PSMD11 (proteasome 26S subunit, non-ATPase 11)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5717
Gene name Gene Name - the full gene name approved by the HGNC.
Proteasome 26S subunit, non-ATPase 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PSMD11
Synonyms (NCBI Gene) Gene synonyms aliases
Rpn6, S9, p44.5
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q11.2
Summary Summary of gene provided in NCBI Entrez 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 a
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(273)
miRTarBase ID miRNA Experiments Reference
MIRT027649 hsa-miR-98-5p Microarray 19088304
MIRT031677 hsa-miR-16-5p Proteomics 18668040
MIRT048989 hsa-miR-92a-3p CLASH 23622248
MIRT048802 hsa-miR-93-5p CLASH 23622248
MIRT047502 hsa-miR-10b-5p CLASH 23622248
Transcription factors
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
FOXO4 Unknown 22972301
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(26)
GO ID Ontology Definition Evidence Reference
GO:0000502 Component Proteasome complex IDA 17323924
GO:0000502 Component Proteasome complex IEA
GO:0000502 Component Proteasome complex NAS 29636472
GO:0000502 Component Proteasome complex TAS 9119060
GO:0005198 Function Structural molecule activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
604449 9556 ENSG00000108671
Protein
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID O00231
Protein name 26S proteasome non-ATPase regulatory subunit 11 (26S proteasome regulatory subunit RPN6) (26S proteasome regulatory subunit S9) (26S proteasome regulatory subunit p44.5)
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 , 5L4K , 5LN3 , 5M32 , 5T0C , 5T0G , 5T0H , 5T0I , 5T0J , 5VFP , 5VFQ , 5VFR , 5VFS , 5VFT , 5VFU , 5VGZ , 5VHF , 5VHH , 5VHI , 5VHS , 6MSB , 6MSD , 6MSE , 6MSG , 6MSH , 6MSJ , 6MSK , 6WJD , 6WJN , 7QXN , 7QXP , 7QXU , 7QXW , 7QXX , 7QY7 , 7QYA , 7QYB , 7W37 , 7W38 , 7W39 , 7W3A , 7W3B , 7W3C , 7W3F , 7W3G , 7W3H , 7W3I , 7W3J , 7W3K , 7W3M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18055 RPN6_N 12 → 129 26S proteasome regulatory subunit RPN6 N-terminal domain Domain
PF01399 PCI 285 → 389 PCI domain Domain
PF18503 RPN6_C_helix 393 → 419 26S proteasome subunit RPN6 C-terminal helix domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in embryonic stem cells (ESCs). Expression decreases as ESCs differentiate. {ECO:0000269|PubMed:22972301}.
Sequence 
MAAAAVVEFQRAQSLLSTDREASIDILHSIVKRDIQENDEEAVQVKEQSILELGSLLAKT
GQAAELGGLLKYVRPFLNSISKAKAARLVRSLLDLFLDMEAATGQEVELCLECIEWAKSE
KRTFLRQALEARLVSLYFDTKRYQEALHLGSQLLRELKKMDDKALLVEVQLLESKTYHAL
SNLPKARAALTSARTTANAIYCPPKLQATLDMQSGIIHAAEEKDWKTAYSYFYEAFEGYD
SIDSPKAITSLKYMLLCKIMLNTPEDVQALVSGKLALRYAGRQTEALKCVAQASKNRSLA
DFEKALTDYRAELRDDPIISTHLAKLYDNLLEQNLIRVIEPFSRVQIEHISSLIKLSKAD
VERKLSQMILDKKFHGILDQGEGVLIIFDEPPVDKTYEAALETIQNMSKVVDSLYNKAKK
LT
Sequence length 422
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 40033250
Breast Neoplasms Associate 30670769
Carcinoma Pancreatic Ductal Associate 33525943, 35459186
Lymphatic Metastasis Associate 30670769
Neoplasm Metastasis Associate 31173190
Neoplasms Associate 36123629
Pancreatic Neoplasms Associate 24105791
Spinal Cord Injuries Associate 17218363