PSMF1 Gene (Protein Coding)

Proteasome Inhibitor Subunit 1

GCID:: GC20P001113

GIFtS:: 40

Genes Participants

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

Proteasome Inhibitor Subunit 1 ² ³ ⁵
Proteasome (Prosome, Macropain) Inhibitor Subunit 1 (PI31) ² ³
Proteasome Inhibitor PI31 Subunit ³ ⁴
Proteasome Inhibitor HP131 Subunit ²
HPI31 ⁴
PI31 ³

External Ids for PSMF1 Gene

HGNC: 9571
Entrez Gene: 9491
Ensembl: ENSG00000125818
OMIM: 617858
UniProtKB: Q92530

Previous GeneCards Identifiers for PSMF1 Gene

GC20P001087
GC20P001088
GC20P001041
GC20P001094

Search aliases for PSMF1 gene in PubMed and other databases

Summaries for PSMF1 Gene

Entrez Gene Summary 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 Parkinson Disease 15, Autosomal Recessive Early-Onset and Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia. Among its related pathways are Metabolism of proteins and RET signaling. 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.
- PSMF1_HUMAN,Q92530

Gene Wiki entry for PSMF1 Gene

Additional gene information for PSMF1 Gene

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 for PSMF1 Gene

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
GH20J001117	Promoter/Enhancer	2.1	EPDnew Ensembl ENCODE CraniofacialAtlas	538.7	+5.8	5761	2.8	RXRA EP300 FOXK2 ZBTB40 ZNF217 ZSCAN5C SIN3A NRF1 MYC TCF12	PSMF1 ENSG00000286787 LOC105372493 NONHSAG031094.2 SOX12 TBC1D20 C20orf96 ACTG1P3
GH20J001114	Enhancer	0.6	Ensembl	520.1	+1.0	1040	0.6	CTCF ZBTB11 GABPA GABPB1 ELF1 ETV1 RAD21 ETV4 ZBTB40 HLF	PSMF1 ENSG00000286787 LOC105372493
GH20J001113	Promoter	0.6	EPDnew	500.7	+0.0	19	0.1	ZMYM3 ZFP36 ZSCAN4	PSMF1 ENSG00000286787 LOC105372493
GH20J001121	Enhancer	1	ENCODE	37	+9.4	9426	2.4	FOXK2 POLR2G NCOR1 ZNF10 ZBTB11 TCF7 REST ZBTB25 USF2 TOE1	PSMF1 NONHSAG031094.2 ACTG1P3
GH20J001130	Enhancer	0.7	Ensembl ENCODE	32.3	+17.9	17882	1.4	ZNF316 CEBPG MAFK SPI1 POLR2A CEBPB MLLT1 ZNF770 RBFOX2 SRF	PSMF1 NONHSAG031094.2 ACTG1P3

- 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 UCSC Golden Path with GeneCards custom track

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

chr20:1,113,240-1,189,415: (GRCh38/hg38)

Size:: 76,176 bases
Orientation:: Plus strand

chr20:1,093,906-1,160,596: (GRCh37/hg19)

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 Location for PSMF1 Gene — Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PSMF1 Gene

NC_000020.11

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

Secondary Accessions:
- 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.
Three dimensional structures from OCA and Proteopedia for PSMF1 Gene
- 2VT8 (3D)
- 4OUH (3D)

neXtProt entry for PSMF1 Gene

Protein Expression for PSMF1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PSMF1 Gene

Ubiquitination at Lys125 and Lys148
- NX_Q92530 (NX_Q92530-1)
Modification sites at PhosphoSitePlus
- Q92530

Other Protein References for PSMF1 Gene

ENSEMBL proteins:

REFSEQ proteins:

Antibody Products

G Biosciences Immunotag™ PSMF1 Antibody

Creative Diagnostics Anti-PSMF1 monoclonal antibody, clone 3E8

Creative Biolabs Recombinant Anti-Human PSMF1 Antibody and Mouse Anti-PSMF1 Recombinant Antibody (2F9)

OriGene Antibodies for PSMF1
- CF505192
- CF505275
- TA302572
- TA308605
- TA332759
- TA505192
- TA505192S
- TA505275
- TA505275S
Custom Antibody Services

