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

Summary

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

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S1348E (e-PCR)
- UniSTS:72711

SHGC-30458 (e-PCR)
- UniSTS:9239

D10S1466 (e-PCR)
- UniSTS:23406

SGC31274 (e-PCR)
- UniSTS:54641

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 more info	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

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_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 ...
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

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
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
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
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
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
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
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
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