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Aliases for PEX16 Gene

Aliases for PEX16 Gene

  • Peroxisomal Biogenesis Factor 16 2 3 4
  • PBD8A 3 6
  • PBD8B 3 6
  • Peroxisomal Membrane Protein PEX16 3
  • Peroxisome Biogenesis Factor 16 3
  • Peroxin 16 3
  • Peroxin-16 4

External Ids for PEX16 Gene

Summaries for PEX16 Gene

Entrez Gene Summary for PEX16 Gene

  • The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for PEX16 Gene

PEX16 (Peroxisomal Biogenesis Factor 16) is a Protein Coding gene. Diseases associated with PEX16 include peroxisome biogenesis disorder 8b and peroxisome biogenesis disorder 8a,. Among its related pathways are Peroxisome. GO annotations related to this gene include protein C-terminus binding.

UniProtKB/Swiss-Prot for PEX16 Gene

  • Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function as receptor for PEX3.

Gene Wiki entry for PEX16 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX16 Gene

Genomics for PEX16 Gene

Genomic Location for PEX16 Gene

Start:
45,909,669 bp from pter
End:
45,918,812 bp from pter
Size:
9,144 bases
Orientation:
Minus strand

Genomic View for PEX16 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PEX16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX16 Gene

Regulatory Elements for PEX16 Gene

Proteins for PEX16 Gene

  • Protein details for PEX16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5Y5-PEX16_HUMAN
    Recommended name:
    Peroxisomal membrane protein PEX16
    Protein Accession:
    Q9Y5Y5
    Secondary Accessions:
    • Q9BWB9

    Protein attributes for PEX16 Gene

    Size:
    336 amino acids
    Molecular mass:
    38629 Da
    Quaternary structure:
    • Interacts with PEX19.

    Alternative splice isoforms for PEX16 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEX16 Gene

Proteomics data for PEX16 Gene at MOPED

Post-translational modifications for PEX16 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PEX16 Gene

Domains for PEX16 Gene

Protein Domains for PEX16 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

PEX16_HUMAN
Family:
  • Belongs to the peroxin-16 family.:
    • Q9Y5Y5
genes like me logo Genes that share domains with PEX16: view

No data available for Gene Families for PEX16 Gene

Function for PEX16 Gene

Molecular function for PEX16 Gene

UniProtKB/Swiss-Prot Function: Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function as receptor for PEX3.

Gene Ontology (GO) - Molecular Function for PEX16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12096124
GO:0008022 protein C-terminus binding IPI 15713480
genes like me logo Genes that share ontologies with PEX16: view

Phenotypes for PEX16 Gene

MGI mutant phenotypes for PEX16:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with PEX16: view

miRNA for PEX16 Gene

miRTarBase miRNAs that target PEX16

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for PEX16 Gene

Localization for PEX16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX16 Gene

Peroxisome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PEX16 Gene COMPARTMENTS Subcellular localization image for PEX16 gene
Compartment Confidence
endoplasmic reticulum 5
peroxisome 5
cytosol 2
mitochondrion 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PEX16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IDA 15813749
GO:0005778 peroxisomal membrane IDA 21525035
GO:0005779 integral component of peroxisomal membrane IMP 9922452
GO:0005783 endoplasmic reticulum IDA 19479899
GO:0005789 endoplasmic reticulum membrane IDA 16717127
genes like me logo Genes that share ontologies with PEX16: view

Pathways for PEX16 Gene

SuperPathways for PEX16 Gene

Superpath Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX16: view

Pathways by source for PEX16 Gene

1 KEGG pathway for PEX16 Gene

Gene Ontology (GO) - Biological Process for PEX16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006625 protein targeting to peroxisome IMP 9837814
GO:0007031 peroxisome organization IMP 15813749
GO:0016557 peroxisome membrane biogenesis IMP 12223482
GO:0016558 protein import into peroxisome matrix IMP 9922452
GO:0022615 protein to membrane docking IDA 19114594
genes like me logo Genes that share ontologies with PEX16: view

Transcripts for PEX16 Gene

Unigene Clusters for PEX16 Gene

Peroxisomal biogenesis factor 16:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PEX16 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c
SP1: -
SP2: - -
SP3: -
SP4: -

Relevant External Links for PEX16 Gene

GeneLoc Exon Structure for
PEX16
ECgene alternative splicing isoforms for
PEX16

Expression for PEX16 Gene

mRNA expression in normal human tissues for PEX16 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PEX16 Gene

