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Aliases for PEX5L Gene

Aliases for PEX5L Gene

  • Peroxisomal Biogenesis Factor 5 Like 2 3 5
  • Tetratricopeptide Repeat-Containing Rab8b-Interacting Protein 3 4
  • Peroxisome Biogenesis Factor 5-Like 3 4
  • HCN Channel Auxiliary Subunit 2 3
  • Peroxin-5-Related Protein 3 4
  • PEX2-Related Protein 3 4
  • PEX5-Like Protein 3 4
  • PEX5RP 3 4
  • TRIP8b 3 4
  • PEX5R 3 4
  • PXR2 3 4
  • Pex5p-Related Protein 3
  • PEX5-Related Protein 3
  • PXR2B 3

External Ids for PEX5L Gene

Previous GeneCards Identifiers for PEX5L Gene

  • GC03M181000
  • GC03M179512
  • GC03M176922

Summaries for PEX5L Gene

GeneCards Summary for PEX5L Gene

PEX5L (Peroxisomal Biogenesis Factor 5 Like) is a Protein Coding gene. Diseases associated with PEX5L include Rhizomelic Chondrodysplasia Punctata, Type 5 and Rhizomelic Chondrodysplasia Punctata, Type 2. Among its related pathways are Peroxisome. GO annotations related to this gene include small GTPase binding and peroxisome matrix targeting signal-1 binding. An important paralog of this gene is PEX5.

UniProtKB/Swiss-Prot for PEX5L Gene

  • Accessory subunit of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels, regulating their cell-surface expression and cyclic nucleotide dependence.

Additional gene information for PEX5L Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX5L Gene

Genomics for PEX5L Gene

Regulatory Elements for PEX5L Gene

Enhancers for PEX5L 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
GH03H179955 1.3 Ensembl ENCODE dbSUPER 9.8 +80.1 80125 2 TBL1XR1 BACH1 BMI1 EBF1 RELA POLR2A EED ATF7 NFE2 ETV6 PEX5L-AS1 PEX5L GC03M180001 PEX5L-AS2
GH03H179961 0.9 Ensembl dbSUPER 9.8 +75.6 75553 0 TRIM22 DPF2 ZNF217 IKZF1 TARDBP NBN MLLT1 ATF7 IKZF2 PEX5L-AS1 PEX5L GC03M180001 PEX5L-AS2
GH03H179959 0.5 dbSUPER 14.1 +76.6 76649 1 IKZF1 ATF7 ETV6 IKZF2 PEX5L PEX5L-AS1 GC03M180001 PEX5L-AS2
GH03H179947 0.4 dbSUPER 14.7 +87.2 87176 4 POLR2A POU5F1 PEX5L PEX5L-AS2 GC03M180001
GH03H179972 0.5 dbSUPER 10.3 +57.8 57848 14 ZFHX2 NR2F1 IKZF1 ATF2 EGR2 PEX5L PEX5L-AS1 GC03M180001 PEX5L-AS2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PEX5L on UCSC Golden Path with GeneCards custom track

Promoters for PEX5L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000162609 53 801 MXI1 SIN3A ZIC2 HIC1 CTBP1 GATA3 POLR2A RUNX3 SMARCE1 TFE3

Genomic Location for PEX5L Gene

Chromosome:
3
Start:
179,794,958 bp from pter
End:
180,037,053 bp from pter
Size:
242,096 bases
Orientation:
Minus strand

Genomic View for PEX5L Gene

Genes around PEX5L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX5L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX5L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX5L Gene

Proteins for PEX5L Gene

  • Protein details for PEX5L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYB4-PEX5R_HUMAN
    Recommended name:
    PEX5-related protein
    Protein Accession:
    Q8IYB4
    Secondary Accessions:
    • B7Z2A5
    • B7Z305
    • B7Z318
    • B7Z5Z5
    • B7Z8P2
    • E7EUV8
    • E7EUZ0
    • E9PEC1
    • E9PH97
    • Q9NQD1
    • Q9P2U3
    • Q9P2U4

    Protein attributes for PEX5L Gene

    Size:
    626 amino acids
    Molecular mass:
    69697 Da
    Quaternary structure:
    • Interacts with RAB8B. Forms an obligate 4:4 complex with HCN2 (By similarity). May interact with the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type); the relevance of such interaction is however unclear.
    SequenceCaution:
    • Sequence=CAC01120.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PEX5L Gene

neXtProt entry for PEX5L Gene

Post-translational modifications for PEX5L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PEX5L Gene

Domains & Families for PEX5L Gene

Gene Families for PEX5L Gene

Protein Domains for PEX5L Gene

Graphical View of Domain Structure for InterPro Entry

Q8IYB4

UniProtKB/Swiss-Prot:

PEX5R_HUMAN :
  • Belongs to the peroxisomal targeting signal receptor family.
Family:
  • Belongs to the peroxisomal targeting signal receptor family.
genes like me logo Genes that share domains with PEX5L: view

Function for PEX5L Gene

Molecular function for PEX5L Gene

UniProtKB/Swiss-Prot Function:
Accessory subunit of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels, regulating their cell-surface expression and cyclic nucleotide dependence.

