Aliases for PSMD13 Gene
Aliases for PSMD13 Gene
External Ids for PSMD13 Gene
- HGNC: 9558
- Entrez Gene: 5719
- Ensembl: ENSG00000185627
- OMIM: 603481
- UniProtKB: Q9UNM6
Previous GeneCards Identifiers for PSMD13 Gene
- GC11P000459
- GC11P000281
- GC11M000945
- GC11P000056
Summaries for PSMD13 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. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
GeneCards Summary for PSMD13 Gene
PSMD13 (Proteasome 26S Subunit, Non-ATPase 13) is a Protein Coding gene. Diseases associated with PSMD13 include Leber Congenital Amaurosis. Among its related pathways are RET signaling and CDK-mediated phosphorylation and removal of Cdc6.
UniProtKB/Swiss-Prot for PSMD13 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.
Additional gene information for PSMD13 Gene
- Monarch Initiative
- Search for PSMD13 at DataMed
- Search for PSMD13 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSMD13 Gene
Genomics for PSMD13 Gene
GeneHancer (GH) Regulatory Elements for PSMD13 Gene
Promoters and enhancers for PSMD13 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PSMD13 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for PSMD13 Gene
Genomic Locations for PSMD13 Gene
- chr11:236,546-252,984
- (GRCh38/hg38)
- Size:
- 16,439 bases
- Orientation:
- Plus strand
- chr11:236,546-252,984
- (GRCh37/hg19)
Genomic View for PSMD13 Gene
Genes around PSMD13 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11p15.5 by Ensembl
- 11p15.5 by Entrez Gene
- 11p15.5 by HGNC
PSMD13 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PSMD13 Gene
Proteins for PSMD13 Gene
-
Protein details for PSMD13 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UNM6-PSD13_HUMAN
- Recommended name:
- 26S proteasome non-ATPase regulatory subunit 13
- Protein Accession:
- Q9UNM6
- B3KT15
- O75831
- Q53XU2
- Q9UNV3
Protein attributes for PSMD13 Gene
- Size:
- 376 amino acids
- Molecular mass:
- 42945 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 PSMD13, a base containing 6 ATPases and few additional components.
Three dimensional structures from OCA and Proteopedia for PSMD13 Gene
Protein Expression for PSMD13 Gene
Post-translational modifications for PSMD13 Gene
Other Protein References for PSMD13 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
Abcam antibodies for PSMD13
-
Cloud-Clone Corp. Antibodies for PSMD13
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- Search GeneTex for Antibodies for PSMD13
Protein Products
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-
Abcam proteins for PSMD13
Assay Products
No data available for DME Specific Peptides for PSMD13 Gene
Domains & Families for PSMD13 Gene
Gene Families for PSMD13 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for PSMD13 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for PSMD13 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UNM6- Family:
-
- Belongs to the proteasome subunit S11 family.
Function for PSMD13 Gene
Molecular function for PSMD13 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 PSMD13 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005198 | structural molecule activity | IBA | -- |
Phenotypes for PSMD13 Gene
- GenomeRNAi human phenotypes for PSMD13:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Dynamic nuclei (hole, folded or small irregular)
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Increased G1 DNA content
- G0/1 arrest
- Decreased shRNA abundance (Z-score < -2)
- Decreased IL-8 secretion
- Increased circadian period length
- Decreased Salmonella proliferation
- Decreased viability of wild-type and TP53 knockout cells
- Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
Animal Model Products
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-
-
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-
ViGene Biosciences ready-to-package AAV shRNAs for PSMD13 gene
- Search ViGene Biosciences for PSMD13
CRISPR Products
-
OriGene CRISPR knockouts for PSMD13
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miRNA for PSMD13 Gene
- miRTarBase miRNAs that target PSMD13
miRNA Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available PSMD13 gene related products
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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ViGene Biosciences adenoviral particle packaged cDNA for PSMD13 gene
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ViGene Biosciences lentiviral particle packaged cDNA for PSMD13 gene
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSMD13 Gene
Localization for PSMD13 Gene
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 5 |
| peroxisome | 1 |
- Cytosol (2)
- Nuclear speckles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000502 | proteasome complex | TAS,IDA | 17323924 |
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005634 | nucleus | IDA,HDA | 21630459 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005829 | cytosol | TAS,IBA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for PSMD13 Gene
Pathways & Interactions for PSMD13 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | CDK-mediated phosphorylation and removal of Cdc6 |
.93
.93
|
.80
.78
.78
.70
.47
.31
|
| 2 | RET signaling |
.92
|
.92
|
| 3 | HIV Life Cycle |
.65
|
.45
|
| 4 | Class I MHC mediated antigen processing and presentation | ||
| 5 | Antigen processing-Cross presentation | ||
Pathways by source for PSMD13 Gene
1 Sino Biological pathway for PSMD13 Gene
2 BioSystems pathways for PSMD13 Gene
2 KEGG pathways for PSMD13 Gene
3 GeneGo (Thomson Reuters) pathways for PSMD13 Gene
2 Qiagen pathways for PSMD13 Gene
Interacting Proteins for PSMD13 Gene
Selected Interacting proteins:
ENSP00000396937
Q9UNM6-PSD13_HUMAN
for PSMD13 Gene via
STRING
IID
MINT
| 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 | IBA | -- |
No data available for SIGNOR curated interactions for PSMD13 Gene
Drugs & Compounds for PSMD13 Gene
Transcripts for PSMD13 Gene
mRNA/cDNA for PSMD13 Gene
- (3) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (650) Selected AceView cDNA sequences:
- (15) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PSMD13 Gene
CRISPR Products
-
OriGene CRISPR knockouts for PSMD13
- genomics-online: gRNA clones - Search results for available PSMD13 gene related products
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PSMD13
- GenScript: Design CRISPR guide RNA sequences for PSMD13
miRNA Products
- Search ViGene Biosciences for PSMD13
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PSMD13
- Browse OriGene Inhibitory RNA Products For PSMD13
- genomics-online: shRNA clones - Search results for available PSMD13 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PSMD13 gene
Clone Products
- Sino Biological Human cDNA Clone for PSMD13
- VectorBuilder custom plasmid, inducible vectors for PSMD13
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PSMD13
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available PSMD13 gene related products
- orf clones - Search results for available PSMD13 gene related products
- Applied Biological Materials Clones for PSMD13
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | · | 14c | · | 14d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||
| SP8: |
Expression for PSMD13 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
- Brain (Nervous System)
This gene is overexpressed in Peripheral blood mononuclear cells (7.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PSMD13 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PSMD13 Gene:
PSMD13SOURCE GeneReport for Unigene cluster for PSMD13 Gene:
Hs.134688Evidence on tissue expression from TISSUES for PSMD13 Gene
- Nervous system(4.8)
- Lung(4.7)
- Kidney(4.4)
- Liver(4.4)
- Skin(3.7)
- Eye(2.6)
- Adrenal gland(2.4)
- Intestine(2.3)
- Pancreas(2.3)
Primer Products
-
OriGene qPCR primer pairs and template standards for PSMD13
-
OriGene qPCR primer pairs for PSMD13
- genomics-online: primer clones - Search results for available PSMD13 gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSMD13 Gene
Orthologs for PSMD13 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PSMD13 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | PSMD13 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | PSMD13 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Psmd13 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Psmd13 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PSMD13 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PSMD13 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PSMD13 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | psmd13 33 |
|
||
| Str.1435 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.3428 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | psmd13 33 34 |
|
||
| zgc56377 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9211 33 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001651 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Rpn9 35 33 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | rpn-9 33 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RPN9 33 34 36 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B00825g 33 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ADR191C 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT4G19006 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os01g0511300 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne | |
| bread mold (Neurospora crassa) |
Ascomycetes | NCU02374 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rpn9 33 |
|
- Species where no ortholog for PSMD13 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)
Paralogs for PSMD13 Gene
(1) SIMAP similar genes for PSMD13 Gene using alignment to 8 proteins:
No data available for Paralogs for PSMD13 Gene
Variants for PSMD13 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000284075 | -- | 247,264(+) | TT/T | intron_variant | |
| rs1000510473 | -- | 252,308(+) | T/C | intron_variant | |
| rs1000529982 | -- | 247,871(+) | T/A | intron_variant | |
| rs1000756257 | -- | 236,526(+) | G/A | upstream_transcript_variant | |
| rs1001129383 | -- | 252,777(+) | A/T | 3_prime_UTR_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1010n100 | CNV | gain | 25217958 |
| dgv1011n100 | CNV | gain | 25217958 |
| dgv1012n100 | CNV | gain | 25217958 |
| dgv1505n54 | CNV | gain | 21841781 |
| esv32593 | CNV | loss | 17666407 |
| esv3625060 | CNV | gain | 21293372 |
| esv3625064 | CNV | gain | 21293372 |
| nsv1052484 | CNV | gain | 25217958 |
| nsv1069987 | CNV | deletion | 25765185 |
| nsv467631 | CNV | gain | 19166990 |
| nsv469921 | CNV | gain | 18288195 |
| nsv516439 | CNV | loss | 19592680 |
| nsv522596 | CNV | gain | 19592680 |
| nsv527533 | CNV | gain | 19592680 |
| nsv552762 | CNV | gain | 21841781 |
| nsv552765 | CNV | gain | 21841781 |
| nsv552766 | CNV | loss | 21841781 |
| nsv552767 | CNV | loss | 21841781 |
| nsv7632 | CNV | insertion | 18451855 |
Residual Variation Intolerance Score:
53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.46;
28.56% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PSMD13 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PSMD13
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMD13 Gene
Disorders for PSMD13 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leber congenital amaurosis |
|
|
Search PSMD13 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PSMD13
No data available for UniProtKB/Swiss-Prot and Genatlas for PSMD13 Gene
Publications for PSMD13 Gene
- cDNA cloning and functional analysis of p28 (Nas6p) and p40.5 (Nas7p), two novel regulatory subunits of the 26S proteasome. (PMID: 9714768) Hori T … Tanaka K (Gene 1998) 2 3 4 22 58
- Mass spectrometric characterization of the affinity-purified human 26S proteasome complex. (PMID: 17323924) Wang X … Huang L (Biochemistry 2007) 3 4 58
- Characterization of a bidirectional promoter shared between two human genes related to aging: SIRT3 and PSMD13. (PMID: 17059877) Bellizzi D … De Benedictis G (Genomics 2007) 3 22 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- 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 58
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