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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.
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 |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peroxisome |
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 | -- |
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: | - | - | - | - |
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 |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs146906651 | A colorectal cancer sample |
p.Ala226Thr |
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 |
|
|