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PEX6 peroxisomal biogenesis factor 6 [ Homo sapiens (human) ]

Gene ID: 5190, updated on 4-Jan-2025

Summary

Official Symbol
PEX6provided by HGNC
Official Full Name
peroxisomal biogenesis factor 6provided by HGNC
Primary source
HGNC:HGNC:8859
See related
Ensembl:ENSG00000124587 MIM:601498; AllianceGenome:HGNC:8859
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
PAF2; HMLR2; PAF-2; PBD4A; PDB4B; PXAAA1
Summary
This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Expression
Ubiquitous expression in prostate (RPKM 9.4), ovary (RPKM 8.7) and 25 other tissues See more
Orthologs
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Genomic context

See PEX6 in Genome Data Viewer
Location:
6p21.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (42963865..42979181, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (42793003..42808304, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (42931603..42946919, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene CNPY3-GNMT readthrough Neighboring gene long intergenic non-protein coding RNA 2976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42928211-42928712 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24581 Neighboring gene RPL24 pseudogene 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:42935679-42935875 Neighboring gene glycine N-methyltransferase Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:42938260-42939130 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:42939131-42939999 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42946179-42947120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24582 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:42947525-42947721 Neighboring gene uncharacterized LOC124900215 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:42948960-42949178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24583 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17211 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17212 Neighboring gene Sharpr-MPRA regulatory region 14905 Neighboring gene protein phosphatase 2 regulatory subunit B'delta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42979352-42979852 Neighboring gene male-enhanced antigen 1

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytoplasm PubMed 
is_active_in cytosol  
located_in cytosol PubMed 
located_in cytosol  
is_active_in peroxisomal membrane  
is_active_in peroxisomal membrane PubMed 
located_in peroxisome PubMed 
located_in photoreceptor cell cilium PubMed 
located_in photoreceptor outer segment  

General protein information

Preferred Names
peroxisome biogenesis factor 6
Names
peroxin-6
peroxisomal AAA-type ATPase 1
peroxisomal ATPase PEX6
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.

Genomic

  1. NG_008370.1 RefSeqGene

    Range
    5063..20379
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000287.4NP_000278.3  peroxisome biogenesis factor 6 isoform 1

    See identical proteins and their annotated locations for NP_000278.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL158815, BC033487, BQ773648, DA462214
    Consensus CDS
    CCDS4877.1
    UniProtKB/Swiss-Prot
    Q13608, Q5T8W1, Q8WYQ0, Q8WYQ1, Q8WYQ2, Q99476
    Related
    ENSP00000303511.8, ENST00000304611.13
    Conserved Domains (3) summary
    COG0464
    Location:463967
    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:743871
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam09336
    Location:918977
    Vps4_C; Vps4 C terminal oligomerization domain
  2. NM_001316313.2NP_001303242.1  peroxisome biogenesis factor 6 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction in the 5' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AB051077, AL158815, BC033487, BQ773648
    UniProtKB/Swiss-Prot
    Q13608
    Conserved Domains (3) summary
    COG0464
    Location:375879
    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:655783
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam09336
    Location:830889
    Vps4_C; Vps4 C terminal oligomerization domain

RNA

  1. NR_133009.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction and lacks two exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB051078, AL158815, BQ773648
    Related
    ENST00000244546.4

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    42963865..42979181 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418872.1XP_047274828.1  peroxisome biogenesis factor 6 isoform X2

  2. XM_011514661.3XP_011512963.1  peroxisome biogenesis factor 6 isoform X1

    Conserved Domains (3) summary
    COG0464
    Location:435939
    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:715843
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam09336
    Location:890949
    Vps4_C; Vps4 C terminal oligomerization domain
  3. XM_047418873.1XP_047274829.1  peroxisome biogenesis factor 6 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    42793003..42808304 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355604.1XP_054211579.1  peroxisome biogenesis factor 6 isoform X2

  2. XM_054355603.1XP_054211578.1  peroxisome biogenesis factor 6 isoform X1

  3. XM_054355605.1XP_054211580.1  peroxisome biogenesis factor 6 isoform X3

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