This gene is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation. This gene product interacts with peroxisomal membrane protein 19 and may respond to outside stimuli to increase peroxisome abundance. Alternatively spliced transcript variants encoding multiple isoforms have been observe... See more...

Aliases for PEX11A Gene

Aliases for PEX11A Gene

  • Peroxisomal Biogenesis Factor 11 Alpha 2 3 5
  • Peroxisomal Biogenesis Factor 11A 2 3 4
  • 28 KDa Peroxisomal Integral Membrane Protein 3 4
  • Peroxisomal Membrane Protein 11A 3 4
  • Protein PEX11 Homolog Alpha 3 4
  • PEX11-ALPHA 2 3
  • Peroxin-11A 3 4
  • HsPEX11p 3 4
  • PMP28 3 4
  • PEX11-Alpha 4
  • MGC119947 2
  • MGC138534 2
  • PEX11A 5
  • PEX11 4

External Ids for PEX11A Gene

Previous GeneCards Identifiers for PEX11A Gene

  • GC15M086630
  • GC15M083590
  • GC15M087812
  • GC15M087956
  • GC15M088027
  • GC15M090224
  • GC15M066339

Summaries for PEX11A Gene

Entrez Gene Summary for PEX11A Gene

  • This gene is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation. This gene product interacts with peroxisomal membrane protein 19 and may respond to outside stimuli to increase peroxisome abundance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

GeneCards Summary for PEX11A Gene

PEX11A (Peroxisomal Biogenesis Factor 11 Alpha) is a Protein Coding gene. Diseases associated with PEX11A include Peroxisomal Biogenesis Disorder and Rhizomelic Chondrodysplasia Punctata, Type 2. Among its related pathways are Metabolism and Peroxisome. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is PEX11B.

UniProtKB/Swiss-Prot Summary for PEX11A Gene

  • May be involved in peroxisomal proliferation and may regulate peroxisomes division (PubMed:9792670). May mediate binding of coatomer proteins to the peroxisomal membrane (By similarity). Promotes membrane protrusion and elongation on the peroxisomal surface (PubMed:20826455).

Gene Wiki entry for PEX11A Gene

Additional gene information for PEX11A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PEX11A Gene

Genomics for PEX11A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PEX11A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PEX11A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PEX11A

Top Transcription factor binding sites by QIAGEN in the PEX11A gene promoter:
  • C/EBPalpha
  • FOXF2
  • NF-kappaB1
  • Nkx6-1
  • Pax-4a
  • Pbx1a
  • PPAR-alpha
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for PEX11A Gene

Genomic Locations for PEX11A Gene
chr15:89,677,764-89,690,783
(GRCh38/hg38)
Size:
13,020 bases
Orientation:
Minus strand
chr15:90,220,995-90,234,014
(GRCh37/hg19)
Size:
13,020 bases
Orientation:
Minus strand

Genomic View for PEX11A Gene

Genes around PEX11A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX11A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX11A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX11A Gene

Proteins for PEX11A Gene

  • Protein details for PEX11A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75192-PX11A_HUMAN
    Recommended name:
    Peroxisomal membrane protein 11A
    Protein Accession:
    O75192
    Secondary Accessions:
    • B4DV88

    Protein attributes for PEX11A Gene

    Size:
    247 amino acids
    Molecular mass:
    28353 Da
    Quaternary structure:
    • Homodimer (PubMed:20826455). Heterodimer with PEX11G (PubMed:20826455). Probably interacts with COPB2 and COPA (By similarity). Interacts with PEX19 (PubMed:10704444). Interacts with FIS1 (PubMed:20826455).

    Alternative splice isoforms for PEX11A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEX11A Gene

Post-translational modifications for PEX11A Gene

Other Protein References for PEX11A Gene

Antibody Products

  • Abcam antibodies for PEX11A
  • Boster Bio Antibodies for PEX11A

No data available for DME Specific Peptides for PEX11A Gene

Domains & Families for PEX11A Gene

Gene Families for PEX11A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for PEX11A Gene

InterPro:
Blocks:
  • Peroxisomal biogenesis factor 11
ProtoNet:

Suggested Antigen Peptide Sequences for PEX11A Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ93834, Homo sapiens peroxisomal biogenesis factor 11A (PEX11A), mRNA (B2R8C6_HUMAN)
  • Protein PEX11 homolog alpha (PX11A_HUMAN)
  • PEX11A protein (Q29R61_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75192

UniProtKB/Swiss-Prot:

PX11A_HUMAN :
  • Belongs to the peroxin-11 family.
Family:
  • Belongs to the peroxin-11 family.
genes like me logo Genes that share domains with PEX11A: view

Function for PEX11A Gene

Molecular function for PEX11A Gene

UniProtKB/Swiss-Prot Function:
May be involved in peroxisomal proliferation and may regulate peroxisomes division (PubMed:9792670). May mediate binding of coatomer proteins to the peroxisomal membrane (By similarity). Promotes membrane protrusion and elongation on the peroxisomal surface (PubMed:20826455).

