Format

Send to:

Choose Destination

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

Gene ID: 5193, updated on 7-Jun-2020

Summary

Official Symbol
PEX12provided by HGNC
Official Full Name
peroxisomal biogenesis factor 12provided by HGNC
Primary source
HGNC:HGNC:8854
See related
Ensembl:ENSG00000108733 MIM:601758
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]
Expression
Ubiquitous expression in brain (RPKM 5.6), testis (RPKM 5.4) and 25 other tissues See more
Orthologs

Genomic context

See PEX12 in Genome Data Viewer
Location:
17q12
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (35574795..35578571, 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 host gene 30 Neighboring gene small nucleolar RNA, C/D box 7 Neighboring gene transmembrane protein 160 pseudogene Neighboring gene adaptor related protein complex 2 subunit beta 1 Neighboring gene ribosomal protein L17 pseudogene 42

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
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 monoubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein targeting to peroxisome NAS
Non-traceable Author Statement
more info
PubMed 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
protein ubiquitination TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 importomer complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisomal membrane HDA PubMed 
peroxisomal membrane TAS
Traceable Author Statement
more info
 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
peroxisome assembly protein 12
Names
peroxin 12
peroxisome assembly factor 3

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

    Range
    5067..8843
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000286.3NP_000277.1  peroxisome assembly protein 12

    See identical proteins and their annotated locations for NP_000277.1

    Status: REVIEWED

    Source sequence(s)
    AI341587, BC031085, DA298874, U91521
    Consensus CDS
    CCDS11296.1
    UniProtKB/Swiss-Prot
    O00623
    Related
    ENSP00000225873.3, ENST00000225873.9
    Conserved Domains (2) summary
    smart00184
    Location:304341
    RING; Ring finger
    pfam04757
    Location:26267
    Pex2_Pex12; Pex2 / Pex12 amino terminal region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    35574795..35578571 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center