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    PEX10 peroxisomal biogenesis factor 10 [ Homo sapiens (human) ]

    Gene ID: 5192, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PEX10provided by HGNC
    Official Full Name
    peroxisomal biogenesis factor 10provided by HGNC
    Primary source
    HGNC:HGNC:8851
    See related
    Ensembl:ENSG00000157911 MIM:602859; AllianceGenome:HGNC:8851
    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
    NALD; PBD6A; PBD6B; RNF69
    Summary
    This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in prostate (RPKM 12.5), fat (RPKM 12.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PEX10 in Genome Data Viewer
    Location:
    1p36.32
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (2403974..2413827, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (1843564..1853417, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (2335413..2345266, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903824 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2246747-2247500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2253541-2254148 Neighboring gene MORN repeat containing 1 Neighboring gene small nuclear ribonucleoprotein polypeptide N pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr1:2306674-2306868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 55 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 56 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 113 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 114 Neighboring gene Sharpr-MPRA regulatory region 13804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2340121-2340621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2342650-2343230 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:2343231-2343811 to GRCh37_chr1:2344393-2344972 Neighboring gene retention in endoplasmic reticulum sorting receptor 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:2361610-2361787 Neighboring gene phospholipase C eta 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2377030-2377864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2378700-2379534 Neighboring gene Sharpr-MPRA regulatory region 13638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2383066-2383714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2383715-2384362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2423421-2423982 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:2430511-2431710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2454755-2455542 Neighboring gene pantothenate kinase 4 (inactive)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene. Shimozawa N, et al. Adv Exp Med Biol, 2003. PMID 14713216
    2. Mutations in PEX10 are a cause of autosomal recessive ataxia. Régal L, et al. Ann Neurol, 2010 Aug. PMID 20695019
    3. Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. Renaud M, et al. J Neurol, 2016 Aug. PMID 27230853
    4. [Abnormal expression of PEX10 gene may be related to epilepsy associated with 1p36 copy number variations]. Zhang Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2015 Feb. PMID 25636090
    5. Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B. Okumoto K, et al. Hum Mol Genet, 1998 Sep. PMID 9700193

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort.
      Title: Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort.
    2. Collectively, the rs2477686 in PEX10 , rs6080550 in SIRPA-SIRPG, and rs10842262 in SOX5 gene may indeed be the genetic risk factors for nonobstructive azoospermia (NOA), which requires further investigation using larger independent sets of samples in different ethnic populations.
      Title: PEX10, SIRPA-SIRPG, and SOX5 gene polymorphisms are strongly associated with nonobstructive azoospermia susceptibility.
    3. This study demonstrated that two mutations in PEX10 were found in the three peroxisomal biogenesis disorders patients: c.827G>T (novel) causing the missense change p.Cys276Phe and c.932G>A causing the missense change p.Arg311Gln.
      Title: Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.
    4. abnormal expression of PEX10 gene resulting from copy number variations of 1p36 region may be associated with the epilepsy phenotype
      Title: [Abnormal expression of PEX10 gene may be related to epilepsy associated with 1p36 copy number variations].
    5. child and an adult of normal intelligence with progressive ataxia, axonal motor neuropathy, decreased vibration sense and cerebellar atrophy; 2 mutations in PEX10 found in child, c.992G>A and c.764_765insA, and in the adult, c.2T>C and c.790C>T
      Title: Mutations in PEX10 are a cause of autosomal recessive ataxia.
    6. the relative fraction of disease-causing alleles that occur in the coding and splice junction sequences of PEX10 gene.
      Title: Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
    7. Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene.
      Title: Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene.
    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

    Associated conditions

    Description Tests
    Peroxisome biogenesis disorder 6A (Zellweger)
    MedGen: C3553947 OMIM: 614870 GeneReviews: Not available
    		Compare labs
    Peroxisome biogenesis disorder 6B
    MedGen: C3553948 OMIM: 614871 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC1998

