Aliases for PEX5L Gene
Aliases for PEX5L Gene
External Ids for PEX5L Gene
- HGNC: 30024
- Entrez Gene: 51555
- Ensembl: ENSG00000114757
- OMIM: 611058
- UniProtKB: 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 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
- 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 , fRNAdb sequence ontologies and piRNA Summary for PEX5L Gene
Genomics for PEX5L Gene
GeneHancer (GH) Regulatory Elements for PEX5L Gene
Promoters and enhancers for PEX5L Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH03I180036 | Promoter/Enhancer | 1.7 | EPDnew Ensembl ENCODE | 550.8 | +0.2 | 202 | 1.1 | MXI1 SIN3A BMI1 ZIC2 HIC1 ZNF335 CTBP1 GATA3 GLIS2 POLR2A | GC03P180037 PEX5L GC03M180001 | |
| GH03I179974 | Promoter/Enhancer | 0.9 | EPDnew dbSUPER | 550.2 | +62.8 | 62818 | 0.1 | ZFHX2 IKZF1 EGR2 | PEX5L PEX5L-AS1 GC03M180001 PEX5L-AS2 | |
| GH03I179955 | Enhancer | 1.1 | Ensembl ENCODE dbSUPER | 9.8 | +80.1 | 80125 | 2.1 | BACH1 EBF1 BMI1 RELA POLR2A NFATC1 ATF7 NFE2 ETV6 BCLAF1 | PEX5L-AS1 PEX5L GC03M180001 PEX5L-AS2 | |
| GH03I179961 | Enhancer | 0.8 | Ensembl dbSUPER | 9.8 | +75.6 | 75552 | 0.2 | TRIM22 DPF2 ZNF217 IKZF1 TARDBP NBN MLLT1 ATF7 IKZF2 | PEX5L-AS1 PEX5L GC03M180001 PEX5L-AS2 | |
| GH03I179959 | Enhancer | 0.5 | dbSUPER | 14.1 | +76.6 | 76648 | 1.5 | IKZF1 ATF7 ETV6 IKZF2 | PEX5L PEX5L-AS1 GC03M180001 PEX5L-AS2 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PEX5L on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for PEX5L Gene
Genomic Locations for PEX5L Gene
- chr3:179,794,958-180,037,053
- (GRCh38/hg38)
- Size:
- 242,096 bases
- Orientation:
- Minus strand
- chr3:179,512,746-179,754,841
- (GRCh37/hg19)
Genomic View for PEX5L Gene
Genes around PEX5L on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3q26.33 by Ensembl
- 3q26.33 by Entrez Gene
- 3q26.33 by HGNC
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:
-
- 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
- XP_011511184.1
- XP_011511186.1
- XP_011511187.1
- XP_011511188.1
- XP_011511189.1
- XP_011511190.1
- XP_011511193.1
- XP_011511194.1
- XP_016862090.1
- XP_016862091.1
- XP_016862092.1
- XP_016862093.1
- XP_016862094.1
- XP_016862095.1
- XP_016862096.1
- XP_016862097.1
- XP_016862098.1
- XP_016862099.1
- XP_016862100.1
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for PEX5L
- Novus Biologicals Antibodies for PEX5L
- Invitrogen Antibodies for PEX5L
- Search GeneTex for Antibodies for PEX5L
-
Santa Cruz Biotechnology (SCBT) Antibodies for PEX5L
Protein Products
-
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
- Search GeneTex for Proteins for PEX5L
Assay Products
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
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 | -- |
| 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 Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PEX5L
-
-
ViGene Biosciences lentiviral particle packaged cDNA for PEX5L gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PEX5L gene
- Search ViGene Biosciences for PEX5L
CRISPR Products
-
OriGene CRISPR knockouts for PEX5L
- genomics-online: gRNA clones - Search results for available PEX5L gene related products
- Applied Biological Materials CRISPR for PEX5L
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PEX5L
- GenScript: Design CRISPR guide RNA sequences 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
- Search ViGene Biosciences for PEX5L
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PEX5L
- Browse OriGene Inhibitory RNA Products For PEX5L
- genomics-online: shRNA clones - Search results for available PEX5L gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PEX5L gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for PEX5L
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PEX5L
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available PEX5L gene related products
- orf clones - Search results for available PEX5L gene related products
- Applied Biological Materials Clones for PEX5L
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PEX5L
-
ViGene Biosciences adenoviral particle packaged cDNA for PEX5L gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PEX5L gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PEX5L gene
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 |
| 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 |
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
IID
STRING
UniProtKB
| 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 | -- |
No data available for SIGNOR curated interactions for PEX5L Gene
Transcripts for PEX5L Gene
mRNA/cDNA for PEX5L Gene
- (47) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (40) Selected AceView cDNA sequences:
- (18) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PEX5L Gene
CRISPR Products
-
OriGene CRISPR knockouts for PEX5L
- genomics-online: gRNA clones - Search results for available PEX5L gene related products
- Applied Biological Materials CRISPR for PEX5L
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PEX5L
- GenScript: Design CRISPR guide RNA sequences for PEX5L
miRNA Products
- Search ViGene Biosciences for PEX5L
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PEX5L
- Browse OriGene Inhibitory RNA Products For PEX5L
- genomics-online: shRNA clones - Search results for available PEX5L gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PEX5L gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for PEX5L
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PEX5L
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available PEX5L gene related products
- orf clones - Search results for available PEX5L gene related products
- Applied Biological Materials Clones for PEX5L
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - | - | - | - |
