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Entry version 165 (16 Oct 2019)
Sequence version 1 (01 Jul 1997)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Required for protein import into peroxisomes.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri304 – 343RING-type; degenerateAdd BLAST40

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

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

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-9033241 Peroxisomal protein import
R-HSA-9603798 Class I peroxisomal membrane protein import

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O00623

Protein family/group databases

Transport Classification Database

More...
TCDBi
3.A.20.1.1 the peroxisomal protein importer (ppi) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Peroxisome assembly protein 12
Alternative name(s):
Peroxin-12
Peroxisome assembly factor 3
Short name:
PAF-3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PEX12
Synonyms:PAF3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8854 PEX12

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601758 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O00623

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 158CytoplasmicSequence analysisAdd BLAST158
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei159 – 179HelicalSequence analysisAdd BLAST21
Topological domaini180 – 239Peroxisomal matrixSequence analysisAdd BLAST60
Transmembranei240 – 260HelicalSequence analysisAdd BLAST21
Topological domaini261 – 359CytoplasmicSequence analysisAdd BLAST99

Keywords - Cellular componenti

Membrane, Peroxisome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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).
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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.
Related information in OMIM
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.
Related information in OMIM
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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
5193

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
PEX12

MalaCards human disease database

More...
MalaCardsi
PEX12
MIMi266510 phenotype
614859 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000108733

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
772 Infantile Refsum disease
44 Neonatal adrenoleukodystrophy
912 Zellweger syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33196

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O00623

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PEX12

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002186101 – 359Peroxisome assembly protein 12Add BLAST359

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O00623

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O00623

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
O00623

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O00623

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O00623

PeptideAtlas

More...
PeptideAtlasi
O00623

PRoteomics IDEntifications database

More...
PRIDEi
O00623

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
47996

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O00623

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O00623

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000108733 Expressed in 205 organ(s), highest expression level in secondary oocyte

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O00623 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O00623 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA069386

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with PEX5 and PEX10.

Interacts with PEX19 via its cytoplasmic domain.

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
111216, 5 interactors

Protein interaction database and analysis system

More...
IntActi
O00623, 38 interactors

Molecular INTeraction database

More...
MINTi
O00623

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000482609

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi280 – 285Poly-Pro6

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0826 Eukaryota
ENOG410Y4Q2 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000016209

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000038427

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O00623

KEGG Orthology (KO)

More...
KOi
K13345

Identification of Orthologs from Complete Genome Data

More...
OMAi
TSGFVFC

Database of Orthologous Groups

More...
OrthoDBi
827472at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O00623

TreeFam database of animal gene trees

More...
TreeFami
TF314511

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR017375 PEX12
IPR006845 Pex_N
IPR013083 Znf_RING/FYVE/PHD

The PANTHER Classification System

More...
PANTHERi
PTHR12888 PTHR12888, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04757 Pex2_Pex12, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF038074 Peroxisome_assembly_p12, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i1AF0BE6416422109
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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
357Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7ELY8K7ELY8_HUMAN
Peroxisome assembly protein 12
PEX12
221Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11296.1

NCBI Reference Sequences

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RefSeqi
NP_000277.1, NM_000286.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000225873; ENSP00000225873; ENSG00000108733
ENST00000613219; ENSP00000482609; ENSG00000108733

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5193

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5193

UCSC genome browser

More...
UCSCi
uc002hjp.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi111216, 5 interactors
IntActiO00623, 38 interactors
MINTiO00623
STRINGi9606.ENSP00000482609

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
jPOSTiO00623
MassIVEiO00623
MaxQBiO00623
PaxDbiO00623
PeptideAtlasiO00623
PRIDEiO00623
ProteomicsDBi47996

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
5193

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
5193
DisGeNETi5193

GeneCards: human genes, protein and diseases

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GeneCardsi
PEX12
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

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0826 Eukaryota
ENOG410Y4Q2 LUCA
GeneTreeiENSGT00390000016209
HOGENOMiHOG000038427
InParanoidiO00623
KOiK13345
OMAiTSGFVFC
OrthoDBi827472at2759
PhylomeDBiO00623
TreeFamiTF314511

Enzyme and pathway databases

ReactomeiR-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-9033241 Peroxisomal protein import
R-HSA-9603798 Class I peroxisomal membrane protein import
SIGNORiO00623

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
PEX12 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PEX12

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
5193
PharosiO00623

Protein Ontology

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PROi
PR:O00623

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPEX12_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O00623
Secondary accession number(s): B2R6M2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 1, 1997
Last modified: October 16, 2019
This is version 165 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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