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The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a protein that inhibits the activation of the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
PSMF1 (Proteasome Inhibitor Subunit 1) is a Protein Coding gene. Diseases associated with PSMF1 include Pituitary Adenoma 2, Growth Hormone-Secreting and Spinocerebellar Ataxia 23. Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include endopeptidase inhibitor activity and proteasome binding.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH20J001117 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas | 288.7 | +5.8 | 5761 | 2.8 | CHD2 TBP SP1 MXD4 CEBPA SIX5 NR2C1 MNT BRCA1 SMAD5 | PSMF1 LOC105372493 NONHSAG031094.2 TBC1D20 SOX12 RBCK1 STK35 ENSG00000229728 SDCBP2-AS1 C20orf96 | |
GH20J001114 | Enhancer | 0.6 | Ensembl | 270.1 | +1.0 | 1040 | 0.6 | IKZF1 ELF1 CTCF GABPA ETV4 GABPB1 ZBTB40 ELF3 SMC3 HLF | PSMF1 LOC105372493 TMEM74B | |
GH20J001113 | Promoter | 0.5 | EPDnew | 250.7 | +0.0 | 19 | 0.1 | ZMYM3 ZSCAN4 | PSMF1 LOC105372493 TMEM74B | |
GH20J001121 | Enhancer | 1 | ENCODE | 37 | +9.4 | 9426 | 2.4 | CEBPA HOMEZ THAP11 CEBPB RAD51 REST FOXA2 ZNF511 SMAD4 SAP130 | PSMF1 STK35 ACTG1P3 TBC1D20 ENSG00000229728 RBCK1 NONHSAG031094.2 TMEM74B | |
GH20J001130 | Enhancer | 0.7 | Ensembl ENCODE | 32.3 | +17.9 | 17882 | 1.4 | ZNF316 SPI1 POLR2A CEBPB MLLT1 RBFOX2 CEBPG | PSMF1 NONHSAG031094.2 ACTG1P3 TMEM74B |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004866 | endopeptidase inhibitor activity | NAS | 10764772 |
GO:0005515 | protein binding | IPI | 16000308 |
GO:0042803 | protein homodimerization activity | IDA | 18495667 |
GO:0046982 | protein heterodimerization activity | IPI | 18495667 |
GO:0070628 | proteasome binding | IDA | 10764772 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000502 | proteasome complex | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA,IDA | 18495667 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | CDK-mediated phosphorylation and removal of Cdc6 |
.93
.93
|
.80
.80
.78
.70
.47
.31
|
2 | RET signaling |
.92
|
.92
|
3 | HIV Life Cycle |
.64
|
.45
|
4 | Class I MHC mediated antigen processing and presentation | ||
5 | Cell Cycle, Mitotic |
.83
|
.60
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000165 | MAPK cascade | TAS | -- |
GO:0000209 | protein polyubiquitination | TAS | -- |
GO:0002223 | stimulatory C-type lectin receptor signaling pathway | TAS | -- |
GO:0002479 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent | TAS | -- |
GO:0006511 | ubiquitin-dependent protein catabolic process | IBA,IDA | 10764772 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PSMF1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PSMF1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PSMF1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Psmf1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Psmf1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PSMF1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PSMF1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PSMF1 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | psmf1 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007418 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | PI31 30 |
|
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs146300768 | Likely Benign: not provided | 1,135,221(+) |
C/T NM_006814.5(PSMF1):c.466C>T (p.Arg156Trp) |
MISSENSE | |
rs35517343 | Benign: not provided | 1,125,500(+) |
G/A NM_006814.5(PSMF1):c.132G>A (p.Pro44=) |
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR | |
rs536850863 | Likely Benign: not provided | 1,163,148(+) |
G/A NM_006814.5(PSMF1):c.570G>A (p.Pro190=) |
SYNONYMOUS | |
rs79465651 | Benign: not provided | 1,163,153(+) |
T/C NM_006814.5(PSMF1):c.575T>C (p.Val192Ala) |
MISSENSE | |
rs1803415 | - |
p.Phe36Cys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv648e201 | CNV | deletion | 23290073 |
dgv649e201 | CNV | deletion | 23290073 |
dgv650e201 | CNV | deletion | 23290073 |
dgv651e201 | CNV | deletion | 23290073 |
esv1136177 | CNV | insertion | 17803354 |
esv2524932 | CNV | deletion | 19546169 |
esv2666587 | CNV | deletion | 23128226 |
esv2674425 | CNV | deletion | 23128226 |
esv2722050 | CNV | deletion | 23290073 |
esv2722052 | CNV | deletion | 23290073 |
esv2722058 | CNV | deletion | 23290073 |
esv2722059 | CNV | deletion | 23290073 |
esv2722060 | CNV | deletion | 23290073 |
esv3306542 | CNV | mobile element insertion | 20981092 |
esv3363197 | CNV | insertion | 20981092 |
esv3575346 | CNV | gain | 25503493 |
esv3575348 | CNV | gain | 25503493 |
esv3644952 | CNV | gain | 21293372 |
esv3644974 | CNV | loss | 21293372 |
nsv1057097 | CNV | gain | 25217958 |
nsv179100 | CNV | deletion | 16902084 |
nsv179964 | CNV | deletion | 16902084 |
nsv964368 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pituitary adenoma 2, growth hormone-secreting |
|
|
spinocerebellar ataxia 23 |
|
|
parkinson disease 15, autosomal recessive early-onset |
|
|