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ACTR5 (Actin Related Protein 5) is a Protein Coding gene. Diseases associated with ACTR5 include Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Metabolism of proteins and Regulation of activated PAK-2p34 by proteasome mediated degradation. An important paralog of this gene is ACTC1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16230350 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 18026119 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IBA,IDA | 19014934 |
GO:0031011 | Ino80 complex | IDA | 18026119 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
2 | Metabolism of proteins | ||
3 | Deubiquitination |
.74
|
|
4 | DNA Double-Strand Break Repair |
.53
|
|
5 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
.47
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006281 | DNA repair | IEA | -- |
GO:0006302 | double-strand break repair | IBA,IMP | 19014934 |
GO:0006310 | DNA recombination | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IBA | 21873635 |
GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||
SP2: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ACTR5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ACTR5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ACTR5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Actr5 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Actr5 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | ACTR5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ACTR5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ACTR5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | actr5 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.16529 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | actr5 30 31 |
|
OneToOne | |
Dr.26688 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Arp5 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004488 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL253C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ARP5 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F03421g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ARP5 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU06394 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | arp5 30 |
|
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs17853829 | - | p.Arg298Leu | |||
rs2245231 | - | p.Ile483Val | |||
rs35805905 | - | p.Ile461Leu | |||
rs3752289 | - | p.Pro580Leu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1242e212 | CNV | loss | 25503493 |
esv3567959 | CNV | loss | 25503493 |
nsv1058457 | CNV | loss | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
autosomal recessive non-syndromic intellectual disability |
|
|