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Aliases for PEX13 Gene

Aliases for PEX13 Gene

  • Peroxisomal Biogenesis Factor 13 2 3 5
  • Peroxisome Biogenesis Factor 13 2 3
  • Peroxin-13 3 4
  • Peroxisomal Membrane Protein PEX13 3
  • PBD11A 3
  • PBD11B 3
  • NALD 3
  • ZWS 3

External Ids for PEX13 Gene

Previous GeneCards Identifiers for PEX13 Gene

  • GC02P061373
  • GC02P061202
  • GC02P061219
  • GC02P061156
  • GC02P061098
  • GC02P061244
  • GC02P060985

Summaries for PEX13 Gene

Entrez Gene Summary for PEX13 Gene

  • This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]

GeneCards Summary for PEX13 Gene

PEX13 (Peroxisomal Biogenesis Factor 13) is a Protein Coding gene. Diseases associated with PEX13 include Peroxisome Biogenesis Disorder 11B and Peroxisome Biogenesis Disorder 11A. Among its related pathways are Peroxisome.

UniProtKB/Swiss-Prot for PEX13 Gene

  • Component of the peroxisomal translocation machinery with PEX14 and PEX17. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PAS10/PEX5). Involved in the import of PTS1 and PTS2 proteins.

Gene Wiki entry for PEX13 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX13 Gene

Genomics for PEX13 Gene

Regulatory Elements for PEX13 Gene

Enhancers for PEX13 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G061534 1.8 FANTOM5 ENCODE dbSUPER 9.8 +520.2 520166 5.2 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 LOC339803 AHSA2 ENSG00000236498 ENSG00000232713 REL PAPOLG PEX13 ENSG00000273302 KIAA1841 USP34
GH02G061016 1.4 ENCODE dbSUPER 10.5 +0.7 674 4.4 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC PUS10 ENSG00000236498 PAPOLG PEX13 ENSG00000232713 AHSA2
GH02G061853 1.1 ENCODE 9.8 +837.3 837270 2.5 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 FOS FAM161A PEX13 PIR42567
GH02G061065 1 ENCODE 5.4 +48.9 48917 1.8 ATF1 ARID4B SIN3A DMAP1 GLIS2 FOS KLF13 ZNF263 SP3 MXD4 AHSA2 PEX13 KIAA1841 ENSG00000274769
GH02G060892 0.4 dbSUPER 11.7 -123.7 -123709 1.2 PKNOX1 ZBTB33 PUS10 PEX13 PAPOLG KIAA1841 GC02P060883 GC02P060912
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PEX13 on UCSC Golden Path with GeneCards custom track

Promoters for PEX13 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000117638 475 3001 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC

Genomic Location for PEX13 Gene

Chromosome:
2
Start:
61,017,225 bp from pter
End:
61,051,990 bp from pter
Size:
34,766 bases
Orientation:
Plus strand

Genomic View for PEX13 Gene

Genes around PEX13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX13 Gene

Proteins for PEX13 Gene

  • Protein details for PEX13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92968-PEX13_HUMAN
    Recommended name:
    Peroxisomal membrane protein PEX13
    Protein Accession:
    Q92968
    Secondary Accessions:
    • B2RCS1

    Protein attributes for PEX13 Gene

    Size:
    403 amino acids
    Molecular mass:
    44130 Da
    Quaternary structure:
    • Interacts with PEX19.

neXtProt entry for PEX13 Gene

Post-translational modifications for PEX13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PEX13 Gene

Antibody Products

  • Abcam antibodies for PEX13

No data available for DME Specific Peptides for PEX13 Gene

Domains & Families for PEX13 Gene

Gene Families for PEX13 Gene

Protein Domains for PEX13 Gene

Suggested Antigen Peptide Sequences for PEX13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92968

UniProtKB/Swiss-Prot:

PEX13_HUMAN :
  • Belongs to the peroxin-13 family.
Family:
  • Belongs to the peroxin-13 family.
genes like me logo Genes that share domains with PEX13: view

Function for PEX13 Gene

Molecular function for PEX13 Gene

GENATLAS Biochemistry:
peroxin 13,peroxisome biogenesis factor 13 complementation group H (Japan),encoding the docking factor for the PTS1 receptor (PEX5),also required for PTS2 import
UniProtKB/Swiss-Prot Function:
Component of the peroxisomal translocation machinery with PEX14 and PEX17. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PAS10/PEX5). Involved in the import of PTS1 and PTS2 proteins.

Gene Ontology (GO) - Molecular Function for PEX13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 8858165
genes like me logo Genes that share ontologies with PEX13: view
genes like me logo Genes that share phenotypes with PEX13: view

Human Phenotype Ontology for PEX13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PEX13 Gene

MGI Knock Outs for PEX13:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PEX13 Gene

Localization for PEX13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX13 Gene

Peroxisome membrane; Single-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 PEX13 gene
Compartment Confidence
peroxisome 5
plasma membrane 2
endoplasmic reticulum 2
cytosol 2
mitochondrion 1
nucleus 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PEX13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IDA 11829486
GO:0005778 peroxisomal membrane IEA,IDA 11402059
GO:0005779 integral component of peroxisomal membrane IDA 8858165
GO:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PEX13: view

