PSMD14 (proteasome 26S subunit, non-ATPase 14)

Gene

• Entrez ID: 10213
• Gene name: Proteasome 26S subunit, non-ATPase 14
• Gene symbol: PSMD14
• Synonyms (NCBI Gene): PAD1, POH1, RPN11
• Chromosome: 2
• Chromosome location: 2q24.2
• Summary: This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT046307	hsa-miR-23b-3p	CLASH	23622248
MIRT1270460	hsa-miR-1322	CLIP-seq
MIRT1270461	hsa-miR-186	CLIP-seq
MIRT1270462	hsa-miR-2276	CLIP-seq
MIRT1270463	hsa-miR-2355-3p	CLIP-seq
MIRT1270464	hsa-miR-25	CLIP-seq
MIRT1270465	hsa-miR-302f	CLIP-seq
MIRT1270466	hsa-miR-3125	CLIP-seq
MIRT1270467	hsa-miR-3133	CLIP-seq
MIRT1270468	hsa-miR-3171	CLIP-seq
MIRT1270469	hsa-miR-32	CLIP-seq
MIRT1270470	hsa-miR-363	CLIP-seq
MIRT1270471	hsa-miR-3667-5p	CLIP-seq
MIRT1270472	hsa-miR-367	CLIP-seq
MIRT1270473	hsa-miR-3914	CLIP-seq
MIRT1270474	hsa-miR-3916	CLIP-seq
MIRT1270475	hsa-miR-4257	CLIP-seq
MIRT1270476	hsa-miR-4282	CLIP-seq
MIRT1270477	hsa-miR-4436b-5p	CLIP-seq
MIRT1270478	hsa-miR-4480	CLIP-seq
MIRT1270479	hsa-miR-4646-3p	CLIP-seq
MIRT1270480	hsa-miR-4662a-5p	CLIP-seq
MIRT1270481	hsa-miR-4694-5p	CLIP-seq
MIRT1270482	hsa-miR-4725-5p	CLIP-seq
MIRT1270483	hsa-miR-4732-3p	CLIP-seq
MIRT1270484	hsa-miR-4744	CLIP-seq
MIRT1270485	hsa-miR-4772-3p	CLIP-seq
MIRT1270486	hsa-miR-4780	CLIP-seq
MIRT1270487	hsa-miR-4789-5p	CLIP-seq
MIRT1270488	hsa-miR-493	CLIP-seq
MIRT1270489	hsa-miR-495	CLIP-seq
MIRT1270490	hsa-miR-504	CLIP-seq
MIRT1270491	hsa-miR-512-3p	CLIP-seq
MIRT1270492	hsa-miR-518a-5p	CLIP-seq
MIRT1270493	hsa-miR-527	CLIP-seq
MIRT1270494	hsa-miR-568	CLIP-seq
MIRT1270495	hsa-miR-582-5p	CLIP-seq
MIRT1270496	hsa-miR-600	CLIP-seq
MIRT1270497	hsa-miR-623	CLIP-seq
MIRT1270498	hsa-miR-630	CLIP-seq
MIRT1270499	hsa-miR-664	CLIP-seq
MIRT1270500	hsa-miR-92a	CLIP-seq
MIRT1270501	hsa-miR-92b	CLIP-seq
MIRT1270478	hsa-miR-4480	CLIP-seq
MIRT1270480	hsa-miR-4662a-5p	CLIP-seq
MIRT1270496	hsa-miR-600	CLIP-seq
MIRT1270460	hsa-miR-1322	CLIP-seq
MIRT1270480	hsa-miR-4662a-5p	CLIP-seq
MIRT1270496	hsa-miR-600	CLIP-seq
MIRT1270460	hsa-miR-1322	CLIP-seq
MIRT1270466	hsa-miR-3125	CLIP-seq
MIRT2603089	hsa-miR-3672	CLIP-seq
MIRT2603090	hsa-miR-3910	CLIP-seq
MIRT1270473	hsa-miR-3914	CLIP-seq
MIRT1270474	hsa-miR-3916	CLIP-seq
MIRT1270475	hsa-miR-4257	CLIP-seq
MIRT1270478	hsa-miR-4480	CLIP-seq
MIRT2603091	hsa-miR-4493	CLIP-seq
MIRT2603092	hsa-miR-4499	CLIP-seq
MIRT1270480	hsa-miR-4662a-5p	CLIP-seq
MIRT1270481	hsa-miR-4694-5p	CLIP-seq
MIRT1270486	hsa-miR-4780	CLIP-seq
MIRT1270487	hsa-miR-4789-5p	CLIP-seq
MIRT1270488	hsa-miR-493	CLIP-seq
MIRT1270491	hsa-miR-512-3p	CLIP-seq
MIRT1270495	hsa-miR-582-5p	CLIP-seq
MIRT1270496	hsa-miR-600	CLIP-seq
MIRT1270497	hsa-miR-623	CLIP-seq
MIRT2603093	hsa-miR-633	CLIP-seq
MIRT1270460	hsa-miR-1322	CLIP-seq
MIRT1270466	hsa-miR-3125	CLIP-seq
MIRT2603089	hsa-miR-3672	CLIP-seq
MIRT2603090	hsa-miR-3910	CLIP-seq
MIRT1270473	hsa-miR-3914	CLIP-seq
MIRT1270474	hsa-miR-3916	CLIP-seq
MIRT1270475	hsa-miR-4257	CLIP-seq
MIRT1270478	hsa-miR-4480	CLIP-seq
MIRT2603091	hsa-miR-4493	CLIP-seq
MIRT2603092	hsa-miR-4499	CLIP-seq
MIRT1270480	hsa-miR-4662a-5p	CLIP-seq
MIRT1270481	hsa-miR-4694-5p	CLIP-seq
MIRT1270486	hsa-miR-4780	CLIP-seq
MIRT1270487	hsa-miR-4789-5p	CLIP-seq
MIRT1270488	hsa-miR-493	CLIP-seq
MIRT1270491	hsa-miR-512-3p	CLIP-seq
MIRT1270495	hsa-miR-582-5p	CLIP-seq
MIRT1270496	hsa-miR-600	CLIP-seq
MIRT1270497	hsa-miR-623	CLIP-seq
MIRT2603093	hsa-miR-633	CLIP-seq

