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Aliases for PSMD6 Gene

Aliases for PSMD6 Gene

  • Proteasome 26S Subunit, Non-ATPase 6 2 3 5
  • Proteasome (Prosome, Macropain) 26S Subunit, Non-ATPase, 6 2 3
  • Proteasome Regulatory Particle Subunit P44S10 3 4
  • Phosphonoformate Immuno-Associated Protein 4 3 4
  • Breast Cancer-Associated Protein SGA-113M 3 4
  • P42A 3 4
  • 26S Proteasome Non-ATPase Regulatory Subunit 6 3
  • 26S Proteasome Regulatory Subunit RPN7 4
  • 26S Proteasome Regulatory Subunit S10 4
  • SGA-113M 3
  • KIAA0107 4
  • P44S10 3
  • PFAAP4 4
  • Rpn7 3
  • S10 3

External Ids for PSMD6 Gene

Previous GeneCards Identifiers for PSMD6 Gene

  • GC00U990286

Summaries for PSMD6 Gene

Entrez Gene Summary for PSMD6 Gene

  • This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]

GeneCards Summary for PSMD6 Gene

PSMD6 (Proteasome 26S Subunit, Non-ATPase 6) is a Protein Coding gene. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and RET signaling. GO annotations related to this gene include ATPase activity. An important paralog of this gene is GPS1.

UniProtKB/Swiss-Prot for PSMD6 Gene

  • Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.

Gene Wiki entry for PSMD6 Gene

Additional gene information for PSMD6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSMD6 Gene

Genomics for PSMD6 Gene

Regulatory Elements for PSMD6 Gene

Enhancers for PSMD6 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
GH03H064021 1.3 ENCODE dbSUPER 5.2 +1.0 1027 2 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF207 ATXN7 PSMD6-AS1 PSMD6-AS2 ENSG00000272181 PSMD6
GH03H064030 1.2 Ensembl ENCODE 4.8 -6.8 -6753 0 ELF3 RB1 ARID4B SIN3A ZNF2 RAD21 ETS1 ZNF143 ZNF207 ATF7 PSMD6 LOC105377121 GC03P064060
GH03H064148 1.6 FANTOM5 Ensembl ENCODE dbSUPER 2.6 -127.0 -126995 4 CTCF MXI1 FOXA2 ZNF76 SIN3A FEZF1 ZIC2 BCL11B GLIS2 POLR2A PRICKLE2-AS2 PSMD6 THOC7 PRDX3P4
GH03H064246 0.8 dbSUPER 4.5 -224.8 -224786 4 SOX13 PKNOX1 TFAP4 ZNF644 RARA ZNF7 ZKSCAN1 YY1 TEAD3 HNF4G PSMD6 GC03M064225 GC03M064399
GH03H064005 0.6 dbSUPER 4.6 +16.0 16008 4 MAFF ZNF316 POLR2A EMSY MAFK SUPT5H PSMD6-AS2 LOC100130345 ATXN7 THOC7 PSMD6 ENSG00000271843
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PSMD6 on UCSC Golden Path with GeneCards custom track

Promoters for PSMD6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000153640 710 1400 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF207

Genomic Location for PSMD6 Gene

Chromosome:
3
Start:
64,010,549 bp from pter
End:
64,024,010 bp from pter
Size:
13,462 bases
Orientation:
Minus strand

Genomic View for PSMD6 Gene

Genes around PSMD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSMD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSMD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSMD6 Gene

Proteins for PSMD6 Gene

  • Protein details for PSMD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15008-PSMD6_HUMAN
    Recommended name:
    26S proteasome non-ATPase regulatory subunit 6
    Protein Accession:
    Q15008
    Secondary Accessions:
    • A8K2E0
    • E9PHI9
    • Q6UV22

    Protein attributes for PSMD6 Gene

    Size:
    389 amino acids
    Molecular mass:
    45531 Da
    Quaternary structure:
    • Component of the 19S proteasome regulatory particle complex. The 26S proteasome consists of a 20S core particle (CP) and two 19S regulatory subunits (RP). The regulatory particle is made of a lid composed of 9 subunits including PSMD6, a base containing 6 ATPases and few additional components.

    Three dimensional structures from OCA and Proteopedia for PSMD6 Gene

    Alternative splice isoforms for PSMD6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSMD6 Gene

Post-translational modifications for PSMD6 Gene

  • Ubiquitination at isoforms=2, 3, 4362 and Lys372
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PSMD6 Gene

Domains & Families for PSMD6 Gene

Gene Families for PSMD6 Gene

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

Suggested Antigen Peptide Sequences for PSMD6 Gene

Graphical View of Domain Structure for InterPro Entry

Q15008

UniProtKB/Swiss-Prot:

PSMD6_HUMAN :
  • Belongs to the proteasome subunit S10 family.
Family:
  • Belongs to the proteasome subunit S10 family.
genes like me logo Genes that share domains with PSMD6: view

Function for PSMD6 Gene

Molecular function for PSMD6 Gene

UniProtKB/Swiss-Prot Function:
Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.

