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Protein

Peroxisome assembly protein 12

Gene

PEX12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-9033241 Peroxisomal protein import
SIGNORiO00623

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

EuPathDBiHostDB:ENSG00000108733.9
HGNCiHGNC:8854 PEX12
MIMi601758 gene
neXtProtiNX_O00623

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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 dbSNP:rs147530802EnsemblClinVar.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 dbSNP:rs28936697EnsemblClinVar.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
GeneReviewsiPEX12
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

EPDiO00623
MaxQBiO00623
PaxDbiO00623
PeptideAtlasiO00623
PRIDEiO00623
ProteomicsDBi47996

PTM databases

iPTMnetiO00623
PhosphoSitePlusiO00623

Expressioni

Gene expression databases

BgeeiENSG00000108733 Expressed in 205 organ(s), highest expression level in secondary oocyte
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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111216, 4 interactors
IntActiO00623, 38 interactors
MINTiO00623
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

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
OMAiQFLDWWY
OrthoDBiEOG091G0BN4
PhylomeDBiO00623
TreeFamiTF314511

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR017375 PEX12
IPR006845 Pex_N
IPR013083 Znf_RING/FYVE/PHD
PANTHERiPTHR12888 PTHR12888, 1 hit
PfamiView protein in Pfam
PF04757 Pex2_Pex12, 1 hit
PIRSFiPIRSF038074 Peroxisome_assembly_p12, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A075B773A0A075B773_HUMAN
Peroxisome assembly protein 12
PEX12
358Annotation score:
K7ELY8K7ELY8_HUMAN
Peroxisome assembly protein 12
PEX12
221Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05838934R → S in PBD-CG3. 1 PublicationCorresponds to variant dbSNP:rs147530802EnsemblClinVar.1
Natural variantiVAR_058390178Missing in PBD-CG3. 1 Publication1
Natural variantiVAR_050495245L → I1 PublicationCorresponds to variant dbSNP:rs12941376Ensembl.1
Natural variantiVAR_031998320S → F in PBD3B; attenuates interaction with PEX10 and decreases peroxisomal protein import. 2 PublicationsCorresponds to variant dbSNP:rs28936697EnsemblClinVar.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

Similar proteinsi

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, 38 interactors
MINTiO00623
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

EPDiO00623
MaxQBiO00623
PaxDbiO00623
PeptideAtlasiO00623
PRIDEiO00623
ProteomicsDBi47996

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
EuPathDBiHostDB:ENSG00000108733.9
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
OMAiQFLDWWY
OrthoDBiEOG091G0BN4
PhylomeDBiO00623
TreeFamiTF314511

Enzyme and pathway databases

ReactomeiR-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-9033241 Peroxisomal protein import
SIGNORiO00623

Miscellaneous databases

GeneWikiiPEX12
GenomeRNAii5193
PROiPR:O00623
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000108733 Expressed in 205 organ(s), highest expression level in secondary oocyte
CleanExiHS_PEX12
ExpressionAtlasiO00623 baseline and differential
GenevisibleiO00623 HS

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR017375 PEX12
IPR006845 Pex_N
IPR013083 Znf_RING/FYVE/PHD
PANTHERiPTHR12888 PTHR12888, 1 hit
PfamiView protein in Pfam
PF04757 Pex2_Pex12, 1 hit
PIRSFiPIRSF038074 Peroxisome_assembly_p12, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPEX12_HUMAN
AccessioniPrimary (citable) accession number: O00623
Secondary accession number(s): B2R6M2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 1, 1997
Last modified: November 7, 2018
This is version 159 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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