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Aliases for PEX10 Gene

Aliases for PEX10 Gene

  • Peroxisomal Biogenesis Factor 10 2 3 4 5
  • Peroxisome Biogenesis Factor 10 2 3
  • Peroxisome Assembly Protein 10 3 4
  • RING Finger Protein 69 3 4
  • RNF69 3 4
  • Peroxin 10 3
  • Peroxin-10 4
  • PBD6A 3
  • PBD6B 3
  • NALD 3

External Ids for PEX10 Gene

Previous GeneCards Identifiers for PEX10 Gene

  • GC01M001891
  • GC01M002348
  • GC01M001996
  • GC01M002205
  • GC01M002368
  • GC01M001614

Summaries for PEX10 Gene

Entrez Gene Summary for PEX10 Gene

  • This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for PEX10 Gene

PEX10 (Peroxisomal Biogenesis Factor 10) is a Protein Coding gene. Diseases associated with PEX10 include Peroxisome Biogenesis Disorder 6B and Peroxisome Biogenesis Disorder 6A. Among its related pathways are Peroxisome. GO annotations related to this gene include protein C-terminus binding.

UniProtKB/Swiss-Prot for PEX10 Gene

  • Somewhat implicated in the biogenesis of peroxisomes.

Gene Wiki entry for PEX10 Gene

Additional gene information for PEX10 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX10 Gene

Genomics for PEX10 Gene

Regulatory Elements for PEX10 Gene

Enhancers for PEX10 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
GH01H002191 1.6 Ensembl ENCODE dbSUPER 11.8 +219.6 219639 4.8 HDGF FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ZNF766 SKI MORN1 RER1 PEX10 PRKCZ-AS1 FAAP20 ENSG00000271806 LOC105378593
GH01H002197 1.5 Ensembl ENCODE dbSUPER 11.3 +215.0 214959 2.8 HDGF PKNOX1 ATF1 ARNT ARID4B ZNF121 GLIS2 ZNF143 ZNF548 ATF7 CCNL2 LOC100288379 CDK11A SKI RER1 MORN1 SDF4 PEX10 INTS11 ENSG00000240731
GH01H002389 1.3 ENCODE dbSUPER 9.5 +20.7 20673 6.5 PKNOX1 ARID4B SIN3A YY1 ZNF143 ZNF207 FOS SP3 SP5 ZHX2 SLC35E2 LOC100129381 ATAD3B MORN1 LOC100129534 ENSG00000272455 PEX10 ENSG00000226286 GC01M002393
GH01H002403 0.9 ENCODE dbSUPER 10.5 +7.9 7948 4.1 CTCF KLF1 GATA3 GLIS2 POLR2A MYNN GLIS1 SCRT2 PATZ1 CREB1 PEX10 RER1 PIR43593
GH01H002411 1.6 Ensembl ENCODE dbSUPER 5.5 -0.6 -635 5.8 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF207 DEK SP3 MORN1 SLC35E2 LOC100129381 ATAD3B PLCH2 LOC100129534 FAAP20 MIB2 SLC35E2B PEX10
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PEX10 on UCSC Golden Path with GeneCards custom track

Promoters for PEX10 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000000339 997 1601 ATF1 ARID4B SIN3A DMAP1 BRCA1 ZNF2 ETS1 GLIS2 ELK1 ZNF143

Genomic Locations for PEX10 Gene

Genomic Locations for PEX10 Gene
chr1:2,403,964-2,413,797
(GRCh38/hg38)
Size:
9,834 bases
Orientation:
Minus strand
chr1:2,336,236-2,345,236
(GRCh37/hg19)

Genomic View for PEX10 Gene

Genes around PEX10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX10 Gene

Proteins for PEX10 Gene

  • Protein details for PEX10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60683-PEX10_HUMAN
    Recommended name:
    Peroxisome biogenesis factor 10
    Protein Accession:
    O60683
    Secondary Accessions:
    • B3KWD8
    • Q5T095
    • Q9BW90

    Protein attributes for PEX10 Gene

    Size:
    326 amino acids
    Molecular mass:
    37069 Da
    Quaternary structure:
    • Interacts with PEX19.

    Alternative splice isoforms for PEX10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEX10 Gene

Post-translational modifications for PEX10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PEX10 Gene

Domains & Families for PEX10 Gene

Gene Families for PEX10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for PEX10 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60683

UniProtKB/Swiss-Prot:

PEX10_HUMAN :
  • Belongs to the pex2/pex10/pex12 family.
Family:
  • Belongs to the pex2/pex10/pex12 family.
genes like me logo Genes that share domains with PEX10: view

Function for PEX10 Gene

Molecular function for PEX10 Gene

GENATLAS Biochemistry:
peroxin 10,peroxisome assembly protein 10,complementation group 7 (KKI)
UniProtKB/Swiss-Prot Function:
Somewhat implicated in the biogenesis of peroxisomes.

