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    PEX26 peroxisomal biogenesis factor 26 [ Homo sapiens (human) ]

    Gene ID: 55670, updated on 8-Jul-2021

    Summary

    Official Symbol
    PEX26provided by HGNC
    Official Full Name
    peroxisomal biogenesis factor 26provided by HGNC
    Primary source
    HGNC:HGNC:22965
    See related
    Ensembl:ENSG00000215193 MIM:608666
    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
    PBD7A; PBD7B; PEX26M1T; Pex26pM1T
    Summary
    This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]
    Expression
    Ubiquitous expression in colon (RPKM 17.4), small intestine (RPKM 11.2) and 25 other tissues See more
    Orthologs
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    Genomic context

    See PEX26 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (18077990..18105396)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (18560756..18588162)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1634 Neighboring gene uncharacterized LOC105372853 Neighboring gene ADP ribosylation factor like GTPase 2 binding protein pseudogene 10 Neighboring gene tubulin alpha 8 Neighboring gene ubiquitin specific peptidase 18

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: TUBA8

    Homology

    Clone Names

    • FLJ20695

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ATPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in protein import into peroxisome matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in integral component of peroxisomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in peroxisomal membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    peroxisome assembly protein 26
    Names
    peroxin-26
    peroxisome biogenesis disorder, complementation group 8
    peroxisome biogenesis disorder, complementation group A
    peroxisome biogenesis factor 26

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008339.1 RefSeqGene

      Range
      5001..18112
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127649.3NP_001121121.1  peroxisome assembly protein 26 isoform a

      See identical proteins and their annotated locations for NP_001121121.1

      Status: REVIEWED

      Source sequence(s)
      AB089678, AC016027, BC047320, CA433324, CB989626
      Consensus CDS
      CCDS13750.1
      UniProtKB/Swiss-Prot
      Q7Z412
      UniProtKB/TrEMBL
      A0A024R100
      Related
      ENSP00000382648.4, ENST00000399744.8
      Conserved Domains (1) summary
      pfam07163
      Location:1302
      Pex26; Pex26 protein
    2. NM_001199319.2NP_001186248.1  peroxisome assembly protein 26 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC016027
      Consensus CDS
      CCDS56221.1
      UniProtKB/Swiss-Prot
      Q7Z412
      UniProtKB/TrEMBL
      A0A0S2Z5M7, Q7Z2D7
      Related
      ENSP00000412441.2, ENST00000428061.2
      Conserved Domains (1) summary
      pfam07163
      Location:1253
      Pex26; Pex26 protein
    3. NM_017929.6NP_060399.1  peroxisome assembly protein 26 isoform a

      See identical proteins and their annotated locations for NP_060399.1

      Status: REVIEWED

      Source sequence(s)
      AB089678, AC016027, AK000065, BC016280, CA433324
      Consensus CDS
      CCDS13750.1
      UniProtKB/Swiss-Prot
      Q7Z412
      UniProtKB/TrEMBL
      A0A024R100
      Related
      ENSP00000331106.5, ENST00000329627.11
      Conserved Domains (1) summary
      pfam07163
      Location:1302
      Pex26; Pex26 protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      18077990..18105396
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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