PSMF1 Gene
protein-coding GIFtS: 56
GCID: GC20P001041
|
|
proteasome (prosome, macropain) inhibitor subunit 1 (PI31)
| |
Aliases for PSMF1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Proteasome (Prosome, Macropain) Inhibitor Subunit 1 (PI31)1 2 | | PI311 2 | | HPI311 | | Proteasome Inhibitor HP131 Subunit2 | | Proteasome Inhibitor PI31 Subunit2 |
Export aliases for PSMF1 gene to outside databasesPrevious GC identifers: GC20P001087 GC20P001088 |
Summaries for PSMF1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for PSMF1: The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composedof 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, whichcontains 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 anATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, theimmunoproteasome, is the processing of class I MHC peptides. This gene encodes a protein that inhibits the activationof the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene.(provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: PSMF1_HUMAN, Q92530Function: Plays an important role in control of proteasome function. Inhibits the hydrolysis of protein and peptidesubstrates by the 20S proteasome. Also inhibits the activation of the proteasome by the proteasome regulatory proteinsPA700 and PA28 Gene Wiki entry for PSMF1
|
Genomic Views for PSMF1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000020.10 NC_018931.1 NT_011387.8
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the PSMF1 gene promoter: NRSF form 1 NRSF form 2 Other transcription factors
Search SABiosciences Chromatin IP Primers for PSMF1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PSMF1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 20p13 Ensembl cytogenetic band: 20p13 HGNC cytogenetic band: 20p13PSMF1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 20 GeneLoc Exon Structure GeneLoc location for GC20P001041: view genomic region
(about GC identifiers)
Start:
|
1,093,906 bp from pter |
End:
|
1,149,022 bp from pter |
Size:
|
55,117 bases |
Orientation:
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plus strand |
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Proteins for PSMF1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: PSMF1_HUMAN, Q92530 (See
protein sequence)Recommended Name: Proteasome inhibitor PI31 subunit Size: 271 amino acids; 29817 Da
Subunit: Monomer (Probable)
1 PDB 3D structure from and Proteopedia for PSMF1:2VT8 (3D)
 
Secondary accessions: A0AVQ9 D3DVW3 Q9H4I1Explore the universe of human proteins at neXtProt for PSMF1: NX_Q92530
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q92530 PSMF1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_006805.2 NP_848693.2 ENSEMBL proteins: ENSP00000371324 ENSP00000246015 ENSP00000338039 ENSP00000396547 ENSP00000401404 ENSP00000327704 ENSP00000371323 Reactome Protein details: Q92530 Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
PSMF1 for ontologies About GeneDecksing
PSMF1 Antibody Products: Assay Products for PSMF1: |
Protein
Domains / Families for PSMF1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PSMF1 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q92530ProtoNet protein and cluster: Q92530 1 Blocks protein family: IPB013886 PI31 proteasome regulator
UniProtKB/Swiss-Prot: PSMF1_HUMAN, Q92530Similarity: Belongs to the proteasome inhibitor PI31 family |
Function for PSMF1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: PSMF1_HUMAN, Q92530Function: Plays an important role in control of proteasome function. Inhibits the hydrolysis of protein and peptidesubstrates by the 20S proteasome. Also inhibits the activation of the proteasome by the proteasome regulatory proteinsPA700 and PA28
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PSMF1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PSMF1 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PSMF1 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
PSMF1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for PSMF1:
|
Pathways & Interactions for PSMF1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways - 5/14 super-pathways (see all 14) About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Ubiquitinated Orc1 is degraded by the proteasome | | | 2 | M Phase | | | 3 | Antigen processing: Ubiquitination & Proteasome degradation | | | 4 | Immune System | | | 5 | HIV Infection | |
Pathway sources See GeneCards unified pathways Show all pathways
5/98
Reactome Pathways for PSMF1 (see all 98)
1
Kegg Pathway (Kegg details for PSMF1):
PSMF1 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PSMF1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/133 Interacting proteins for PSMF1 (Q925301, 2, 3 ENSP000003277044) via UniProtKB, MINT, STRING, and/or I2D (see all 133)About this table
Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000075 | cell cycle checkpoint |
TAS | -- | | GO:0000082 | G1/S transition of mitotic cell cycle |
