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

Gene ID: 219743, updated on 30-Mar-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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Location:
10q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (70137981..70146700, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (71006917..71015621, complement)
105.20220307 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 apoptosis inducing factor mitochondria associated 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

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. 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 (29) 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)

Genotypes

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 protease 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_2023_10

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

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