Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5687
Gene name	Proteasome 20S subunit alpha 6
Gene symbol	PSMA6
Synonyms (NCBI Gene)	IOTAPROS27p27K
Chromosome	14
Chromosome location	14q13.2
Summary	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1048990	C>G,T	Risk-factor	Intron variant, non coding transcript variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant

Show/Hide all (33)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051579	hsa-let-7e-5p	CLASH	23622248
MIRT044130	hsa-miR-30e-5p	CLASH	23622248
MIRT1270054	hsa-miR-3976	CLIP-seq
MIRT1270055	hsa-miR-4312	CLIP-seq
MIRT1270056	hsa-miR-944	CLIP-seq
MIRT2079427	hsa-miR-4490	CLIP-seq
MIRT2079428	hsa-miR-4642	CLIP-seq
MIRT2079429	hsa-miR-4774-5p	CLIP-seq
MIRT2079430	hsa-miR-4781-3p	CLIP-seq
MIRT2305679	hsa-miR-1305	CLIP-seq
MIRT2305680	hsa-miR-3649	CLIP-seq
MIRT1270054	hsa-miR-3976	CLIP-seq
MIRT2305681	hsa-miR-4266	CLIP-seq
MIRT2305682	hsa-miR-4481	CLIP-seq
MIRT2079427	hsa-miR-4490	CLIP-seq
MIRT2305683	hsa-miR-4536	CLIP-seq
MIRT2079428	hsa-miR-4642	CLIP-seq
MIRT2305684	hsa-miR-4685-5p	CLIP-seq
MIRT2305685	hsa-miR-4695-5p	CLIP-seq
MIRT2305686	hsa-miR-4745-5p	CLIP-seq
MIRT2079429	hsa-miR-4774-5p	CLIP-seq
MIRT2305687	hsa-miR-4779	CLIP-seq
MIRT2079430	hsa-miR-4781-3p	CLIP-seq
MIRT2305688	hsa-miR-765	CLIP-seq
MIRT1270054	hsa-miR-3976	CLIP-seq
MIRT2457327	hsa-miR-2467-5p	CLIP-seq
MIRT2305681	hsa-miR-4266	CLIP-seq
MIRT2305682	hsa-miR-4481	CLIP-seq
MIRT2305683	hsa-miR-4536	CLIP-seq
MIRT2305685	hsa-miR-4695-5p	CLIP-seq
MIRT2305686	hsa-miR-4745-5p	CLIP-seq
MIRT2305687	hsa-miR-4779	CLIP-seq
MIRT2305688	hsa-miR-765	CLIP-seq

Show/Hide all (48)

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:0000932	Component	P-body	IEA
GO:0000932	Component	P-body	ISS
GO:0003723	Function	RNA binding	IDA	7681138
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	NAS	7681138
GO:0004175	Function	Endopeptidase activity	NAS	7681138
GO:0005515	Function	Protein binding	IPI	12376572, 14733938, 15225636, 15887188, 16169070, 16990800, 17948026, 18922472, 19490896, 19581590, 25416956, 25959826, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	34711951
GO:0005634	Component	Nucleus	IDA	7681138
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	34711951
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005839	Component	Proteasome core complex	IDA	34711951
GO:0005839	Component	Proteasome core complex	IEA
GO:0005839	Component	Proteasome core complex	ISS
GO:0005839	Component	Proteasome core complex	NAS	1888762
GO:0005840	Component	Ribosome	IDA	7681138
GO:0005929	Component	Cilium	IDA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0016363	Component	Nuclear matrix	IEA
GO:0016363	Component	Nuclear matrix	ISS
GO:0019773	Component	Proteasome core complex, alpha-subunit complex	IBA
GO:0019773	Component	Proteasome core complex, alpha-subunit complex	IDA	9096325, 30133132
GO:0019773	Component	Proteasome core complex, alpha-subunit complex	IEA
GO:0019773	Component	Proteasome core complex, alpha-subunit complex	ISS
GO:0019773	Component	Proteasome core complex, alpha-subunit complex	TAS	11917093
GO:0030016	Component	Myofibril	ISS
GO:0030017	Component	Sarcomere	ISS
GO:0035639	Function	Purine ribonucleoside triphosphate binding	NAS	7681138
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	16845397
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	19489727
GO:0050727	Process	Regulation of inflammatory response	IMP	16845397
GO:0051059	Function	NF-kappaB binding	IPI	14743216
GO:0051603	Process	Proteolysis involved in protein catabolic process	IEA
GO:0051603	Process	Proteolysis involved in protein catabolic process	IMP	16845397
GO:0070062	Component	Extracellular exosome	HDA	20458337

