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Protein

Peroxisomal biogenesis factor 19

Gene

PEX19

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

Functioni

Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53.6 Publications

GO - Molecular functioni

  • ATPase binding Source: UniProtKB
  • peroxisome membrane class-1 targeting sequence binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB

GO - Biological processi

  • chaperone-mediated protein folding Source: UniProtKB
  • chaperone-mediated protein transport Source: UniProtKB
  • establishment of protein localization to peroxisome Source: UniProtKB
  • negative regulation of lipid binding Source: UniProtKB
  • peroxisome fission Source: UniProtKB
  • peroxisome membrane biogenesis Source: UniProtKB
  • peroxisome organization Source: UniProtKB
  • protein import into peroxisome membrane Source: UniProtKB
  • protein stabilization Source: UniProtKB
  • protein targeting to peroxisome Source: UniProtKB
  • transmembrane transport Source: Reactome

Keywordsi

Biological processPeroxisome biogenesis

Enzyme and pathway databases

ReactomeiR-HSA-1369062. ABC transporters in lipid homeostasis.
SIGNORiP40855.

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 biogenesis factor 19
Alternative name(s):
33 kDa housekeeping protein
Peroxin-19
Peroxisomal farnesylated protein
Gene namesi
Name:PEX19
Synonyms:HK33, PXF
ORF Names:OK/SW-cl.22
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:9713. PEX19.

Subcellular locationi

GO - Cellular componenti

  • brush border membrane Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • cytosol Source: UniProtKB
  • integral component of membrane Source: UniProtKB
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
  • peroxisomal membrane Source: UniProtKB
  • peroxisome Source: UniProtKB
  • protein complex Source: UniProtKB

Keywords - Cellular componenti

Cytoplasm, Membrane, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Peroxisome biogenesis disorder complementation group 14 (PBD-CG14)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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).
See also OMIM:614886
Peroxisome biogenesis disorder 12A (PBD12A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614886

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi29F → A: Abolishes binding to PEX3. 1 Publication1
Mutagenesisi296 – 299Missing : Abolishes binding to PEX10, PEX11B, PEX12 and PEX13. Does not affect binding to PEX3 and PEX16. 1 Publication4
Mutagenesisi296C → A: Slightly inhibits PEX19 function on peroxisome biogenesis. 4 Publications1
Mutagenesisi296C → S: Abolishes farnesylation. Abolishes PEX19 function on peroxisome biogenesis. Does not affect binding to ABCD1, ABCD2 and ABCD3. 4 Publications1

Keywords - Diseasei

Peroxisome biogenesis disorder, Zellweger syndrome

Organism-specific databases

DisGeNETi5824.
GeneReviewsiPEX19.
MalaCardsiPEX19.
MIMi614886. phenotype.
OpenTargetsiENSG00000162735.
Orphaneti772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBiPA34058.

Polymorphism and mutation databases

BioMutaiPEX19.
DMDMi729723.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002187592 – 296Peroxisomal biogenesis factor 19Add BLAST295
PropeptideiPRO_0000393944297 – 299Removed in mature formCurated3

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei35PhosphoserineCombined sources1
Modified residuei54PhosphoserineCombined sources1
Modified residuei66PhosphoserineBy similarity1
Modified residuei236PhosphothreonineBy similarity1
Modified residuei296Cysteine methyl esterCurated1
Lipidationi296S-farnesyl cysteine2 Publications1

Keywords - PTMi

Acetylation, Lipoprotein, Methylation, Phosphoprotein, Prenylation

Proteomic databases

EPDiP40855.
PaxDbiP40855.
PeptideAtlasiP40855.
PRIDEiP40855.

PTM databases

iPTMnetiP40855.
PhosphoSitePlusiP40855.

Expressioni

Tissue specificityi

Ubiquitously expressed. Isoform 1 is strongly predominant in all tissues except in utero where isoform 2 is the main form.1 Publication

Gene expression databases

BgeeiENSG00000162735.
CleanExiHS_PEX19.
ExpressionAtlasiP40855. baseline and differential.
GenevisibleiP40855. HS.

Organism-specific databases

HPAiHPA044837.
HPA051966.

Interactioni

Subunit structurei

Interacts with a broad range of peroxisomal membrane proteins, including PEX3, PEX10, PEX11A, PEX11B, PEX12, PEX13, PEX14 and PEX16, PXMP2/PMP22, PXMP4/PMP24, SLC25A17/PMP34, ABCD1/ALDP, ABCD2/ALDRP, and ABCD3/PMP70. Also interacts with the tumor suppressor CDKN2A/p19ARF.10 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • ATPase binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB

Protein-protein interaction databases

BioGridi111782. 124 interactors.
DIPiDIP-24172N.
ELMiP40855.
IntActiP40855. 43 interactors.
MINTiMINT-241394.
STRINGi9606.ENSP00000357051.

