554 lnc-SLC39A3-3 lnc-SLC39A3-2
GH19J002738 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 13.5 -46.0 -45976 2.4 EP300 RXRA ZBTB40 ZNF217 TCF12 SIN3A USF1 POLR2G SP1 NCOR1 SLC39A3 ENSG00000267001 lnc-SGTA-1 GNA11 THOP1 ZNF554 ZNF77 TLE2 DIRAS1 ZNF555
GH19J002810 Enhancer 0.8 ENCODE 33.1 +26.1 26127 1.9 POLR2G ZIC2 KDM6A ZBTB25 ZKSCAN8 FOXA2 PCBP1 KLF9 TFDP1 SAP130 THOP1 HSALNG0123195
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around THOP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for THOP1

Top Transcription factor binding sites by QIAGEN in the THOP1 gene promoter:
  • CREB
  • deltaCREB
  • SRY

Genomic Locations for THOP1 Gene

Genomic Locations for THOP1 Gene
chr19:2,785,503-2,815,807
(GRCh38/hg38)
Size:
30,305 bases
Orientation:
Plus strand
chr19:2,785,458-2,813,599
(GRCh37/hg19)
Size:
28,142 bases
Orientation:
Plus strand

Genomic View for THOP1 Gene

Genes around THOP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THOP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THOP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THOP1 Gene

Proteins for THOP1 Gene

  • Protein details for THOP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52888-THOP1_HUMAN
    Recommended name:
    Thimet oligopeptidase
    Protein Accession:
    P52888
    Secondary Accessions:
    • B3KSE2
    • Q9UCB3

    Protein attributes for THOP1 Gene

    Size:
    689 amino acids
    Molecular mass:
    78840 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for THOP1 Gene

    Alternative splice isoforms for THOP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for THOP1 Gene

Selected DME Specific Peptides for THOP1 Gene

P52888:
  • LDFPQHVS
  • FYLDLYPR
  • ASTEADK
  • VDQNLLKEYFP
  • AWDMRYYMNQVEETRY
  • ATPGTNMPATFGHLAGGYD
  • KLKPLGEQERAVILELK
  • LRWDLSAQQI
  • DMFHTRFKQEG
  • VERDFVE
  • QYYGYLWSEV
  • YTVQRNILDFPQHVSP
  • RNGLHLP
  • THADYVLEMNMAKTSQ
  • RYLERLIKLGRRNGLHLP
  • ELGGLPEDFLNSLEK
  • FLGRDPKQDAFLLSKGLQV
  • LCIDFNKNLNED
  • KVTLKYPHYFP
  • PSLLQHDEVETYFHEFGHVMHQLCSQAEFAMFSGTHVER
  • EYARLCQEILGVPATPGTNMPATFGHLAGGYDAQYYGYL
  • ILRPGGSEDAS
  • GLFNLRQIVLAKVDQ
  • HAACFGLQPGCL

Post-translational modifications for THOP1 Gene

  • Ubiquitination at Lys538, Lys559, Lys220, Lys239, and Lys301
  • Modification sites at PhosphoSitePlus

Domains & Families for THOP1 Gene

Gene Families for THOP1 Gene

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

Protein Domains for THOP1 Gene

Suggested Antigen Peptide Sequences for THOP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ36073 fis, clone TESTI2019697, highly similar to THIMET OLIGOPEPTIDASE (EC 3.4.24.15) (B3KSE2_HUMAN)
  • Thimet oligopeptidase 1 (Q96CV8_HUMAN)
  • THOP1 protein (Q9BW75_HUMAN)
  • MP78 (THOP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P52888

UniProtKB/Swiss-Prot:

THOP1_HUMAN :
  • Belongs to the peptidase M3 family.
Family:
  • Belongs to the peptidase M3 family.
genes like me logo Genes that share domains with THOP1: view

Function for THOP1 Gene

Molecular function for THOP1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the metabolism of neuropeptides under 20 amino acid residues long. Involved in cytoplasmic peptide degradation. Able to degrade the amyloid-beta precursor protein and generate amyloidogenic fragments.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Preferential cleavage of bonds with hydrophobic residues at P1, P2 and P3' and a small residue at P1' in substrates of 5 to 15 residues.; EC=3.4.24.15;.
GENATLAS Biochemistry:
Thimet oligopeptidase 1,expressed in brain,homolog of the rat metalloendopeptidase 24.15,involved in antigen presentation via MHC class 1

Enzyme Numbers (IUBMB) for THOP1 Gene

Phenotypes From GWAS Catalog for THOP1 Gene

Gene Ontology (GO) - Molecular Function for THOP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA,TAS --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0042277 peptide binding IEA --
genes like me logo Genes that share ontologies with THOP1: view
genes like me logo Genes that share phenotypes with THOP1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for THOP1

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for THOP1 Gene

Localization for THOP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for THOP1 Gene

Cytoplasm.

