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

    Gene ID: 5192, updated on 17-Jun-2019

    Summary

    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
    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

    Genomic context

    See PEX10 in Genome Data Viewer
    Location:
    1p36.32
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (2404802..2412574, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (2336241..2344010, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MORN repeat containing 1 Neighboring gene small nuclear ribonucleoprotein polypeptide N pseudogene Neighboring gene Sharpr-MPRA regulatory region 13804 Neighboring gene retention in endoplasmic reticulum sorting receptor 1 Neighboring gene phospholipase C eta 2 Neighboring gene pantothenate kinase 4 Neighboring gene hes family bHLH transcription factor 5

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

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

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    • Peroxisome, organism-specific biosystem (from KEGG)
      Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
    • Peroxisome, conserved biosystem (from KEGG)
      Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC1998

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    peroxisome organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein import into peroxisome matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein import into peroxisome matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein targeting to peroxisome TAS
    Traceable Author Statement
    more info
     
    protein ubiquitination TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    peroxisomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    peroxisomal membrane TAS
    Traceable Author Statement
    more info
     
    peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    peroxisome biogenesis factor 10
    Names
    RING finger protein 69
    peroxin 10
    peroxisome assembly protein 10

    NCBI Reference Sequences (RefSeq)

    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
      5001..12770
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002617.3NP_002608.1  peroxisome biogenesis factor 10 isoform 2

      See identical proteins and their annotated locations for NP_002608.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      AB013818, BC000543, BC018198
      Consensus CDS
      CCDS44045.1
      UniProtKB/Swiss-Prot
      O60683
      UniProtKB/TrEMBL
      A0A024R068
      Related
      ENSP00000407922.2, ENST00000447513.6
      Conserved Domains (2) summary
      cd00162
      Location:273314
      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:18243
      Pex2_Pex12; Pex2 / Pex12 amino terminal region
    2. NM_153818.1NP_722540.1  peroxisome biogenesis factor 10 isoform 1

      See identical proteins and their annotated locations for NP_722540.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1) of this protein.
      Source sequence(s)
      BC000543, BC018198, DA439481
      Consensus CDS
      CCDS41.1
      UniProtKB/Swiss-Prot
      O60683
      UniProtKB/TrEMBL
      A0A024R0A4
      Related
      ENSP00000288774.3, ENST00000288774.7
      Conserved Domains (2) summary
      cd00162
      Location:293334
      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:18263
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      2404802..2412574 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541576.2XP_011539878.1  peroxisome biogenesis factor 10 isoform X1

      Related
      ENSP00000423051.1, ENST00000510434.1
      Conserved Domains (1) summary
      pfam04757
      Location:18199
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    RNA

    1. XR_946666.2 RNA Sequence

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