PSMC3 (proteasome 26S subunit, ATPase 3)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 5702
Gene name Proteasome 26S subunit, ATPase 3
Gene symbol PSMC3
Synonyms (NCBI Gene)
DCIDPRPT5TBP1
Chromosome 11
Chromosome location 11p11.2
Summary 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 a
SNPs SNP information provided by dbSNP.
1
Gene SNPs Other IDs Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs1177898071 T>C,G Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
4
Gene SNPs Other IDs Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT050417 hsa-miR-23a-3p CLASH 23622248
MIRT049107 hsa-miR-92a-3p CLASH 23622248
MIRT049107 hsa-miR-92a-3p CLASH 23622248
MIRT048151 hsa-miR-196a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
Gene SNPs Other IDs Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000502 Component Proteasome complex IDA 9464850, 17323924
GO:0000502 Component Proteasome complex IEA
GO:0000502 Component Proteasome complex NAS 29636472
GO:0000502 Component Proteasome complex TAS 8811196
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
186852 9549 ENSG00000165916
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P17980
Protein name 26S proteasome regulatory subunit 6A (26S proteasome AAA-ATPase subunit RPT5) (Proteasome 26S subunit ATPase 3) (Proteasome subunit P50) (Tat-binding protein 1) (TBP-1)
Protein 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
PDB 5GJQ , 5GJR , 5L4G , 5LN3 , 5M32 , 5T0C , 5T0G , 5T0H , 5T0I , 5T0J , 5VFP , 5VFQ , 5VFR , 5VFS , 5VFT , 5VFU , 5VGZ , 5VHF , 5VHH , 5VHI , 5VHJ , 5VHM , 5VHN , 5VHO , 5VHP , 5VHQ , 5VHR , 5VHS , 6MSB , 6MSD , 6MSE , 6MSG , 6MSH , 6MSJ , 6MSK , 6WJD , 6WJN , 7QXN , 7QXP , 7QXU , 7QXW , 7QXX , 7QY7 , 7QYA , 7QYB , 7W37 , 7W38 , 7W39 , 7W3A , 7W3B , 7W3C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16450 Prot_ATP_ID_OB 90 → 165 Proteasomal ATPase OB C-terminal domain Domain
PF00004 AAA 223 → 356 ATPase family associated with various cellular activities (AAA) Domain
PF17862 AAA_lid_3 378 → 422 AAA+ lid domain Domain
Sequence 
MNLLPNIESPVTRQEKMATVWDEAEQDGIGEEVLKMSTEEIIQRTRLLDSEIKIMKSEVL
RVTHELQAMKDKIKENSEKIKVNKTLPYLVSNVIELLDVDPNDQEEDGANIDLDSQRKGK
CAVIKTSTRQTYFLPVIGLVDAEKLKPGDLVGVNKDSYLILETLPTEYDSRVKAMEVDER
PTEQYSDIGGLDKQIQELVEAIVLPMNHKEKFENLGIQPPKGVLMYGPPGTGKTLLARAC
AAQTKATFLKLAGPQLVQMFIGDGAKLVRDAFALAKEKAPSIIFIDELDAIGTKRFDSEK
AGDREVQRTMLELLNQLDGFQPNTQVKVIAATNRVDILDPALLRSGRLDRKIEFPMPNEE
ARARIMQIHSRKMNVSPDVNYEELARCTDDFNGAQCKAVCVEAGMIALRRGATELTHEDY
MEGILEVQAKKKANLQYYA
Sequence length 439
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Deafness, cataract, impaired intellectual development, and polyneuropathy Pathogenic rs1177898071 RCV001450093
Developmental cataract Pathogenic rs1177898071 RCV000768461
Neurodevelopmental delay Pathogenic rs1177898071 RCV000768461
Severe sensorineural hearing impairment Pathogenic rs1177898071 RCV000768461
Show/Hide Text Mining Associations (6)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 34329194
Carcinoma Hepatocellular Associate 12733146
Carcinoma Non Small Cell Lung Inhibit 32386284
Hepatitis B Associate 35695579
Lymphatic Metastasis Inhibit 32386284
Neoplasms Associate 12733146, 32386284