Novus Biologicals Antibodies for PSMF1

Abcam antibodies for PSMF1
- Proteasome Inhibitor subunit 1 PI3 1

Invitrogen Antibodies for PSMF1 (AFLGC-PSMF1)

antibodies-online: Show 15 available PSMF1 Antibodies ranked by validation data
Compare Top PSMF1 Antibodies
Recommended

Biorbyt antibodies for PSMF1

Browse Boster Bio Antibodies

Santa Cruz Biotechnology (SCBT) Antibodies for PSMF1
- PI31 (26)

Browse Sino Biological Antibodies

Protein Products

Creative Biomart Recombinant Human Proteasome (prosome, macropain) Inhibitor Subunit 1 (PI31), His-tagged

OriGene Purified Proteins for PSMF1
- NM_178578
- NM_006814
- NM_006814
- NM_178578
- NM_006814
- NM_178578
- NM_001323407
- NM_001323407
- NM_178578
- NM_006814
- NM_212446
Search Origene for MassSpec and Protein Over-expression Lysates for PSMF1
Origene Custom Protein Services for PSMF1

Novus Biologicals proteins and lysates for PSMF1

ProSpec Recombinant Proteins for PSMF1

antibodies-online: Show 10 available PSMF1 Proteins ranked by validation data
Compare Top PSMF1 Proteins

Signalway Proteins for PSMF1
- AP71478
- GP12358

Search for PSMF1 Proteins at ProSci

Abcam proteins for PSMF1
- Proteasome Inhibitor subunit 1 PI3 1

Assay Products

antibodies-online: Search results for available PSMF1 related products ranked by validation data

Browse Boster Bio ELISA Kits

Search for PSMF1 ELISA kits at Signalway

Browse Sino Biological Assays

No data available for DME Specific Peptides for PSMF1 Gene

Domains & Families for PSMF1 Gene

Gene Families for PSMF1 Gene

HGNC:

Proteasome

Human Protein Atlas (HPA):

Predicted intracellular proteins

Protein Domains for PSMF1 Gene

Blocks:

PI31 proteasome regulator

InterPro:

ProtoNet:

Q92530

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

UniProtKB/Swiss-Prot:

PSMF1_HUMAN :

Belongs to the proteasome inhibitor PI31 family.

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.

PSMF1_HUMAN,Q92530

Phenotypes From GWAS Catalog for PSMF1 Gene

Gene Ontology (GO) - Molecular Function for PSMF1 Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004866	endopeptidase inhibitor activity	NAS	10764772
GO:0005515	protein binding	IPI	16713569
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:

Animal Models for PSMF1 Gene

MGI Knock Outs for PSMF1:

Psmf1 ^{Psmf1<tm1b(EUCOMM)Hmgu>}

Animal Model Products

Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study

CRISPR Products

Applied Biological Materials (abm): CRISPR Clones for PSMF1 - Select products 50% OFF >
* PSMF1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
* Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All

OriGene CRISPR knockouts for PSMF1
- GA106343
- GA214025
- KN415482
- KN514133

Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PSMF1

genomics-online: gRNA clones - Search results for available PSMF1 gene related products

Santa Cruz Biotechnology (SCBT) CRISPR for PSMF1

miRNA for PSMF1 Gene

miRTarBase miRNAs that target PSMF1

miRNA Products

Search GeneCopoeia for miRNA 3'UTR Target clone products for PSMF1

Browse OriGene miRNA Products For PSMF1

Inhibitory RNA Products

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

genomics-online: shRNA clones - Search results for available PSMF1 gene related products

Search Santa Cruz Biotechnology (SCBT) for PSMF1 siRNA/shRNA

Clone Products

Applied Biological Materials (abm): Clones for PSMF1 - Select products 50% OFF >
* PSMF1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
* Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All

OriGene clones in human,mouse,rat for PSMF1
- MC212831
- RN210267
- SC111732
- SC312741
OriGene ORF clones in human,mouse,rat for PSMF1
- MG218495
- MR218495
- MR218495L3
- MR218495L4
- RC215482
- RC215482L3
- RC215482L4
- RC218938
- RC218938L1
- RC218938L2
- RC218938L3
- RC218938L4
- RG215482
- RG218938
- RR210267
- RR210267L3
- RR210267L4
- MR218495L3V
- MR218495L4V
- RC215482L3V
- RC215482L4V
- RC218938L1V
- RC218938L2V
- RC218938L3V
- RC218938L4V
- RR210267L3V
- RR210267L4V
Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling

Sino Biological Human cDNA Clone for PSMF1

Search Addgene for plasmids for PSMF1

Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PSMF1

genomics-online: cdna clones - Search results for available PSMF1 gene related products
orf clones - Search results for available PSMF1 gene related products

Cell Line Products

Browse ESI BIO Cell Lines and PureStem Progenitors for PSMF1

Browse GeneCopoeia Cell Lines

VectorBuilder Stable cell line generation for PSMF1

Horizon Cell Lines for PSMF1
- PSMF1 knockout cell line
- PSMF1 knockout cell line

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.

Q92530-PSMF1_HUMAN

Subcellular locations from

COMPARTMENTS

Compartment	Confidence
endoplasmic reticulum	5
cytosol	5
nucleus	4
mitochondrion	2
plasma membrane	1
extracellular	1
cytoskeleton	1
peroxisome	1
endosome	1
lysosome	1

Subcellular locations from the

Human Protein Atlas (HPA)

Cytosol (4)

See all subcellular structures

Gene Ontology (GO) - Cellular Components for PSMF1 Gene

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	IDA,IEA	18495667
GO:0005829	cytosol	TAS	--

Pathways & Interactions for PSMF1 Gene

SuperPathways for PSMF1 Gene

	SuperPathway	Contained pathways
1	CDK-mediated phosphorylation and removal of Cdc6	Activation of APC/C and APC/C-Cdc20 mediated degradation of mitotic proteins .95 Cdc20-Phospho-APC/C mediated degradation of Cyclin A .95 Autodegradation of the E3 ubiquitin ligase COP1 .95 Stabilization of p53 .95 Regulation of activated PAK-2p34 by proteasome mediated degradation .94 Regulation of Apoptosis .94 CDK-mediated phosphorylation and removal of Cdc6 .94 Ubiquitin-dependent degradation of Cyclin D .94 Ubiquitin-dependent degradation of Cyclin D1 .94 Orc1 removal from chromatin .94 Regulation of DNA replication .94 Switching of origins to a post-replicative state .94 Cyclin A-Cdk2-associated events at S phase entry .93 Cyclin E associated events during G1/S transition .93 APC/C-Cdc20 mediated degradation of Securin .93 APC/C-Cdh1 mediated degradation of Cdc20 and other APC/C-Cdh1 targeted proteins in late mitosis/early G1 .93 APC/C-mediated degradation of cell cycle proteins .93 Regulation of APC/C activators between G1/S and early anaphase .93 Regulation of mitotic cell cycle .93 DNA Replication .93 Synthesis of DNA .93 Vpu mediated degradation of CD4 .93 Autodegradation of Cdh1 by Cdh1-APC/C .91 SCF-beta-TrCP mediated degradation of Emi1 .91 p53-Independent DNA Damage Response .91 p53-Independent G1/S DNA damage checkpoint .91 Ubiquitin Mediated Degradation of Phosphorylated Cdc25A .91 ABC transporter disorders .91 Disorders of transmembrane transporters .91 Defective CFTR causes cystic fibrosis .90 Assembly of the pre-replicative complex .90 Hedgehog ligand biogenesis .90 Hh mutants abrogate ligand secretion .90 APC/C-Cdc20 mediated degradation of mitotic proteins .89 APC-Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint .89 Vif-mediated degradation of APOBEC3G .89 Degradation of GLI1 by the proteasome .89 Degradation of GLI2 by the proteasome .89 GLI3 is processed to GLI3R by the proteasome .89	FBXL7 down-regulates AURKA during mitotic entry and in early mitosis .88 Degradation of AXIN .88 Cellular response to hypoxia .87 Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha .87 Regulation of Hypoxia-inducible Factor (HIF) by oxygen .87 CDT1 association with the CDC6-ORC-origin complex .87 Hh mutants that dont undergo autocatalytic processing are degraded by ERAD .87 AUF1 (hnRNP D0) binds and destabilizes mRNA .86 p53-Dependent G1 DNA Damage