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Aliases for PSMC4 Gene

Aliases for PSMC4 Gene

  • Proteasome 26S Subunit, ATPase 4 2 3 5
  • Tat-Binding Protein 7 2 3 4
  • Proteasome (Prosome, Macropain) 26S Subunit, ATPase, 4 2 3
  • 26S Proteasome AAA-ATPase Subunit RPT3 3 4
  • MB67-Interacting Protein 3 4
  • Protease 26S Subunit 6 2 3
  • MIP224 3 4
  • TBP-7 3 4
  • TBP7 3 4
  • 26S Protease Regulatory Subunit 6B 3
  • Proteasome 26S Subunit ATPase 4 4
  • MB67 Interacting Protein 2
  • RPT3 3
  • S6 3

External Ids for PSMC4 Gene

Previous HGNC Symbols for PSMC4 Gene

  • MIP224

Previous GeneCards Identifiers for PSMC4 Gene

  • GC19P041104
  • GC19P040868
  • GC19P045153
  • GC19P045168
  • GC19P040477
  • GC19P036913

Summaries for PSMC4 Gene

Entrez Gene Summary for PSMC4 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. This gene encodes a member of the triple-A family of ATPases that is a component of the 19S regulatory subunit and plays a role in 26S proteasome assembly. The encoded protein interacts with gankyrin, a liver oncoprotein, and may also play a role in Parkinson's disease through interactions with synphilin-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

GeneCards Summary for PSMC4 Gene

PSMC4 (Proteasome 26S Subunit, ATPase 4) is a Protein Coding gene. Diseases associated with PSMC4 include Cystic Fibrosis and Myotonia. Among its related pathways are RET signaling and Regulation of activated PAK-2p34 by proteasome mediated degradation. GO annotations related to this gene include hydrolase activity and four-way junction helicase activity.

UniProtKB/Swiss-Prot for PSMC4 Gene

  • The 26S protease is involved in the ATP-dependent degradation of ubiquitinated proteins. The regulatory (or ATPase) complex confers ATP dependency and substrate specificity to the 26S complex.

Gene Wiki entry for PSMC4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSMC4 Gene

Genomics for PSMC4 Gene

Regulatory Elements for PSMC4 Gene

Enhancers for PSMC4 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
GH19F040830 1.1 Ensembl ENCODE 29.4 +861.8 861782 4.6 PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF548 SP3 SNRPA ENSG00000269843 FBL ITPKC CCDC97 PSMC4 SERTAD3 ENSG00000268366 COQ8B CYP2F2P
GH19F040821 1.2 Ensembl ENCODE 21.1 +853.5 853530 6.3 HDGF PKNOX1 ARNT SIN3A YBX1 FEZF1 YY1 ZNF416 FOS KLF13 ENSG00000269843 SNRPA SERTAD3 ITPKC ENSG00000205041 PSMC4 ENSG00000269069 CYP2G2P ENSG00000271299 ZNF546
GH19F039726 0.2 ENCODE 19.7 -243.8 -243821 1.5 PKNOX1 SIN3A ZNF2 GLIS2 ZNF766 ZNF143 ZNF548 SP3 YY2 TSHZ1 PSMC4 LGALS14 ENSG00000269188 LOC105372399 ENSG00000269792 ENSG00000269172 LOC100129935 EID2 LEUTX LGALS13
GH19F039389 0.8 ENCODE 19 -580.2 -580220 3.4 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 RPS16 FBL EID2B PSMC4 ENSG00000269792 LOC105372399 ENSG00000269188 ENSG00000269172 LGALS14 ENSG00000269445
GH19F040776 1.1 ENCODE 19 +806.9 806939 3.3 HDGF PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A ZNF2 YY1 ZNF207 ZNF143 SNRPA FBL ENSG00000269843 PSMC4 ITPKC CCDC97 CYP2F2P C19orf54 MIA RNU6-195P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PSMC4 on UCSC Golden Path with GeneCards custom track

Promoters for PSMC4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000641636 -5 2001 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for PSMC4 Gene

Chromosome:
19
Start:
39,971,005 bp from pter
End:
39,981,764 bp from pter
Size:
10,760 bases
Orientation:
Plus strand

Genomic View for PSMC4 Gene

Genes around PSMC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSMC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSMC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSMC4 Gene

Proteins for PSMC4 Gene

  • Protein details for PSMC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43686-PRS6B_HUMAN
    Recommended name:
    26S protease regulatory subunit 6B
    Protein Accession:
    P43686
    Secondary Accessions:
    • Q96FV5
    • Q9UBM3
    • Q9UEX3

    Protein attributes for PSMC4 Gene

    Size:
    418 amino acids
    Molecular mass:
    47366 Da
    Quaternary structure:
    • Interacts with NR1I3. Interacts with PAAF1. Interacts with TRIM5.

