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Protein

Peroxisome assembly protein 12

Gene

PEX12

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

Functioni

Required for protein import into peroxisomes.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri304 – 343RING-type; degenerateAdd BLAST40

GO - Molecular functioni

  • protein C-terminus binding Source: UniProtKB
  • ubiquitin-protein transferase activity Source: GO_Central
  • zinc ion binding Source: UniProtKB

GO - Biological processi

  • peroxisome organization Source: UniProtKB
  • protein import into peroxisome matrix Source: UniProtKB
  • protein monoubiquitination Source: GO_Central
  • protein targeting to peroxisome Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108733-MONOMER.

Protein family/group databases

TCDBi3.A.20.1.1. the peroxisomal protein importer (ppi) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Peroxisome assembly protein 12
Alternative name(s):
Peroxin-12
Peroxisome assembly factor 3
Short name:
PAF-3
Gene namesi
Name:PEX12
Synonyms:PAF3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:8854. PEX12.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 158CytoplasmicSequence analysisAdd BLAST158
Transmembranei159 – 179HelicalSequence analysisAdd BLAST21
Topological domaini180 – 239Peroxisomal matrixSequence analysisAdd BLAST60
Transmembranei240 – 260HelicalSequence analysisAdd BLAST21
Topological domaini261 – 359CytoplasmicSequence analysisAdd BLAST99

GO - Cellular componenti

  • integral component of peroxisomal membrane Source: UniProtKB
  • peroxisomal importomer complex Source: GO_Central
  • peroxisomal membrane Source: UniProtKB
  • peroxisome Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Peroxisome biogenesis disorder complementation group 3 (PBD-CG3)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:614859
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05838934R → S in PBD-CG3. 1 PublicationCorresponds to variant rs147530802dbSNPEnsembl.1
Natural variantiVAR_058390178Missing in PBD-CG3. 1 Publication1
Natural variantiVAR_058391349Missing in PBD-CG3. 1 Publication1
Peroxisome biogenesis disorder 3A (PBD3A)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:614859
Peroxisome biogenesis disorder 3B (PBD3B)
The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Disease descriptionA peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.
See also OMIM:266510
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031998320S → F in PBD3B; attenuates interaction with PEX10 and decreases peroxisomal protein import. 2 PublicationsCorresponds to variant rs28936697dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi304C → W: Abolishes interaction with PEX19; when associated with Q-307. 1 Publication1
Mutagenesisi307C → Q: Abolishes interaction with PEX19; when associated with W-304. 1 Publication1

Keywords - Diseasei

Disease mutation, Peroxisome biogenesis disorder, Zellweger syndrome

Organism-specific databases

DisGeNETi5193.
MalaCardsiPEX12.
MIMi266510. phenotype.
614859. phenotype.
OpenTargetsiENSG00000108733.
Orphaneti772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBiPA33196.

Polymorphism and mutation databases

BioMutaiPEX12.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002186101 – 359Peroxisome assembly protein 12Add BLAST359

Proteomic databases

MaxQBiO00623.
PaxDbiO00623.
PeptideAtlasiO00623.
PRIDEiO00623.

PTM databases

iPTMnetiO00623.
PhosphoSitePlusiO00623.

Expressioni

Gene expression databases

BgeeiENSG00000108733.
CleanExiHS_PEX12.
ExpressionAtlasiO00623. baseline and differential.
GenevisibleiO00623. HS.

Organism-specific databases

HPAiHPA069386.

Interactioni

Subunit structurei

Interacts with PEX5 and PEX10. Interacts with PEX19 via its cytoplasmic domain.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
PEX19P408552EBI-594836,EBI-594747
PEX5P505424EBI-594836,EBI-597835

GO - Molecular functioni

  • protein C-terminus binding Source: UniProtKB

Protein-protein interaction databases

BioGridi111216. 4 interactors.
IntActiO00623. 3 interactors.
MINTiMINT-241654.
STRINGi9606.ENSP00000225873.

Structurei

3D structure databases

ProteinModelPortaliO00623.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi280 – 285Poly-Pro6

Sequence similaritiesi

Belongs to the pex2/pex10/pex12 family.Curated
Contains 1 RING-type zinc finger.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri304 – 343RING-type; degenerateAdd BLAST40

Keywords - Domaini

Transmembrane, Transmembrane helix, Zinc-finger

Phylogenomic databases

eggNOGiKOG0826. Eukaryota.
ENOG410Y4Q2. LUCA.
GeneTreeiENSGT00390000016209.
HOGENOMiHOG000038427.
HOVERGENiHBG053569.
InParanoidiO00623.
KOiK13345.
OMAiFHYVRSH.
OrthoDBiEOG091G0BN4.
PhylomeDBiO00623.
TreeFamiTF314511.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR017375. PEX12.
IPR006845. Pex_N.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PANTHERiPTHR12888. PTHR12888. 1 hit.
PfamiPF04757. Pex2_Pex12. 1 hit.
[Graphical view]
PIRSFiPIRSF038074. Peroxisome_assembly_p12. 1 hit.

Sequencei

Sequence statusi: Complete.

