Aliases for PSMA6 Gene
Aliases for PSMA6 Gene
External Ids for PSMA6 Gene
- HGNC: 9535
- Entrez Gene: 5687
- Ensembl: ENSG00000100902
- OMIM: 602855
- UniProtKB: P60900
Previous GeneCards Identifiers for PSMA6 Gene
- GC14P033139
- GC14P029548
- GC14P033751
- GC14P034832
- GC14P035761
- GC14P015875
- GC14P035747
Summaries for PSMA6 Gene
-
The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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. 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 member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple transcript variants encoding several different isoforms have been found for this gene. A pseudogene has been identified on the Y chromosome. [provided by RefSeq, Aug 2013]
GeneCards Summary for PSMA6 Gene
PSMA6 (Proteasome Subunit Alpha 6) is a Protein Coding gene. Diseases associated with PSMA6 include Myocardial Infarction and Clostridium Difficile Colitis. Among its related pathways are Cell Cycle, Mitotic and RET signaling. Gene Ontology (GO) annotations related to this gene include RNA binding and NF-kappaB binding.
UniProtKB/Swiss-Prot for PSMA6 Gene
-
Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex).
Additional gene information for PSMA6 Gene
- Monarch Initiative
- Search for PSMA6 at DataMed
- Search for PSMA6 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSMA6 Gene
Genomics for PSMA6 Gene
GeneHancer (GH) Regulatory Elements for PSMA6 Gene
Promoters and enhancers for PSMA6 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH14J035291 | Promoter/Enhancer | 2.3 | EPDnew Ensembl ENCODE dbSUPER | 661.5 | +14.9 | 14854 | 5.5 | HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 | PSMA6 GC14P035292 GC14P035293 PPP2R3C EAPP RPS19P3 NFKBIA FAM177A1 KIAA0391 RALGAPA1 | |
| GH14J035278 | Promoter | 0.5 | EPDnew | 650.7 | +0.1 | 56 | 0.1 | PSMA6 GC14P035292 GC14P035293 ENSG00000258790 | ||
| GH14J035277 | Enhancer | 0.4 | dbSUPER | 650.7 | -0.9 | -887 | 1.2 | FOXA2 PRDM10 FOS | PSMA6 PPP2R3C FAM177A1 GC14P035263 KIAA0391 ENSG00000258790 | |
| GH14J035276 | Enhancer | 0.2 | dbSUPER | 657.4 | -2.0 | -1992 | 0.9 | PSMA6 GC14P035263 ENSG00000258790 KIAA0391 | ||
| GH14J035330 | Enhancer | 1.8 | FANTOM5 Ensembl ENCODE dbSUPER | 52.1 | +58.4 | 58382 | 12.3 | PKNOX1 FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 YY1 SLC30A9 | GC14P035335 PSMA6 NFKBIA BAZ1A PPP2R3C EAPP FAM177A1 RPS19P3 SPTSSA KIAA0391 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around PSMA6 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PSMA6 gene promoter:
-
- AP-1
- c-Jun
- ATF-2
- ER-alpha
- GR
- GR-alpha
- GR-beta
- Bach2
- AML1a
- Elk-1
Regulatory Element Products
Genomic Locations for PSMA6 Gene
Genomic Locations for PSMA6 Gene
- chr14:35,278,558-35,317,493
- (GRCh38/hg38)
- Size:
- 38,936 bases
- Orientation:
- Plus strand
- chr14:35,747,839-35,786,699
- (GRCh37/hg19)
- Size:
- 38,861 bases
- Orientation:
- Plus strand
Genomic View for PSMA6 Gene
Genes around PSMA6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q13.2 by Entrez Gene
- 14q13.2 by HGNC
- 14q13.2 by Ensembl
PSMA6 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 PSMA6 Gene
Proteins for PSMA6 Gene
-
Protein details for PSMA6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P60900-PSA6_HUMAN
- Recommended name:
- Proteasome subunit alpha type-6
- Protein Accession:
- P60900
- B2R7J9
- B4DQR4
- B4DXJ9
- P34062
- Q6IB60
Protein attributes for PSMA6 Gene
- Size:
- 246 amino acids
- Molecular mass:
- 27399 Da
- Quaternary structure:
-
- The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is a barrel-shaped complex made of 28 subunits that are arranged in four stacked rings. The two outer rings are each formed by seven alpha subunits, and the two inner rings are formed by seven beta subunits. The proteolytic activity is exerted by three beta-subunits PSMB5, PSMB6 and PSMB7. Interacts with ALKBH4 (PubMed:23145062).
