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Q9Y5Y5 (PEX16_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Peroxisomal membrane protein PEX16
Alternative name(s):
Peroxin-16
Peroxisomal biogenesis factor 16
Gene names
Name:PEX16
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length336 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.5 Ref.7 Ref.9

Subunit structure

Interacts with PEX19. Ref.5 Ref.6 Ref.8

Subcellular location

Peroxisome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane Ref.6.

Involvement in disease

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. Ref.1

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

Sequence similarities

Belongs to the peroxin-16 family.

Ontologies

Keywords
   Biological processPeroxisome biogenesis
   Cellular componentEndoplasmic reticulum
Membrane
Peroxisome
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Peroxisome biogenesis disorder
Zellweger syndrome
   DomainTransmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processER-dependent peroxisome organization

Inferred from direct assay Ref.9. Source: UniProtKB

peroxisome membrane biogenesis

Inferred from mutant phenotype Ref.7Ref.1. Source: UniProtKB

peroxisome organization

Inferred from mutant phenotype PubMed 15813749PubMed 19479899. Source: UniProtKB

protein import into peroxisome matrix

Inferred from mutant phenotype Ref.2. Source: MGI

protein import into peroxisome membrane

Inferred from mutant phenotype Ref.7. Source: UniProtKB

protein localization to endoplasmic reticulum

Inferred from direct assay PubMed 19479899. Source: UniProtKB

protein targeting to peroxisome

Inferred from mutant phenotype Ref.1. Source: UniProtKB

protein to membrane docking

Inferred from direct assay PubMed 19114594. Source: UniProtKB

   Cellular_componentendoplasmic reticulum

Inferred from direct assay PubMed 19479899PubMed 21768384. Source: UniProtKB

endoplasmic reticulum membrane

Inferred from direct assay Ref.9. Source: UniProtKB

integral component of peroxisomal membrane

Inferred from direct assay Ref.7. Source: UniProtKB

peroxisomal membrane

Inferred from direct assay PubMed 21525035. Source: UniProtKB

peroxisome

Inferred from direct assay PubMed 15813749PubMed 21768384Ref.1. Source: UniProtKB

   Molecular_functionprotein C-terminus binding

Inferred from physical interaction PubMed 15713480. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

PEX19P408556EBI-981985,EBI-594747

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y5Y5-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9Y5Y5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     318-336: RPLMDYLPTWQKIYFYSWG → TSQRAASPCLPARPHTQPWSPPAFLPGHP

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 336336Peroxisomal membrane protein PEX16
PRO_0000058330

Regions

Topological domain1 – 8484Cytoplasmic Potential
Transmembrane85 – 10521Helical; Potential
Topological domain106 – 1105Peroxisomal Potential
Transmembrane111 – 13121Helical; Potential
Topological domain132 – 336205Cytoplasmic Potential
Region66 – 8116Required for peroxisomal location
Region221 – 336116Interaction with PEX19

Natural variations

Alternative sequence318 – 33619RPLMD…FYSWG → TSQRAASPCLPARPHTQPWS PPAFLPGHP in isoform 2.
VSP_036593
Natural variant1031V → M.
Corresponds to variant rs11553094 [ dbSNP | Ensembl ].
VAR_051272
Natural variant1161V → I. Ref.1 Ref.2 Ref.4
Corresponds to variant rs10742772 [ dbSNP | Ensembl ].
VAR_061841
Natural variant2521Missing in PBD8B. Ref.10
VAR_069208
Natural variant2541V → L.
Corresponds to variant rs35214605 [ dbSNP | Ensembl ].
VAR_034145
Natural variant2891P → T in PBD8B. Ref.10
VAR_069209
Natural variant3311Y → C in PBD8B. Ref.10
VAR_069210

Experimental info

Sequence conflict1071V → L in AAH00467. Ref.4
Sequence conflict1251M → I in AAH00467. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 3, 2011. Version 2.
Checksum: 57243AEE0B165C59

FASTA33638,629
        10         20         30         40         50         60 
MEKLRLLGLR YQEYVTRHPA ATAQLETAVR GFSYLLAGRF ADSHELSELV YSASNLLVLL 

        70         80         90        100        110        120 
NDGILRKELR KKLPVSLSQQ KLLTWLSVLE CVEVFMEMGA AKVWGEVGRW LVIALVQLAK 

       130        140        150        160        170        180 
AVLRMLLLLW FKAGLQTSPP IVPLDRETQA QPPDGDHSPG NHEQSYVGKR SNRVVRTLQN 

       190        200        210        220        230        240 
TPSLHSRHWG APQQREGRQQ QHHEELSATP TPLGLQETIA EFLYIARPLL HLLSLGLWGQ 

       250        260        270        280        290        300 
RSWKPWLLAG VVDVTSLSLL SDRKGLTRRE RRELRRRTIL LLYYLLRSPF YDRFSEARIL 

       310        320        330 
FLLQLLADHV PGVGLVTRPL MDYLPTWQKI YFYSWG 

« Hide

Isoform 2 [UniParc].

