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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 n... See more...
Aliases for PSMF1 Gene
Aliases for PSMF1 Gene
External Ids for PSMF1 Gene
- HGNC: 9571
- NCBI Entrez Gene: 9491
- Ensembl: ENSG00000125818
- OMIM®: 617858
- UniProtKB/Swiss-Prot: Q92530
Previous GeneCards Identifiers for PSMF1 Gene
- GC20P001087
- GC20P001088
- GC20P001041
- GC20P001094
Summaries for PSMF1 Gene
-
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]
GeneCards Summary for PSMF1 Gene
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.
UniProtKB/Swiss-Prot Summary for PSMF1 Gene
-
Plays an important role in control of proteasome function. Inhibits the hydrolysis of protein and peptide substrates by the 20S proteasome. Also inhibits the activation of the proteasome by the proteasome regulatory proteins PA700 and PA28.
Additional gene information for PSMF1 Gene
- HGNC (9571)
- NCBI Entrez Gene (9491)
- Ensembl (ENSG00000125818)
- OMIM® (617858)
- UniProtKB/Swiss-Prot (Q92530)
- Open Targets Platform(ENSG00000125818)
- Search for PSMF1 at DataMed
- Search for PSMF1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PSMF1 Gene
Genomics for PSMF1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PSMF1 Gene
| 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 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PSMF1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSMF1
- Top Transcription factor binding sites by QIAGEN in the PSMF1 gene promoter:
-
- NRSF form 1
- NRSF form 2
Genomic Locations for PSMF1 Gene
Latest Assembly
- chr20:1,113,240-1,189,415
- (GRCh38/hg38)
- Size:
- 76,176 bases
- Orientation:
- Plus strand
Previous Assembly
- chr20:1,093,906-1,152,890
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 58,985 bases
- Orientation:
- Plus strand
- chr20:1,093,906-1,160,596
- (GRCh37/hg19 by Ensembl)
- Size:
- 66,691 bases
- Orientation:
- Plus strand
Genomic View for PSMF1 Gene
Genes around PSMF1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20p13 by HGNC
- 20p13 by Entrez Gene
- 20p13 by Ensembl
PSMF1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PSMF1 Gene
Proteins for PSMF1 Gene
-
Protein details for PSMF1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q92530-PSMF1_HUMAN
- Recommended name:
- Proteasome inhibitor PI31 subunit
- Protein Accession:
- Q92530
- A0AVQ9
- D3DVW3
- Q9H4I1
Protein attributes for PSMF1 Gene
- Size:
- 271 amino acids
- Molecular mass:
- 29817 Da
- Quaternary structure:
-
- Monomer and homodimer. Interacts with FBXO7. Interacts with the 20S proteasome.
Protein Expression for PSMF1 Gene
Post-translational modifications for PSMF1 Gene
Other Protein References for PSMF1 Gene
Antibodies for research
- G Biosciences Immunotagā¢ PSMF1 Antibody
- Novus Biologicals Antibodies for PSMF1
-
Abcam antibodies for PSMF1
- Invitrogen Antibodies for PSMF1 (AFLGC-PSMF1)
-
Boster Bio Antibodies for PSMF1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PSMF1
- Sino Biological Antibodies for PSMF1
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for PSMF1
- Origene Custom Protein Services for PSMF1
- ProSpec Recombinant Proteins for PSMF1
-
Abcam proteins for PSMF1
Assay products for research
No data available for DME Specific Peptides for PSMF1 Gene
Domains & Families for PSMF1 Gene
Gene Families for PSMF1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for PSMF1 Gene
- InterPro:
- Blocks:
-
- PI31 proteasome regulator
- ProtoNet:
Suggested Antigen Peptide Sequences for PSMF1 Gene
- GenScript: Design optimal peptide antigens:
-
- Proteasome inhibitor PI31 subunit (PSMF1_HUMAN)
- Proteasome (Prosome, macropain) inhibitor subunit 1 (PI31) (Q5QPM4_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q92530- Family:
-
- Belongs to the proteasome inhibitor PI31 family.
Function for PSMF1 Gene
Molecular function for PSMF1 Gene
- UniProtKB/Swiss-Prot Function:
- Plays an important role in control of proteasome function. Inhibits the hydrolysis of protein and peptide substrates by the 20S proteasome. Also inhibits the activation of the proteasome by the proteasome regulatory proteins PA700 and PA28.