Phenotypes From GWAS Catalog for PEX11A Gene

Gene Ontology (GO) - Molecular Function for PEX11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20826455
GO:0042803 protein homodimerization activity IDA 20826455
genes like me logo Genes that share ontologies with PEX11A: view
genes like me logo Genes that share phenotypes with PEX11A: view

Animal Models for PEX11A Gene

MGI Knock Outs for PEX11A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX11A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PEX11A Gene

Localization for PEX11A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX11A Gene

Peroxisome membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PEX11A gene
Compartment Confidence
peroxisome 5
mitochondrion 3
nucleus 2
endoplasmic reticulum 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PEX11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IEA,IDA 9922452
GO:0005778 peroxisomal membrane IBA,TAS --
GO:0005779 integral component of peroxisomal membrane IDA 9714566
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PEX11A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PEX11A Gene

Pathways & Interactions for PEX11A Gene

genes like me logo Genes that share pathways with PEX11A: view

Gene Ontology (GO) - Biological Process for PEX11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007031 peroxisome organization IMP 9792670
GO:0007165 signal transduction IMP 9792670
GO:0016557 peroxisome membrane biogenesis IEA --
GO:0016559 peroxisome fission IBA,IDA 20826455
GO:0019216 regulation of lipid metabolic process TAS --
genes like me logo Genes that share ontologies with PEX11A: view

No data available for SIGNOR curated interactions for PEX11A Gene

Drugs & Compounds for PEX11A Gene

No Compound Related Data Available

Transcripts for PEX11A Gene

mRNA/cDNA for PEX11A Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX11A

Alternative Splicing Database (ASD) splice patterns (SP) for PEX11A Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4
SP1:
SP2: - -
SP3: -

Relevant External Links for PEX11A Gene

GeneLoc Exon Structure for
PEX11A

Expression for PEX11A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PEX11A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PEX11A Gene

This gene is overexpressed in Fetal Liver (30.5), Liver (22.5), and Gallbladder (16.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PEX11A Gene



Protein tissue co-expression partners for PEX11A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PEX11A

SOURCE GeneReport for Unigene cluster for PEX11A Gene:

Hs.31034

Evidence on tissue expression from TISSUES for PEX11A Gene

  • Liver(4.5)
  • Intestine(4.4)
  • Lung(4.3)
  • Nervous system(2.3)
  • Kidney(2.3)
  • Skin(2)
genes like me logo Genes that share expression patterns with PEX11A: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX11A Gene

Orthologs for PEX11A Gene

This gene was present in the common ancestor of animals.

Orthologs for PEX11A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PEX11A 30 31
  • 99.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PEX11A 30 31
  • 90.2 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PEX11A 31
  • 85 (a)
OneToMany
-- 31
  • 83 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Pex11a 30 17 31
  • 82.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pex11a 30
  • 82.25 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia PEX11A 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PEX11A 30 31
  • 64.47 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PEX11A 31
  • 53 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pex11a 30
  • 60.06 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.33925 30
Zebrafish
(Danio rerio)
Actinopterygii pex11a 30 31
  • 55.24 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Pex11 31
  • 31 (a)
OneToMany
Species where no ortholog for PEX11A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PEX11A Gene

ENSEMBL:
Gene Tree for PEX11A (if available)
TreeFam:
Gene Tree for PEX11A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PEX11A: view image

Paralogs for PEX11A Gene

Paralogs for PEX11A Gene

(1) SIMAP similar genes for PEX11A Gene using alignment to 6 proteins:

  • PX11A_HUMAN
  • B2R8C6_HUMAN
  • B4DV88_HUMAN
  • H0YMC7_HUMAN
  • H0YN61_HUMAN
  • Q29R61_HUMAN
genes like me logo Genes that share paralogs with PEX11A: view

Variants for PEX11A Gene

Additional dbSNP identifiers (rs#s) for PEX11A Gene

Structural Variations from Database of Genomic Variants (DGV) for PEX11A Gene

Variant ID Type Subtype PubMed ID
esv3637201 CNV loss 21293372
nsv1046117 CNV gain 25217958
nsv1055055 CNV loss 25217958
nsv1160317 CNV duplication 26073780
nsv1660 CNV insertion 18451855
nsv570387 CNV loss 21841781
nsv977756 CNV duplication 23825009

Variation tolerance for PEX11A Gene

Residual Variation Intolerance Score: 37.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.78; 16.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PEX11A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEX11A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PEX11A Gene

Disorders for PEX11A Gene

MalaCards: The human disease database

(8) MalaCards diseases for PEX11A Gene - From: DISEASES

Disorder Aliases PubMed IDs
peroxisomal biogenesis disorder
  • peroxisomal biogenesis disorders
rhizomelic chondrodysplasia punctata, type 2
  • rcdp2
acatalasemia
  • acatalasia
peroxisomal disease
  • peroxisomal disorder
peroxisome biogenesis disorder 1b
  • pbd1b
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PEX11A

genes like me logo Genes that share disorders with PEX11A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PEX11A Gene

Publications for PEX11A Gene

  1. Expression of PEX11beta mediates peroxisome proliferation in the absence of extracellular stimuli. (PMID: 9792670) Schrader M … Gould SJ (The Journal of biological chemistry 1998) 2 3 4
  2. Clofibrate-inducible, 28-kDa peroxisomal integral membrane protein is encoded by PEX11. (PMID: 9714566) Abe I … Fujiki Y (FEBS letters 1998) 3 4 23
  3. PEX11 family members are membrane elongation factors that coordinate peroxisome proliferation and maintenance. (PMID: 20826455) Koch J … Brocard C (Journal of cell science 2010) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for PEX11A Gene

Sources for PEX11A Gene