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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]
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. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 12096124 |
GO:0008022 | protein C-terminus binding | IPI | 15713480 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005777 | peroxisome | IEA,IDA | 9837814 |
GO:0005778 | peroxisomal membrane | IEA,IBA | 21873635 |
GO:0005779 | integral component of peroxisomal membrane | IMP | 9922452 |
GO:0005783 | endoplasmic reticulum | IDA | 19479899 |
GO:0005789 | endoplasmic reticulum membrane | IDA | 16717127 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peroxisome |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006625 | protein targeting to peroxisome | IMP | 9837814 |
GO:0007031 | peroxisome organization | IEA,IMP | 15813749 |
GO:0016557 | peroxisome membrane biogenesis | IMP | 9837814 |
GO:0016558 | protein import into peroxisome matrix | IMP | 9922452 |
GO:0022615 | protein to membrane docking | IDA | 19114594 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PEX16 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PEX16 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PEX16 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pex16 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pex16 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PEX16 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PEX16 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PEX16 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PEX16 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pex16 30 |
|
||
Str.8967 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | pex16 30 31 |
|
OneToOne | |
Dr.16594 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002283 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Pex16 30 31 |
|
OneToOne | |
CG3947 32 |
|
|
|||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU01850 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4212 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
30351 | Pathogenic: Peroxisome biogenesis disorder 8B | 45,910,280(-) | TC/T | FRAMESHIFT_VARIANT,INTRON_VARIANT | |
6467 | Pathogenic: Peroxisome biogenesis disorder 8A | 45,910,896(-) | A/G | SPLICE_DONOR_VARIANT | |
719045 | Benign/Likely Benign: Peroxisome biogenesis disorder 8A; Peroxisome biogenesis disorders, Zellweger syndrome spectrum | 45,916,309(-) | G/A | INTRON_VARIANT | |
736603 | Likely Benign: not provided | 45,910,941(-) | G/A | SYNONYMOUS_VARIANT | |
738979 | Likely Benign: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | 45,917,451(-) | G/A | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
peroxisome biogenesis disorder 8b |
|
|
peroxisome biogenesis disorder 8a |
|
|
zellweger syndrome |
|
|
peroxisome biogenesis disorder 1b |
|
|
neonatal adrenoleukodystrophy |
|
|