Aliases for OVCH1 Gene

Aliases for OVCH1 Gene

  • Ovochymase 1 2 3 5
  • Ovochymase-1 3 4
  • OVCH 2 3
  • EC 3.4.21.- 4
  • EC 3.4.21 51
  • OVCH1 5

External Ids for OVCH1 Gene

Previous GeneCards Identifiers for OVCH1 Gene

  • GC12M029476
  • GC12U900395
  • GC12M029471
  • GC12M029580
  • GC12M029348

Summaries for OVCH1 Gene

GeneCards Summary for OVCH1 Gene

OVCH1 (Ovochymase 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is PRSS27.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OVCH1 Gene

Genomics for OVCH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OVCH1 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
GH12J029500 Enhancer 0.2 Ensembl 250.7 -1.4 -1408 0.2 OVCH1 LOC105369714 TMTC1
GH12J029428 Enhancer 1 Ensembl ENCODE 10.4 +70.8 70787 4.2 CEBPB REST GTF2E2 CTCF MAX TRIM22 EP300 RXRA SMC3 ZBTB33 ERGIC2 OVCH1 LOC100506606 piR-37670 OVCH1-AS1 RF00017-1119
GH12J029536 Enhancer 0.7 Ensembl ENCODE 10.4 -37.9 -37869 1.2 CEBPB EP300 STAT3 MAFK MAFF BHLHE40 FOS OVCH1 ENSG00000257456 lnc-OVCH1-2 TMTC1
GH12J029522 Enhancer 0.2 Ensembl 10 -22.4 -22408 0.2 OVCH1 ENSG00000257456 LOC105369714 lnc-OVCH1-2 TMTC1
GH12J029558 Enhancer 0.8 Ensembl ENCODE 0.2 -62.1 -62140 7.1 NR2C1 BRCA1 CEBPB EP300 PRDM1 STAT3 TCF7L2 PRDM6 FOXA1 JUND TMTC1 ENSG00000257456 lnc-OVCH1-2 OVCH1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OVCH1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OVCH1

Top Transcription factor binding sites by QIAGEN in the OVCH1 gene promoter:
  • aMEF-2
  • Bach1
  • C/EBPalpha
  • E47
  • En-1
  • MEF-2
  • MEF-2A
  • USF1

Genomic Locations for OVCH1 Gene

Latest Assembly
chr12:29,412,474-29,499,693
(GRCh38/hg38)
Size:
87,220 bases
Orientation:
Minus strand

Previous Assembly
chr12:29,590,957-29,652,626
(GRCh37/hg19 by Entrez Gene)
Size:
61,670 bases
Orientation:
Minus strand

chr12:29,565,407-29,650,619
(GRCh37/hg19 by Ensembl)
Size:
85,213 bases
Orientation:
Minus strand

Genomic View for OVCH1 Gene

Genes around OVCH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OVCH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OVCH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OVCH1 Gene

Proteins for OVCH1 Gene

  • Protein details for OVCH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7RTY7-OVCH1_HUMAN
    Recommended name:
    Ovochymase-1
    Protein Accession:
    Q7RTY7

    Protein attributes for OVCH1 Gene

    Size:
    1134 amino acids
    Molecular mass:
    125066 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OVCH1 Gene

Selected DME Specific Peptides for OVCH1 Gene

Q7RTY7:
  • DACQGDSGG
  • GDSGGPL
  • SGGPLVC
  • FCGGSLI
  • HFCGGSL
  • CQGDSGGP
  • WILTAAHC

Post-translational modifications for OVCH1 Gene

  • Glycosylation at Asn52, Asn99, Asn324, Asn431, Asn507, and Asn1106
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • OVCH1_HUMAN (2011)

Domains & Families for OVCH1 Gene

Gene Families for OVCH1 Gene

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

Protein Domains for OVCH1 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
ProtoNet:

Suggested Antigen Peptide Sequences for OVCH1 Gene

GenScript: Design optimal peptide antigens:
  • Ovochymase-1 (OVCH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7RTY7

UniProtKB/Swiss-Prot:

OVCH1_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with OVCH1: view

Function for OVCH1 Gene

Enzyme Numbers (IUBMB) for OVCH1 Gene

Phenotypes From GWAS Catalog for OVCH1 Gene

Gene Ontology (GO) - Molecular Function for OVCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with OVCH1: view
genes like me logo Genes that share phenotypes with OVCH1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OVCH1

No data available for Molecular function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OVCH1 Gene

Localization for OVCH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OVCH1 Gene

Secreted.