O00623-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAEHGAHFTA ASVADDQPSI FEVVAQDSLM TAVRPALQHV VKVLAESNPT
60 70 80 90 100
HYGFLWRWFD EIFTLLDLLL QQHYLSRTSA SFSENFYGLK RIVMGDTHKS
110 120 130 140 150
QRLASAGLPK QQLWKSIMFL VLLPYLKVKL EKLVSSLREE DEYSIHPPSS
160 170 180 190 200
RWKRFYRAFL AAYPFVNMAW EGWFLVQQLR YILGKAQHHS PLLRLAGVQL
210 220 230 240 250
GRLTVQDIQA LEHKPAKASM MQQPARSVSE KINSALKKAV GGVALSLSTG
260 270 280 290 300
LSVGVFFLQF LDWWYSSENQ ETIKSLTALP TPPPPVHLDY NSDSPLLPKM
310 320 330 340 350
KTVCPLCRKT RVNDTVLATS GYVFCYRCVF HYVRSHQACP ITGYPTEVQH

LIKLYSPEN
Length:359
Mass (Da):40,797
Last modified:July 1, 1997 - v1
Checksum:i1AF0BE6416422109
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05838934R → S in PBD-CG3. 1 PublicationCorresponds to variant rs147530802dbSNPEnsembl.1
Natural variantiVAR_058390178Missing in PBD-CG3. 1 Publication1
Natural variantiVAR_050495245L → I.1 PublicationCorresponds to variant rs12941376dbSNPEnsembl.1
Natural variantiVAR_031998320S → F in PBD3B; attenuates interaction with PEX10 and decreases peroxisomal protein import. 2 PublicationsCorresponds to variant rs28936697dbSNPEnsembl.1
Natural variantiVAR_058391349Missing in PBD-CG3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U91521 mRNA. Translation: AAC68812.1.
U91522 Genomic DNA. Translation: AAC68813.1.
AB004546 mRNA. Translation: BAA31559.1.
AK312635 mRNA. Translation: BAG35519.1.
CH471147 Genomic DNA. Translation: EAW80143.1.
BC031085 mRNA. Translation: AAH31085.1.
CCDSiCCDS11296.1.
RefSeqiNP_000277.1. NM_000286.2.
UniGeneiHs.591190.

Genome annotation databases

EnsembliENST00000225873; ENSP00000225873; ENSG00000108733.
ENST00000613219; ENSP00000482609; ENSG00000108733.
GeneIDi5193.
KEGGihsa:5193.
UCSCiuc002hjp.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

dbPEX, PEX Gene Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U91521 mRNA. Translation: AAC68812.1.
U91522 Genomic DNA. Translation: AAC68813.1.
AB004546 mRNA. Translation: BAA31559.1.
AK312635 mRNA. Translation: BAG35519.1.
CH471147 Genomic DNA. Translation: EAW80143.1.
BC031085 mRNA. Translation: AAH31085.1.
CCDSiCCDS11296.1.
RefSeqiNP_000277.1. NM_000286.2.
UniGeneiHs.591190.

3D structure databases

ProteinModelPortaliO00623.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111216. 4 interactors.
IntActiO00623. 3 interactors.
MINTiMINT-241654.
STRINGi9606.ENSP00000225873.

Protein family/group databases

TCDBi3.A.20.1.1. the peroxisomal protein importer (ppi) family.

PTM databases

iPTMnetiO00623.
PhosphoSitePlusiO00623.

Polymorphism and mutation databases

BioMutaiPEX12.

Proteomic databases

MaxQBiO00623.
PaxDbiO00623.
PeptideAtlasiO00623.
PRIDEiO00623.

Protocols and materials databases

DNASUi5193.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000225873; ENSP00000225873; ENSG00000108733.
ENST00000613219; ENSP00000482609; ENSG00000108733.
GeneIDi5193.
KEGGihsa:5193.
UCSCiuc002hjp.4. human.

Organism-specific databases

CTDi5193.
DisGeNETi5193.
GeneCardsiPEX12.
GeneReviewsiPEX12.
HGNCiHGNC:8854. PEX12.
HPAiHPA069386.
MalaCardsiPEX12.
MIMi266510. phenotype.
601758. gene.
614859. phenotype.
neXtProtiNX_O00623.
OpenTargetsiENSG00000108733.
Orphaneti772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBiPA33196.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0826. Eukaryota.
ENOG410Y4Q2. LUCA.
GeneTreeiENSGT00390000016209.
HOGENOMiHOG000038427.
HOVERGENiHBG053569.
InParanoidiO00623.
KOiK13345.
OMAiFHYVRSH.
OrthoDBiEOG091G0BN4.
PhylomeDBiO00623.
TreeFamiTF314511.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108733-MONOMER.

Miscellaneous databases

GeneWikiiPEX12.
GenomeRNAii5193.
PROiO00623.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000108733.
CleanExiHS_PEX12.
ExpressionAtlasiO00623. baseline and differential.
GenevisibleiO00623. HS.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR017375. PEX12.
IPR006845. Pex_N.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PANTHERiPTHR12888. PTHR12888. 1 hit.
PfamiPF04757. Pex2_Pex12. 1 hit.
[Graphical view]
PIRSFiPIRSF038074. Peroxisome_assembly_p12. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiPEX12_HUMAN
AccessioniPrimary (citable) accession number: O00623
Secondary accession number(s): B2R6M2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 1, 1997
Last modified: November 2, 2016
This is version 145 of the entry and version 1 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 17
    Human chromosome 17: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.