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 n... See more...

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 Non-ATPase Regulatory Subunit 12 3 4
  • 26S Proteasome Regulatory Subunit RPN5 3 4
  • 26S Proteasome Regulatory Subunit P55 3 4
  • 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 and Non-Specific Syndromic Intellectual Disability. Among its related pathways are Metabolism of proteins and RET signaling. An important paralog of this gene is COPS4.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for PSMD12 Gene

Genomics for PSMD12 Gene

GeneHancer (GH) Regulatory Elements for PSMD12 Gene

Promoters and enhancers for PSMD12 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PSMD12 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSMD12

Top Transcription factor binding sites by QIAGEN in the PSMD12 gene promoter:
  • ATF-2
  • CRE-BP1
  • Egr-4
  • FOXO3
  • FOXO3a
  • FOXO3b
  • HEN1
  • HSF1 (long)
  • HSF1short
  • Pax-5

Genomic Locations for PSMD12 Gene

Genomic Locations for PSMD12 Gene
chr17:67,337,916-67,366,605
(GRCh38/hg38)
Size:
28,690 bases
Orientation:
Minus strand
chr17:65,334,032-65,362,743
(GRCh37/hg19)
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 (PubMed:27428775,PubMed:27342858). The 26S proteasome consists of a 20S core particle (CP) and two 19S regulatory subunits (RP) (PubMed:27428775,PubMed:27342858). The regulatory particle is made of a lid composed of 9 subunits including PSMD12, a base containing 6 ATPases and few additional components (PubMed:27428775,PubMed:27342858). Interacts with ERCC6 (PubMed:26030138).
    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 Lys52, Lys92, Lys121, Lys212, Lys330, and Lys448
  • Modification sites at PhosphoSitePlus

Other Protein References for PSMD12 Gene

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):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PSMD12 Gene

Blocks:
  • Domain in components of the proteasome, COP9-complex and eIF3 (PCI)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PSMD12 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ33879 fis, clone CTONG2007091, highly similar to 26S proteasome non-ATPase regulatory subunit 12 (A6NP15_HUMAN)
  • 26S proteasome regulatory subunit p55 (PSD12_HUMAN)

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 16990800
genes like me logo Genes that share ontologies with PSMD12: view
genes like me logo Genes that share phenotypes with PSMD12: view

Human Phenotype Ontology for PSMD12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMD12

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
nucleus 5
cytosol 5
extracellular 4
cytoskeleton 3
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubules (2)
  • Nucleoplasm (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 21873635
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

PathCards logo

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
.51
genes like me logo Genes that share pathways with PSMD12: view

Pathways by source for PSMD12 Gene

2 KEGG pathways for PSMD12 Gene
3 GeneGo (Thomson Reuters) pathways for PSMD12 Gene
  • Immune response Antigen presentation by MHC class I
  • Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
  • Transcription Ligand-Dependent Transcription of Retinoid-Target genes
2 Qiagen pathways for PSMD12 Gene
  • RAR-Gamma-RXR-Alpha Degradation
  • Remodeling of Adherens Junctions

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 888
carfilzomib Approved, Investigational Pharma other, Inhibitor Other, 20S Proteasome Inhibitor 0
genes like me logo Genes that share compounds with PSMD12: view

Transcripts for PSMD12 Gene

mRNA/cDNA for PSMD12 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMD12

Clone Products

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

Expression for PSMD12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for PSMD12 Gene



Protein tissue co-expression partners for PSMD12 Gene

- Elite partner

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

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 31 30
  • 99.85 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PSMD12 31
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PSMD12 31
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PSMD12 31 30
  • 93.57 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PSMD12 31 30
  • 93.57 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Psmd12 30
  • 88.38 (n)
mouse
(Mus musculus)
Mammalia Psmd12 17 31 30
  • 88.16 (n)
chicken
(Gallus gallus)
Aves PSMD12 31 31
  • 94 (a)
OneToMany
LOC100859465 30
  • 82.31 (n)
lizard
(Anolis carolinensis)
Reptilia PSMD12 31
  • 93 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.6202 30
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7238 30
zebrafish
(Danio rerio)
Actinopterygii psmd12 31 30
  • 74.34 (n)
OneToOne
Dr.20347 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9016 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005535 30
  • 55.71 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rpn5 31 32 30
  • 54.95 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rpn-5 31 30
  • 52.5 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C16313g 30
  • 51.58 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR073W 30
  • 51.35 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPN5 33 31 30
  • 50.8 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RPN5B 30
  • 52.37 (n)
rice
(Oryza sativa)
Liliopsida Os03g0851300 30
  • 51.92 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02650 30
  • 53.92 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpn501 30
  • 52.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.8739 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8739 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for PSMD12: view image

Paralogs for PSMD12 Gene

Paralogs for PSMD12 Gene

Pseudogenes.org Pseudogenes for PSMD12 Gene

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

Variants for PSMD12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PSMD12 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
638584 Pathogenic: Stankiewicz-Isidor syndrome 67,344,656(-) C/A NONSENSE
803461 Uncertain Significance: Stankiewicz-Isidor syndrome 67,342,251(-) T/C MISSENSE_VARIANT
807474 Pathogenic: Stankiewicz-Isidor syndrome 67,357,537(-) CAG/C FRAMESHIFT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs1114167442 Pathogenic: Stankiewicz-Isidor syndrome 67,350,267(-) G/A NONSENSE
rs1114167443 Pathogenic: Stankiewicz-Isidor syndrome 67,340,940(-) A/C NONSENSE

Additional dbSNP identifiers (rs#s) for PSMD12 Gene

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)

Additional Variant Information 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

(5) MalaCards diseases for PSMD12 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
stankiewicz-isidor syndrome
  • stiss
non-specific syndromic intellectual disability
  • complex neurodevelopmental disorder
17q24.2 microdeletion syndrome
  • del(17)(q24)
dubowitz syndrome
  • dubowitz's syndrome
cystic fibrosis
  • cf
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PSD12_HUMAN
  • Stankiewicz-Isidor syndrome (STISS) [MIM:617516]: A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild dysmorphism, ophthalmologic anomalies, feeding difficulties, deafness, and variable congenital malformations of the cardiac and/or urogenital systems. {ECO:0000269 PubMed:28132691}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PSMD12

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

No data available for 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 54
  2. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. (PMID: 28132691) Küry S … Isidor B (American journal of human genetics 2017) 3 4 54
  3. An atomic structure of the human 26S proteasome. (PMID: 27428775) Huang X … Shi Y (Nature structural & molecular biology 2016) 3 4 54
  4. Identification of Novel Proteins Co-Purifying with Cockayne Syndrome Group B (CSB) Reveals Potential Roles for CSB in RNA Metabolism and Chromatin Dynamics. (PMID: 26030138) Nicolai S … Proietti-De-Santis L (PloS one 2015) 3 4 54
  5. Mass spectrometric characterization of the affinity-purified human 26S proteasome complex. (PMID: 17323924) Wang X … Huang L (Biochemistry 2007) 3 4 54

Products for PSMD12 Gene