Checksum: 2C7FE986CF33B64B
Show »

FASTA34639,270

References

« Hide 'large scale' references
[1]"Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D."
Honsho M., Tamura S., Shimozawa N., Suzuki Y., Kondo N., Fujiki Y.
Am. J. Hum. Genet. 63:1622-1630(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN PBD-CG9 AND PBD8A, VARIANT ILE-116.
[2]"Peroxisome synthesis in the absence of preexisting peroxisomes."
South S.T., Gould S.J.
J. Cell Biol. 144:255-266(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ILE-116.
[3]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ILE-116.
Tissue: Lung.
[5]"PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis."
Sacksteder K.A., Jones J.M., South S.T., Li X., Liu Y., Gould S.J.
J. Cell Biol. 148:931-944(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH PEX19.
[6]"Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences."
Fransen M., Wylin T., Brees C., Mannaerts G.P., Van Veldhoven P.P.
Mol. Cell. Biol. 21:4413-4424(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH PEX19, SUBCELLULAR LOCATION.
[7]"The membrane biogenesis peroxin Pex16p. Topogenesis and functional roles in peroxisomal membrane assembly."
Honsho M., Hiroshige T., Fujiki Y.
J. Biol. Chem. 277:44513-44524(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TOPOLOGY.
[8]"PEX19 is a predominantly cytosolic chaperone and import receptor for class 1 peroxisomal membrane proteins."
Jones J.M., Morrell J.C., Gould S.J.
J. Cell Biol. 164:57-67(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH PEX19.
[9]"The origin and maintenance of mammalian peroxisomes involves a de novo PEX16-dependent pathway from the ER."
Kim P.K., Mullen R.T., Schumann U., Lippincott-Schwartz J.
J. Cell Biol. 173:521-532(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[10]"Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene."
Ebberink M.S., Csanyi B., Chong W.K., Denis S., Sharp P., Mooijer P.A., Dekker C.J., Spooner C., Ngu L.H., De Sousa C., Wanders R.J., Fietz M.J., Clayton P.T., Waterham H.R., Ferdinandusse S.
J. Med. Genet. 47:608-615(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PBD8B VAL-252 DEL; THR-289 AND CYS-331.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB016531 mRNA. Translation: BAA88826.1.
AF118240 mRNA. Translation: AAD22466.1.
AC068385 Genomic DNA. No translation available.
BC004356 mRNA. Translation: AAH04356.1.
BC000467 mRNA. Translation: AAH00467.1.
RefSeqNP_004804.1. NM_004813.2.
NP_476515.1. NM_057174.2.
UniGeneHs.100915.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114804. 3 interactions.
IntActQ9Y5Y5. 3 interactions.
MINTMINT-241739.
STRING9606.ENSP00000241041.

Protein family/group databases

TCDB9.A.17.1.2. the integral membrane peroxisomal protein importer-2 (ppi2) family.

PTM databases

PhosphoSiteQ9Y5Y5.

Polymorphism databases

DMDM332278135.

Proteomic databases

PaxDbQ9Y5Y5.
PRIDEQ9Y5Y5.

Protocols and materials databases

DNASU9409.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000241041; ENSP00000241041; ENSG00000121680. [Q9Y5Y5-2]
ENST00000378750; ENSP00000368024; ENSG00000121680. [Q9Y5Y5-1]
GeneID9409.
KEGGhsa:9409.
UCSCuc001nbt.3. human. [Q9Y5Y5-2]
uc001nbu.3. human. [Q9Y5Y5-1]

Organism-specific databases

CTD9409.
GeneCardsGC11M045931.
HGNCHGNC:8857. PEX16.
HPAHPA043286.
MIM603360. gene.
614876. phenotype.
614877. phenotype.
neXtProtNX_Q9Y5Y5.
Orphanet772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBPA33199.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG289038.
HOGENOMHOG000008062.
HOVERGENHBG053572.
KOK13335.
OMALVTTSQR.
OrthoDBEOG7XWPNZ.
TreeFamTF324139.

Gene expression databases

ArrayExpressQ9Y5Y5.
BgeeQ9Y5Y5.
CleanExHS_PEX16.
GenevestigatorQ9Y5Y5.

Family and domain databases

InterProIPR013919. Pex16.
[Graphical view]
PfamPF08610. Pex16. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPEX16.
GenomeRNAi9409.
NextBio35246.
PROQ9Y5Y5.
SOURCESearch...

Entry information

Entry namePEX16_HUMAN
AccessionPrimary (citable) accession number: Q9Y5Y5
Secondary accession number(s): Q9BWB9
Entry history
Integrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: May 3, 2011
Last modified: April 16, 2014
This is version 119 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM