Tysnd1 trypsin domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tysnd1provided by MGI
Official Full Name: trypsin domain containing 1provided by MGI
Primary source: MGI:MGI:1919017
See related: Ensembl:ENSMUSG00000020087 AllianceGenome:MGI:1919017
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1300019N10Rik
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 adrenal adult (RPKM 220.9), duodenum adult (RPKM 66.0) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 B4; 10 32.26 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (61531279..61538552)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (61695500..61702773)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our data established that peroxisomal processing protease Tysnd1 is necessary to mediate the physiological functions of PTS2-containing substrates.
Title: Tysnd1 deficiency in mice interferes with the peroxisomal localization of PTS2 enzymes, causing lipid metabolic abnormalities and male infertility.
characterization of function of human TYSND1, including putative regulation by self-cleavage
Title: Two proteases, trypsin domain-containing 1 (Tysnd1) and peroxisomal lon protease (PsLon), cooperatively regulate fatty acid β-oxidation in peroxisomal matrix.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BB224225 (e-PCR)
- UniSTS:208532

AW490206 (e-PCR)
- UniSTS:208534

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protease binding	IEA Inferred from Electronic Annotation more info
enables protease binding	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
enables serine-type endopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein processing	ISO Inferred from Sequence Orthology more info
involved_in protein processing	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteolysis	ISO Inferred from Sequence Orthology more info
involved_in proteolysis	ISS Inferred from Sequence or Structural Similarity more info
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	ISO Inferred from Sequence Orthology more info
involved_in regulation of fatty acid beta-oxidation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
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	ISO Inferred from Sequence Orthology more info
located_in peroxisome	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: peroxisomal leader peptide-processing protease

Names: trypsin domain-containing protein 1

NP_001259019.1

EC 3.4.21.-

NP_001259020.1

EC 3.4.21.-

NP_001259021.1

EC 3.4.21.-

NP_082188.1

EC 3.4.21.-

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)

NM_001272090.1 → NP_001259019.1 peroxisomal leader peptide-processing protease isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' 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)

AC153136, AI181257, AK005069

UniProtKB/Swiss-Prot

Q9DBA6

Conserved Domains (2) summary

pfam13365
Location:359 → 429

Trypsin_2; Trypsin-like peptidase domain

cl21584
Location:187 → 268

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 ...
NM_001272091.1 → NP_001259020.1 peroxisomal leader peptide-processing protease isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate exon in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (c) is shorter and has a distinct C-terminus, compared to isoform a.

Source sequence(s)

AC153136, AK005069

UniProtKB/Swiss-Prot

Q9DBA6

Conserved Domains (1) summary

cl21584
Location:187 → 268

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 ...
NM_001272092.1 → NP_001259021.1 peroxisomal leader peptide-processing protease isoform d

See identical proteins and their annotated locations for NP_001259021.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (d) is shorter than isoform a.

Source sequence(s)

AC153136, AK005069

UniProtKB/Swiss-Prot

Q9DBA6

Conserved Domains (2) summary

pfam13365
Location:359 → 460

Trypsin_2; Trypsin-like peptidase domain

cl21584
Location:187 → 268

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 ...
NM_027912.1 → NP_082188.1 peroxisomal leader peptide-processing protease isoform a

See identical proteins and their annotated locations for NP_082188.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AC153136, AK005069, AV148467

Consensus CDS

CCDS48575.1

UniProtKB/Swiss-Prot

Q0VE90, Q9DBA6

Related

ENSMUSP00000020284.5, ENSMUST00000020284.5

Conserved Domains (3) summary

pfam00089
Location:344 → 528

Trypsin; Trypsin

pfam13365
Location:359 → 498

Trypsin_2; Trypsin-like peptidase domain

cl21584
Location:187 → 268

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

NR_073587.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) 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)

AC153136, AK005069, BE847683