Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PSMA6 Gene

Aliases for PSMA6 Gene

  • Proteasome Subunit Alpha 6 2 3 5
  • Proteasome (Prosome, Macropain) Subunit, Alpha Type, 6 2 3
  • Multicatalytic Endopeptidase Complex Iota Chain 3 4
  • 27 KDa Prosomal Protein 3 4
  • Proteasome Iota Chain 3 4
  • Macropain Iota Chain 3 4
  • EC 3.4.25.1 4 61
  • PROS-27 3 4
  • PROS27 3 4
  • P27K 3 4
  • Testicular Secretory Protein Li 44 3
  • Proteasome Subunit Alpha Type-6 3
  • Proteasome Subunit Iota 3
  • Macropain Subunit Iota 3
  • Prosomal P27K Protein 3
  • IOTA 3

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 Subunit Alpha 6) is a Protein Coding gene. Diseases associated with PSMA6 include Myocardial Infarction and Clostridium Difficile Colitis. Among its related pathways are RET signaling and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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).

Gene Wiki entry for PSMA6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSMA6 Gene

Genomics for PSMA6 Gene

Regulatory Elements for PSMA6 Gene

Enhancers for PSMA6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G035330 2.1 FANTOM5 Ensembl ENCODE dbSUPER 52.1 +58.4 58383 12.3 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 PSMA6 NFKBIA EAPP RPS19P3 PPP2R3C BAZ1A FAM177A1 SRP54 QRSL1P3 LOC644584
GH14G035158 1.6 FANTOM5 Ensembl ENCODE 42 -118.1 -118115 3.7 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 SLC30A9 GATA2 FOS MXD4 PSMA6 PPP2R3C FAM177A1 SRP54-AS1 SEPT7P1 MRPL57P8
GH14G035364 2.1 FANTOM5 Ensembl ENCODE dbSUPER 27 +88.9 88926 6.4 PKNOX1 FOXA2 MLX ZFP64 ARID4B DMAP1 SLC30A9 ZNF766 FOS SP5 NFKBIA PSMA6 BAZ1A EAPP PPP2R3C RPS19P3 FAM177A1 RALGAPA1 SRP54 ENSG00000258860
GH14G035299 1.1 Ensembl ENCODE dbSUPER 46.3 +22.3 22349 3.0 HNRNPUL1 SRF PKNOX1 FOXA2 FUS ATF2 FOXA1 HDAC2 ZNF18 RBFOX2 PSMA6 FAM177A1 PPP2R3C GC14P035292 GC14P035293 GC14P035312
GH14G035346 1.5 Ensembl ENCODE dbSUPER 32 +68.9 68909 1.3 ATF1 FOXA2 MLX ARID4B DMAP1 ZNF48 TCF12 SLC30A9 CAVIN1 SP5 PSMA6 PPP2R3C NFKBIA FAM177A1 GC14P035335 ENSG00000258860
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PSMA6 on UCSC Golden Path with GeneCards custom track

Genomic Location for PSMA6 Gene

Chromosome:
14
Start:
35,278,558 bp from pter
End:
35,317,493 bp from pter
Size:
38,936 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

  • Ubiquitination at Lys30, Lys45, isoforms=255, Lys59, Lys102, Lys104, isoforms=2, 3116, Lys164, Lys171, and isoforms=2, 3181
  • Glycosylation at Ser5
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PSMA6 (PSMA6)

Domains & Families for PSMA6 Gene

Gene Families for PSMA6 Gene

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

GENATLAS Biochemistry:
multicatalytic proteinase complex (20S) proteasome (prosome,macropain) component,alpha type 6,subunit Pros27 (Iota),27.3 kDa
UniProtKB/Swiss-Prot CatalyticActivity:
Cleavage of peptide bonds with very broad specificity.
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).

Enzyme Numbers (IUBMB) 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,IEA 7681138
GO:0004298 threonine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 14733938
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with PSMA6: view
genes like me logo Genes that share phenotypes with PSMA6: view

Animal Model Products

miRNA for PSMA6 Gene

miRTarBase miRNAs that target PSMA6

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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.