Three dimensional structures from OCA and Proteopedia for PSMA6 Gene
Protein Expression for PSMA6 Gene
Post-translational modifications for PSMA6 Gene
Other Protein References for PSMA6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for PSMA6
-
Abcam antibodies for PSMA6
- Invitrogen Antibodies for PSMA6 (AFLGC-PSMA6)
- GeneTex PSMA6 Antibody for PSMA6
-
Boster Bio Antibodies for PSMA6
-
Santa Cruz Biotechnology (SCBT) Antibodies for PSMA6
Protein Products
-
OriGene Purified Proteins for PSMA6
- Search Origene for MassSpec and Protein Over-expression Lysates for PSMA6
- Origene Custom Protein Services for PSMA6
- ProSpec Recombinant Proteins for PSMA6
- Search GeneTex for Proteins for PSMA6
-
Abcam proteins for PSMA6
Assay Products
No data available for DME Specific Peptides for PSMA6 Gene
Domains & Families for PSMA6 Gene
Gene Families for PSMA6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for PSMA6 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for PSMA6 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P60900- Family:
-
- Belongs to the peptidase T1A family.
Function for PSMA6 Gene
Molecular function for PSMA6 Gene
- UniProtKB/Swiss-Prot Function:
- Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Cleavage of peptide bonds with very broad specificity.
- GENATLAS Biochemistry:
- multicatalytic proteinase complex (20S) proteasome (prosome,macropain) component,alpha type 6,subunit Pros27 (Iota),27.3 kDa
Enzyme Numbers (IUBMB) for PSMA6 Gene
Phenotypes From GWAS Catalog for PSMA6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | IDA,NAS | 7681138 |
| GO:0004175 | endopeptidase activity | NAS,IEA | 7681138 |
| GO:0004298 | threonine-type endopeptidase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 14733938 |
| GO:0008233 | peptidase activity | IEA | -- |
Phenotypes for PSMA6 Gene
- GenomeRNAi human phenotypes for PSMA6:
-
- Decreased shRNA abundance (Z-score < -2)
- G0/1 arrest
- Increased G1 DNA content
- Increased shRNA abundance (Z-score > 2)
- Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- Reduced mammosphere formation
- Decreased ionizing radiation sensitivity
- Decreased shRNA abundance
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased viability with paclitaxel
- Synthetic lethal with Ras
- Downregulation of NFkappaB pathway
- Nuclear 60S biogenesis defects
- shRNA abundance <= 50%
- Increased viability
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- FOXO1 nuclear localization
- HIV Rev nuclear localization
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PSMA6
-
CRISPR Products
-
OriGene CRISPR knockouts for PSMA6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PSMA6
- genomics-online: gRNA clones - Search results for available PSMA6 gene related products
- Applied Biological Materials CRISPR for PSMA6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PSMA6
- GenScript: Design CRISPR guide RNA sequences for PSMA6
miRNA for PSMA6 Gene
- miRTarBase miRNAs that target PSMA6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PSMA6
- Browse OriGene Inhibitory RNA Products For PSMA6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMA6
- genomics-online: shRNA clones - Search results for available PSMA6 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PSMA6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PSMA6
- genomics-online: cdna clones - Search results for available PSMA6 gene related products
- orf clones - Search results for available PSMA6 gene related products
- Applied Biological Materials Clones for PSMA6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PSMA6
