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/ubiq... See more...

Aliases for PSMA6 Gene

Aliases for PSMA6 Gene

  • Proteasome 20S Subunit Alpha 6 2 3 5
  • PROS27 2 3 4
  • P27K 2 3 4
  • Proteasome (Prosome, Macropain) Subunit, Alpha Type, 6 2 3
  • Multicatalytic Endopeptidase Complex Iota Chain 3 4
  • Proteasome Subunit Alpha Type-6 3 4
  • Proteasome Subunit Alpha 6 2 3
  • 27 KDa Prosomal Protein 3 4
  • Proteasome Iota Chain 3 4
  • Macropain Iota Chain 3 4
  • PROS-27 3 4
  • IOTA 2 3
  • Testicular Secretory Protein Li 44 3
  • Proteasome Subunit Alpha1 3
  • Proteasome Subunit Iota 3
  • Macropain Subunit Iota 3
  • Proteasome Subunit Α1 2
  • Prosomal P27K Protein 3
  • EC 3.4.25.1 51
  • MGC22756 2
  • MGC23846 2
  • MGC2333 2
  • PSMA6 5

External Ids for PSMA6 Gene

Previous GeneCards Identifiers for PSMA6 Gene

  • GC14P033139
  • GC14P029548
  • GC14P033751
  • GC14P034832
  • GC14P035761
  • GC14P015875
  • GC14P035747

Summaries for PSMA6 Gene

Entrez Gene Summary 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 20S Subunit Alpha 6) is a Protein Coding gene. Diseases associated with PSMA6 include Myocardial Infarction and Cystic Fibrosis. 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 RNA binding and NF-kappaB binding. An important paralog of this gene is PSMA7.

UniProtKB/Swiss-Prot Summary 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).

Gene Wiki entry for PSMA6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PSMA6 Gene

Genomics for PSMA6 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 261.5 +14.9 14854 5.5 CHD2 TBP SP1 MXD4 CEBPA NR2C1 MNT SMAD5 ETS1 IRF2 PSMA6 HSALNG0100570 RPS19P3 PPP2R3C EAPP RALGAPA1 FAM177A1 SRP54-AS1 PRORP HSALNG0100571
GH14J035277 Enhancer 0.4 dbSUPER 250.7 -0.9 -887 1.2 FOXA2 RBM22 FOS PRDM10 HSALNG0100569 PSMA6 PPP2R3C FAM177A1 lnc-KIAA0391-3 ENSG00000258790 PRORP
GH14J035330 Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 52.1 +58.4 58382 12.3 CHD2 MXD4 CEBPA ZNF217 DEK IKZF1 ZFP64 BRCA1 ELF1 ZIC2 lnc-PSMA6-4 piR-35674-134 PSMA6 NFKBIA PPP2R3C BAZ1A RPS19P3 EAPP FAM177A1 SRP54-AS1
GH14J035278 Promoter 0.3 EPDnew 250.7 +0.1 56 0.1 HSALNG0100569 PSMA6 HSALNG0100570 lnc-KIAA0391-3 NFKBIA ENSG00000258790
GH14J035276 Enhancer 0.3 dbSUPER 257.3 -2.0 -1992 0.9 RBM22 PSMA6 HSALNG0100569 HSALNG0100568 lnc-KIAA0391-3 ENSG00000258790 PPP2R3C PRORP
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSMA6

Top Transcription factor binding sites by QIAGEN in the PSMA6 gene promoter:
  • AML1a
  • AP-1
  • ATF-2
  • Bach2
  • c-Jun
  • Elk-1
  • ER-alpha
  • GR
  • GR-alpha
  • GR-beta

Genomic Locations for PSMA6 Gene

Latest Assembly
chr14:35,278,558-35,317,493
(GRCh38/hg38)
Size:
38,936 bases
Orientation:
Plus strand

