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

Gene ID: 55670, updated on 2-Aug-2020

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

Genomic context

See PEX26 in Genome Data Viewer
Location:
22q11.21
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (18077990..18105396)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (18560686..18573797)

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
ATPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
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 import into peroxisome matrix IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein import into peroxisome membrane IEA
Inferred from Electronic Annotation
more info
 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of peroxisomal membrane IEA
Inferred from Electronic Annotation
more info
 
peroxisomal membrane TAS
Traceable Author Statement
more info
 
peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    ENSP00000382648.3, ENST00000399744.7
    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
    ENSP00000482091.1, ENST00000610387.4
    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 Annotation Release 109.20200522

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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