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSMA6 Gene
Localization for PSMA6 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PSMA6 Gene
- Cytoplasm. Nucleus. Note=Colocalizes with TRIM5 in cytoplasmic bodies. {ECO:0000250 UniProtKB:P60900}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| endosome | 2 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000502 | proteasome complex | IDA,IEA | 17323924 |
| GO:0000932 | P-body | ISS | -- |
| GO:0005634 | nucleus | IEA,IDA | 7681138 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IEA,IBA | -- |
Pathways & Interactions for PSMA6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | CDK-mediated phosphorylation and removal of Cdc6 |
.93
.93
|
.80
.78
.78
.70
.47
.31
|
| 2 | RET signaling |
.92
|
.92
|
| 3 | Chks in Checkpoint Regulation | ||
| 4 | HIV Life Cycle |
.64
|
.45
|
| 5 | Class I MHC mediated antigen processing and presentation | ||
Pathways by source for PSMA6 Gene
1 Sino Biological pathway for PSMA6 Gene
1 BioSystems pathway for PSMA6 Gene
1 KEGG pathway for PSMA6 Gene
4 GeneGo (Thomson Reuters) pathways for PSMA6 Gene
17 Qiagen pathways for PSMA6 Gene
Interacting Proteins for PSMA6 Gene
Selected Interacting proteins:
P60900-PSA6_HUMAN
ENSP00000261479
for PSMA6 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PSMA6
| 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:0006508 | proteolysis | IEA | -- |
No data available for SIGNOR curated interactions for PSMA6 Gene
Drugs & Compounds for PSMA6 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Bortezomib | Approved, Investigational | Pharma | inhibitor, other | Proteosome and NF-kappaB inhibitor, Other, Proteasome inhibitors | 826 | |
| carfilzomib | Approved, Investigational | Pharma | other, Inhibitor | Other, 20S Proteasome Inhibitor | 0 | |
| (3AR,6R,6AS)-6-((S)-((S)-CYCLOHEX-2-ENYL)(HYDROXY)METHYL)-6A-METHYL-4-OXO-HEXAHYDRO-2H-FURO[3,2-C]PYRROLE-6-CARBALDEHYDE | Experimental | Pharma | Target | 0 |
Drug Products
Transcripts for PSMA6 Gene
mRNA/cDNA for PSMA6 Gene
- (5) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (971) Selected AceView cDNA sequences:
- (17) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000540871 912 bps (uc032ayo.2)
- ENST00000554541 925 bps (uc059aup.1)
- ENST00000261479 1029 bps (uc001wtd.5)
- ENST00000554843 655 bps (uc059auq.1)
- ENST00000554620 790 bps (uc059aur.1)
Unigene Clusters for PSMA6 Gene
- Proteasome (prosome, macropain) subunit, alpha type, 6:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for PSMA6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PSMA6
- genomics-online: gRNA clones - Search results for available PSMA6 gene related products
- Applied Biological Materials CRISPR for PSMA6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PSMA6
- GenScript: Design CRISPR guide RNA sequences for PSMA6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PSMA6
- Browse OriGene Inhibitory RNA Products For PSMA6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMA6
- genomics-online: shRNA clones - Search results for available PSMA6 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PSMA6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PSMA6
- genomics-online: cdna clones - Search results for available PSMA6 gene related products
- orf clones - Search results for available PSMA6 gene related products
- Applied Biological Materials Clones for PSMA6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for PSMA6 Gene
mRNA differential expression in normal tissues according to GTEx for PSMA6 Gene
This gene is overexpressed in Muscle - Skeletal (x4.1).
