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Aliases for PSMD12 Gene

Aliases for PSMD12 Gene

  • Proteasome 26S Subunit, Non-ATPase 12 2 3 5
  • Proteasome (Prosome, Macropain) 26S Subunit, Non-ATPase, 12 2 3
  • 26S Proteasome Regulatory Subunit RPN5 3 4
  • 26S Proteasome Regulatory Subunit P55 3 4
  • 26S Proteasome Non-ATPase Regulatory Subunit 12 3
  • STISS 3
  • Rpn5 3
  • P55 3

External Ids for PSMD12 Gene

Previous GeneCards Identifiers for PSMD12 Gene

  • GC17P062966
  • GC17P066117
  • GC17M065751
  • GC17M065885
  • GC17M065886
  • GC17M062764
  • GC17M065334
  • GC17M060723

Summaries for PSMD12 Gene

Entrez Gene Summary for PSMD12 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 non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

GeneCards Summary for PSMD12 Gene

PSMD12 (Proteasome 26S Subunit, Non-ATPase 12) is a Protein Coding gene. Diseases associated with PSMD12 include Stankiewicz-Isidor Syndrome. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and RET signaling.

UniProtKB/Swiss-Prot for PSMD12 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 PSMD12 Gene

Additional gene information for PSMD12 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSMD12 Gene

Genomics for PSMD12 Gene

Regulatory Elements for PSMD12 Gene

Enhancers for PSMD12 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
GH17H067418 1.8 FANTOM5 Ensembl ENCODE dbSUPER 14 -55.9 -55868 7 TBP BATF BRCA1 ZBTB40 RFX5 YY1 ZNF121 ZNF366 ELK1 SCRT2 PITPNC1 PSMD12 MIR548D2 MIR548AA2 HELZ BPTF ENSG00000201547 RN7SL756P
GH17H067399 1.4 Ensembl ENCODE dbSUPER 17.6 -35.2 -35160 4 HDGF FOXA2 NFIB FEZF1 ZBTB7B YY1 SCRT2 RCOR1 CEBPB REST PSMD12 MIR548D2 MIR548AA2 PITPNC1 ENSG00000201547 GC17P067379 GC17P067378
GH17H067473 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.8 -110.3 -110273 6 ELF3 PKNOX1 TBL1XR1 NFIB RB1 ARID4B SIN3A NFXL1 ZNF2 RAD21 PITPNC1 PSMD12 HELZ BPTF MIR548D2 GC17M067472 ENSG00000264754
GH17H067490 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.3 -124.7 -124713 2 HDGF SIN3A GLIS2 ELK1 ZNF207 FOS SP3 REST SMARCB1 GLIS1 PSMD12 PITPNC1 HELZ MIR548D2 GC17M067472 ENSG00000264754
GH17H067480 1.4 FANTOM5 Ensembl ENCODE dbSUPER 14.2 -115.1 -115091 1 JUND JUN JUNB CREM PSMD12 PITPNC1 HELZ GC17M067472 MIR548D2 ENSG00000264754
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PSMD12 on UCSC Golden Path with GeneCards custom track

Promoters for PSMD12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000097372 427 2001 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9

Genomic Location for PSMD12 Gene

Chromosome:
17
Start:
67,337,916 bp from pter
End:
67,366,627 bp from pter
Size:
28,712 bases
Orientation:
Minus strand

Genomic View for PSMD12 Gene

Genes around PSMD12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSMD12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSMD12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSMD12 Gene

Proteins for PSMD12 Gene

  • Protein details for PSMD12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00232-PSD12_HUMAN
    Recommended name:
    26S proteasome non-ATPase regulatory subunit 12
    Protein Accession:
    O00232
    Secondary Accessions:
    • A6NP15
    • Q53HA2
    • Q6P053

    Protein attributes for PSMD12 Gene

    Size:
    456 amino acids
    Molecular mass:
    52904 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 PSMD12, a base containing 6 ATPases and few additional components.
    SequenceCaution:
    • Sequence=AAH65826.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PSMD12 Gene

    Alternative splice isoforms for PSMD12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSMD12 Gene

Post-translational modifications for PSMD12 Gene

  • Ubiquitination at isoforms=52, Lys121, isoforms=2212, and Lys330
  • Modification sites at PhosphoSitePlus

Other Protein References for PSMD12 Gene

Antibody Products

No data available for DME Specific Peptides for PSMD12 Gene

Domains & Families for PSMD12 Gene

Gene Families for PSMD12 Gene

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

Graphical View of Domain Structure for InterPro Entry

O00232

UniProtKB/Swiss-Prot:

PSD12_HUMAN :
  • Belongs to the proteasome subunit p55 family.
Family:
  • Belongs to the proteasome subunit p55 family.
genes like me logo Genes that share domains with PSMD12: view

Function for PSMD12 Gene

Molecular function for PSMD12 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 PSMD12 Gene

Gene Ontology (GO) - Molecular Function for PSMD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14743216
genes like me logo Genes that share ontologies with PSMD12: view
genes like me logo Genes that share phenotypes with PSMD12: view

Animal Model Products

CRISPR Products

miRNA for PSMD12 Gene

miRTarBase miRNAs that target PSMD12

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PSMD12
  • 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 PSMD12 Gene

Localization for PSMD12 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 PSMD12 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
cytoskeleton 3
peroxisome 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubules (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PSMD12 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:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PSMD12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PSMD12 Gene