Pathways & Interactions for PEX13 Gene

SuperPathways for PEX13 Gene

SuperPathway Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX13: view

Pathways by source for PEX13 Gene

1 KEGG pathway for PEX13 Gene

Gene Ontology (GO) - Biological Process for PEX13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001561 fatty acid alpha-oxidation ISS --
GO:0001764 neuron migration ISS,IEA --
GO:0001967 suckling behavior ISS,IEA --
GO:0006810 transport IEA --
GO:0007626 locomotory behavior ISS,IEA --
genes like me logo Genes that share ontologies with PEX13: view

No data available for SIGNOR curated interactions for PEX13 Gene

Transcripts for PEX13 Gene

Unigene Clusters for PEX13 Gene

Peroxisomal biogenesis factor 13:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PEX13 Gene

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

Relevant External Links for PEX13 Gene

GeneLoc Exon Structure for
PEX13
ECgene alternative splicing isoforms for
PEX13

Expression for PEX13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PEX13 Gene

Protein differential expression in normal tissues from HIPED for PEX13 Gene

This gene is overexpressed in Bone (28.5), Testis (16.5), and Liver (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PEX13 Gene



Protein tissue co-expression partners for PEX13 Gene

NURSA nuclear receptor signaling pathways regulating expression of PEX13 Gene:

PEX13

SOURCE GeneReport for Unigene cluster for PEX13 Gene:

Hs.161377

Evidence on tissue expression from TISSUES for PEX13 Gene

  • Liver(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX13 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • scalp
  • skull
  • tongue
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PEX13: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PEX13 Gene

Orthologs for PEX13 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PEX13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX13 34 35
  • 99.83 (n)
dog
(Canis familiaris)
Mammalia PEX13 34 35
  • 93.37 (n)
cow
(Bos Taurus)
Mammalia PEX13 34 35
  • 92.72 (n)
mouse
(Mus musculus)
Mammalia Pex13 34 16 35
  • 89.41 (n)
oppossum
(Monodelphis domestica)
Mammalia PEX13 35
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pex13 34
  • 86.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PEX13 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves PEX13 34 35
  • 76.08 (n)
lizard
(Anolis carolinensis)
Reptilia PEX13 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex13 34
  • 70.35 (n)
zebrafish
(Danio rerio)
Actinopterygii pex13 34 35
  • 63.5 (n)
zgc66124 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010074 34
  • 46.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pex13 34 35
  • 44.01 (n)
worm
(Caenorhabditis elegans)
Secernentea prx-13 34 35
  • 50.77 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX13 35 37
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToOne
Species where no ortholog for PEX13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 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)

Evolution for PEX13 Gene

ENSEMBL:
Gene Tree for PEX13 (if available)
TreeFam:
Gene Tree for PEX13 (if available)

Paralogs for PEX13 Gene

No data available for Paralogs for PEX13 Gene

Variants for PEX13 Gene

Sequence variations from dbSNP and Humsavar for PEX13 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs61752115 Pathogenic, Peroxisome biogenesis disorder 11B (PBD11B) [MIM:614885] 61,048,535(+) ACTTA(C/T)ACCTG reference, missense
rs104893661 Pathogenic 61,032,028(+) TCTTG(A/G)CCAAT reference, stop-gained
rs61752113 Pathogenic 61,048,495(+) GTGGT(G/T)GGCTT reference, missense
rs143032208 Likely benign 61,049,545(+) GAGGC(A/G)GGCAG utr-variant-3-prime
rs151304822 Likely benign 61,048,602(+) AAAGT(C/T)TCCAA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for PEX13 Gene

Variant ID Type Subtype PubMed ID
nsv478754 CNV novel sequence insertion 20440878

Variation tolerance for PEX13 Gene

Residual Variation Intolerance Score: 83.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.57; 44.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PEX13 Gene

Human Gene Mutation Database (HGMD)
PEX13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEX13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX13 Gene

Disorders for PEX13 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PEX13 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 11b
  • pbd11b
peroxisome biogenesis disorder 11a
  • pbd11a
neonatal adrenoleukodystrophy
  • adrenoleukodystrophy autosomal neonatal form
peroxisome biogenesis disorder 1b
  • infantile refsum disease
peroxisome biogenesis disorders, zellweger syndrome spectrum
  • zellweger syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PEX13 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PEX13_HUMAN
  • Peroxisome biogenesis disorder 11A (PBD11A) [MIM:614883]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269 PubMed:10332040, ECO:0000269 PubMed:19449432}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 11B (PBD11B) [MIM:614885]: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. {ECO:0000269 PubMed:10332040, ECO:0000269 PubMed:10441568}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder complementation group 13 (PBD-CG13) [MIM:614883]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). {ECO:0000269 PubMed:10332040, ECO:0000269 PubMed:19449432}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PEX13

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PEX13
genes like me logo Genes that share disorders with PEX13: view

No data available for Genatlas for PEX13 Gene

Publications for PEX13 Gene

  1. Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. (PMID: 19449432) Al-Dirbashi O.Y. … Alkuraya F.S. (Am. J. Med. Genet. A 2009) 3 4 22 64
  2. PEX13 is mutated in complementation group 13 of the peroxisome- biogenesis disorders. (PMID: 10441568) Liu Y. … Gould S.J. (Am. J. Hum. Genet. 1999) 3 4 22 64
  3. Genomic structure of PEX13, a candidate peroxisome biogenesis disorder gene. (PMID: 9878256) BjAPrkman J. … Crane D.I. (Genomics 1998) 2 3 22 64
  4. Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder. (PMID: 16006427) Hashimoto K. … Kondo N. (Pediatr. Res. 2005) 3 22 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for PEX13 Gene

Sources for PEX13 Gene

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