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Aliases for PEX5L Gene
Aliases for PEX5L Gene
External Ids for PEX5L Gene
- HGNC: 30024
- NCBI Entrez Gene: 51555
- Ensembl: ENSG00000114757
- OMIM®: 611058
- UniProtKB/Swiss-Prot: Q8IYB4
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. Gene Ontology (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 Summary 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
- HGNC (30024)
- NCBI Entrez Gene (51555)
- Ensembl (ENSG00000114757)
- OMIM® (611058)
- UniProtKB/Swiss-Prot (Q8IYB4)
- Open Targets Platform(ENSG00000114757)
- Monarch Initiative
- Search for PEX5L at DataMed
- Search for PEX5L at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PEX5L Gene
Genomics for PEX5L Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PEX5L 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 PEX5L on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PEX5L
- Top Transcription factor binding sites by QIAGEN in the PEX5L gene promoter:
-
- AhR
- Arnt
- Max1
- Nkx3-1
- Nkx3-1 v1
- Nkx3-1 v2
- Nkx3-1 v3
- Pax-4a
- POU2F1
- POU2F1a
Genomic Locations for PEX5L Gene
Latest Assembly
- chr3:179,794,958-180,037,053
- (GRCh38/hg38)
- Size:
- 242,096 bases
- Orientation:
- Minus strand
Previous Assembly
- chr3:179,512,746-179,754,725
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 241,980 bases
- Orientation:
- Minus strand
- chr3:179,512,746-179,754,841
- (GRCh37/hg19 by Ensembl)
- 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:
-
- 3q26.33 by HGNC
- 3q26.33 by Entrez Gene
- 3q26.33 by Ensembl
PEX5L Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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 (PubMed:11463335). Interacts with HCN3 (By similarity).
- SequenceCaution:
-
- Sequence=CAC01120.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for PEX5L Gene
Post-translational modifications for PEX5L Gene
Other Protein References for PEX5L Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_011511190.1
- XP_011511193.1
- XP_011511194.1
- XP_016862096.1
- XP_016862097.1
- XP_024309358.1
- XP_024309359.1
- XP_024309360.1
- XP_024309361.1
- NP_001243679.1
- NP_001243680.1
- NP_001243681.1
- NP_001243682.1
- NP_001243683.1
- NP_001243684.1
- NP_001243685.1
- NP_001336315.1
- NP_001336316.1
- NP_001336317.1
- NP_001336318.1
- NP_001336319.1
- NP_001336320.1
- NP_001336321.1
- NP_001336322.1
- NP_001336323.1
- NP_001336324.1
- NP_001336325.1
- NP_001336326.1
- NP_001336327.1
- NP_001336328.1
- NP_001336330.1
- NP_001336333.1
- NP_001336335.1
- NP_001336337.1
- NP_001336338.1
- NP_001336339.1
- NP_057643.1
Antibodies for research
- Novus Biologicals Antibodies for PEX5L
- Invitrogen Antibodies for PEX5L (AFLGC-PEX5L)
-
Biorbyt antibodies for PEX5L
-
Santa Cruz Biotechnology (SCBT) Antibodies for PEX5L
Protein products for research
-
OriGene Purified Proteins for PEX5L
- Search Origene for MassSpec and Protein Over-expression Lysates for PEX5L
- Origene Custom Protein Services for PEX5L
- Novus Biologicals proteins for PEX5L
Assay products for research
No data available for DME Specific Peptides for PEX5L Gene
Domains & Families for PEX5L Gene
Gene Families for PEX5L Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for PEX5L Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for PEX5L Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ59678, highly similar to PEX5-related protein (B7Z219_HUMAN)
- cDNA FLJ61674, highly similar to PEX5-related protein (B7Z8P2_HUMAN)
- Peroxisome biogenesis factor 5-like (PEX5R_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8IYB4- Family:
-
- Belongs to the peroxisomal targeting signal receptor family.