This gene is overexpressed in Peripheral blood mononuclear cells (6.8) and Liver, secretome (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PSMA6 Gene
NURSA nuclear receptor signaling pathways regulating expression of PSMA6 Gene:
PSMA6SOURCE GeneReport for Unigene cluster for PSMA6 Gene:
Hs.446260Evidence on tissue expression from TISSUES for PSMA6 Gene
- Nervous system(4.8)
- Skin(4.7)
- Muscle(4.6)
- Liver(4.5)
- Lung(4.3)
- Blood(3.2)
- Intestine(3)
- Eye(2.8)
- Kidney(2.6)
- Heart(2.5)
- Thyroid gland(2.5)
Primer Products
-
OriGene qPCR primer pairs for PSMA6
-
OriGene qPCR primer pairs and template standards for PSMA6
- genomics-online: primer clones - Search results for available PSMA6 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSMA6 Gene
Orthologs for PSMA6 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PSMA6 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | PSMA6 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PSMA6 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PSMA6 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PSMA6 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Psma6 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Psma6 16 34 33 |
|
||
| chicken (Gallus gallus) |
Aves | PSMA6 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PSMA6 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | psma6 33 |
|
||
| MGC76321 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.15878 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | psma6b 34 |
|
OneToMany | |
| psma6a 34 33 |
|
OneToMany | |||
| zgc:92716 33 |
|
||||
| psma6l 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG30382 34 |
|
OneToMany | |
| Prosalpha6 35 |
|
|
|||
| Prosalpha1 34 33 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003935 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | pas-1 34 33 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SCL1 36 34 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A05027g 33 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AGL089W 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | PAA1 33 |
|
||
| soybean (Glycine max) |
eudicotyledons | Gma.17539 33 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.7441 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0180400 33 |
|
||
| Os.3704 33 |
|
||||
| barley (Hordeum vulgare) |
Liliopsida | Hv.6366 33 |
|
||
| wheat (Triticum aestivum) |
Liliopsida | Ta.6475 33 |
|
||
| corn (Zea mays) |
Liliopsida | Zm.3422 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8137 34 |
|
OneToOne | |
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPBC646.16 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU10061 33 |
|
- Species where no ortholog for PSMA6 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
Evolution for PSMA6 Gene
- ENSEMBL:
- Gene Tree for PSMA6 (if available)
- TreeFam:
- Gene Tree for PSMA6 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PSMA6: view image
Paralogs for PSMA6 Gene
(8) SIMAP similar genes for PSMA6 Gene using alignment to 11 proteins:
- PSA6_HUMAN
- B4DQR4_HUMAN
- B4DXJ9_HUMAN
- G3V295_HUMAN
- G3V2S7_HUMAN
- G3V3I1_HUMAN
- G3V3U4_HUMAN
- G3V4S5_HUMAN
- G3V5Z7_HUMAN
- H0YJC4_HUMAN
- Q9BZ93_HUMAN
Pseudogenes.org Pseudogenes for PSMA6 Gene
No data available for Paralogs for PSMA6 Gene
Variants for PSMA6 Gene
| SNP ID | Clin | Chr 14 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1048990 | risk-factor, Myocardial infarction | 35,292,469(+) | C/G/T | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, upstream_transcript_variant | |
| rs1000166711 | -- | 35,308,491(+) | A/G | intron_variant | |
| rs1000196977 | -- | 35,317,094(+) | G/A/C | intron_variant | |
| rs1000231571 | -- | 35,298,264(+) | T/C | intron_variant | |
| rs1000270441 | -- | 35,316,711(+) | G/C | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1868n100 | CNV | gain | 25217958 |
| dgv1869n100 | CNV | gain | 25217958 |
| esv2661597 | CNV | deletion | 23128226 |
| esv3584260 | CNV | gain | 25503493 |
| nsv1134369 | CNV | deletion | 24896259 |
| nsv456205 | CNV | loss | 19166990 |
| nsv564318 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
34.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.06;
1.26% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PSMA6 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMA6 Gene
Disorders for PSMA6 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myocardial infarction |
|
|
| clostridium difficile colitis |
|
|
| craniometaphyseal dysplasia, autosomal dominant |
|
|
Search PSMA6 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PSMA6
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for PSMA6 Gene
Publications for PSMA6 Gene
- The prosomal RNA-binding protein p27K is a member of the alpha-type human prosomal gene family. (PMID: 7681138) Bey F … Scherrer K (Molecular & general genetics : MGG 1993) 3 4 22 58
- The primary structures of four subunits of the human, high-molecular-weight proteinase, macropain (proteasome), are distinct but homologous. (PMID: 1888762) DeMartino GN … Slaughter CA (Biochimica et biophysica acta 1991) 2 3 4 58
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
- Genome-wide association analysis identifies three psoriasis susceptibility loci. (PMID: 20953189) Stuart PE … Elder JT (Nature genetics 2010) 3 44 58
- The G-Allele of the PSMA6-8C>G polymorphism is associated with poor outcome in multiple myeloma independently of circulating proteasome serum levels. (PMID: 20408869) Bachmann HS … Nückel H (European journal of haematology 2010) 3 44 58
Products for PSMA6 Gene
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- Custom Antibody ServicesOriGene Antibodies for PSMA6
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- antibodies-online: Search results for 54 available PSMA6 Antibodies ranked by validation data
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- GeneTex PSMA6 Antibody for PSMA6
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