Phenotypes From GWAS Catalog for PSMD6 Gene

Gene Ontology (GO) - Molecular Function for PSMD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14743216
GO:0016887 ATPase activity NAS 10723133
GO:0030234 enzyme regulator activity IEA --
genes like me logo Genes that share ontologies with PSMD6: view
genes like me logo Genes that share phenotypes with PSMD6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PSMD6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSMD6 Gene

Localization for PSMD6 Gene

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 PSMD6 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
golgi apparatus 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PSMD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex IEA,IDA 17323924
GO:0005576 extracellular region TAS --
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
GO:0005838 proteasome regulatory particle IBA --
genes like me logo Genes that share ontologies with PSMD6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PSMD6 Gene

Pathways & Interactions for PSMD6 Gene

SuperPathways for PSMD6 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 PSMD6: view

Gene Ontology (GO) - Biological Process for PSMD6 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 NAS 10723133
genes like me logo Genes that share ontologies with PSMD6: view

No data available for SIGNOR curated interactions for PSMD6 Gene

Drugs & Compounds for PSMD6 Gene

(2) Drugs for PSMD6 Gene - From: 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 814
carfilzomib Approved Pharma other, Inhibitor Other, 20S Proteasome Inhibitor 0
genes like me logo Genes that share compounds with PSMD6: view

Transcripts for PSMD6 Gene

Unigene Clusters for PSMD6 Gene

Proteasome (prosome, macropain) 26S subunit, non-ATPase, 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PSMD6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PSMD6 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b
SP1: - - - -
SP2: - - - - - - - - -
SP3: - - - - -
SP4: - - -
SP5: - - - - -
SP6: - -
SP7: -
SP8: -
SP9:
SP10: - - - -
SP11:

Relevant External Links for PSMD6 Gene

GeneLoc Exon Structure for
PSMD6
ECgene alternative splicing isoforms for
PSMD6

Expression for PSMD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PSMD6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PSMD6 Gene

This gene is overexpressed in Pancreas (x4.4).

Protein differential expression in normal tissues from HIPED for PSMD6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PSMD6 Gene



Protein tissue co-expression partners for PSMD6 Gene

NURSA nuclear receptor signaling pathways regulating expression of PSMD6 Gene:

PSMD6

SOURCE GeneReport for Unigene cluster for PSMD6 Gene:

Hs.152536

Evidence on tissue expression from TISSUES for PSMD6 Gene

  • Nervous system(4.7)
  • Bone marrow(4.4)
  • Liver(4.3)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with PSMD6: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSMD6 Gene

Orthologs for PSMD6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PSMD6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSMD6 33 34
  • 99.74 (n)
oppossum
(Monodelphis domestica)
Mammalia PSMD6 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PSMD6 33 34
  • 91.6 (n)
dog
(Canis familiaris)
Mammalia PSMD6 33 34
  • 91.09 (n)
rat
(Rattus norvegicus)
Mammalia Psmd6 33
  • 89.46 (n)
mouse
(Mus musculus)
Mammalia Psmd6 33 16 34
  • 89.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PSMD6 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves PSMD6 33 34
  • 82.78 (n)
lizard
(Anolis carolinensis)
Reptilia PSMD6 34
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psmd6 33
  • 78.06 (n)
MGC76241 33
zebrafish
(Danio rerio)
Actinopterygii psmd6 33 34
  • 75.22 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Rpn7 33 34
  • 63.15 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002061 33
  • 61.95 (n)
worm
(Caenorhabditis elegans)
Secernentea rpn-7 33 34
  • 55.15 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPN7 34 36
  • 33 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G24820 33
  • 57.38 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3520 33
rice
(Oryza sativa)
Liliopsida Os04g0485000 33
  • 55.56 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.6157 33
wheat
(Triticum aestivum)
Liliopsida Ta.5635 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6338 34
  • 69 (a)
OneToOne
Species where no ortholog for PSMD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PSMD6 Gene

ENSEMBL:
Gene Tree for PSMD6 (if available)
TreeFam:
Gene Tree for PSMD6 (if available)

Paralogs for PSMD6 Gene

Paralogs for PSMD6 Gene

genes like me logo Genes that share paralogs with PSMD6: view

Variants for PSMD6 Gene

Sequence variations from dbSNP and Humsavar for PSMD6 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000193419 -- 64,011,646(+) ATGAA(-/G)GGGAA intron-variant
rs1000526085 -- 64,012,644(+) ACTCC(-/AACT)AACTA intron-variant
rs1000593505 -- 64,011,845(+) GGAAA(-/AAG)AAGCA intron-variant, nc-transcript-variant
rs1000616884 -- 64,016,397(+) TCCAA(C/T)TGAAT intron-variant
rs1000726944 -- 64,011,340(+) ATAGT(A/G)TTAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PSMD6 Gene

Variant ID Type Subtype PubMed ID
esv2725349 CNV deletion 23290073
esv2725350 CNV deletion 23290073
esv2725352 CNV deletion 23290073
esv2725353 CNV deletion 23290073
esv2725354 CNV deletion 23290073

Variation tolerance for PSMD6 Gene

Residual Variation Intolerance Score: 47.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.42; 27.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSMD6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSMD6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMD6 Gene

Disorders for PSMD6 Gene

Relevant External Links for PSMD6

Genetic Association Database (GAD)
PSMD6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSMD6

No disorders were found for PSMD6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PSMD6 Gene

Publications for PSMD6 Gene

  1. The p44S10 locus, encoding a subunit of the proteasome regulatory particle, is amplified during progression of cutaneous malignant melanoma. (PMID: 10723133) Ren S … Ruppert JM (Oncogene 2000) 2 3 4 60
  2. Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. (PMID: 22158537) Cho YS … Seielstad M (Nature genetics 2011) 3 45 60
  3. Mass spectrometric characterization of the affinity-purified human 26S proteasome complex. (PMID: 17323924) Wang X … Huang L (Biochemistry 2007) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. 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 60

Products for PSMD6 Gene

Sources for PSMD6 Gene

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