Phenotypes From GWAS Catalog for PEX5L Gene

Gene Ontology (GO) - Molecular Function for PEX5L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000268 peroxisome targeting sequence binding IDA 18346465
GO:0005052 peroxisome matrix targeting signal-1 binding IBA --
GO:0031267 small GTPase binding IPI 18346465
genes like me logo Genes that share ontologies with PEX5L: view
genes like me logo Genes that share phenotypes with PEX5L: view

Animal Models for PEX5L Gene

MGI Knock Outs for PEX5L:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PEX5L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PEX5L Gene

Localization for PEX5L Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX5L Gene

Cytoplasm. Membrane; Peripheral membrane protein. Note=Some fraction is membrane associated via its interaction with RAB8B. {ECO:0000250}.

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 PEX5L gene
Compartment Confidence
cytosol 5
peroxisome 4
nucleus 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for PEX5L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005778 peroxisomal membrane IBA --
GO:0005829 cytosol IBA --
GO:0016020 membrane IEA --
GO:0043235 receptor complex IDA 23382219
genes like me logo Genes that share ontologies with PEX5L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PEX5L Gene

Pathways & Interactions for PEX5L Gene

SuperPathways for PEX5L Gene

SuperPathway Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX5L: view

Pathways by source for PEX5L Gene

1 KEGG pathway for PEX5L Gene

Gene Ontology (GO) - Biological Process for PEX5L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016560 protein import into peroxisome matrix, docking IBA --
GO:0043949 regulation of cAMP-mediated signaling ISS --
genes like me logo Genes that share ontologies with PEX5L: view

No data available for SIGNOR curated interactions for PEX5L Gene

Drugs & Compounds for PEX5L Gene

No Compound Related Data Available

Transcripts for PEX5L Gene

Unigene Clusters for PEX5L Gene

Peroxisomal biogenesis factor 5-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PEX5L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PEX5L Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b · 17c
SP1: - - -
SP2: - - -
SP3: - - - -
SP4:
SP5: - -
SP6: -
SP7: - - - -

Relevant External Links for PEX5L Gene

GeneLoc Exon Structure for
PEX5L
ECgene alternative splicing isoforms for
PEX5L

Expression for PEX5L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PEX5L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PEX5L Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x8.3), Brain - Substantia nigra (x6.0), Brain - Frontal Cortex (BA9) (x5.9), Brain - Anterior cingulate cortex (BA24) (x5.5), Brain - Hippocampus (x5.2), and Brain - Cortex (x4.7).

Protein differential expression in normal tissues from HIPED for PEX5L Gene

This gene is overexpressed in Frontal cortex (34.5), Brain (18.4), and Spinal cord (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PEX5L Gene



Protein tissue co-expression partners for PEX5L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PEX5L Gene:

PEX5L

SOURCE GeneReport for Unigene cluster for PEX5L Gene:

Hs.235331

mRNA Expression by UniProt/SwissProt for PEX5L Gene:

Q8IYB4-PEX5R_HUMAN
Tissue specificity: Mainly expressed in brain. Also expressed in pancreas, testis and pituitary.

Evidence on tissue expression from TISSUES for PEX5L Gene

  • Nervous system(4.8)
  • Kidney(4)
  • Liver(4)
genes like me logo Genes that share expression patterns with PEX5L: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX5L Gene

Orthologs for PEX5L Gene

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

Orthologs for PEX5L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX5L 33 34
  • 97.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PEX5L 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PEX5L 33 34
  • 93.42 (n)
oppossum
(Monodelphis domestica)
Mammalia PEX5L 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PEX5L 33 34
  • 90.27 (n)
rat
(Rattus norvegicus)
Mammalia Pex5l 33
  • 88.43 (n)
mouse
(Mus musculus)
Mammalia Pex5l 33 16 34
  • 87.09 (n)
chicken
(Gallus gallus)
Aves PEX5L 33 34
  • 79.01 (n)
lizard
(Anolis carolinensis)
Reptilia PEX5L 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex5l 33
  • 72.46 (n)
zebrafish
(Danio rerio)
Actinopterygii pex5la 33 34
  • 65.69 (n)
PEX5L (2 of 2) 34
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Pex5 34
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea prx-5 34
  • 29 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX5 34
  • 23 (a)
ManyToMany
-- 34
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToMany
Species where no ortholog for PEX5L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 PEX5L Gene