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 THOP1 gene
Compartment Confidence
cytosol 5
mitochondrion 4
nucleus 3
plasma membrane 2
extracellular 2
endoplasmic reticulum 2
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for THOP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005758 mitochondrial intermembrane space IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with THOP1: view

Pathways & Interactions for THOP1 Gene

genes like me logo Genes that share pathways with THOP1: view

Pathways by source for THOP1 Gene

2 KEGG pathways for THOP1 Gene

SIGNOR curated interactions for THOP1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for THOP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0006508 proteolysis IBA,IEA 21873635
GO:0006518 peptide metabolic process IBA 21873635
genes like me logo Genes that share ontologies with THOP1: view

Drugs & Compounds for THOP1 Gene

(1) Drugs for THOP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for THOP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with THOP1: view

Transcripts for THOP1 Gene

mRNA/cDNA for THOP1 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for THOP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^ 12a · 12b · 12c · 12d ^ 13 ^
SP1: - -
SP2:
SP3: - - - -
SP4: -
SP5:
SP6: -
SP7: - - -
SP8: - -
SP9: - -

ExUns: 14 ^ 15 ^ 16 ^ 17
SP1: - -
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:

Relevant External Links for THOP1 Gene

GeneLoc Exon Structure for
THOP1

Expression for THOP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for THOP1 Gene

Protein differential expression in normal tissues from HIPED for THOP1 Gene

This gene is overexpressed in Lymph node (13.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for THOP1 Gene



Protein tissue co-expression partners for THOP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for THOP1

SOURCE GeneReport for Unigene cluster for THOP1 Gene:

Hs.78769

Evidence on tissue expression from TISSUES for THOP1 Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Lung(4.4)
  • Blood(2.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with THOP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for THOP1 Gene

Orthologs for THOP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for THOP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia THOP1 31 30
  • 96.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia THOP1 31 30
  • 87.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia THOP1 31 30
  • 86.89 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Thop1 30
  • 84.55 (n)
mouse
(Mus musculus)
Mammalia Thop1 17 31 30
  • 84.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia THOP1 31
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia THOP1 31
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves THOP1 31
  • 81 (a)
OneToOne
LOC426398 30
  • 78.45 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia thop1 30
  • 67.02 (n)
Str.15329 30
African clawed frog
(Xenopus laevis)
Amphibia LOC397806 30
zebrafish
(Danio rerio)
Actinopterygii thop1 31
  • 72 (a)
OneToOne
zgc:92139 30
  • 71.96 (n)
wufb74b01 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10066 30
fruit fly
(Drosophila melanogaster)
Insecta CG11771 31 32
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK550.3 31
  • 17 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR406C 30
  • 48.36 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRD1 33 31
  • 35 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G67690 30
  • 45.28 (n)
rice
(Oryza sativa)
Liliopsida Os01g0902200 30
  • 45 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4245 31
  • 59 (a)
OneToMany
Cin.9293 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9293 30
Species where no ortholog for THOP1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)

Evolution for THOP1 Gene

ENSEMBL:
Gene Tree for THOP1 (if available)
TreeFam:
Gene Tree for THOP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for THOP1: view image

Paralogs for THOP1 Gene

Paralogs for THOP1 Gene

(2) SIMAP similar genes for THOP1 Gene using alignment to 10 proteins:

  • THOP1_HUMAN
  • B3KSE2_HUMAN
  • K7EIK4_HUMAN
  • K7EKB6_HUMAN
  • K7EL02_HUMAN
  • K7EL32_HUMAN
  • K7EMU4_HUMAN
  • K7EP46_HUMAN
  • Q96CV8_HUMAN
  • Q9BW75_HUMAN
genes like me logo Genes that share paralogs with THOP1: view

Variants for THOP1 Gene

Additional dbSNP identifiers (rs#s) for THOP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for THOP1 Gene

Variant ID Type Subtype PubMed ID
esv1006393 CNV deletion 20482838
esv1039020 CNV insertion 17803354
esv1432748 CNV deletion 17803354
esv2717912 CNV deletion 23290073
esv2717913 CNV deletion 23290073
nsv509714 CNV insertion 20534489
nsv509715 CNV insertion 20534489
nsv828397 CNV gain 20364138

Variation tolerance for THOP1 Gene

Residual Variation Intolerance Score: 14.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.10; 51.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for THOP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
THOP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for THOP1 Gene

Disorders for THOP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for THOP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
trypanosomiasis
- elite association - COSMIC cancer census association via MalaCards
Search THOP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for THOP1

genes like me logo Genes that share disorders with THOP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for THOP1 Gene

Publications for THOP1 Gene

  1. Increased expression of the oligopeptidase THOP1 is a neuroprotective response to Abeta toxicity. (PMID: 18571100) Pollio G … Terstappen GC (Neurobiology of disease 2008) 3 23 54
  2. Swapping the substrate specificities of the neuropeptidases neurolysin and thimet oligopeptidase. (PMID: 17251185) Lim EJ … Rodgers DW (The Journal of biological chemistry 2007) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for THOP1 Gene

Sources for THOP1 Gene