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Q9Y5Y5

- PEX16_HUMAN

UniProt

Q9Y5Y5 - PEX16_HUMAN

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Protein

Peroxisomal membrane protein PEX16

Gene

PEX16

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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 PEX3.3 Publications

GO - Molecular functioni

  1. protein C-terminus binding Source: UniProtKB

GO - Biological processi

  1. ER-dependent peroxisome organization Source: UniProtKB
  2. peroxisome membrane biogenesis Source: UniProtKB
  3. peroxisome organization Source: UniProtKB
  4. protein import into peroxisome matrix Source: MGI
  5. protein import into peroxisome membrane Source: UniProtKB
  6. protein localization to endoplasmic reticulum Source: UniProtKB
  7. protein targeting to peroxisome Source: UniProtKB
  8. protein to membrane docking Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Peroxisome biogenesis

Protein family/group databases

TCDBi9.A.17.1.2. the integral membrane peroxisomal protein importer-2 (ppi2) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Peroxisomal membrane protein PEX16
Alternative name(s):
Peroxin-16
Peroxisomal biogenesis factor 16
Gene namesi
Name:PEX16
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:8857. PEX16.

Subcellular locationi

Peroxisome membrane 1 Publication; Multi-pass membrane protein 1 Publication. Endoplasmic reticulum membrane 1 Publication

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB
  2. endoplasmic reticulum membrane Source: UniProtKB
  3. integral component of peroxisomal membrane Source: UniProtKB
  4. membrane Source: UniProtKB
  5. peroxisomal membrane Source: UniProtKB
  6. peroxisome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Peroxisome

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti252 – 2521Missing in PBD8B. 1 Publication
VAR_069208
Natural varianti289 – 2891P → T in PBD8B. 1 Publication
VAR_069209
Natural varianti331 – 3311Y → C in PBD8B. 1 Publication
VAR_069210

Keywords - Diseasei

Disease mutation, Peroxisome biogenesis disorder, Zellweger syndrome

Organism-specific databases

MIMi614876. phenotype.
614877. phenotype.
Orphaneti772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBiPA33199.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 336336Peroxisomal membrane protein PEX16PRO_0000058330Add
BLAST

Proteomic databases

MaxQBiQ9Y5Y5.
PaxDbiQ9Y5Y5.
PRIDEiQ9Y5Y5.

PTM databases

PhosphoSiteiQ9Y5Y5.

Expressioni

Gene expression databases

BgeeiQ9Y5Y5.
CleanExiHS_PEX16.
ExpressionAtlasiQ9Y5Y5. baseline and differential.
GenevestigatoriQ9Y5Y5.

Organism-specific databases

HPAiHPA043286.

Interactioni

Subunit structurei

Interacts with PEX19.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
PEX19P408556EBI-981985,EBI-594747

Protein-protein interaction databases

BioGridi114804. 3 interactions.
IntActiQ9Y5Y5. 3 interactions.
MINTiMINT-241739.
STRINGi9606.ENSP00000241041.

Structurei

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 8484CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini106 – 1105PeroxisomalSequence Analysis
Topological domaini132 – 336205CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei85 – 10521HelicalSequence AnalysisAdd
BLAST
Transmembranei111 – 13121HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni66 – 8116Required for peroxisomal locationAdd
BLAST
Regioni221 – 336116Interaction with PEX19Add
BLAST

Sequence similaritiesi

Belongs to the peroxin-16 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG289038.
GeneTreeiENSGT00390000017790.
HOGENOMiHOG000008062.
HOVERGENiHBG053572.
InParanoidiQ9Y5Y5.
KOiK13335.
OMAiPLNREQQ.
OrthoDBiEOG7XWPNZ.
TreeFamiTF324139.