MIM	HGNC	e!Ensembl
602855	9535	ENSG00000100902

P60900

Protein name

Proteasome subunit alpha type-6 (27 kDa prosomal protein) (PROS-27) (p27K) (Macropain iota chain) (Multicatalytic endopeptidase complex iota chain) (Proteasome iota chain) (Proteasome subunit alpha-1) (alpha-1)

Protein function

Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with

PDB

4R3O , 4R67 , 5A0Q , 5GJQ , 5GJR , 5L4G , 5LE5 , 5LEX , 5LEY , 5LEZ , 5LF0 , 5LF1 , 5LF3 , 5LF4 , 5LF6 , 5LF7 , 5LN3 , 5M32 , 5T0C , 5T0G , 5T0H , 5T0I , 5T0J , 5VFO , 5VFP , 5VFQ , 5VFR , 5VFS , 5VFT , 5VFU , 6AVO , 6E5B , 6KWY , 6MSB , 6MSD , 6MSG , 6MSH , 6MSK , 6R70 , 6REY , 6RGQ , 6WJD , 6WJN , 6XMJ , 7AWE , 7B12 , 7LXV , 7NAN , 7NAO , 7NAP , 7NAQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10584	Proteasome_A_N	9 → 31	Proteasome subunit A N-terminal signature	Family
PF00227	Proteasome	32 → 220	Proteasome subunit	Domain

Sequence

MSRGSSAGFDRHITIFSPEGRLYQVEYAFKAINQGGLTSVAVRGKDCAVIVTQKKVPDKL
LDSSTVTHLFKITENIGCVMTGMTADSRSQVQRARYEAANWKYKYGYEIPVDMLCKRIAD
ISQVYTQNAEMRPLGCCMILIGIDEEQGPQVYKCDPAGYYCGFKATAAGVKQTESTSFLE
KKVKKKFDWTFEQTVETAITCLSTVLSIDFKPSEIEVGVVTVENPKFRILTEAEIDAHLV
ALAERD

Sequence length

246

Interactions

View interactions

	KEGG		Reactome
	Proteasome Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Spinocerebellar ataxia Prion disease Pathways of neurodegeneration - multiple diseases		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 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

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Myocardial infarction, susceptibility to	Benign; risk factor	rs1048990	RCV001799589
PSMA6-related disorder	Benign; risk factor; Likely benign	rs1048990, rs17103147, rs186794633	RCV003982829 RCV003977315 RCV003954753

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	36195955
Arthritis	Associate	24875235
Arthritis Juvenile	Associate	24875235
Arthritis Psoriatic	Associate	20953189
Arthritis Rheumatoid	Associate	39342401
Atherosclerosis	Associate	17384448
Carcinoma Pancreatic Ductal	Associate	30898113
Cerebral Infarction	Associate	22882272
Coronary Artery Disease	Associate	27671905
Diabetes Mellitus	Associate	27671905
Diabetes Mellitus Type 2	Inhibit	39342401
Inflammation	Associate	17384448
Kidney Failure Chronic	Associate	27671905
Lung Neoplasms	Associate	28165654, 32673827
Multiple Myeloma	Associate	32596371
Myocardial Infarction	Associate	17384448, 22882272, 27671905
Obesity	Associate	24455213
Osteosarcoma	Associate	22158041
Pancreatic Neoplasms	Associate	30898113
Psoriasis	Associate	20953189
Stomach Neoplasms	Stimulate	27966459
Systemic Inflammatory Response Syndrome	Associate	27671905

PSMA6 (proteasome 20S subunit alpha 6)