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    TYSND1 trypsin like peroxisomal matrix peptidase 1 [ Homo sapiens (human) ]

    Gene ID: 219743, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TYSND1provided by HGNC
    Official Full Name
    trypsin like peroxisomal matrix peptidase 1provided by HGNC
    Primary source
    HGNC:HGNC:28531
    See related
    Ensembl:ENSG00000156521 MIM:611017; AllianceGenome:HGNC:28531
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NET41
    Summary
    This gene encodes a protease that removes the N-terminal peroxisomal targeting signal (PTS2) from proteins produced in the cytosol, thereby facilitating their import into the peroxisome. The encoded protein is also capable of removing the C-terminal peroxisomal targeting signal (PTS1) from proteins in the peroxisomal matrix. The full-length protein undergoes self-cleavage to produce shorter, potentially inactive, peptides. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]
    Expression
    Broad expression in testis (RPKM 9.5), skin (RPKM 5.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TYSND1 in Genome Data Viewer
    Location:
    10q22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (70137981..70146700, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (71006917..71015621, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (71897737..71906456, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2636 Neighboring gene macroH2A.2 histone Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71830815-71831314 Neighboring gene HNF4 motif-containing MPRA enhancer 70 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3495 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:71892372-71892872 Neighboring gene AIF family member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71898399-71898899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2441 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:71916030-71916530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3497 Neighboring gene secretion associated Ras related GTPase 1A Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:71929236-71929894 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:71929895-71930551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3498 Neighboring gene calmodulin 2 pseudogene 2 Neighboring gene ribosomal protein S25 pseudogene 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Sequence-based discovery of the human and rodent peroxisomal proteome. Kurochkin IV, et al. Appl Bioinformatics, 2005. PMID 16128611
    2. Novel peroxisomal protease Tysnd1 processes PTS1- and PTS2-containing enzymes involved in beta-oxidation of fatty acids. Kurochkin IV, et al. EMBO J, 2007 Feb 7. PMID 17255948, Free PMC Article
    3. Identification of Peroxisomal Protein Complexes with PTS Receptors, Pex5 and Pex7, in Mammalian Cells. Okumoto K, et al. Subcell Biochem, 2018. PMID 30378028
    4. Two proteases, trypsin domain-containing 1 (Tysnd1) and peroxisomal lon protease (PsLon), cooperatively regulate fatty acid β-oxidation in peroxisomal matrix. Okumoto K, et al. J Biol Chem, 2011 Dec 30. PMID 22002062, Free PMC Article
    5. Expressed sequence tag analysis of adult human iris for the NEIBank Project: steroid-response factors and similarities with retinal pigment epithelium. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107412

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. characterization of protease function and self-cleavage of mouse Tysnd1
      Title: Novel peroxisomal protease Tysnd1 processes PTS1- and PTS2-containing enzymes involved in beta-oxidation of fatty acids.
    2. The proteolytic activity of oligomeric Tysnd1 is in turn controlled by self-cleavage of Tysnd1 and degradation of Tysnd1 cleavage products by PsLon.
      Title: Two proteases, trypsin domain-containing 1 (Tysnd1) and peroxisomal lon protease (PsLon), cooperatively regulate fatty acid β-oxidation in peroxisomal matrix.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction

    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Pol gag-pol HIV-1 Pol is identified to have a physical interaction with trypsin domain containing 1 (TYSND1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    integrase gag-pol HIV-1 IN is identified to have a physical interaction with trypsin domain containing 1 (TYSND1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: AIFM2

    Homology

    Clone Names

    • FLJ40378, MGC34695, MGC131934

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables serine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein processing TAS
    Traceable Author Statement
    more info
    		  
    involved_in proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of fatty acid beta-oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of fatty acid beta-oxidation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in peroxisomal matrix TAS
    Traceable Author Statement
    more info
    		  
    is_active_in peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    peroxisomal leader peptide-processing protease
    Names
    peroxisomal cysteine endopeptidase
    peroxisomal matrix protein-processing protease
    peroxisome leader peptide-processing protease
    trypsin domain containing 1
    trypsin domain-containing protein 1
    NP_001035363.1
    NP_775826.2

    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_001040273.3 → NP_001035363.1  peroxisomal leader peptide-processing protease isoform b

      See identical proteins and their annotated locations for NP_001035363.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate exons in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AL731540, BC030242, BC042629, BC047424, BC111501
      Consensus CDS
      CCDS31214.1
      UniProtKB/Swiss-Prot
      Q2T9J0
      Related
      ENSP00000335673.5, ENST00000335494.5
      Conserved Domains (1) summary
      cl21584
      Location:185 → 278
      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. NM_173555.4 → NP_775826.2  peroxisomal leader peptide-processing protease isoform a

      See identical proteins and their annotated locations for NP_775826.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL731540, BC030242, BC042629, BC047424, BC111501
      Consensus CDS
      CCDS31213.1
      UniProtKB/Swiss-Prot
      Q2T9J0, Q5SQT4, Q5SQU1, Q8N6H2, Q96AR5
      Related
      ENSP00000287078.6, ENST00000287078.7
      Conserved Domains (3) summary
      pfam00089
      Location:346 → 526
      Trypsin; Trypsin
      pfam13365
      Location:357 → 496
      Trypsin_2; Trypsin-like peptidase domain
      cl21584
      Location:185 → 278
      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 ...

    RNA

    1. NR_073580.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' exon and lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AL731540, BC047424

    2. NR_073581.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      AK074968, AL731540, HY013216
      Related
      ENST00000479086.1

    3. NR_073582.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AL731540, BC030242, BC047424, DA434127

    4. NR_073591.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' exon and uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AL731540, BC030242, BI829894

    5. NR_073592.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' exon and lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      AL731540, BC030242, HY013216

    6. NR_073593.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' exon and uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AL731540, BC030242, BC047424, CD671353

    7. NR_073594.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' exon and uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      AL731540, BC030242, BC047424, DA334145

    8. NR_073595.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) has an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AL731540, BC030242, CV805418
      Related
      ENST00000494143.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      70137981..70146700 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      71006917..71015621 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2T9J0.3 GenPept UniProtKB/Swiss-Prot:Q2T9J0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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