PEX16
Peroxisomal membrane protein PEX16
Also known as: PEX16_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y5Y5
- Gene
- PEX16
- Ensembl
- ENSG00000121680
- Chromosome
- 11
- Canonical length
- 336 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
336 residues, UniProt reviewed canonical sequence.
>Q9Y5Y5|PEX16
1 MEKLRLLGLR YQEYVTRHPA ATAQLETAVR GFSYLLAGRF ADSHELSELV YSASNLLVLL
61 NDGILRKELR KKLPVSLSQQ KLLTWLSVLE CVEVFMEMGA AKVWGEVGRW LVIALVQLAK
121 AVLRMLLLLW FKAGLQTSPP IVPLDRETQA QPPDGDHSPG NHEQSYVGKR SNRVVRTLQN
181 TPSLHSRHWG APQQREGRQQ QHHEELSATP TPLGLQETIA EFLYIARPLL HLLSLGLWGQ
241 RSWKPWLLAG VVDVTSLSLL SDRKGLTRRE RRELRRRTIL LLYYLLRSPF YDRFSEARIL
301 FLLQLLADHV PGVGLVTRPL MDYLPTWQKI YFYSWGLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PEX16 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 2
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 45 nTPM
Expression across tissuesHPA
Tissue
- liver: 45 nTPM
- amygdala: 38 nTPM
- hippocampal formation: 37 nTPM
- pancreas: 35 nTPM
- basal ganglia: 35 nTPM
- cerebral cortex: 34 nTPM
Single-cell type
- enterocytes: 94 nCPM
- syncytiotrophoblasts: 76 nCPM
- hepatocytes: 71 nCPM
- breast lactating cells: 64 nCPM
- late spermatids: 54 nCPM
- esophageal suprabasal cells: 53 nCPM
Immune cell
- T-reg: 61 nTPM
- memory B-cell: 57 nTPM
- intermediate monocyte: 51 nTPM
- naive B-cell: 51 nTPM
- memory CD8 T-cell: 50 nTPM
- memory CD4 T-cell: 49 nTPM
Brain region
- medulla oblongata: 34 nTPM
- white matter: 32 nTPM
- midbrain: 29 nTPM
- basal ganglia: 29 nTPM
- thalamus: 29 nTPM
- cerebellum: 28 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PEX16.
Disease | AllUniProt
Conditions PEX16 is implicated in, by any mechanism.
- Peroxisome biogenesis disorder complementation group 9 (PBD-CG9) MIM:614876
- Peroxisome biogenesis disorder 8A (PBD8A) MIM:614876
- Peroxisome biogenesis disorder 8B (PBD8B) MIM:614877
Disease | GeneticClinVar
42 pathogenic / likely-pathogenic of 666 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Peroxisome biogenesis disorder
- Peroxisome biogenesis disorder 8B
- Peroxisome biogenesis disorder 8A (Zellweger)
- Ovarian serous cystadenocarcinoma
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.83
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.45
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- peroxisome membrane biogenesis
- peroxisome organization
- protein import into peroxisome matrix
- protein import into peroxisome membrane
- protein targeting to peroxisome
- protein to membrane docking
- ER-dependent peroxisome localization
- ER-dependent peroxisome organization
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Peroxisome membrane protein, Pex16
- Peroxisomal membrane protein (Pex16)
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PEX16 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PEX16 as an antibody target. Whether an autoantibody or antibody against PEX16 could matter depends on whether native PEX16 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PEX16 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PEX16 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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