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PSMG1 (Proteasome Assembly Chaperone 1) is a Protein Coding gene. Diseases associated with PSMG1 include Down Syndrome and Thrombasthenia. Gene Ontology (GO) annotations related to this gene include proteasome binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16251969 |
GO:0060090 | molecular adaptor activity | IGI | 17189198 |
GO:0070628 | proteasome binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 15670775 |
GO:0005783 | endoplasmic reticulum | IBA,IDA | 15590417 |
GO:0005794 | Golgi apparatus | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0021930 | cerebellar granule cell precursor proliferation | IEA | -- |
GO:0043248 | proteasome assembly | IEA | -- |
GO:0051131 | chaperone-mediated protein complex assembly | IGI | 17189198 |
GO:0080129 | proteasome core complex assembly | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PSMG1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PSMG1 31 |
|
OneToOne | |
LOC608101 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | PSMG1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Psmg1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Psmg1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PSMG1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | PSMG1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PSMG1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | psmg1 30 |
|
||
Str.2934 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | psmg1 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
714833 | Benign: not provided | 39,178,608(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
732398 | Benign: not provided | 39,175,629(-) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
749452 | Likely Benign: not provided | 39,178,465(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
rs8131611 | - | p.Ile166Val |
Disorder | Aliases | PubMed IDs |
---|---|---|
down syndrome |
|
|
thrombasthenia |
|
|