PEX16

PEX16
Identifiers
Aliases	PEX16, PBD8A, PBD8B, peroxisomal biogenesis factor 16
External IDs	OMIM: 603360; MGI: 1338829; GeneCards: PEX16
Gene location (Human)
Chr.	Chromosome 11 (human)
End	45,918,812 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	92,211,562 bp
RNA expression pattern
	Top expressed in
	prefrontal cortex; ; granulocyte; ; right lobe of liver; ; anterior pituitary; ; C1 segment; ; body of pancreas; ; mucosa of transverse colon; ; endothelial cell; ; right frontal lobe; ; anterior cingulate cortex;
	Top expressed in
	left lobe of liver; ; morula; ; right kidney; ; lip; ; brown adipose tissue; ; subcutaneous adipose tissue; ; white adipose tissue; ; gastrula; ; duodenum; ; proximal tubule;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	protein C-terminus binding; protein binding;
Cellular component	integral component of membrane; peroxisomal membrane; peroxisome; endoplasmic reticulum membrane; endoplasmic reticulum; membrane; integral component of peroxisomal membrane;
Biological process	protein targeting to peroxisome; protein localization to endoplasmic reticulum; peroxisome membrane biogenesis; peroxisome organization; protein import into peroxisome matrix; protein to membrane docking; ER-dependent peroxisome organization; protein import into peroxisome membrane; ER-dependent peroxisome localization;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	9409
	18633
	ENSG00000121680
	ENSMUSG00000027222
	Q9Y5Y5
	Q91XC9
	NM_004813; NM_057174
	NM_145122
	NP_004804; NP_476515
	NP_660104
	Wikidata
View/Edit Human	View/Edit Mouse

Peroxisomal membrane protein PEX16 is a protein that in humans is encoded by the PEX16 gene.

Function

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.

Interactions

PEX16 has been shown to interact with PEX19.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000121680 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027222 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ South ST, Gould SJ (Mar 1999). "Peroxisome Synthesis in the Absence of Preexisting Peroxisomes". J Cell Biol. 144 (2): 255–66. doi:10.1083/jcb.144.2.255. PMC 2132891. PMID 9922452.
1 2 "Entrez Gene: PEX16 peroxisomal biogenesis factor 16".
↑ Fransen, M; Wylin T; Brees C; Mannaerts G P; Van Veldhoven P P (Jul 2001). "Human Pex19p Binds Peroxisomal Integral Membrane Proteins at Regions Distinct from Their Sorting Sequences". Mol. Cell. Biol. 21 (13): 4413–24. doi:10.1128/MCB.21.13.4413-4424.2001. ISSN 0270-7306. PMC 87101. PMID 11390669.

External links

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000121680 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027222 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9922452-5] South ST, Gould SJ (Mar 1999). "Peroxisome Synthesis in the Absence of Preexisting Peroxisomes". J Cell Biol. 144 (2): 255–66. doi:10.1083/jcb.144.2.255. PMC 2132891. PMID 9922452.

[entrez-6] 1 2 "Entrez Gene: PEX16 peroxisomal biogenesis factor 16".

[pmid11390669-7] Fransen, M; Wylin T; Brees C; Mannaerts G P; Van Veldhoven P P (Jul 2001). "Human Pex19p Binds Peroxisomal Integral Membrane Proteins at Regions Distinct from Their Sorting Sequences". Mol. Cell. Biol. 21 (13): 4413–24. doi:10.1128/MCB.21.13.4413-4424.2001. ISSN 0270-7306. PMC 87101. PMID 11390669.

PEX16

Function

Interactions

References

Further reading

External links