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

Gene ID: 5190, updated on 18-Aug-2020

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
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

Genomic context

See PEX6 in Genome Data Viewer
Location:
6p21.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (42963865..42980224, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (42931611..42946981, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene CNPY3-GNMT readthrough Neighboring gene canopy FGF signaling regulator 3 Neighboring gene RPL24 pseudogene 4 Neighboring gene glycine N-methyltransferase Neighboring gene male-enhanced antigen 1 Neighboring gene protein phosphatase 2 regulatory subunit B'delta Neighboring gene kelch domain containing 3

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase activity IMP
Inferred from Mutant Phenotype
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
peroxisome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein import into peroxisome matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein import into peroxisome matrix, translocation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein targeting to peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein targeting to peroxisome IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor cell cilium IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
peroxisome biogenesis factor 6
Names
peroxin-6
peroxisomal AAA-type ATPase 1
peroxisomal-type ATPase 1
peroxisome assembly factor 2

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_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
    UniProtKB/TrEMBL
    A0A024RD09
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    42963865..42980224 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514661.2XP_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

RNA

  1. XR_001743466.2 RNA Sequence

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