ENSEMBL:
Gene Tree for PEX5L (if available)
TreeFam:
Gene Tree for PEX5L (if available)

Paralogs for PEX5L Gene

Paralogs for PEX5L Gene

(1) SIMAP similar genes for PEX5L Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PEX5L: view

Variants for PEX5L Gene

Sequence variations from dbSNP and Humsavar for PEX5L Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs146906651 A colorectal cancer sample 179,874,377(+) GAGGG(A/C/T)GCTTT reference, missense
rs1000015485 -- 179,900,079(+) TTTTA(C/T)CAAAA intron-variant
rs1000041217 -- 179,957,110(+) ATGTT(A/C)CATAA intron-variant
rs1000041308 -- 179,938,865(+) GTCTT(A/C)AGCCA intron-variant
rs1000066797 -- 180,017,817(+) ATTTA(C/T)TTCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PEX5L Gene

Variant ID Type Subtype PubMed ID
dgv20e24 CNV loss 17666407
dgv2645n106 CNV tandem duplication 24896259
dgv78n68 CNV gain 17160897
esv1008971 CNV deletion 20482838
esv1009120 CNV deletion 20482838
esv1408102 CNV deletion 17803354
esv1977016 CNV deletion 18987734
esv2395412 CNV deletion 18987734
esv2554672 CNV deletion 19546169
esv2667315 CNV deletion 23128226
esv2676913 CNV deletion 23128226
esv2726258 CNV deletion 23290073
esv2726259 CNV deletion 23290073
esv2726260 CNV deletion 23290073
esv2726261 CNV deletion 23290073
esv2726262 CNV deletion 23290073
esv2742991 CNV deletion 23290073
esv3302536 CNV tandem duplication 20981092
esv33044 CNV loss 17666407
esv33250 CNV loss 17666407
esv3353750 CNV insertion 20981092
esv3384637 CNV insertion 20981092
esv3414403 CNV insertion 20981092
esv3562977 CNV deletion 23714750
esv3562978 CNV deletion 23714750
esv3569144 CNV loss 25503493
esv3598848 CNV loss 21293372
esv3598849 CNV loss 21293372
esv3598851 CNV loss 21293372
esv3598852 CNV loss 21293372
esv8438 CNV loss 19470904
nsv1109568 CNV deletion 24896259
nsv236140 CNV deletion 16902084
nsv955519 CNV deletion 24416366

Variation tolerance for PEX5L Gene

Residual Variation Intolerance Score: 25.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.96; 36.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PEX5L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEX5L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX5L Gene

Disorders for PEX5L Gene

MalaCards: The human disease database

(3) MalaCards diseases for PEX5L Gene - From: DISEASES

Disorder Aliases PubMed IDs
rhizomelic chondrodysplasia punctata, type 5
  • rhizomelic chondrodysplasia punctata type 5
rhizomelic chondrodysplasia punctata, type 2
  • rhizomelic chondrodysplasia punctata type 2
rhizomelic chondrodysplasia punctata, type 1
  • rhizomelic chondrodysplasia punctata type 1
- elite association - COSMIC cancer census association via MalaCards
Search PEX5L in MalaCards View complete list of genes associated with diseases

Relevant External Links for PEX5L

Genetic Association Database (GAD)
PEX5L
Human Genome Epidemiology (HuGE) Navigator
PEX5L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PEX5L
genes like me logo Genes that share disorders with PEX5L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PEX5L Gene

Publications for PEX5L Gene

  1. Identification of PEX5p-related novel peroxisome-targeting signal 1 (PTS1)-binding proteins in mammals. (PMID: 11463335) Amery L … Van Veldhoven PP (The Biochemical journal 2001) 2 3 4 22 60
  2. Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. (PMID: 21490949) Sim X … Tai ES (PLoS genetics 2011) 3 45 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Association with the auxiliary subunit PEX5R/Trip8b controls responsiveness of HCN channels to cAMP and adrenergic stimulation. (PMID: 19555650) Zolles G … Klöcker N (Neuron 2009) 2 3 60
  5. Comparison of the PTS1- and Rab8b-binding properties of Pex5p and Pex5Rp/TRIP8b. (PMID: 18346465) Fransen M … Van Veldhoven PP (Biochimica et biophysica acta 2008) 3 22 60

Products for PEX5L Gene

Sources for PEX5L Gene

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