Cell atlas - PEX12 - The Human Protein Atlas

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PEX12

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TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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GENERAL INFORMATION
Gene name	PEX12
Gene description	Peroxisomal biogenesis factor 12
Protein class	Disease related genes Potential drug targets Predicted intracellular proteins Predicted membrane proteins Transporters
Predicted localization	Intracellular,Membrane
Number of transcripts	3
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Mixed
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Mixed Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

GENE INFORMATION
Gene name	PEX12
Synonyms
Description	Peroxisomal biogenesis factor 12 (HGNC Symbol)
Entrez gene 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]
Chromosome	17
Cytoband	q12
Chromosome location (bp)	35574795 - 35578863
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000108733 (version 83.38)
Entrez gene	5193
UniProt	O00623 (UniProt - Evidence at protein level)
neXtProt	NX_O00623
Antibodypedia	PEX12 antibodies

PROTEIN BROWSER

PEX12-001	PEX12-003	PEX12-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PEX12-001 ENSP00000225873 ENST00000225873	O00623 [Direct mapping] Peroxisome assembly protein 12 Show all	Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005777 [peroxisome] GO:0005778 [peroxisomal membrane] GO:0005779 [integral component of peroxisomal membrane] GO:0006513 [protein monoubiquitination] GO:0006625 [protein targeting to peroxisome] GO:0007031 [peroxisome organization] GO:0008022 [protein C-terminus binding] GO:0008270 [zinc ion binding] GO:0016558 [protein import into peroxisome matrix] GO:1990429 [peroxisomal importomer complex] Show all	359 aa 40.8 kDa	No	2
PEX12-003 ENSP00000466280 ENST00000585380	K7ELY8 [Direct mapping] Peroxisome assembly protein 12 Show all	MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005779 [integral component of peroxisomal membrane] GO:0006625 [protein targeting to peroxisome] GO:0008022 [protein C-terminus binding] GO:0008270 [zinc ion binding] Show all	221 aa 25.4 kDa	No	0
PEX12-201 ENSP00000482609 ENST00000613219	O00623 [Direct mapping] Peroxisome assembly protein 12 Show all	Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005777 [peroxisome] GO:0005778 [peroxisomal membrane] GO:0005779 [integral component of peroxisomal membrane] GO:0006513 [protein monoubiquitination] GO:0006625 [protein targeting to peroxisome] GO:0007031 [peroxisome organization] GO:0008022 [protein C-terminus binding] GO:0008270 [zinc ion binding] GO:0016558 [protein import into peroxisome matrix] GO:1990429 [peroxisomal importomer complex] Show all	359 aa 40.8 kDa	No	2

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.