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    OVCH1 ovochymase 1 [ Homo sapiens (human) ]

    Gene ID: 341350, updated on 3-Apr-2024

    Summary

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    Official Symbol
    OVCH1provided by HGNC
    Official Full Name
    ovochymase 1provided by HGNC
    Primary source
    HGNC:HGNC:23080
    See related
    Ensembl:ENSG00000187950 AllianceGenome:HGNC:23080
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OVCH
    Summary
    Predicted to enable metal ion binding activity and serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
    NEW
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    Genomic context

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    Location:
    12p11.22
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (29402168..29497686, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (29274652..29369816, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (29592786..29650619, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene fatty acyl-CoA reductase 2 Neighboring gene uncharacterized LOC100506606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6157 Neighboring gene ERGIC and golgi 2 Neighboring gene OVCH1 antisense RNA 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27770 Neighboring gene uncharacterized LOC105369714 Neighboring gene uncharacterized LOC124902909 Neighboring gene transmembrane O-mannosyltransferase targeting cadherins 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The finished DNA sequence of human chromosome 12. Scherer SE, et al. Nature, 2006 Mar 16. PMID 16541075
    2. Human and mouse proteases: a comparative genomic approach. Puente XS, et al. Nat Rev Genet, 2003 Jul. PMID 12838346
    3. USP7 targets XIAP for cancer progression: Establishment of a p53-independent therapeutic avenue for glioma. Saha G, et al. Oncogene, 2022 Nov. PMID 36243803
    4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ovochymase-1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001353179.2 → NP_001340108.1  ovochymase-1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC012151
      Consensus CDS
      CCDS91669.1
      UniProtKB/Swiss-Prot
      H0YH00, Q7RTY7
      Related
      ENSP00000445480.2, ENST00000537054.2
      Conserved Domains (3) summary
      cd00041
      Location:454 → 565
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00190
      Location:610 → 845
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      cl00049
      Location:1022 → 1088
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      29402168..29497686 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448968.2 → XP_024304736.1  ovochymase-1 isoform X1

      UniProtKB/Swiss-Prot
      H0YH00, Q7RTY7
      Conserved Domains (2) summary
      cd00041
      Location:454 → 565
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00190
      Location:610 → 845
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

    2. XM_047428780.1 → XP_047284736.1  ovochymase-1 isoform X6

    3. XM_011520638.3 → XP_011518940.1  ovochymase-1 isoform X2

      UniProtKB/Swiss-Prot
      H0YH00, Q7RTY7
      Conserved Domains (3) summary
      smart00020
      Location:609 → 842
      Tryp_SPc; Trypsin-like serine protease
      cd00041
      Location:454 → 565
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00190
      Location:610 → 845
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

    4. XM_047428777.1 → XP_047284733.1  ovochymase-1 isoform X3

    5. XM_047428779.1 → XP_047284735.1  ovochymase-1 isoform X3

    6. XM_047428778.1 → XP_047284734.1  ovochymase-1 isoform X3

    7. XM_017019256.2 → XP_016874745.1  ovochymase-1 isoform X3

      UniProtKB/Swiss-Prot
      H0YH00, Q7RTY7

    8. XM_011520641.3 → XP_011518943.1  ovochymase-1 isoform X4

      See identical proteins and their annotated locations for XP_011518943.1

      Conserved Domains (3) summary
      smart00020
      Location:46 → 291
      Tryp_SPc; Trypsin-like serine protease
      cd00041
      Location:454 → 565
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00190
      Location:58 → 294
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

    9. XM_011520640.3 → XP_011518942.1  ovochymase-1 isoform X4

      See identical proteins and their annotated locations for XP_011518942.1

      Conserved Domains (3) summary
      smart00020
      Location:46 → 291
      Tryp_SPc; Trypsin-like serine protease
      cd00041
      Location:454 → 565
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00190
      Location:58 → 294
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

    10. XM_011520642.3 → XP_011518944.1  ovochymase-1 isoform X5

      Conserved Domains (4) summary
      smart00020
      Location:46 → 291
      Tryp_SPc; Trypsin-like serine protease
      cd00041
      Location:454 → 565
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00190
      Location:58 → 294
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      cl21584
      Location:610 → 680
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

    11. XM_047428781.1 → XP_047284737.1  ovochymase-1 isoform X7

    12. XM_024448969.2 → XP_024304737.1  ovochymase-1 isoform X7

      Conserved Domains (2) summary
      cd00041
      Location:454 → 565
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00190
      Location:58 → 294
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      29274652..29369816 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371939.1 → XP_054227914.1  ovochymase-1 isoform X1

    2. XM_054371940.1 → XP_054227915.1  ovochymase-1 isoform X2

    3. XM_054371941.1 → XP_054227916.1  ovochymase-1 isoform X3

    4. XM_054371943.1 → XP_054227918.1  ovochymase-1 isoform X4

    5. XM_054371942.1 → XP_054227917.1  ovochymase-1 isoform X4

    6. XM_054371944.1 → XP_054227919.1  ovochymase-1 isoform X5

    7. XM_054371945.1 → XP_054227920.1  ovochymase-1 isoform X7

    RNA

    1. XR_008488576.1 RNA Sequence

    2. XR_008488573.1 RNA Sequence

    3. XR_008488575.1 RNA Sequence

    4. XR_008488574.1 RNA Sequence

    5. XR_008488577.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_183378.2: Suppressed sequence

      Description
      NM_183378.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7RTY7.3 GenPept UniProtKB/Swiss-Prot:Q7RTY7

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