PSMD1 (proteasome 26S subunit, non-ATPase 1)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5707
Gene name Gene Name - the full gene name approved by the HGNC.
Proteasome 26S subunit, non-ATPase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PSMD1
Synonyms (NCBI Gene) Gene synonyms aliases
P112, Rpn2, S1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.1
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 Other IDs Associated diseases
Show/Hide all(50)
miRTarBase ID miRNA Experiments Reference
MIRT030387 hsa-miR-24-3p Microarray 19748357
MIRT045451 hsa-miR-149-5p CLASH 23622248
MIRT043445 hsa-miR-331-3p CLASH 23622248
MIRT042702 hsa-miR-346 CLASH 23622248
MIRT042491 hsa-miR-423-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(21)
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 8811196
GO:0005515 Function Protein binding IPI 16990800, 18497817, 18497827, 29804830, 31064842, 33961781, 35271311
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
617842 9554 ENSG00000173692
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID Q99460
Protein name 26S proteasome non-ATPase regulatory subunit 1 (26S proteasome regulatory subunit RPN2) (26S proteasome regulatory subunit S1) (26S proteasome subunit p112)
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 , 5V1Y , 5V1Z , 5VFP , 5VFQ , 5VFR , 5VFS , 5VFT , 5VFU , 5VGZ , 5VHF , 5VHH , 5VHI , 5VHS , 6CO4 , 6MSB , 6MSD , 6MSE , 6MSG , 6MSH , 6MSJ , 6MSK , 6OI4 , 6UYI , 6UYJ , 6WJD , 6WJN , 7QXN , 7QXP , 7QXU , 7QXW , 7QXX , 7QY7 , 7QYA , 7QYB , 7W37 , 7W38 , 7W39 , 7W3A , 7W3B , 7W3C , 7W3F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01851 PC_rep 441 → 474 Proteasome/cyclosome repeat Repeat
PF01851 PC_rep 476 → 510 Proteasome/cyclosome repeat Repeat
PF01851 PC_rep 511 → 545 Proteasome/cyclosome repeat Repeat
PF13646 HEAT_2 599 → 692 Family
PF18004 RPN2_C 786 → 925 26S proteasome regulatory subunit RPN2 C-terminal domain Domain
Sequence 
MITSAAGIISLLDEDEPQLKEFALHKLNAVVNDFWAEISESVDKIEVLYEDEGFRSRQFA
ALVASKVFYHLGAFEESLNYALGAGDLFNVNDNSEYVETIIAKCIDHYTKQCVENADLPE
GEKKPIDQRLEGIVNKMFQRCLDDHKYKQAIGIALETRRLDVFEKTILESNDVPGMLAYS
LKLCMSLMQNKQFRNKVLRVLVKIYMNLEKPDFINVCQCLIFLDDPQAVSDILEKLVKED
NLLMAYQICFDLYESASQQFLSSVIQNLRTVGTPIASVPGSTNTGTVPGSEKDSDSMETE
EKTSSAFVGKTPEASPEPKDQTLKMIKILSGEMAIELHLQFLIRNNNTDLMILKNTKDAV
RNSVCHTATVIANSFMHCGTTSDQFLRDNLEWLARATNWAKFTATASLGVIHKGHEKEAL
QLMATYLPKDTSPGSAYQEGGGLYALGLIHANHGGDIIDYLLNQLKNASNDIVRHGGSLG
LGLAAMGTARQDVYDLLKTNLYQDDAVTGEAAGLALGLVMLGSKNAQAIEDMVGYAQETQ
HEKILRGLAVGIALVMYGRMEEADALIESLCRDKDPILRRSGMYTVAMAYCGSGNNKAIR
RLLHVAVSDVNDDVRRAAVESLGFILFRTPEQCPSVVSLLSESYNPHVRYGAAMALGICC
AGTGNKEAINLLEPMTNDPVNYVRQGALIASALIMIQQTEITCPKVNQFRQLYSKVINDK
HDDVMAKFGAILAQGILDAGGHNVTISLQSRTGHTHMPSVVGVLVFTQFWFWFPLSHFLS
LAYTPTCVIGLNKDLKMPKVQYKSNCKPSTFAYPAPLEVPKEKEKEKVSTAVLSITAKAK
KKEKEKEKKEEEKMEVDEAEKKEEKEKKKEPEPNFQLLDNPARVMPAQLKVLTMPETCRY
QPFKPLSIGGIIILKDTSEDIEELVEPVAAHGPKIEEEEQEPEPPEPFEYIDD
Sequence length 953
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 Other IDs Associated diseases
Show/Hide Unknown Diseases (1)
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
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Show/Hide Text Mining Associations (23)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 25330014
Azoospermia Associate 34738918
Behcet Syndrome Associate 31405953
Breast Neoplasms Stimulate 34839279
Carcinoma Hepatocellular Associate 31703613, 36524514
Diabetes Mellitus Type 1 Associate 12950147
Diabetes Mellitus Type 2 Associate 12950147
Disease Associate 31405953
Duodenal Ulcer Associate 23493000
Gastritis Associate 23493000