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EXD1 (Exonuclease 3'-5' Domain Containing 1) is a Protein Coding gene. Diseases associated with EXD1 include Cerebral Creatine Deficiency Syndrome 3 and Cerebral Creatine Deficiency Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and 3'-5' exonuclease activity. An important paralog of this gene is EXOSC10.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | ISS | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0008408 | NOT 3'-5' exonuclease activity | IEA,ISS | -- |
GO:0042803 | protein homodimerization activity | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0043186 | P granule | ISS | -- |
GO:1990923 | PET complex | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006139 | nucleobase-containing compound metabolic process | IEA | -- |
GO:0031047 | gene silencing by RNA | ISS | -- |
GO:0034587 | piRNA metabolic process | IEA,ISS | -- |
GO:0051321 | meiotic cell cycle | IEA | -- |
GO:0090305 | nucleic acid phosphodiester bond hydrolysis | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||
SP4: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EXD1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EXD1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EXD1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Exd1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Exd1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EXD1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | EXD1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EXD1 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | EXD1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | exd1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | exd1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | egl 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | egal-1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs522063 | - | p.Thr489Ala |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4499n54 | CNV | loss | 21841781 |
nsv1039906 | CNV | loss | 25217958 |
nsv1129379 | OTHER | inversion | 24896259 |
nsv1138357 | CNV | deletion | 24896259 |
nsv476391 | CNV | novel sequence insertion | 20440878 |
nsv569231 | CNV | loss | 21841781 |
nsv958016 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cerebral creatine deficiency syndrome 3 |
|
|
cerebral creatine deficiency syndrome |
|
|