Structurei

Secondary structure

1299
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi16 – 27Combined sources12
Helixi28 – 31Combined sources4
Helixi67 – 76Combined sources10
Helixi172 – 182Combined sources11
Helixi185 – 196Combined sources12
Helixi199 – 206Combined sources8
Helixi207 – 209Combined sources3
Helixi212 – 234Combined sources23
Helixi241 – 260Combined sources20
Helixi266 – 268Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2W85NMR-B66-77[»]
2WL8X-ray2.05A/B/C/D161-283[»]
3AJBX-ray2.50B1-44[»]
3MK4X-ray2.42B14-33[»]
5LNFNMR-A161-299[»]
ProteinModelPortaliP40855.
SMRiP40855.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP40855.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 91Necessary for PEX19 function on peroxisome biogenesisAdd BLAST90
Regioni2 – 56Docking to the peroxisome membrane and binding to PEX3Add BLAST55

Sequence similaritiesi

Belongs to the peroxin-19 family.Curated

Phylogenomic databases

eggNOGiKOG3133. Eukaryota.
ENOG4111QGU. LUCA.
GeneTreeiENSGT00390000010993.
HOGENOMiHOG000038537.
HOVERGENiHBG053573.
InParanoidiP40855.
KOiK13337.
OMAiLQDYGQP.
OrthoDBiEOG091G0IMB.
PhylomeDBiP40855.
TreeFamiTF315082.

Family and domain databases

InterProiView protein in InterPro
IPR006708. Pex19.
PANTHERiPTHR12774. PTHR12774. 1 hit.
PfamiView protein in Pfam
PF04614. Pex19. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Experimental confirmation may be lacking for some isoforms.
Isoform 1 (identifier: P40855-1) [UniParc]FASTAAdd to basket
Also known as: PXF-all

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
MAAAEEGCSV GAEADRELEE LLESALDDFD KAKPSPAPPS TTTAPDASGP
60 70 80 90 100
QKRSPGDTAK DALFASQEKF FQELFDSELA SQATAEFEKA MKELAEEEPH
110 120 130 140 150
LVEQFQKLSE AAGRVGSDMT SQQEFTSCLK ETLSGLAKNA TDLQNSSMSE
160 170 180 190 200
EELTKAMEGL GMDEGDGEGN ILPIMQSIMQ NLLSKDVLYP SLKEITEKYP
210 220 230 240 250
EWLQSHRESL PPEQFEKYQE QHSVMCKICE QFEAETPTDS ETTQKARFEM
260 270 280 290
VLDLMQQLQD LGHPPKELAG EMPPGLNFDL DALNLSGPPG ASGEQCLIM
Note: The two main transcripts are PXF-all and PXF-delta-2.
Length:299
Mass (Da):32,807
Last modified:February 1, 1995 - v1
Checksum:i399AF6B79F219100
GO
Isoform 2 (identifier: P40855-2)
Also known as: PXF-delta-2, PXF lacking exon 2
Sequence is not available
Note: The two main transcripts are PXF-all and PXF-delta-2.
Length:
Mass (Da):
Isoform 3 (identifier: P40855-3)
Also known as: PXF-delta-4, PXF lacking exon 4
Sequence is not available
Length:
Mass (Da):
Isoform 4 (identifier: P40855-4)
Also known as: PXF-delta-8, PXF lacking part of exon 8
Sequence is not available
Length:
Mass (Da):
Isoform 5 (identifier: P40855-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-59: MAAAEEGCSV...PQKRSPGDTA → PPLRKAVVSGPKRTGNWRSFW

Note: Incomplete sequence.
Show »
Length:261
Mass (Da):29,259
Checksum:i5174D3C039E6A3B6
GO

Sequence cautioni

The sequence BAB93469 differs from that shown. Reason: Erroneous initiation.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0126491 – 59MAAAE…PGDTA → PPLRKAVVSGPKRTGNWRSF W in isoform 5. 1 PublicationAdd BLAST59

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X75535 mRNA. Translation: CAA53225.1.
Y09048 Genomic DNA. Translation: CAA70257.1.
AB018541 mRNA. Translation: BAA76291.1.
AB062286 mRNA. Translation: BAB93469.1. Different initiation.
BT006879 mRNA. Translation: AAP35525.1.
AL513282 Genomic DNA. Translation: CAI12457.1.
CH471121 Genomic DNA. Translation: EAW52728.1.
CH471121 Genomic DNA. Translation: EAW52729.1.
BC000496 mRNA. Translation: AAH00496.1.
CCDSiCCDS1201.1. [P40855-1]
PIRiI37468.
RefSeqiNP_001180573.1. NM_001193644.1.
NP_002848.1. NM_002857.3. [P40855-1]
UniGeneiHs.517232.

Genome annotation databases

EnsembliENST00000368072; ENSP00000357051; ENSG00000162735. [P40855-1]
GeneIDi5824.
KEGGihsa:5824.
UCSCiuc001fvs.3. human. [P40855-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiPEX19_HUMAN
AccessioniPrimary (citable) accession number: P40855
Secondary accession number(s): D3DVE7, Q5QNY4, Q8NI97
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: August 30, 2017
This is version 177 of the entry and version 1 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families