PXT1 peroxisomal testis enriched protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PXT1provided by HGNC
Official Full Name: peroxisomal testis enriched protein 1provided by HGNC
Primary source: HGNC:HGNC:18312
See related: Ensembl:ENSG00000179165 AllianceGenome:HGNC:18312
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: STEPP
Summary: Predicted to be involved in positive regulation of apoptotic process and spermatogenesis. Predicted to be active in nucleus and peroxisome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis (RPKM 1.3), bone marrow (RPKM 0.1) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.31

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (36390551..36442854, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (36210831..36263636, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (36358328..36410631, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Data show that CCDC33-dsRED fusion protein co-localized with a known peroxisomal protein, namely PXT1, and showed punctuate intracellular distribution.
Title: Ccdc33, a predominantly testis-expressed gene, encodes a putative peroxisomal protein.
Pxt1 gene is so far the first gene coding for a putative peroxisomal protein which is expressed in later steps of spermatogenesis, namely in pachytene spermatocytes
Title: The putative peroxisomal gene Pxt1 is exclusively expressed in the testis.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AL031215 (e-PCR)
- UniSTS:73222

NoName (e-PCR)
- UniSTS:486546

NoName (e-PCR)
- UniSTS:483003

PXT1__5622 (e-PCR)
- UniSTS:463840

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in positive regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in peroxisome	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisome	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: peroxisomal testis-specific protein 1

Names: peroxisomal, testis specific 1; small testis-specific peroxisomal protein

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_152990.4 → NP_694535.2 peroxisomal testis-specific protein 1

See identical proteins and their annotated locations for NP_694535.2

Status: VALIDATED

Source sequence(s)

AL133263, BC031105

Consensus CDS

CCDS4820.2

UniProtKB/Swiss-Prot

J3KR74, Q8NFP0

Related

ENSP00000419944.1, ENST00000454782.3

Conserved Domains (1) summary

pfam15214
Location:85 → 134

PXT1; Peroxisomal testis-specific protein 1

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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

36390551..36442854 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011514400.3 → XP_011512702.1 peroxisomal testis-specific protein 1 isoform X1

Conserved Domains (1) summary

pfam15214
Location:90 → 139

PXT1; Peroxisomal testis-specific protein 1