Response .86 p53-Dependent G1/S DNA damage checkpoint .86 SCF(Skp2)-mediated degradation of p27/p21 .86 Removal of licensing factors from origins .86 NIK-->noncanonical NF-kB signaling .85 Dectin-1 mediated noncanonical NF-kB signaling .84 G1/S DNA Damage Checkpoints .84 Degradation of DVL .83 Cross-presentation of soluble exogenous antigens (endosomes) .82 The role of GTSE1 in G2/M progression after G2 checkpoint .81 Regulation of ornithine decarboxylase (ODC) .81 DNA Replication Pre-Initiation .80 M/G1 Transition .80 Proteasome .78 S Phase .78 Activation of NF-kappaB in B cells .77 Asymmetric localization of PCP proteins .74 FCERI mediated NF-kB activation .72 Regulation of RAS by GAPs .70 PCP/CE pathway .70 Beta-catenin independent WNT signaling .64 Degradation of beta-catenin by the destruction complex .64 Regulation of mRNA stability by proteins that bind AU-rich elements .63 Metabolism of polyamines .60 ABC-family proteins mediated transport .58 TNFR2 non-canonical NF-kB pathway .58 MAPK6/MAPK4 signaling .57 UCH proteinases .47 Apoptosis .31 Programmed Cell Death .31
2	RET signaling	Frs2-mediated activation .95 GRB2 events in EGFR signaling .95 MAPK1/MAPK3 signaling .95 Prolonged ERK activation events .95 RAF/MAP kinase cascade .95 SHC1 events in EGFR signaling .95 Signaling by Leptin .95 SOS-mediated signalling .95 VEGFR2 mediated cell proliferation .95 ARMS-mediated activation .95 Signalling to ERKs .95 Signalling to p38 via RIT and RIN .95 Signalling to RAS .95 Interleukin receptor SHC signaling .95 Interleukin-3, 5 and GM-CSF signaling .94 Interleukin-2 signaling .94 Downstream signal transduction .94 Signaling by PDGF .94 DAP12 signaling .92	RET signaling .92 Insulin receptor signalling cascade .92 Signaling by Insulin receptor .92 IRS-mediated signalling .91 Signaling by EGFR .90 FCERI mediated MAPK activation .90 IGF1R signaling cascade .90 IRS-related events triggered by IGF1R .90 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) .90 DAP12 interactions .89 NCAM signaling for neurite out-growth .89 NGF signalling via TRKA from the plasma membrane .87 MAPK family signaling cascades .87 Signaling by SCF-KIT .85 Signalling by NGF .81 Fc epsilon receptor (FCERI) signaling .79 VEGFA-VEGFR2 Pathway .78 Signaling by VEGF .76 Gastrin-CREB signalling pathway via PKC and MAPK .55
3	HIV Life Cycle	HIV Infection .64 Infectious disease .61 Host Interactions of HIV factors .57	Disease .45 Diseases of signal transduction .43
4	Class I MHC mediated antigen processing and presentation	Antigen processing- Ubiquitination and Proteasome degradation .83 Class I MHC mediated antigen processing and presentation .83	Adaptive Immune System .45
5	Cell Cycle, Mitotic	Cell Cycle .83 Cell Cycle, Mitotic .83	M Phase .60

Pathways by source for PSMF1 Gene

164 Reactome pathways for PSMF1 Gene

1 KEGG pathway for PSMF1 Gene

Proteasome

Interacting Proteins for PSMF1 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)

Selected Interacting proteins: Q92530-PSMF1_HUMAN ENSP00000338039 for PSMF1 Gene via UniProtKB MINT STRING IID

Symbol	External ID(s)	Details
CD2BP2	O95400 ²⁰ ¹²⁷ ENSP00000304903 ²¹	MINT-62663 STRING: ENSP00000304903 IID: # exp=1
FBXO7	Q9Y3I1 ⁴ ¹²⁷ ENSP00000266087 ²¹	EBI-945916, EBI-1161222 STRING: ENSP00000266087 IID: # exp=6
BIRC2	ENSP00000477613 ²¹ Q13490 ¹²⁷	STRING: ENSP00000477613 IID: # pred=1
C9orf24	ENSP00000297623 ²¹ Q8NCR6 ¹²⁷	STRING: ENSP00000297623 IID: # exp=2
CRX	ENSP00000221996 ²¹ O43186 ¹²⁷	STRING: ENSP00000221996 IID: # exp=1

GPS-Prot Interaction Network for PSMF1

;