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
| 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 | 21873635 |
| GO:0005515 | protein binding | IPI | -- |
| GO:0031267 | small GTPase binding | IPI | 18346465 |
Phenotypes for PEX5L Gene
- MGI mutant phenotypes for PEX5L:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for PEX5L:
Animal Models for PEX5L Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PEX5L - Starting at $85 >
- * PEX5L CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PEX5L
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PEX5L
-
Santa Cruz Biotechnology (SCBT) CRISPR for PEX5L
miRNA for PEX5L Gene
- miRTarBase miRNAs that target PEX5L
-
- hsa-miR-26b-5p (MIRT029375)
- hsa-miR-5011-5p (MIRT389969)
- hsa-miR-101-3p (MIRT513760)
- hsa-miR-548v (MIRT513761)
- hsa-miR-139-5p (MIRT513762)
- hsa-miR-545-5p (MIRT513763)
- hsa-miR-144-3p (MIRT513764)
- hsa-miR-548at-5p (MIRT513765)
- hsa-miR-4282 (MIRT513766)
- hsa-miR-548t-5p (MIRT513767)
- hsa-miR-548az-5p (MIRT513768)
- hsa-miR-548n (MIRT513769)
- hsa-miR-3682-5p (MIRT521977)
- hsa-miR-190a-3p (MIRT521978)
- hsa-miR-138-1-3p (MIRT521979)
- hsa-miR-1277-5p (MIRT521980)
- hsa-miR-1299 (MIRT535363)
- hsa-miR-3191-5p (MIRT535364)
- hsa-miR-642a-5p (MIRT535365)
- hsa-miR-7106-3p (MIRT535366)
- hsa-miR-6128 (MIRT535367)
- hsa-miR-875-3p (MIRT535368)
- hsa-miR-6824-3p (MIRT535369)
- hsa-miR-6764-3p (MIRT535370)
- hsa-miR-518c-5p (MIRT535371)
- hsa-miR-6817-3p (MIRT535372)
- hsa-miR-4469 (MIRT535373)
- hsa-miR-6769b-3p (MIRT535374)
- hsa-miR-4723-3p (MIRT535375)
- hsa-miR-3183 (MIRT535376)
- hsa-miR-2276-5p (MIRT535377)
- hsa-miR-6892-3p (MIRT535378)
- hsa-miR-545-3p (MIRT535379)
- hsa-miR-330-5p (MIRT535380)
- hsa-miR-326 (MIRT535381)
- hsa-miR-4284 (MIRT655227)
- hsa-miR-6778-3p (MIRT655228)
- hsa-miR-4772-3p (MIRT655229)
- hsa-miR-4638-5p (MIRT655230)
- hsa-miR-1307-3p (MIRT655231)
- hsa-miR-7113-3p (MIRT655232)
- hsa-miR-1304-3p (MIRT655233)
- hsa-miR-6741-3p (MIRT655234)
- hsa-miR-4485-5p (MIRT655235)
- hsa-miR-6890-3p (MIRT655236)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PEX5L
- Browse OriGene Inhibitory RNA Products For PEX5L
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX5L
Clone products for research
- Applied Biological Materials (abm): Clones for PEX5L - Starting at $45 >
- * PEX5L as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG216226
- MG218393
- MG219087
- MR216226
- MR216226L3
- MR216226L4
- MR218393
- MR218393L3
- MR218393L4
- MR219087
- MR219087L3
- MR219087L4
- MR230609
- RC219522
- RC219522L3
- RC219522L4
- RC234087
- RC234332
- RC234453
- RC234491
- RC234510
- RC234534
- RC234593
- RG219522
- RG234087
- RG234332
- RG234453
- RG234491
- RG234510
- RG234534
- RG234593
- RR213919
- RR213919L3
- RR213919L4
- MR216226L3V
- MR216226L4V
- MR218393L3V
- MR218393L4V
- MR219087L3V
- MR219087L4V
- RC219522L3V
- RC219522L4V
- RR213919L3V
- RR213919L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PEX5L
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PEX5L
Cell Lines for research
-
Horizon Cell Lines for PEX5L
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}.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| peroxisome | 4 |
| nucleus | 3 |
| plasma membrane | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005778 | peroxisomal membrane | IBA | 21873635 |
| GO:0005829 | cytosol | IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
| GO:0043235 | receptor complex | IDA | 23382219 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PEX5L Gene
Pathways & Interactions for PEX5L Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Peroxisome | ||
Pathways by source for PEX5L Gene
1 KEGG pathway for PEX5L Gene
Interacting Proteins for PEX5L Gene
Selected Interacting proteins:
Q8IYB4-PEX5R_HUMAN
ENSP00000419975
for PEX5L Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for PEX5L
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016560 | protein import into peroxisome matrix, docking | IBA | 21873635 |
| GO:0043949 | regulation of cAMP-mediated signaling | ISS | -- |
No data available for SIGNOR curated interactions for PEX5L Gene
Transcripts for PEX5L Gene
mRNA/cDNA for PEX5L Gene
- 28 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000263962 2818 nts (view in UCSC)
- ENST00000392649 8540 nts (view in UCSC)
- ENST00000461537 545 nts (view in UCSC)
- ENST00000463761 874 nts (view in UCSC)
