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

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 5707
Gene name Proteasome 26S subunit, non-ATPase 1
Gene symbol PSMD1
Synonyms (NCBI Gene)
P112Rpn2S1
Chromosome 2
Chromosome location 2q37.1
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
miRNA miRNA information provided by mirtarbase database.
50
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
617842 9554 ENSG00000173692
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.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
9
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign; Benign rs62193732, rs141191699 RCV005929631
RCV005910355
Adrenocortical carcinoma, hereditary Likely benign rs62193732 RCV005929633
Familial cancer of breast Likely benign rs62193732 RCV005929630
Lung cancer Likely benign rs62193732 RCV005929636
Show/Hide Text Mining Associations (23)
Associations from Text MiningDisease 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