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
extracellular 5
nucleus 5
cytosol 5
plasma membrane 2
cytoskeleton 2
endosome 2
endoplasmic reticulum 1
golgi apparatus 1

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 IDA,IEA 7681138
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with PSMA6: view

Pathways & Interactions for PSMA6 Gene

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
4 HIV Life Cycle
.45
5 Class I MHC mediated antigen processing and presentation
genes like me logo Genes that share pathways with PSMA6: view

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:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with PSMA6: view

No data available for SIGNOR curated interactions for PSMA6 Gene

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 807
carfilzomib Approved 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

Unigene Clusters for PSMA6 Gene

Proteasome (prosome, macropain) subunit, alpha type, 6:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for PSMA6 Gene

GeneLoc Exon Structure for
PSMA6
ECgene alternative splicing isoforms for
PSMA6

Expression for PSMA6 Gene

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

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, PaxDb, MaxQB, and MOPED for PSMA6 Gene



Protein tissue co-expression partners for PSMA6 Gene

NURSA nuclear receptor signaling pathways regulating expression of PSMA6 Gene:

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)
  • 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)
genes like me logo Genes that share expression patterns with PSMA6: view

Primer 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.

Orthologs for PSMA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSMA6 34 35
  • 99.59 (n)
oppossum
(Monodelphis domestica)
Mammalia PSMA6 35
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PSMA6 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PSMA6 34 35
  • 96.61 (n)
cow
(Bos Taurus)
Mammalia PSMA6 34 35
  • 96.34 (n)
rat
(Rattus norvegicus)
Mammalia Psma6 34
  • 94.31 (n)
mouse
(Mus musculus)
Mammalia Psma6 34 16 35
  • 93.63 (n)
chicken
(Gallus gallus)
Aves PSMA6 34 35
  • 86.99 (n)
lizard
(Anolis carolinensis)
Reptilia PSMA6 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psma6 34
  • 80.76 (n)
MGC76321 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15878 34
zebrafish
(Danio rerio)
Actinopterygii psma6b 35
  • 91 (a)
OneToMany
psma6a 34 35
  • 90 (a)
zgc:92716 34
  • 77.91 (n)
psma6l 35
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Prosalpha1 35
  • 67 (a)
OneToMany
Prosalpha6 36
  • 64 (a)
CG30382 34 35
  • 60.38 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003935 34
  • 64.5 (n)
worm
(Caenorhabditis elegans)
Secernentea pas-1 34 35
  • 56.37 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCL1 34 35 37
  • 58.09 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A05027g 34
  • 55.14 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL089W 34
  • 54.03 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PAA1 34
  • 61.25 (n)
soybean
(Glycine max)
eudicotyledons Gma.17539 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7441 34
rice
(Oryza sativa)
Liliopsida Os03g0180400 34
  • 60.43 (n)
Os.3704 34
barley
(Hordeum vulgare)
Liliopsida Hv.6366 34
wheat
(Triticum aestivum)
Liliopsida Ta.6475 34
corn
(Zea mays)
Liliopsida Zm.3422 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8137 35
  • 74 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC646.16 34
  • 59.38 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU10061 34
  • 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 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)

Paralogs for PSMA6 Gene

No data available for Paralogs for PSMA6 Gene

Variants for PSMA6 Gene

Sequence variations from dbSNP and Humsavar for PSMA6 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1048990 other 35,292,469(+) TGCTT(C/G/T)TACCA intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000166711 -- 35,308,491(+) TATAT(A/G)CAAAT intron-variant
rs1000196977 -- 35,317,094(+) GATAA(A/C/G)TGTGT intron-variant
rs1000231571 -- 35,298,264(+) GCAGG(C/T)GGATA intron-variant
rs1000270441 -- 35,316,711(+) AAATA(C/G)AAAAA intron-variant

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)

Relevant External Links for PSMA6 Gene

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

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

Disorders for PSMA6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PSMA6 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myocardial infarction
  • myocardial infarction, protection against
clostridium difficile colitis
  • pseudomembranous colitis
craniometaphyseal dysplasia
  • craniometaphyseal dysplasia, autosomal dominant
retinitis pigmentosa 10
  • rp10
- elite association - COSMIC cancer census association via MalaCards
Search PSMA6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PSMA6

Genetic Association Database (GAD)
PSMA6
Human Genome Epidemiology (HuGE) Navigator
PSMA6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSMA6
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. The prosomal RNA-binding protein p27K is a member of the alpha-type human prosomal gene family. (PMID: 7681138) Bey F. … Scherrer K. (Mol. Gen. Genet. 1993) 3 4 22 64
  2. The primary structures of four subunits of the human, high-molecular- weight proteinase, macropain (proteasome), are distinct but homologous. (PMID: 1888762) DeMartino G.N. … Slaughter C.A. (Biochim. Biophys. Acta 1991) 2 3 4 64
  3. 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. 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 H.S. … NA1ckel H. (Eur. J. Haematol. 2010) 3 46 64
  5. Genome-wide association analysis identifies three psoriasis susceptibility loci. (PMID: 20953189) Stuart P.E. … Elder J.T. (Nat. Genet. 2010) 3 46 64

Products for PSMA6 Gene