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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
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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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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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