Gene ontology (GO)

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	9374539, 19214193
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	22909820
GO:0005515	Function	Protein binding	IPI	19615732, 25416956, 25959826, 26496610, 28514442, 32296183, 32814053, 33961781, 35100873
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IMP	22909820
GO:0006508	Process	Proteolysis	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	TAS	9374539
GO:0006974	Process	DNA damage response	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	TAS	19214193
GO:0008541	Component	Proteasome regulatory particle, lid subcomplex	IBA
GO:0008541	Component	Proteasome regulatory particle, lid subcomplex	IMP	22909820
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0022624	Component	Proteasome accessory complex	IEA
GO:0022624	Component	Proteasome accessory complex	ISS
GO:0031597	Component	Cytosolic proteasome complex	IEA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	19489727
GO:0045471	Process	Response to ethanol	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061133	Function	Endopeptidase activator activity	IMP	18162577
GO:0061136	Process	Regulation of proteasomal protein catabolic process	IMP	18162577
GO:0061578	Function	K63-linked deubiquitinase activity	TAS
GO:0070536	Process	Protein K63-linked deubiquitination	IMP	22909820
GO:0070536	Process	Protein K63-linked deubiquitination	TAS	19214193
GO:0070628	Function	Proteasome binding	IBA
GO:0070628	Function	Proteasome binding	IDA	18162577
GO:0140492	Function	Metal-dependent deubiquitinase activity	IBA
GO:0140492	Function	Metal-dependent deubiquitinase activity	IEA
GO:0140492	Function	Metal-dependent deubiquitinase activity	IMP	22909820
GO:0140492	Function	Metal-dependent deubiquitinase activity	TAS	19214193
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 607173
• HGNC: 16889
• e!Ensembl: ENSG00000115233

Protein

• UniProt ID: O00487
• Protein name: 26S proteasome non-ATPase regulatory subunit 14 (EC 3.4.19.-) (26S proteasome regulatory subunit RPN11) (26S proteasome-associated PAD1 homolog 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, 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
  PF01398	JAB	26 → 139	JAB1/Mov34/MPN/PAD-1 ubiquitin protease	Family
  PF13012	MitMem_reg	173 → 307	Maintenance of mitochondrial structure and function	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Highest levels in heart and skeletal muscle. {ECO:0000269|PubMed:9374539}.
• Sequence:

  MDRLLRLGGGMPGLGQGPPTDAPAVDTAEQVYISSLALLKMLKHGRAGVPMEVMGLMLGE
  FVDDYTVRVIDVFAMPQSGTGVSVEAVDPVFQAKMLDMLKQTGRPEMVVGWYHSHPGFGC
  WLSGVDINTQQSFEALSERAVAVVVDPIQSVKGKVVIDAFRLINANMMVLGHEPRQTTSN
  LGHLNKPSIQALIHGLNRHYYSITINYRKNELEQKMLLNLHKKSWMEGLTLQDYSEHCKH
  NESVVKEMLELAKNYNKAVEEEDKMTPEQLAIKNVGKQDPKRHLEEHVDVLMTSNIVQCL
  AAMLDTVVFK

• Sequence length: 310

Pathways

KEGG:

Proteasome
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Epstein-Barr virus infection

Reactome:

Activation of NF-kappaB in B cells
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Cross-presentation of soluble exogenous antigens (endosomes)
Autodegradation of Cdh1 by Cdh1:APC/C
SCF-beta-TrCP mediated degradation of Emi1
APC/C:Cdc20 mediated degradation of Securin
APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
Cdc20:Phospho-APC/C mediated degradation of Cyclin A
Vpu mediated degradation of CD4
Vif-mediated degradation of APOBEC3G
SCF(Skp2)-mediated degradation of p27/p21
Degradation of beta-catenin by the destruction complex
Downstream TCR signaling
Separation of Sister Chromatids
FCERI mediated NF-kB activation
Autodegradation of the E3 ubiquitin ligase COP1
Regulation of ornithine decarboxylase (ODC)
ABC-family proteins mediated transport
AUF1 (hnRNP D0) binds and destabilizes mRNA
Asymmetric localization of PCP proteins
Degradation of AXIN
Degradation of DVL
Hedgehog ligand biogenesis
Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
Dectin-1 mediated noncanonical NF-kB signaling
CLEC7A (Dectin-1) signaling
Degradation of GLI1 by the proteasome
GLI3 is processed to GLI3R by the proteasome
Hedgehog 'on' state
Regulation of RAS by GAPs
TNFR2 non-canonical NF-kB pathway
NIK-->noncanonical NF-kB signaling
Defective CFTR causes cystic fibrosis
MAPK6/MAPK4 signaling
UCH proteinases
Ub-specific processing proteases
Metalloprotease DUBs
Neutrophil degranulation
CDT1 association with the CDC6:ORC:origin complex
Orc1 removal from chromatin
CDK-mediated phosphorylation and removal of Cdc6
G2/M Checkpoints
Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
Ubiquitin-dependent degradation of Cyclin D
The role of GTSE1 in G2/M progression after G2 checkpoint
FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
RUNX1 regulates transcription of genes involved in differentiation of HSCs
Regulation of RUNX2 expression and activity
Regulation of RUNX3 expression and activity
Regulation of PTEN stability and activity
Neddylation
Interleukin-1 signaling
Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Alzheimer Disease	Inhibit	27050411	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Associate	29848990	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Stimulate	34839279	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	38017133	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	28653889, 31685442	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	34745496	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	31685442	★☆☆☆☆ Found in Text Mining only
Disease	Associate	24625750	★☆☆☆☆ Found in Text Mining only
DNA Repair Deficiency Disorders	Associate	34975746	★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	24005050, 34383385	★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	33154524	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	37935198	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Stimulate	34383385	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	31685442, 35750900, 37975230	★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	34383385, 36328147, 36632137	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Associate	34383385	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Stimulate	34382324, 36328147	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	37349676	★☆☆☆☆ Found in Text Mining only
Pre Eclampsia	Associate	36421809	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	35750900	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Stimulate	36632137	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	37975230	★☆☆☆☆ Found in Text Mining only
Varicocele	Associate	34975746	★☆☆☆☆ Found in Text Mining only