Previous Assembly
chr14:35,747,764-35,786,699
(GRCh37/hg19 by Entrez Gene)
Size:
38,936 bases
Orientation:
Plus strand

chr14:35,747,839-35,786,699
(GRCh37/hg19 by Ensembl)
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:
PSMA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSMA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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

    Alternative splice isoforms for PSMA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSMA6 Gene

Selected DME Specific Peptides for PSMA6 Gene

P60900:
  • ADSRSQVQ
  • IGCVMTG
  • TIFSPEGR
  • EIEVGVV
  • ARYEAAN
  • FSPEGRL
  • QVEYAFKA
  • VTQKKVPDKLLD
  • YTQNAEMR

Post-translational modifications for PSMA6 Gene

  • Glycosylation at Ser5
  • Ubiquitination at Lys102, Lys104, Lys45, Lys30, Lys55, Lys116, Lys59, Lys164, Lys171, and Lys181
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Boster Bio Antibodies for PSMA6

Domains & Families for PSMA6 Gene

Gene Families for PSMA6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PSMA6 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51729, highly similar to Proteasome subunit alpha type 6 (EC 3.4.25.1) (B4DXJ9_HUMAN)
  • Proteasome iota chain (PSA6_HUMAN)
  • Prosomal P27K protein (Q9BZ93_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P60900

UniProtKB/Swiss-Prot:

PSA6_HUMAN :
  • Belongs to the peptidase T1A family.
Family:
  • Belongs to the peptidase T1A family.
genes like me logo Genes that share domains with PSMA6: view

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).
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

Gene Ontology (GO) - Molecular Function for PSMA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,NAS 7681138
GO:0004175 endopeptidase activity NAS 7681138
GO:0005515 protein binding IPI 14733938
GO:0035639 purine ribonucleoside triphosphate binding NAS 7681138
GO:0051059 NF-kappaB binding IPI 14743216
genes like me logo Genes that share ontologies with PSMA6: view
genes like me logo Genes that share phenotypes with PSMA6: view

miRNA for PSMA6 Gene

miRTarBase miRNAs that target PSMA6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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:Q9QUM9}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PSMA6 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PSMA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex IEA,IDA 17323924
GO:0000932 P-body ISS --
GO:0005634 nucleus IEA,IDA 7681138
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IBA 21873635
genes like me logo Genes that share ontologies with PSMA6: view

Pathways & Interactions for PSMA6 Gene

PathCards logo

SuperPathways for PSMA6 Gene

SuperPathway Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
.78
.31
2 RET signaling
3 Chks in Checkpoint Regulation
.59
.59
.55
.43
.32
.31
4 HIV Life Cycle
.45
5 Pathways of neurodegeneration - multiple diseases
genes like me logo Genes that share pathways with PSMA6: view

Pathways by source for PSMA6 Gene

4 GeneGo (Thomson Reuters) pathways for PSMA6 Gene
  • Immune response Antigen presentation by MHC class I
  • Regulation of degradation of deltaF508 CFTR in CF
  • Regulation of degradation of wt-CFTR
  • Transcription Ligand-Dependent Transcription of Retinoid-Target genes
17 Qiagen pathways for PSMA6 Gene
  • CDK5 Pathway
  • Chks in Checkpoint Regulation
  • DNA Repair Mechanisms
  • Estrogen-mediated S-Phase Entry
  • G2-M Phase Transition

SIGNOR curated interactions for PSMA6 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for PSMA6 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 IEA --
genes like me logo Genes that share ontologies with PSMA6: view

Drugs & Compounds for PSMA6 Gene

(3) Drugs for PSMA6 Gene - From: DrugBank and DGIdb

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 926
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
genes like me logo Genes that share compounds with PSMA6: view

Transcripts for PSMA6 Gene

mRNA/cDNA for PSMA6 Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMA6

Alternative Splicing Database (ASD) splice patterns (SP) for PSMA6 Gene

No ASD Table

Relevant External Links for PSMA6 Gene

GeneLoc Exon Structure for
PSMA6

Expression for PSMA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PSMA6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for PSMA6 Gene

This gene is overexpressed in Muscle - Skeletal (x4.1).