Gene Ontology (GO) - Biological Process for PSMF1 Gene

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	IDA,IBA	10764772

No data available for SIGNOR curated interactions for PSMF1 Gene

Drugs & Compounds for PSMF1 Gene

(2) Drugs for PSMF1 Gene - From: DGIdb

Name	Status	Disease Links	Group	Role	Mechanism of Action	Clinical Trials
Bortezomib	Approved, Investigational	MalaCards Medline Plus	Pharma	inhibitor, other	Proteosome and NF-kappaB inhibitor, Other, Proteasome inhibitors	888
carfilzomib	Approved, Investigational	MalaCards Medline Plus	Pharma	other, Inhibitor	Other, 20S Proteasome Inhibitor	0

Drug Products

Creative Biomart Recombinant Human Proteasome (prosome, macropain) Inhibitor Subunit 1 (PI31), His-tagged

Browse Tocris compounds for PSMF1

Browse compounds at ApexBio

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 bps (ENST00000246015.8)
ENST00000333082 3686 bps (ENST00000333082.7)
ENST00000335877 8154 bps (ENST00000335877.11)
ENST00000381898 642 bps (ENST00000381898.5)
ENST00000381899 704 bps (ENST00000381899.8)

CRISPR Products

Applied Biological Materials (abm): CRISPR Clones for PSMF1 - Select products 50% OFF >
* PSMF1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
* Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All

OriGene CRISPR knockouts for PSMF1
- GA106343
- GA214025
- KN415482
- KN514133

Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PSMF1

genomics-online: gRNA clones - Search results for available PSMF1 gene related products

Santa Cruz Biotechnology (SCBT) CRISPR for PSMF1

miRNA Products

Search GeneCopoeia for miRNA 3'UTR Target clone products for PSMF1

Browse OriGene miRNA Products For PSMF1

Inhibitory RNA Products

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

genomics-online: shRNA clones - Search results for available PSMF1 gene related products

Search Santa Cruz Biotechnology (SCBT) for PSMF1 siRNA/shRNA

Clone Products

Applied Biological Materials (abm): Clones for PSMF1 - Select products 50% OFF >
* PSMF1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
* Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All

OriGene clones in human,mouse,rat for PSMF1
- MC212831
- RN210267
- SC111732
- SC312741
OriGene ORF clones in human,mouse,rat for PSMF1
- MG218495
- MR218495
- MR218495L3
- MR218495L4
- RC215482
- RC215482L3
- RC215482L4
- RC218938
- RC218938L1
- RC218938L2
- RC218938L3
- RC218938L4
- RG215482
- RG218938
- RR210267
- RR210267L3
- RR210267L4
- MR218495L3V
- MR218495L4V
- RC215482L3V
- RC215482L4V
- RC218938L1V
- RC218938L2V
- RC218938L3V
- RC218938L4V
- RR210267L3V
- RR210267L4V
Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling

Sino Biological Human cDNA Clone for PSMF1

Search Addgene for plasmids for PSMF1

Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PSMF1

genomics-online: cdna clones - Search results for available PSMF1 gene related products
orf clones - Search results for available PSMF1 gene related products

Alternative Splicing Database (ASD) splice patterns (SP) for PSMF1 Gene

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 normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PSMF1 Gene

mRNA expression in normal human tissues for PSMF1 Gene

mRNA expression by BioGPS 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)
- Cerebral Cortex
Intestine (Gastrointestinal Tract)
- Duodenum
Bone (Muscoskeletal System)
- Bone Marrow
Pancreas (Endocrine System)
- Islets of Langerhans
Ovary (Reproductive System)
- Oviduct
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

Integrated Proteomics: protein expression from ProteomicsDB, MaxQB, and MOPED for PSMF1 Gene

Integrated proteomics: cell line protein expression from ProteomicsDB, MOPED and MaxQB for PSMF1 Gene

Protein tissue co-expression partners 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.471917

Evidence on tissue expression from TISSUES for PSMF1 Gene

Nervous system(4.6)
Liver(4.4)
Skin(2.9)
Lung(2.7)
Eye(2.5)
Intestine(2.5)

Primer Products

OriGene qPCR primer pairs for PSMF1
- HP209687
- MP211881
OriGene qPCR primer pairs and template standards for PSMF1
- HK209926

genomics-online: primer clones - Search results for available PSMF1 gene related products

Gene Expression Assay Products

Applied Biosystems by Thermo Fisher Scientific TaqMan® Assays for PSMF1

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.