    Three dimensional structures from OCA and Proteopedia for PSMC4 Gene

    Alternative splice isoforms for PSMC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSMC4 Gene

Post-translational modifications for PSMC4 Gene

  • Ubiquitination at Lys 70, Lys 125, Lys 192, Lys 217, Lys 255, and Lys 273
  • Modification sites at PhosphoSitePlus

Other Protein References for PSMC4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for PSMC4

No data available for DME Specific Peptides for PSMC4 Gene

Domains & Families for PSMC4 Gene

Gene Families for PSMC4 Gene

Graphical View of Domain Structure for InterPro Entry

P43686

UniProtKB/Swiss-Prot:

PRS6B_HUMAN :
  • Belongs to the AAA ATPase family.
Family:
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with PSMC4: view

Function for PSMC4 Gene

Molecular function for PSMC4 Gene

GENATLAS Biochemistry:
multicatalytic proteinase complex (prosome,macropain,26S) 19/22S regulator of proteasome S6,ATPase subunit 4,51.6kDa
UniProtKB/Swiss-Prot Function:
The 26S protease is involved in the ATP-dependent degradation of ubiquitinated proteins. The regulatory (or ATPase) complex confers ATP dependency and substrate specificity to the 26S complex.

Gene Ontology (GO) - Molecular Function for PSMC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 12525503
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0016887 ATPase activity TAS 9473509
genes like me logo Genes that share ontologies with PSMC4: view
genes like me logo Genes that share phenotypes with PSMC4: view

Animal Models for PSMC4 Gene

MGI Knock Outs for PSMC4:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PSMC4 Gene

Localization for PSMC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSMC4 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PSMC4 Gene COMPARTMENTS Subcellular localization image for PSMC4 gene
Compartment Confidence
cytosol 5
nucleus 5
peroxisome 2
lysosome 1

Gene Ontology (GO) - Cellular Components for PSMC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex IDA,TAS 17323924
GO:0005634 nucleus IEA,IDA 21630459
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PSMC4: view

Pathways & Interactions for PSMC4 Gene

SuperPathways for PSMC4 Gene

SuperPathway Contained pathways
1 Regulation of activated PAK-2p34 by proteasome mediated degradation
.78
.32
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 PSMC4: view

Gene Ontology (GO) - Biological Process for PSMC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000209 protein polyubiquitination TAS --
GO:0001824 blastocyst development IEA --
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 --
genes like me logo Genes that share ontologies with PSMC4: view

No data available for SIGNOR curated interactions for PSMC4 Gene

Drugs & Compounds for PSMC4 Gene

(31) Drugs for PSMC4 Gene - From: DGIdb and Novoseek

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 794
carfilzomib Approved Pharma other, Inhibitor Other, 20S Proteasome Inhibitor 0

(9) Additional Compounds for PSMC4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PSMC4: view

Transcripts for PSMC4 Gene

Unigene Clusters for PSMC4 Gene

Proteasome (prosome, macropain) 26S subunit, ATPase, 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PSMC4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12
SP1: - - -
SP2: - -
SP3:
SP4:
SP5: -
SP6:

Relevant External Links for PSMC4 Gene

GeneLoc Exon Structure for
PSMC4
ECgene alternative splicing isoforms for
PSMC4

Expression for PSMC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PSMC4 Gene

Protein differential expression in normal tissues from HIPED for PSMC4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.4) and Lymph node (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PSMC4 Gene



Protein tissue co-expression partners for PSMC4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PSMC4 Gene:

PSMC4

SOURCE GeneReport for Unigene cluster for PSMC4 Gene:

Hs.211594
genes like me logo Genes that share expression patterns with PSMC4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PSMC4 Gene