Family and domain databases

InterProiIPR013919. Pex16.
[Graphical view]
PfamiPF08610. Pex16. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9Y5Y5) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MEKLRLLGLR YQEYVTRHPA ATAQLETAVR GFSYLLAGRF ADSHELSELV
60 70 80 90 100
YSASNLLVLL NDGILRKELR KKLPVSLSQQ KLLTWLSVLE CVEVFMEMGA
110 120 130 140 150
AKVWGEVGRW LVIALVQLAK AVLRMLLLLW FKAGLQTSPP IVPLDRETQA
160 170 180 190 200
QPPDGDHSPG NHEQSYVGKR SNRVVRTLQN TPSLHSRHWG APQQREGRQQ
210 220 230 240 250
QHHEELSATP TPLGLQETIA EFLYIARPLL HLLSLGLWGQ RSWKPWLLAG
260 270 280 290 300
VVDVTSLSLL SDRKGLTRRE RRELRRRTIL LLYYLLRSPF YDRFSEARIL
310 320 330
FLLQLLADHV PGVGLVTRPL MDYLPTWQKI YFYSWG
Length:336
Mass (Da):38,629
Last modified:May 3, 2011 - v2
Checksum:i57243AEE0B165C59
GO
Isoform 2 (identifier: Q9Y5Y5-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:346
Mass (Da):39,270
Checksum:i2C7FE986CF33B64B
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti107 – 1071V → L in AAH00467. (PubMed:15489334)Curated
Sequence conflicti125 – 1251M → I in AAH00467. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti103 – 1031V → M.
Corresponds to variant rs11553094 [ dbSNP | Ensembl ].
VAR_051272
Natural varianti116 – 1161V → I.3 Publications
Corresponds to variant rs10742772 [ dbSNP | Ensembl ].
VAR_061841
Natural varianti252 – 2521Missing in PBD8B. 1 Publication
VAR_069208
Natural varianti254 – 2541V → L.
Corresponds to variant rs35214605 [ dbSNP | Ensembl ].
VAR_034145
Natural varianti289 – 2891P → T in PBD8B. 1 Publication
VAR_069209
Natural varianti331 – 3311Y → C in PBD8B. 1 Publication
VAR_069210

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei318 – 33619RPLMD…FYSWG → TSQRAASPCLPARPHTQPWS PPAFLPGHP in isoform 2. 1 PublicationVSP_036593Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS31472.1. [Q9Y5Y5-1]
CCDS7917.1. [Q9Y5Y5-2]
RefSeqiNP_004804.1. NM_004813.2.
NP_476515.1. NM_057174.2.
UniGeneiHs.100915.

Genome annotation databases

EnsembliENST00000241041; ENSP00000241041; ENSG00000121680. [Q9Y5Y5-2]
ENST00000378750; ENSP00000368024; ENSG00000121680. [Q9Y5Y5-1]
GeneIDi9409.
KEGGihsa:9409.
UCSCiuc001nbt.3. human. [Q9Y5Y5-2]
uc001nbu.3. human. [Q9Y5Y5-1]

Polymorphism databases

DMDMi332278135.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS31472.1. [Q9Y5Y5-1 ]
CCDS7917.1. [Q9Y5Y5-2 ]
RefSeqi NP_004804.1. NM_004813.2.
NP_476515.1. NM_057174.2.
UniGenei Hs.100915.

3D structure databases

ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114804. 3 interactions.
IntActi Q9Y5Y5. 3 interactions.
MINTi MINT-241739.
STRINGi 9606.ENSP00000241041.

Protein family/group databases

TCDBi 9.A.17.1.2. the integral membrane peroxisomal protein importer-2 (ppi2) family.

PTM databases

PhosphoSitei Q9Y5Y5.

Polymorphism databases

DMDMi 332278135.

Proteomic databases

MaxQBi Q9Y5Y5.
PaxDbi Q9Y5Y5.
PRIDEi Q9Y5Y5.

Protocols and materials databases

DNASUi 9409.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000241041 ; ENSP00000241041 ; ENSG00000121680 . [Q9Y5Y5-2 ]
ENST00000378750 ; ENSP00000368024 ; ENSG00000121680 . [Q9Y5Y5-1 ]
GeneIDi 9409.
KEGGi hsa:9409.
UCSCi uc001nbt.3. human. [Q9Y5Y5-2 ]
uc001nbu.3. human. [Q9Y5Y5-1 ]

Organism-specific databases

CTDi 9409.
GeneCardsi GC11M045931.
GeneReviewsi PEX16.
HGNCi HGNC:8857. PEX16.
HPAi HPA043286.
MIMi 603360. gene.
614876. phenotype.
614877. phenotype.
neXtProti NX_Q9Y5Y5.
Orphaneti 772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBi PA33199.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG289038.
GeneTreei ENSGT00390000017790.
HOGENOMi HOG000008062.
HOVERGENi HBG053572.
InParanoidi Q9Y5Y5.
KOi K13335.
OMAi PLNREQQ.
OrthoDBi EOG7XWPNZ.
TreeFami TF324139.

Miscellaneous databases

GeneWikii PEX16.
GenomeRNAii 9409.
NextBioi 35246.
PROi Q9Y5Y5.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y5Y5.
CleanExi HS_PEX16.
ExpressionAtlasi Q9Y5Y5. baseline and differential.
Genevestigatori Q9Y5Y5.

Family and domain databases

InterProi IPR013919. Pex16.
[Graphical view ]
Pfami PF08610. Pex16. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. Cited for: VARIANTS PBD8B VAL-252 DEL; THR-289 AND CYS-331.

Entry informationi

Entry nameiPEX16_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5Y5
Secondary accession number(s): Q9BWB9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: May 3, 2011
Last modified: October 29, 2014
This is version 124 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3