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

    Gene ID: 222659, updated on 10-Dec-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, Dec 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

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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
    • 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. The putative peroxisomal gene Pxt1 is exclusively expressed in the testis. Grzmil P, et al. Cytogenet Genome Res, 2007. PMID 18160785
    2. Ccdc33, a predominantly testis-expressed gene, encodes a putative peroxisomal protein. Kaczmarek K, et al. Cytogenet Genome Res, 2009. PMID 20068295
    3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    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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