Orthologs for PSMC4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PSMC4 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia PSMC4 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PSMC4 34 35
  • 99.6 (n)
oppossum
(Monodelphis domestica)
Mammalia PSMC4 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PSMC4 34 35
  • 92.19 (n)
dog
(Canis familiaris)
Mammalia PSMC4 34 35
  • 91.95 (n)
mouse
(Mus musculus)
Mammalia Psmc4 34 16 35
  • 91.47 (n)
rat
(Rattus norvegicus)
Mammalia Psmc4 34
  • 91.47 (n)
lizard
(Anolis carolinensis)
Reptilia PSMC4 35
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psmc4 34
  • 81.5 (n)
Str.200 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68784 34
zebrafish
(Danio rerio)
Actinopterygii psmc4 34 35
  • 82.46 (n)
wufe38b10 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10986 34
fruit fly
(Drosophila melanogaster)
Insecta CG9475 36
  • 78 (a)
Rpt3R 35
  • 78 (a)
OneToMany
Rpt3 36 34 35
  • 76.78 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003008 34
  • 76.16 (n)
worm
(Caenorhabditis elegans)
Secernentea rpt-3 34 35
  • 68.42 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR394W 34
  • 63.16 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C06534g 34
  • 60.61 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPT3 34 35 37
  • 60.03 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RPT3 34
  • 68.69 (n)
soybean
(Glycine max)
eudicotyledons Gma.1686 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7717 34
rice
(Oryza sativa)
Liliopsida Os02g0325100 34
  • 71.87 (n)
Os.11446 34
barley
(Hordeum vulgare)
Liliopsida Hv.8287 34
wheat
(Triticum aestivum)
Liliopsida Ta.21374 34
corn
(Zea mays)
Liliopsida Zm.16789 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7996 35
  • 86 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02260 34
  • 67.66 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpt3 34
  • 61.67 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.118 34
Species where no ortholog for PSMC4 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)
  • chicken (Gallus gallus)
  • 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)
  • 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 PSMC4 Gene

ENSEMBL:
Gene Tree for PSMC4 (if available)
TreeFam:
Gene Tree for PSMC4 (if available)

Paralogs for PSMC4 Gene

(13) SIMAP similar genes for PSMC4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PSMC4: view

No data available for Paralogs for PSMC4 Gene

Variants for PSMC4 Gene

Sequence variations from dbSNP and Humsavar for PSMC4 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1042989 -- 39,972,450(+) AATTT(C/T)TCCAT intron-variant, reference, missense
rs1061961 -- 39,974,386(+) ATGCA(C/T)TGGTG reference, synonymous-codon
rs10686468 -- 39,977,934(+) CACCT(-/CA)GTCTC intron-variant
rs111457752 -- 39,975,469(+) ATAAC(-/T)TTTTT intron-variant
rs111484261 -- 39,974,636(+) CAGGT(A/C/G)AGGCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PSMC4 Gene

Variant ID Type Subtype PubMed ID
esv2758760 CNV gain 17122850
nsv9726 CNV gain 18304495

Variation tolerance for PSMC4 Gene

Residual Variation Intolerance Score: 10.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.21; 4.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSMC4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSMC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMC4 Gene

Disorders for PSMC4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PSMC4 Gene - From: GeneCards

Disorder Aliases PubMed IDs
cystic fibrosis
  • pseudomonas aeruginosa chronic infection by, in cystic fibrosis
myotonia
- elite association - COSMIC cancer census association via MalaCards
Search PSMC4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PSMC4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSMC4
genes like me logo Genes that share disorders with PSMC4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PSMC4 Gene

Publications for PSMC4 Gene

  1. A component of the 26S proteasome binds on orphan member of the nuclear hormone receptor superfamily. (PMID: 8603043) Choi H.S. … Moore D.D. (J. Steroid Biochem. Mol. Biol. 1996) 2 3 4 22 64
  2. Chromosomal localization and immunological analysis of a family of human 26S proteasomal ATPases. (PMID: 9473509) Tanahashi N. … Tanaka K. (Biochem. Biophys. Res. Commun. 1998) 2 3 22 64
  3. Tat-binding protein 7 is a subunit of the 26S protease. (PMID: 8060531) Dubiel W. … Rechsteiner M. (Biol. Chem. Hoppe-Seyler 1994) 3 4 22 64
  4. TRIM5alpha associates with proteasomal subunits in cells while in complex with HIV-1 virions. (PMID: 22078707) Lukic Z. … Campbell E.M. (Retrovirology 2011) 3 4 64
  5. Mass spectrometric characterization of the affinity-purified human 26S proteasome complex. (PMID: 17323924) Wang X. … Huang L. (Biochemistry 2007) 3 4 64

Products for PSMC4 Gene

  • VectorBuilder custom