SOURCE GeneReport for Unigene cluster for PEX16 Gene Hs.100915

genes like me logo Genes that share expressions with PEX16: view

Orthologs for PEX16 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PEX16 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX16 36
  • 99.5 (n)
  • 99.7 (a)
PEX16 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PEX16 36
  • 91.17 (n)
  • 93.05 (a)
PEX16 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PEX16 36
  • 91.07 (n)
  • 92.86 (a)
PEX16 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pex16 36
  • 86.9 (n)
  • 91.07 (a)
Pex16 16
Pex16 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PEX16 37
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PEX16 37
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pex16 36
  • 83.82 (n)
  • 87.23 (a)
chicken
(Gallus gallus)
Aves PEX16 36
  • 71.69 (n)
  • 74.06 (a)
PEX16 37
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PEX16 37
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex16 36
  • 61.86 (n)
  • 57.96 (a)
Str.8967 36
zebrafish
(Danio rerio)
Actinopterygii Dr.16594 36
pex16 36
  • 67.76 (n)
  • 68.66 (a)
pex16 37
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002283 36
  • 50.37 (n)
  • 41.64 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pex16 36
  • 50.2 (n)
  • 39.57 (a)
Pex16 37
  • 33 (a)
OneToOne
CG3947 38
  • 36 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01850 36
  • 41.61 (n)
  • 28.1 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4212 37
  • 30 (a)
OneToOne
Species with no ortholog for PEX16:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PEX16 Gene

ENSEMBL:
Gene Tree for PEX16 (if available)
TreeFam:
Gene Tree for PEX16 (if available)

Paralogs for PEX16 Gene

No data available for Paralogs for PEX16 Gene

Variants for PEX16 Gene

Sequence variations from dbSNP and Humsavar for PEX16 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs867813 -- 45,918,383(-) GATGG(C/G)GATAC upstream-variant-2KB
rs939108 -- 45,915,266(-) CTTGT(C/G)ATGGC intron-variant
rs1132349 -- 45,913,833(-) TTCTA(A/C/G/T)GACCG stop-gained, synonymous-codon, reference
rs1140797 -- 45,917,722(-) GTGCG(A/G)GGCTT synonymous-codon, reference
rs1533613 -- 45,910,695(-) GTCCA(C/T)TGGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PEX16 Gene

Variant ID Type Subtype PubMed ID
nsv897314 CNV Loss 21882294
nsv516442 CNV Loss 19592680

Relevant External Links for PEX16 Gene

HapMap Linkage Disequilibrium report
PEX16
Human Gene Mutation Database (HGMD)
PEX16
Locus Specific Mutation Databases (LSDB)
PEX16

Disorders for PEX16 Gene

(2) OMIM Diseases for PEX16 Gene (603360)

UniProtKB/Swiss-Prot

PEX16_HUMAN
  • Peroxisome biogenesis disorder complementation group 9 (PBD-CG9) [MIM:614876]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 8A (PBD8A) [MIM:614876]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269 PubMed:9837814}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 8B (PBD8B) [MIM:614877]: A relatively mild peroxisome biogenesis disorder. Affected individuals manifest lower limb spasticity and ataxia resulting in wheelchair dependence. Other features include optic atrophy, cataracts, dysarthria, dysphagia, constipation, and a peripheral demyelinating motor and sensory neuropathy. Cognition is relatively preserved. Biochemical abnormalities are mild and include increased very-long-chain fatty acids (VLCFA), increased bile acid intermediates, and increased branched chain fatty acids. Phytanic acid alpha-oxidation, pristanic acid beta-oxidation, and red cell plasmalogen are normal. {ECO:0000269 PubMed:20647552}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for PEX16 Gene

(1) Novoseek inferred disease relationships for PEX16 Gene

Disease -log(P) Hits PubMed IDs
zellweger syndrome 88.6 3

Relevant External Links for PEX16

GeneTests
PEX16
GeneReviews
PEX16
genes like me logo Genes that share disorders with PEX16: view

Publications for PEX16 Gene

  1. Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. (PMID: 9837814) Honsho M. … Fujiki Y. (Am. J. Hum. Genet. 1998) 3 4 23
  2. Peroxisome synthesis in the absence of preexisting peroxisomes. (PMID: 9922452) South S.T. … Gould S.J. (J. Cell Biol. 1999) 2 3 4
  3. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. (PMID: 10704444) Sacksteder K.A. … Gould S.J. (J. Cell Biol. 2000) 3 4
  4. Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences. (PMID: 11390669) Fransen M. … Van Veldhoven P.P. (Mol. Cell. Biol. 2001) 3 4
  5. A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome. (PMID: 11890679) Shimozawa N. … Kondo N. (Biochem. Biophys. Res. Commun. 2002) 3 23

Products for PEX16 Gene

Sources for PEX16 Gene

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