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to reactive oxygen species IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peroxisome organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in protein import into peroxisome matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein import into peroxisome matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein import into peroxisome matrix IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein import into peroxisome matrix, receptor recycling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein import into peroxisome matrix, substrate release ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein quality control for misfolded or incompletely synthesized proteins ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in peroxisomal membrane HDA PubMed 
    is_active_in peroxisomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in peroxisomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in peroxisomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in peroxisomal membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    peroxisome biogenesis factor 10
    Names
    RING finger protein 69
    peroxin 10
    peroxisome assembly protein 10
    NP_001361354.1
    NP_001361355.1
    NP_001361356.1
    NP_002608.1
    NP_722540.1
    XP_011539878.1
    XP_047278495.1
    XP_054192986.1
    XP_054192987.1

    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.

    Genomic

    1. NG_008342.1 RefSeqGene

      Range
      5008..13598
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001374425.1 → NP_001361354.1  peroxisome biogenesis factor 10 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL513477
      UniProtKB/TrEMBL
      Q6FGN0
      Conserved Domains (2) summary
      cd16527
      Location:292 → 330
      RING-HC_PEX10; RING finger, HC subclass, found in peroxin-10 (PEX10) and similar proteins
      pfam04757
      Location:18 → 262
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    2. NM_001374426.1 → NP_001361355.1  peroxisome biogenesis factor 10 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL513477
      Conserved Domains (2) summary
      cd16527
      Location:148 → 186
      RING-HC_PEX10; RING finger, HC subclass, found in peroxin-10 (PEX10) and similar proteins
      pfam04757
      Location:2 → 118
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    3. NM_001374427.1 → NP_001361356.1  peroxisome biogenesis factor 10 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL513477
      Conserved Domains (2) summary
      cd16527
      Location:129 → 167
      RING-HC_PEX10; RING finger, HC subclass, found in peroxin-10 (PEX10) and similar proteins
      pfam04757
      Location:2 → 99
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    4. NM_002617.4 → NP_002608.1  peroxisome biogenesis factor 10 isoform 2

      See identical proteins and their annotated locations for NP_002608.1

      Status: REVIEWED

      Source sequence(s)
      AL513477
      Consensus CDS
      CCDS44045.1
      UniProtKB/Swiss-Prot
      B3KWD8, O60683, Q5T095, Q9BW90
      UniProtKB/TrEMBL
      Q6FGN0
      Related
      ENSP00000407922.2, ENST00000447513.7
      Conserved Domains (2) summary
      cd00162
      Location:273 → 314
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      pfam04757
      Location:18 → 243
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    5. NM_153818.2 → NP_722540.1  peroxisome biogenesis factor 10 isoform 1

      See identical proteins and their annotated locations for NP_722540.1

      Status: REVIEWED

      Source sequence(s)
      AL513477
      Consensus CDS
      CCDS41.1
      UniProtKB/TrEMBL
      Q6FGN0
      Related
      ENSP00000288774.3, ENST00000288774.8
      Conserved Domains (2) summary
      cd00162
      Location:293 → 334
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      pfam04757
      Location:18 → 263
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    RNA

    1. NR_164636.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL513477

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      2403974..2413827 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422539.1 → XP_047278495.1  peroxisome biogenesis factor 10 isoform X1

      UniProtKB/TrEMBL
      D6RA89
      Related
      ENSP00000423051.1, ENST00000510434.1

    2. XM_011541576.3 → XP_011539878.1  peroxisome biogenesis factor 10 isoform X2

      Conserved Domains (1) summary
      pfam04757
      Location:18 → 199
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      1843564..1853417 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337011.1 → XP_054192986.1  peroxisome biogenesis factor 10 isoform X1

      UniProtKB/TrEMBL
      D6RA89

    2. XM_054337012.1 → XP_054192987.1  peroxisome biogenesis factor 10 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60683.1 GenPept UniProtKB/Swiss-Prot:O60683

    Gene LinkOut

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

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