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 OVCH1 gene
Compartment Confidence
extracellular 4
plasma membrane 2
endoplasmic reticulum 0
lysosome 0

Gene Ontology (GO) - Cellular Components for OVCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with OVCH1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OVCH1 Gene

Pathways & Interactions for OVCH1 Gene

PathCards logo

SuperPathways for OVCH1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for OVCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with OVCH1: view

No data available for Pathways by source and SIGNOR curated interactions for OVCH1 Gene

Drugs & Compounds for OVCH1 Gene

No Compound Related Data Available

Transcripts for OVCH1 Gene

mRNA/cDNA for OVCH1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OVCH1

Alternative Splicing Database (ASD) splice patterns (SP) for OVCH1 Gene

No ASD Table

Relevant External Links for OVCH1 Gene

GeneLoc Exon Structure for
OVCH1

Expression for OVCH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OVCH1 Gene

mRNA differential expression in normal tissues according to GTEx for OVCH1 Gene

This gene is overexpressed in Testis (x4.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OVCH1 Gene



Protein tissue co-expression partners for OVCH1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OVCH1

SOURCE GeneReport for Unigene cluster for OVCH1 Gene:

Hs.674588
genes like me logo Genes that share expression patterns with OVCH1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for OVCH1 Gene

Orthologs for OVCH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for OVCH1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia OVCH1 30 31
  • 98.27 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia OVCH1 30 31
  • 80.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia OVCH1 31
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia OVCH1 31
  • 35 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia OVCH1 31
  • 40 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ovch1 30
  • 51.31 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:55888 30
  • 44.95 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG11836 31
  • 34 (a)
ManyToMany
CG3355 31
  • 31 (a)
ManyToMany
CG4914 31
  • 31 (a)
ManyToMany
CG9294 31
  • 30 (a)
ManyToMany
CG18735 31
  • 30 (a)
ManyToMany
CG4613 31
  • 28 (a)
ManyToMany
CG6865 31
  • 28 (a)
ManyToMany
CG4386 31
  • 27 (a)
ManyToMany
CG9372 31
  • 24 (a)
ManyToMany
CG14642 31
  • 23 (a)
ManyToMany
CG11843 31
  • 23 (a)
ManyToMany
CG11842 31
  • 22 (a)
ManyToMany
CG3700 31
  • 22 (a)
ManyToMany
CG31728 31
  • 22 (a)
ManyToMany
CG1299 31
  • 22 (a)
ManyToMany
CG14892 31
  • 22 (a)
ManyToMany
CG4927 31
  • 21 (a)
ManyToMany
spirit 31
  • 21 (a)
ManyToMany
CG11841 31
  • 20 (a)
ManyToMany
psh 31
  • 20 (a)
ManyToMany
CG11670 31
  • 19 (a)
ManyToMany
snk 31
  • 19 (a)
ManyToMany
CG11668 31
  • 19 (a)
ManyToMany
CG32260 31
  • 19 (a)
ManyToMany
CG8172 31
  • 18 (a)
ManyToMany
CG7432 31
  • 18 (a)
ManyToMany
CG6361 31
  • 17 (a)
ManyToMany
Sb 31
  • 16 (a)
ManyToMany
CG34350 31
  • 14 (a)
ManyToMany
CG8213 31
  • 9 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6617 31
  • 34 (a)
OneToMany
Species where no ortholog for OVCH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for OVCH1 Gene

ENSEMBL:
Gene Tree for OVCH1 (if available)
TreeFam:
Gene Tree for OVCH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OVCH1: view image

Paralogs for OVCH1 Gene

Variants for OVCH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OVCH1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs10843438 - p.Arg133Cys
rs11050243 - p.Ser672Phe
rs12305672 - p.Gly754Arg
rs1347570 - p.Pro881Ala
rs35183403 - p.Leu557Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OVCH1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for OVCH1 Gene

Variant ID Type Subtype PubMed ID
esv3580214 CNV loss 25503493
nsv469190 CNV gain 19166990
nsv525100 CNV loss 19592680
nsv527807 CNV loss 19592680
nsv557917 CNV gain 21841781

Variation tolerance for OVCH1 Gene

Gene Damage Index Score: 13.51; 95.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OVCH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OVCH1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OVCH1 Gene

Disorders for OVCH1 Gene

Additional Disease Information for OVCH1

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for OVCH1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OVCH1 Gene

Publications for OVCH1 Gene

  1. Human and mouse proteases: a comparative genomic approach. (PMID: 12838346) Puente XS … López-Otín C (Nature reviews. Genetics 2003) 2 3 4
  2. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 3 4
  3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3
  4. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PMID: 17903299) Kathiresan S … Cupples LA (BMC medical genetics 2007) 41

Products for OVCH1 Gene

Sources for OVCH1 Gene