Protein differential expression in normal tissues from HIPED for PSMA6 Gene

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



Protein tissue co-expression partners for PSMA6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PSMA6

SOURCE GeneReport for Unigene cluster for PSMA6 Gene:

Hs.446260

Evidence on tissue expression from TISSUES for PSMA6 Gene

  • Nervous system(4.8)
  • Skin(4.7)
  • Liver(4.6)
  • Muscle(4.5)
  • Lung(4.3)
  • Blood(3.2)
  • Thyroid gland(2.8)
  • Intestine(2.6)
  • Heart(2.5)
  • Kidney(2.3)
  • Spleen(2.3)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with PSMA6: view

No data available for 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.

Orthologs for PSMA6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PSMA6 30 31
  • 99.59 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PSMA6 31
  • 98 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PSMA6 31
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia PSMA6 30 31
  • 96.61 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PSMA6 30 31
  • 96.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Psma6 30
  • 94.31 (n)
Mouse
(Mus musculus)
Mammalia Psma6 30 17 31
  • 93.63 (n)
OneToOne
Chicken
(Gallus gallus)
Aves PSMA6 30 31
  • 86.99 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PSMA6 31
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia psma6 30
  • 80.76 (n)
MGC76321 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15878 30
Zebrafish
(Danio rerio)
Actinopterygii psma6b 31
  • 91 (a)
OneToMany
psma6a 30 31
  • 90 (a)
OneToMany
zgc:92716 30
  • 77.91 (n)
psma6l 31
  • 69 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Prosalpha1 31
  • 67 (a)
OneToMany
Prosalpha6 32
  • 64 (a)
CG30382 30 31
  • 60.38 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003935 30
  • 64.5 (n)
Worm
(Caenorhabditis elegans)
Secernentea pas-1 30 31
  • 56.37 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCL1 30 31 33
  • 58.09 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A05027g 30
  • 55.14 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGL089W 30
  • 54.03 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons PAA1 30
  • 61.25 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7441 30
Soybean
(Glycine max)
eudicotyledons Gma.17539 30
Rice
(Oryza sativa)
Liliopsida Os03g0180400 30
  • 60.43 (n)
Os.3704 30
Barley
(Hordeum vulgare)
Liliopsida Hv.6366 30
Wheat
(Triticum aestivum)
Liliopsida Ta.6475 30
Corn
(Zea mays)
Liliopsida Zm.3422 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8137 31
  • 74 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC646.16 30
  • 59.38 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU10061 30
  • 57.88 (n)
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 Vase (Ciona intestinalis)
  • 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
genes like me logo Genes that share paralogs with PSMA6: view

Variants for PSMA6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PSMA6 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs1048990 Risk Factor: Myocardial infarction 35,292,469(+) C/G
NM_002791.3(PSMA6):c.-8C>G
NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PSMA6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PSMA6 Gene

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

Variation tolerance for PSMA6 Gene

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

Human Gene Mutation Database (HGMD)
PSMA6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSMA6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMA6 Gene

Disorders for PSMA6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PSMA6 Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
myocardial infarction
  • myocardial infarction, susceptibility to
cystic fibrosis
  • cf
- elite association - COSMIC cancer census association via MalaCards
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
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PSMA6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PSMA6 Gene

Publications for PSMA6 Gene

  1. Replication studies for the association of PSMA6 polymorphism with coronary artery disease in East Asian populations. (PMID: 19282875) Hinohara K … Kimura A (Journal of human genetics 2009) 3 41 74
  2. 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 23
  3. 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
  4. An atomic structure of the human 26S proteasome. (PMID: 27428775) Huang X … Shi Y (Nature structural & molecular biology 2016) 3 4
  5. Human ALKBH4 interacts with proteins associated with transcription. (PMID: 23145062) Bjørnstad LG … Falnes PØ (PloS one 2012) 3 4

Products for PSMA6 Gene