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PEX12 peroxisomal biogenesis factor 12 [ Homo sapiens (human) ]

Gene ID: 5193, updated on 23-Oct-2014
Official Symbol
PEX12provided by HGNC
Official Full Name
peroxisomal biogenesis factor 12provided by HGNC
Primary source
HGNC:HGNC:8854
See related
Ensembl:ENSG00000108733; HPRD:03455; MIM:601758; Vega:OTTHUMG00000132951
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAF-3; PBD3A
Summary
This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
See PEX12 in Epigenomics, MapViewer
Location:
17q12
Exon count:
3
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (35574795..35578637, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (33901814..33905656, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L39 pseudogene 32 Neighboring gene small nucleolar RNA, C/D box 7 Neighboring gene transmembrane protein 160 pseudogene Neighboring gene adaptor-related protein complex 2, beta 1 subunit Neighboring gene ribosomal protein L17 pseudogene 42

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Peroxisome, organism-specific biosystem (from KEGG)
    Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
  • Peroxisome, conserved biosystem (from KEGG)
    Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
peroxisome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein import into peroxisome matrix IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein import into peroxisome matrix NAS
Non-traceable Author Statement
more info
PubMed 
protein targeting to peroxisome NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of peroxisomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of peroxisomal membrane TAS
Traceable Author Statement
more info
PubMed 
peroxisomal membrane IDA
Inferred from Direct Assay
more info
 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
peroxisome assembly protein 12
Names
peroxisome assembly protein 12
peroxin 12
peroxin-12
peroxisome assembly factor 3

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008447.1 

    Range
    5001..8843
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000286.2NP_000277.1  peroxisome assembly protein 12

    See proteins identical to NP_000277.1

    Status: REVIEWED

    Source sequence(s)
    AI341587, BC031085, DA298874, U91521
    Consensus CDS
    CCDS11296.1
    UniProtKB/Swiss-Prot
    O00623
    Related
    ENSP00000482609, ENST00000613219
    Conserved Domains (2) summary
    pfam04757
    Location:26266
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
    pfam13923
    Location:304341
    zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    Range
    35574795..35578637
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    30086798..30090636
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

    Range
    33966472..33970314
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)