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PSMD12 (proteasome 26S subunit, non-ATPase 12)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5718
Gene nameGene Name - the full gene name approved by the HGNC.
Proteasome 26S subunit, non-ATPase 12
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PSMD12
SynonymsGene synonyms aliases
Rpn5, STISS, p55
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q24.2
SummarySummary 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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs895130488 G>A,T Pathogenic Synonymous variant, coding sequence variant, non coding transcript variant, stop gained
rs1114167442 G>A,C Pathogenic Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1114167443 A>C Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs1114167444 T>C Pathogenic Splice acceptor variant, non coding transcript variant
rs1403781576 C>A,G Pathogenic Stop gained, missense variant, non coding transcript variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021584 hsa-miR-142-3p Microarray 17612493
MIRT021773 hsa-miR-132-3p Microarray 17612493
MIRT031616 hsa-miR-16-5p Proteomics 18668040
MIRT1270439 hsa-miR-2113 CLIP-seq
MIRT1270440 hsa-miR-4742-3p CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0000209 Process Protein polyubiquitination TAS
GO:0000502 Component Proteasome complex IDA 17323924
GO:0002223 Process Stimulatory C-type lectin receptor signaling pathway TAS
GO:0002479 Process Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID O00232
Protein name 26S proteasome non-ATPase regulatory subunit 12 (26S proteasome regulatory subunit RPN5) (26S proteasome regulatory subunit p55)
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
PF01399 PCI
300 417
PCI domain
Domain
PF18098 RPN5_C
422 454
26S proteasome regulatory subunit RPN5 C-terminal domain
Domain
Sequence
MADGGSERADGRIVKMEVDYSATVDQRLPECAKLAKEGRLQEVIETLLSLEKQTRTASDM
VSTSRILVAVVKMCYEAKEWDLLNENIMLLSKRRSQLKQAVAKMVQQCCTYVEEITDLPI
KLRLIDTLRMVTEGKIYVEIERARLTKTLATIKEQNGDVKEAASILQELQVETYGSMEKK
ERVEFILEQMRLCLAVKDYIRTQIISKKINTKFFQEENTEKLKLKYYNLMIQLDQHEGSY
LSICKHYRAIYDTPCIQAESEKWQQALKSVVLYVILAPFDNEQSDLVHRISGDKKLEEIP
KYKDLLKLFTTMELMRWSTLVEDYGMELRKGSLESPATDVFGSTEEGEKRWKDLKNRVVE
HNIRIMAKYYTRITMKRMAQLLDLSVDESEAFLSNLVVNKTIFAKVDRLAGIINFQR
PKD
PNNLLNDWSQKLNSLMSLVNKTTHLIAKEEMIHNLQ
Sequence length 456
Interactions View interactions

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