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, PaxDb, and MOPED for PEX5L Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PEX5L Gene:
PEX5LSOURCE 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)
- Liver(4)
Primer Products
-
OriGene qPCR primer pairs for PEX5L
- genomics-online: primer clones - Search results for available PEX5L gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PEX5L 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PEX5L 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PEX5L 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PEX5L 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PEX5L 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pex5l 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Pex5l 33 16 34 |
|
||
| chicken (Gallus gallus) |
Aves | PEX5L 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | PEX5L 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pex5l 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pex5la 34 33 |
|
OneToMany | |
| PEX5L (2 of 2) 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Pex5 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | prx-5 34 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PEX5 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for PEX5L Gene
(1) SIMAP similar genes for PEX5L Gene using alignment to 5 proteins:
Variants for PEX5L Gene
| SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs146906651 | A colorectal cancer sample | 179,874,377(-) | C/A/T | coding_sequence_variant, missense_variant | |
| rs1000015485 | -- | 179,900,079(-) | T/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000041217 | -- | 179,957,110(-) | A/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000041308 | -- | 179,938,865(-) | A/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000066797 | -- | 180,017,817(-) | C/T | genic_upstream_transcript_variant, intron_variant |
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 Assay Products
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 |
|
|
| rhizomelic chondrodysplasia punctata, type 1 |
|
|
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 of Genetics and Cytogenetics in Oncology and Haematology
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 22 58
- Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. (PMID: 21490949) Sim X … Tai ES (PLoS genetics 2011) 3 44 58
- 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 44 58
- 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 58
- 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 58
Products for PEX5L Gene
- Browse R&D Systems for Antibodies
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- Custom Antibody ServicesOriGene Antibodies for PEX5L
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for PEX5L
- Search Origene for MassSpec and Protein Over-expression Lysates for PEX5L
- Origene Custom Protein Services for PEX5L
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PEX5L
- Browse OriGene Inhibitory RNA Products For PEX5L
- OriGene qPCR primer pairs for PEX5L
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PEX5L
- GenScript: Next-day shipping of latest version cDNA ORF clones for PEX5L in any vector
- GenScript Custom Purified and Recombinant Proteins Services for PEX5L
- GenScript Custom Assay Services for PEX5L
- GenScript Custom overexpressing Cell Line Services for PEX5L
- GenScript: Design CRISPR guide RNA sequences for PEX5L
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
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- Browse Sino Biological cDNA Clones
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- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for PEX5L
- Novus Biologicals proteins for PEX5L
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- Novus Biologicals Tissue Microarrays
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- Browse Antibodies at Cloud-Clone Corp.
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- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Cyagen custom Knockout/knockin (KOKI) mouse models for PEX5L
- VectorBuilder custom plasmid, inducible vectors for PEX5L
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PEX5L
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 12 available PEX5L Antibodies ranked by validation data
- Compare Top PEX5L Antibodies
- antibodies-online: Search results for available PEX5L related products ranked by validation data
- antibodies-online: Search results for available PEX5L related products ranked by validation data
- Search GeneTex for Antibodies for PEX5L
- Search GeneTex for Proteins for PEX5L
- ViGene Biosciences adenoviral particle packaged cDNA for PEX5L gene
- ViGene Biosciences lentiviral particle packaged cDNA for PEX5L gene
- ViGene Biosciences ready-to-package AAV shRNAs for PEX5L gene
- Search ViGene Biosciences for PEX5L
- Santa Cruz Biotechnology (SCBT) Antibodies for PEX5L
- Search Santa Cruz Biotechnology (SCBT) for PEX5L siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PEX5L
- Horizon Cell Lines for PEX5L
- genomics-online: cdna clones - Search results for available PEX5L gene related products
- orf clones - Search results for available PEX5L gene related products
- genomics-online: gRNA clones - Search results for available PEX5L gene related products
- genomics-online: primer clones - Search results for available PEX5L gene related products
- genomics-online: shRNA clones - Search results for available PEX5L gene related products
Sources for PEX5L Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
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- (135) Horizon
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- (138) Cyagen
- (139) VectorBuilder
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- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