Pathways & Interactions for PSMD12 Gene

SuperPathways for PSMD12 Gene

SuperPathway Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
.78
.31
2 RET signaling
3 HIV Life Cycle
.45
4 Class I MHC mediated antigen processing and presentation
5 Antigen processing-Cross presentation
genes like me logo Genes that share pathways with PSMD12: view

Gene Ontology (GO) - Biological Process for PSMD12 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:0006521 regulation of cellular amino acid metabolic process TAS --
genes like me logo Genes that share ontologies with PSMD12: view

No data available for SIGNOR curated interactions for PSMD12 Gene

Drugs & Compounds for PSMD12 Gene

(2) Drugs for PSMD12 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 PSMD12: view

Transcripts for PSMD12 Gene

Unigene Clusters for PSMD12 Gene

Proteasome (prosome, macropain) 26S subunit, non-ATPase, 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PSMD12
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PSMD12 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16
SP1: -
SP2: - - -
SP3: - - - -
SP4: - -
SP5:

Relevant External Links for PSMD12 Gene

GeneLoc Exon Structure for
PSMD12
ECgene alternative splicing isoforms for
PSMD12

Expression for PSMD12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PSMD12 Gene

Protein differential expression in normal tissues from HIPED for PSMD12 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PSMD12 Gene



Protein tissue co-expression partners for PSMD12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PSMD12 Gene:

PSMD12

SOURCE GeneReport for Unigene cluster for PSMD12 Gene:

Hs.592689

Evidence on tissue expression from TISSUES for PSMD12 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Muscle(4.4)
  • Blood(4.3)
  • Lung(2.8)
  • Pancreas(2.2)
genes like me logo Genes that share expression patterns with PSMD12: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSMD12 Gene

Orthologs for PSMD12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PSMD12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSMD12 33 34
  • 99.85 (n)
oppossum
(Monodelphis domestica)
Mammalia PSMD12 34
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PSMD12 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PSMD12 33 34
  • 93.57 (n)
dog
(Canis familiaris)
Mammalia PSMD12 33 34
  • 93.57 (n)
rat
(Rattus norvegicus)
Mammalia Psmd12 33
  • 88.38 (n)
mouse
(Mus musculus)
Mammalia Psmd12 33 16 34
  • 88.16 (n)
chicken
(Gallus gallus)
Aves PSMD12 34 34
  • 94 (a)
OneToMany
LOC100859465 33
  • 82.31 (n)
lizard
(Anolis carolinensis)
Reptilia PSMD12 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7238 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6202 33
zebrafish
(Danio rerio)
Actinopterygii psmd12 33 34
  • 74.34 (n)
Dr.20347 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9016 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005535 33
  • 55.71 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rpn5 35 33 34
  • 54.95 (n)
worm
(Caenorhabditis elegans)
Secernentea rpn-5 33 34
  • 52.5 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C16313g 33
  • 51.58 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR073W 33
  • 51.35 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPN5 33 34 36
  • 50.8 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RPN5B 33
  • 52.37 (n)
rice
(Oryza sativa)
Liliopsida Os03g0851300 33
  • 51.92 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02650 33
  • 53.92 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpn501 33
  • 52.59 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8739 33
Species where no ortholog for PSMD12 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for PSMD12 Gene

ENSEMBL:
Gene Tree for PSMD12 (if available)
TreeFam:
Gene Tree for PSMD12 (if available)

Paralogs for PSMD12 Gene

Pseudogenes.org Pseudogenes for PSMD12 Gene

genes like me logo Genes that share paralogs with PSMD12: view

No data available for Paralogs for PSMD12 Gene

Variants for PSMD12 Gene

Sequence variations from dbSNP and Humsavar for PSMD12 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000003213 -- 67,354,360(+) AGCTA(A/T)GATTG intron-variant
rs1000133585 -- 67,359,352(+) CTGGT(C/G)TCTAG intron-variant
rs1000205906 -- 67,341,594(+) TTGAA(G/T)CTGCC intron-variant
rs1000291437 -- 67,365,156(+) TCCAT(C/T)CTGGG intron-variant
rs1000339331 -- 67,364,921(+) GCTCA(A/C)GCCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PSMD12 Gene

Variant ID Type Subtype PubMed ID
nsv1120054 OTHER inversion 24896259

Variation tolerance for PSMD12 Gene

Residual Variation Intolerance Score: 22.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.74; 15.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSMD12 Gene

Human Gene Mutation Database (HGMD)
PSMD12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSMD12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMD12 Gene

Disorders for PSMD12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PSMD12 Gene - From: OMIM and ClinVar

Disorder Aliases PubMed IDs
stankiewicz-isidor syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PSMD12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSMD12
genes like me logo Genes that share disorders with PSMD12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PSMD12 Gene

Publications for PSMD12 Gene

  1. cDNA cloning and functional analysis of p44.5 and p55, two regulatory subunits of the 26S proteasome. (PMID: 9426256) Saito A … Tanaka K (Gene 1997) 2 3 4 60
  2. Mass spectrometric characterization of the affinity-purified human 26S proteasome complex. (PMID: 17323924) Wang X … Huang L (Biochemistry 2007) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. 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
  5. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PMID: 12665801) Gevaert K … Vandekerckhove J (Nature biotechnology 2003) 3 4 60

Products for PSMD12 Gene

Sources for PSMD12 Gene

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