- ENST00000464614 1817 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PEX5L - Starting at $85 >
- * PEX5L CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PEX5L
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PEX5L
-
Santa Cruz Biotechnology (SCBT) CRISPR for PEX5L
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PEX5L
- Browse OriGene Inhibitory RNA Products For PEX5L
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX5L
Clone products for research
- Applied Biological Materials (abm): Clones for PEX5L - Starting at $45 >
- * PEX5L as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG216226
- MG218393
- MG219087
- MR216226
- MR216226L3
- MR216226L4
- MR218393
- MR218393L3
- MR218393L4
- MR219087
- MR219087L3
- MR219087L4
- MR230609
- RC219522
- RC219522L3
- RC219522L4
- RC234087
- RC234332
- RC234453
- RC234491
- RC234510
- RC234534
- RC234593
- RG219522
- RG234087
- RG234332
- RG234453
- RG234491
- RG234510
- RG234534
- RG234593
- RR213919
- RR213919L3
- RR213919L4
- MR216226L3V
- MR216226L4V
- MR218393L3V
- MR218393L4V
- MR219087L3V
- MR219087L4V
- RC219522L3V
- RC219522L4V
- RR213919L3V
- RR213919L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PEX5L
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PEX5L
| 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
Expression for PEX5L Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Hypothalamus
- Hippocampus
- Thalamus
- Cerebellum
- Inner Cell Mass (Early Embryonic Tissues)
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Eye (Sensory Organs)
- Mature Rod Cells Outer Nuclear Layer
-
Neurons
- Mature Rod Cells Outer Nuclear Layer
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).
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 and MOPED for PEX5L Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PEX5L
SOURCE GeneReport for Unigene cluster for PEX5L Gene:
Hs.235331mRNA 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(4.2)
- Liver(4.2)
Primer products for research
-
OriGene qPCR primer pairs for PEX5L
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PEX5L 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PEX5L 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PEX5L 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PEX5L 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PEX5L 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pex5l 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Pex5l 30 17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PEX5L 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PEX5L 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pex5l 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pex5la 30 31 |
|
OneToMany | |
| PEX5L (2 of 2) 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Pex5 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | prx-5 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PEX5 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for PEX5L was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for PEX5L: view image
Paralogs for PEX5L Gene
Variants for PEX5L Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PEX5L Gene
| SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs146906651 | A colorectal cancer sample |
p.Ala226Thr |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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)
Additional Variant Information for PEX5L Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PEX5L
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX5L Gene
Disorders for PEX5L Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| rhizomelic chondrodysplasia punctata, type 5 |
|
|
| rhizomelic chondrodysplasia punctata, type 2 |
|
|
| nemaline myopathy 5 |
|
|
| rhizomelic chondrodysplasia punctata, type 1 |
|
|
| rhizomelic chondrodysplasia punctata, type 3 |
|
|
Search PEX5L in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PEX5L
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for PEX5L Gene
Publications for PEX5L Gene
- 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 23
- Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. (PMID: 21490949) Sim X … Tai ES (PLoS genetics 2011) 3 41
- 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 41
- 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
- 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 23
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Sources for PEX5L Gene
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