Pex6 peroxisomal biogenesis factor 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pex6provided by MGI
Official Full Name: peroxisomal biogenesis factor 6provided by MGI
Primary source: MGI:MGI:2385054
See related: Ensembl:ENSMUSG00000002763 AllianceGenome:MGI:2385054
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PAF-2; D130055I09Rik
Summary: Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and ubiquitin-modified protein reader activity. Predicted to be involved in establishment of protein localization to peroxisome; protein stabilization; and protein unfolding. Located in photoreceptor cell cilium. Is expressed in brain; embryo; liver; and metanephros. Human ortholog(s) of this gene implicated in Heimler syndrome 2; Peroxisome biogenesis disorder 4B; and peroxisome biogenesis disorder 4A. Orthologous to human PEX6 (peroxisomal biogenesis factor 6). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 85.9), ovary adult (RPKM 56.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 C; 17 22.9 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (47022402..47036469)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (46711476..46725543)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI132582 (e-PCR)
- UniSTS:160664

AW742175 (e-PCR)
- UniSTS:209312

Pex6 (e-PCR), detects polymorphism
- UniSTS:526052

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein transporter activity	ISO Inferred from Sequence Orthology more info
enables protein transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin-modified protein reader activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin-modified protein reader activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in peroxisome organization	ISO Inferred from Sequence Orthology more info
involved_in protein import into peroxisome matrix	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein import into peroxisome matrix, receptor recycling	ISO Inferred from Sequence Orthology more info
involved_in protein import into peroxisome matrix, receptor recycling	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein import into peroxisome matrix, translocation	IEA Inferred from Electronic Annotation more info
involved_in protein import into peroxisome matrix, translocation	ISO Inferred from Sequence Orthology more info
involved_in protein stabilization	IEA Inferred from Electronic Annotation more info
involved_in protein stabilization	ISO Inferred from Sequence Orthology more info
involved_in protein targeting to peroxisome	IEA Inferred from Electronic Annotation more info
involved_in protein targeting to peroxisome	ISO Inferred from Sequence Orthology more info
involved_in protein unfolding	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein unfolding	ISO Inferred from Sequence Orthology more info
involved_in protein unfolding	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in peroxisomal membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in peroxisomal membrane	ISO Inferred from Sequence Orthology more info
located_in peroxisomal membrane	ISO Inferred from Sequence Orthology more info
is_active_in peroxisomal membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in peroxisome	ISO Inferred from Sequence Orthology more info
located_in photoreceptor cell cilium	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor cell cilium	ISO Inferred from Sequence Orthology more info
located_in photoreceptor outer segment	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: peroxisomal ATPase PEX6

Names: peroxin-6; peroxisomal-type ATPase 1; peroxisome assembly factor 2

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)

NM_145488.2 → NP_663463.1 peroxisomal ATPase PEX6

Status: VALIDATED

Source sequence(s)

CT030702

Consensus CDS

CCDS28837.1

UniProtKB/Swiss-Prot

Q6YNQ9, Q99LC9

UniProtKB/TrEMBL

Q5DTJ5

Related

ENSMUSP00000002840.9, ENSMUST00000002840.9

Conserved Domains (2) summary

COG0464
Location:464 → 968

SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

pfam00004
Location:744 → 872

AAA; ATPase family associated with various cellular activities (AAA)