Gene Ontology (GO) - Molecular Function for PEX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10837480
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PEX10: view
genes like me logo Genes that share phenotypes with PEX10: view

Human Phenotype Ontology for PEX10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for PEX10 Gene

Localization for PEX10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX10 Gene

Peroxisome membrane; Peripheral 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 PEX10 gene
Compartment Confidence
peroxisome 5
nucleus 4
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PEX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IDA 9922452
GO:0005778 peroxisomal membrane IBA,TAS --
GO:0005779 integral component of peroxisomal membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PEX10: view

Pathways & Interactions for PEX10 Gene

SuperPathways for PEX10 Gene

SuperPathway Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX10: view

Pathways by source for PEX10 Gene

1 KEGG pathway for PEX10 Gene

Gene Ontology (GO) - Biological Process for PEX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007031 peroxisome organization IDA,IEA 9700193
GO:0016558 protein import into peroxisome matrix IEA,IDA 9683594
GO:0016567 protein ubiquitination TAS --
genes like me logo Genes that share ontologies with PEX10: view

No data available for SIGNOR curated interactions for PEX10 Gene

Drugs & Compounds for PEX10 Gene

No Compound Related Data Available

Transcripts for PEX10 Gene

Unigene Clusters for PEX10 Gene

Peroxisomal biogenesis factor 10:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PEX10 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d · 8e ^ 9 ^ 10a · 10b
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - -
SP6: - - - -
SP7: - - - - - - - - - -
SP8: -
SP9: - -
SP10:
SP11:

Relevant External Links for PEX10 Gene

GeneLoc Exon Structure for
PEX10
ECgene alternative splicing isoforms for
PEX10

Expression for PEX10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PEX10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PEX10 Gene

This gene is overexpressed in Adrenal (29.1), Retina (14.6), Fetal testis (10.9), and Blymphocyte (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PEX10 Gene



Protein tissue co-expression partners for PEX10 Gene

NURSA nuclear receptor signaling pathways regulating expression of PEX10 Gene:

PEX10

SOURCE GeneReport for Unigene cluster for PEX10 Gene:

Hs.732228

Evidence on tissue expression from TISSUES for PEX10 Gene

  • Nervous system(4.7)
  • Lung(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX10 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 PEX10: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PEX10 Gene

Orthologs for PEX10 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PEX10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX10 33 34
  • 98.75 (n)
rat
(Rattus norvegicus)
Mammalia Pex10 33
  • 81.94 (n)
mouse
(Mus musculus)
Mammalia Pex10 33 16 34
  • 80.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PEX10 34
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PEX10 34
  • 68 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PEX10 34
  • 67 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PEX10 34
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves PEX10 33 34
  • 62.99 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia pex10 33
  • 60.47 (n)
zebrafish
(Danio rerio)
Actinopterygii pex10 33 34
  • 58.31 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pex10 33 34
  • 46.74 (n)
CG7864 35
  • 30 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000928 33
  • 46.28 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER390W 33
  • 43.76 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E16677g 33
  • 38.83 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX10 33 34 36
  • 38 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PEX10 33
  • 41.34 (n)
rice
(Oryza sativa)
Liliopsida Os07g0608800 33
  • 40.52 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03277 33
  • 47.8 (n)
Species where no ortholog for PEX10 was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PEX10 Gene

ENSEMBL:
Gene Tree for PEX10 (if available)
TreeFam:
Gene Tree for PEX10 (if available)

Paralogs for PEX10 Gene

(1) SIMAP similar genes for PEX10 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with PEX10: view

No data available for Paralogs for PEX10 Gene

Variants for PEX10 Gene

Sequence variations from dbSNP and Humsavar for PEX10 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs61752095 Pathogenic, Peroxisome biogenesis disorder 6B (PBD6B) [MIM:614871] 2,406,526(-) GGCCA(C/G)CTGTT nc-transcript-variant, downstream-variant-500B, reference, missense
rs267608183 Pathogenic 2,408,451(-) CGTAC(A/G)TAAGT intron-variant, splice-donor-variant
rs61750434 Pathogenic 2,408,679(-) GTGGG(C/T)GACCC nc-transcript-variant, reference, stop-gained
rs61750435 Pathogenic 2,406,791(-) CTGCA(-/A)GCTGT nc-transcript-variant, downstream-variant-500B, reference, frameshift-variant
rs61752092 Pathogenic 2,406,766(-) GGCAG(C/G/T)GAGCC nc-transcript-variant, downstream-variant-500B, reference, missense, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for PEX10 Gene

Variant ID Type Subtype PubMed ID
nsv951557 CNV deletion 24416366
nsv823697 CNV gain 20364138
nsv545072 CNV loss 21841781
nsv470684 CNV loss 18288195
dgv50n54 CNV loss 21841781
dgv1n27 CNV loss 19166990

Variation tolerance for PEX10 Gene

Residual Variation Intolerance Score: 86.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.62; 45.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PEX10 Gene

Human Gene Mutation Database (HGMD)
PEX10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEX10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX10 Gene

Disorders for PEX10 Gene

MalaCards: The human disease database

(10) MalaCards diseases for PEX10 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 6b
  • pbd6b
peroxisome biogenesis disorder 6a
  • pbd6a
autosomal recessive ataxia due to pex10 deficiency
  • mild peroxismal disorder due to pex10 deficiency
zellweger syndrome
  • cerebrohepatorenal syndrome
peroxisome biogenesis disorder 1a
  • zellweger syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PEX10 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PEX10_HUMAN
  • Peroxisome biogenesis disorder 6A (PBD6A) [MIM:614870]: 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:9700193}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 6B (PBD6B) [MIM:614871]: 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:9683594}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder complementation group 7 (PBD-CG7) [MIM:614870]: 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:19105186}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PEX10

Genetic Association Database (GAD)
PEX10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PEX10
genes like me logo Genes that share disorders with PEX10: view

No data available for Genatlas for PEX10 Gene

Publications for PEX10 Gene

  1. Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. (PMID: 9683594) Warren DS … Gould SJ (American journal of human genetics 1998) 2 3 4 22 60
  2. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. (PMID: 19105186) Yik WY … Hacia JG (Human mutation 2009) 3 4 22 60
  3. Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B. (PMID: 9700193) Okumoto K … Fujiki Y (Human molecular genetics 1998) 3 4 22 60
  4. A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. (PMID: 22197933) Hu Z … Sha J (Nature genetics 2011) 3 45 60
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60

Products for PEX10 Gene

Sources for PEX10 Gene

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