TAS | -- | | GO:0000084 | S phase of mitotic cell cycle |
TAS | -- | | GO:0000209 | protein polyubiquitination |
TAS | -- | | GO:0000216 | M/G1 transition of mitotic cell cycle |
TAS | -- |
PSMF1 for ontologies About GeneDecksing
|
Drugs & Compounds for PSMF1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for PSMF1 Search CenterWatch for drugs/clinical trials and news about PSMF1 
|
Transcripts for PSMF1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for PSMF1 gene (3 alternative transcripts): NM_006814.3 NM_178578.2 NM_178579.1 Unigene Cluster for PSMF1: Proteasome (prosome, macropain) inhibitor subunit 1 (PI31) Hs.471917 [show with all ESTs]Unigene Representative Sequence: NM_00681411 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000381899 ENST00000479715 ENST00000246015(uc010zpp.2) ENST00000335877(uc002wen.4) ENST00000478004 ENST00000461847 ENST00000484891(uc002wep.4) ENST00000435720 ENST00000438768 ENST00000333082(uc010zpo.2 uc002wel.4) ENST00000381898
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PSMF1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PSMF1 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): PSMF1 (NM_006814) | |  | DNA2.0 Custom Codon Optimized Gene
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Additional cDNA sequence: AF055032.1 AK294134.1 AK300667.1 AK302164.1 BC029836.1 BC126127.1 BC126462.1 D88378.1 24/28 DOTS entries (see all 28): DT.455109 DT.91773500 DT.100841453 DT.95268312 DT.120811472 DT.101959133 DT.120811443 DT.100841442 DT.97779331 DT.100841440 DT.100841447 DT.95268867 DT.40132530 DT.95268311 DT.120811527 DT.210795 DT.100841454 DT.120811513 DT.319527 DT.100841451 DT.120811447 DT.120811474 DT.120811502 DT.99983196 24/541 AceView cDNA sequences (see all 541): BX089168 BM696664 AI050783 AI089637 NM_178579 BF928030 AW473385 BQ024314 BX114789 AA251101 AI095036 AI092877 F09240 R83911 BP375747 AI362215 T35281 AA011302 AI492323 AW381382 AA873845 BI494661 BQ028886 AA370637 GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for PSMF1 (see all 7) About this scheme
| 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: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for PSMF1
|
Expression for PSMF1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PSMF1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TTGCCGGTTT
About this image See PSMF1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for PSMF1
SOURCE GeneReport for Unigene cluster: Hs.471917 SABiosciences Custom PCR Arrays for PSMF1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PSMF1 Browse OriGene validated miRNA SYBR primer pairs
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| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PSMF1 |
Orthologs for PSMF1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for PSMF1 gene from 7/20 species (see all 20) About this table
ENSEMBL Gene Tree for PSMF1 (if available) TreeFam Gene Tree for PSMF1 (if available)  |
Paralogs for PSMF1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for PSMF1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 20 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for PSMF1 (1093906 - 1149022 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 3 variations for PSMF1 1 CNV: 102895 2 Indels: 12138 12139  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PSMF1 |
|
Disorders
/ Diseases for PSMF1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PSMF1 for disorders About GeneDecksing
2 diseases for PSMF1: About MalaCardsataxia immunodeficiency Export disorders for PSMF1 gene to outside databases
|
Publications for PSMF1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for PSMF1 gene, integrated from 9 sources (see all 58): (articles sorted by number of sources associating them with PSMF1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
- cDNA cloning, expression, and functional characterization of PI31, a proline-rich inhibitor of the proteasome. (PubMed id 10764772)1, 2 McCutchen-Maloney S.L.... DeMartino G.N. (2000)
- The proteasome-dependent proteolytic system. (PubMed id 10363639)1, 3 Tanahashi N....Tanaka K. (1999)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Activity-based chemical proteomics accelerates inhibi tor development for deubiquitylating enzymes. (PubMed id 22118674)1 Altun M....Kessler B.M. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
|
External Searches for PSMF1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing PSMF1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing PSMF1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PSMF1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for PSMF1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for PSMF1 gene: Search GeneIP for patents involving PSMF1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for PSMF1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
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| |
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