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

Gene ID: 5193, updated on 5-Jan-2023

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; AllianceGenome:HGNC:8854
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
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Genomic context

See PEX12 in Genome Data Viewer
Location:
17q12
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (35574795..35578571, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (36522734..36526512, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (33901814..33905590, 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
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin ligase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables zinc ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
part_of peroxisomal importomer complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in peroxisomal membrane HDA PubMed 
is_active_in peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in peroxisomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in peroxisomal membrane TAS
Traceable Author Statement
more info
PubMed 
located_in 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)

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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
    B2R6M2, 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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    36522734..36526512 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)