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

Gene ID: 222659, updated on 14-Nov-2024

Summary

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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
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Genomic context

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See PXT1 in Genome Data Viewer
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_000006.12Genomic Context describing neighboring genes Neighboring gene BCL2 interacting protein 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24425 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36343773-36344272 Neighboring gene ETS variant transcription factor 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36354517-36355340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17113 Neighboring gene ETV7 and PTX1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24427 Neighboring gene PXT1 intron CAGE-defined low expression enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24429 Neighboring gene RNA, 7SL, cytoplasmic 502, pseudogene Neighboring gene potassium channel tetramerization domain containing 20 Neighboring gene uncharacterized LOC124901558 Neighboring gene serine/threonine kinase 38

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 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

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

Homology

Clone Names

  • MGC129569

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
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)

  1. 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

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    36390551..36442854 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    36210831..36263636 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354662.1 → XP_054210637.1  peroxisomal testis-specific protein 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NFP0.2 GenPept UniProtKB/Swiss-Prot:Q8NFP0

Gene LinkOut

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

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