Phenotypes From GWAS Catalog for PSMF1 Gene
| 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 |
Phenotypes for PSMF1 Gene
- MGI mutant phenotypes for PSMF1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PSMF1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Synthetic lethal with Ras
- Decreased viability
- shRNA abundance <= 50%
- Decreased shRNA abundance (Z-score < -2)
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased shRNA abundance (Z-score > 2)
- Increased IL-8 secretion
- Decreased infection with West Nile virus (WNV)
- Decreased West Nile virus (WNV) infection
Animal Models for PSMF1 Gene
- MGI Knock Outs for PSMF1:
-
- Psmf1 Psmf1<tm1b(EUCOMM)Hmgu>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PSMF1 - Starting at $85 >
- * PSMF1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PSMF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PSMF1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PSMF1
miRNA for PSMF1 Gene
- miRTarBase miRNAs that target PSMF1
-
- hsa-miR-615-3p (MIRT039672)
- hsa-miR-151a-3p (MIRT043618)
- hsa-miR-320a (MIRT044684)
- hsa-miR-92a-3p (MIRT049749)
- hsa-miR-518c-5p (MIRT470124)
- hsa-miR-6515-5p (MIRT470125)
- hsa-miR-6797-5p (MIRT470126)
- hsa-miR-1249-5p (MIRT470127)
- hsa-miR-671-5p (MIRT470128)
- hsa-miR-661 (MIRT470129)
- hsa-miR-4768-3p (MIRT470130)
- hsa-miR-6736-3p (MIRT470131)
- hsa-miR-4802-5p (MIRT470132)
- hsa-miR-9500 (MIRT470133)
- hsa-miR-665 (MIRT470134)
- hsa-miR-6773-5p (MIRT718190)
- hsa-miR-6724-5p (MIRT718191)
- hsa-miR-296-5p (MIRT718192)
- hsa-miR-6721-5p (MIRT718193)
- hsa-miR-6775-3p (MIRT718194)
- hsa-miR-1291 (MIRT718195)
- hsa-miR-6860 (MIRT718196)
- hsa-miR-612 (MIRT718197)
- hsa-miR-5189-5p (MIRT718198)
- hsa-miR-3187-5p (MIRT718199)
- hsa-miR-1285-3p (MIRT718200)
- hsa-miR-939-3p (MIRT718201)
- hsa-miR-6791-5p (MIRT718202)
- hsa-miR-4292 (MIRT718203)
- hsa-miR-451b (MIRT718204)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PSMF1
- Browse OriGene Inhibitory RNA Products For PSMF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMF1
Clone products for research
- Applied Biological Materials (abm): Clones for PSMF1 - Starting at $45 >
- * PSMF1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PSMF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PSMF1
Cell Lines for research
-
Horizon Cell Lines for PSMF1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PSMF1 Gene
Localization for PSMF1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PSMF1 Gene
- Cytoplasm. Endoplasmic reticulum.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| cytosol | 5 |
| nucleus | 4 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
- Cytosol (4)
| 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 | -- |
Pathways & Interactions for PSMF1 Gene
| 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
|
Pathways by source for PSMF1 Gene
1 KEGG pathway for PSMF1 Gene
Interacting Proteins for PSMF1 Gene
Selected Interacting proteins:
Q92530-PSMF1_HUMAN
ENSP00000338039
for PSMF1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PSMF1
| 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 |
Drugs & Compounds for PSMF1 Gene
Transcripts for PSMF1 Gene
mRNA/cDNA for PSMF1 Gene
- 7 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000246015 2042 nts (view in UCSC)
- ENST00000333082 3686 nts (view in UCSC)
- ENST00000335877 8154 nts (view in UCSC)
- ENST00000381898 642 nts (view in UCSC)
- ENST00000381899 704 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PSMF1 - Starting at $85 >
- * PSMF1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PSMF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PSMF1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PSMF1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PSMF1
- Browse OriGene Inhibitory RNA Products For PSMF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMF1
Clone products for research
- Applied Biological Materials (abm): Clones for PSMF1 - Starting at $45 >
- * PSMF1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PSMF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PSMF1
| 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: |
Relevant External Links for PSMF1 Gene
- GeneLoc Exon Structure for
- PSMF1
Expression for PSMF1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
- Hematopoietic Bone Marrow
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Brain (Nervous System)
- Intestine (Gastrointestinal Tract)
- Bone (Muscoskeletal System)
- Pancreas (Endocrine System)
- Ovary (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Spleen (Hematopoietic System)
-
Thyroid (Endocrine System)
-
Lung (Respiratory System)
-
Kidney (Urinary System)
-
Esophagus (Gastrointestinal Tract)
-
Stomach (Gastrointestinal Tract)
-
Adipose (Muscoskeletal System)
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PSMF1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PSMF1
SOURCE GeneReport for Unigene cluster for PSMF1 Gene:
Hs.471917Evidence on tissue expression from TISSUES for PSMF1 Gene
- Nervous system(4.7)
- Liver(4.5)
- Skin(3.2)
- Lung(2.7)
- Eye(2.5)
- Intestine(2.5)
- Muscle(2.2)
- Kidney(2.1)
Primer products for research
-
OriGene qPCR primer pairs for PSMF1
-
OriGene qPCR primer pairs and template standards for PSMF1
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSMF1 Gene
Orthologs for PSMF1 Gene
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 |
|
- Species where no ortholog for PSMF1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for PSMF1 Gene
- ENSEMBL:
- Gene Tree for PSMF1 (if available)
- TreeFam:
- Gene Tree for PSMF1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PSMF1: view image
Paralogs for PSMF1 Gene
No data available for Paralogs for PSMF1 Gene
Variants for PSMF1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PSMF1 Gene
| 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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
Residual Variation Intolerance Score:
69.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.72;
57.54% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PSMF1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PSMF1
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMF1 Gene
Disorders for PSMF1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pituitary adenoma 2, growth hormone-secreting |
|
|
| spinocerebellar ataxia 23 |
|
|
| parkinson disease 15, autosomal recessive early-onset |
|
|
Search PSMF1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PSMF1
- Genetic Association Database
- (GAD)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for PSMF1 Gene
Publications for PSMF1 Gene
- Structure of a conserved dimerization domain within the F-box protein Fbxo7 and the PI31 proteasome inhibitor. (PMID: 18495667) Kirk R ā¦ McDonald NQ (The Journal of biological chemistry 2008) 3 4
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS ā¦ MGC Project Team (Genome research 2004) 3 4
- The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P ā¦ Rogers J (Nature 2001) 3 4
- cDNA cloning, expression, and functional characterization of PI31, a proline-rich inhibitor of the proteasome. (PMID: 10764772) McCutchen-Maloney SL ā¦ DeMartino GN (The Journal of biological chemistry 2000) 3 4
- The proteasome-dependent proteolytic system. (PMID: 10363639) Tanahashi N ā¦ Tanaka K (Molecular biology reports 1999) 2 3
ExternalLinks
Products for PSMF1 Gene
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Sources for PSMF1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
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