Orthologs for PSMF1 Gene

Organism	Taxonomy	Gene	Similarity	Type	Details
chimpanzee (Pan troglodytes)	Mammalia	PSMF1 ³¹ ³⁰	99.38 (n)	OneToOne	20:1028205-1076970 458030 XM_001152935.2 XP_001152935.1
cow (Bos Taurus)	Mammalia	PSMF1 ³¹ ³⁰	90.62 (n)	OneToOne	13:60505462-60544959 617807 NM_001076478.1 NP_001069946.1
dog (Canis familiaris)	Mammalia	PSMF1 ³¹ ³⁰	89.91 (n)	OneToOne	24:19820067-19859492 477184 XM_534374.4 XP_534374.2
rat (Rattus norvegicus)	Mammalia	Psmf1 ³⁰	87.08 (n)		689852 NM_001101005.1 NP_001094475.1
mouse (Mus musculus)	Mammalia	Psmf1 ¹⁷ ³¹ ³⁰	86.47 (n)		151716062 2:151715812-151744186 228769 NM_212446.1 NP_997611.1
oppossum (Monodelphis domestica)	Mammalia	PSMF1 ³¹	77 (a)	OneToOne	1:403810540-403835866
chicken (Gallus gallus)	Aves	PSMF1 ³¹ ³⁰	64.33 (n)	OneToOne	20:10210994-10216774 430115 NM_001031582.1 NP_001026753.1
lizard (Anolis carolinensis)	Reptilia	PSMF1 ³¹	56 (a)	OneToOne	GL343346.1:665827-681383
zebrafish (Danio rerio)	Actinopterygii	psmf1 ³¹ ³⁰	56.09 (n)	OneToOne	6:51747115-51761914 436820 NM_001002547.2 NP_001002547.2
African malaria mosquito (Anopheles gambiae)	Insecta	AgaP_AGAP007418 ³⁰	43.97 (n)		1269770 XM_308420.3 XP_308420.3
fruit fly (Drosophila melanogaster)	Insecta	PI31 ³⁰	42.47 (n)		36277 NM_165855.2 NP_725093.1

Species where no ortholog for PSMF1 was found in the sources mined by GeneCards:

A. gosspyii yeast (Ashbya 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 squirt (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	Type
724436	Likely Benign: not provided	1,135,221(+)	C/T	MISSENSE_VARIANT
732687	Benign: not provided	1,125,500(+)	G/A	SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
743026	Likely Benign: not provided	1,163,148(+)	G/A	SYNONYMOUS_VARIANT
785834	Benign: not provided	1,163,153(+)	T/C	MISSENSE_VARIANT
rs1803415	-		p.Phe36Cys

Additional dbSNP identifiers (rs#s) for PSMF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PSMF1 Gene

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

Variation tolerance for PSMF1 Gene

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 Assay Products

Applied Biosystems by Thermo Fisher Scientific TaqMan® Assays for PSMF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMF1 Gene

Disorders for PSMF1 Gene

(2) MalaCards diseases for PSMF1 Gene - From: DISEASES

Disorder	Aliases	PubMed IDs
parkinson disease 15, autosomal recessive early-onset	pps
inclusion body myopathy with paget disease of bone and frontotemporal dementia	muscular dystrophy, limb-girdle, with paget disease of bone

- elite association - COSMIC cancer census association via MalaCards

Search PSMF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PSMF1

Genetic Association Database: (GAD)
: ATLAS of Genetics and Cytogenetics in Oncology and Haematology

Search disorders for PSMF1 gene in PubMed and other databases

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 … McDonald NQ (The Journal of biological chemistry 2008) ³ ⁴ ⁵⁴
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) ³ ⁴ ⁵⁴
The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) ³ ⁴ ⁵⁴
cDNA cloning, expression, and functional characterization of PI31, a proline-rich inhibitor of the proteasome. (PMID: 10764772) McCutchen-Maloney SL … DeMartino GN (The Journal of biological chemistry 2000) ³ ⁴ ⁵⁴
The proteasome-dependent proteolytic system. (PMID: 10363639) Tanahashi N … Tanaka K (Molecular biology reports 1999) ² ³ ⁵⁴