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

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5687
Gene name Gene Name - the full gene name approved by the HGNC.	Proteasome 20S subunit alpha 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PSMA6
Synonyms (NCBI Gene) Gene synonyms aliases	IOTA, PROS27, p27K
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q13.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

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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:0000932	Component	P-body	ISS
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
GO:0003723	Function	RNA binding	IDA	7681138
GO:0003723	Function	RNA binding	NAS	7681138
GO:0004175	Function	Endopeptidase activity	IBA	21873635
GO:0004175	Function	Endopeptidase activity	NAS	7681138
GO:0005515	Function	Protein binding	IPI	14733938, 15225636, 15887188, 16169070, 16990800, 17948026, 18922472, 19490896, 19581590, 25416956, 25959826, 32296183, 32814053
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	7681138
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0005839	Component	Proteasome core complex	IBA	21873635
GO:0005839	Component	Proteasome core complex	ISS
GO:0005839	Component	Proteasome core complex	NAS	1888762
GO:0005844	Component	Polysome	IDA	7681138
GO:0006521	Process	Regulation of cellular amino acid metabolic process	TAS
GO:0010499	Process	Proteasomal ubiquitin-independent protein catabolic process	IBA	21873635
GO:0010972	Process	Negative regulation of G2/M transition of mitotic cell cycle	TAS
GO:0016363	Component	Nuclear matrix	ISS
GO:0016579	Process	Protein deubiquitination	TAS
GO:0019773	Component	Proteasome core complex, alpha-subunit complex	IBA	21873635
GO:0019773	Component	Proteasome core complex, alpha-subunit complex	IDA	9096325, 30133132
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:0031145	Process	Anaphase-promoting complex-dependent catabolic process	TAS
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	TAS
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	TAS
GO:0035639	Function	Purine ribonucleoside triphosphate binding	NAS	7681138
GO:0038061	Process	NIK/NF-kappaB signaling	TAS
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	TAS
GO:0043488	Process	Regulation of mRNA stability	TAS
GO:0043687	Process	Post-translational protein modification	TAS
GO:0050727	Process	Regulation of inflammatory response	IC	16845397
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0051059	Function	NF-kappaB binding	IPI	14743216
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	16845397
GO:0051603	Process	Proteolysis involved in cellular protein catabolic process	IMP	16845397
GO:0055085	Process	Transmembrane transport	TAS
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	TAS
GO:0061418	Process	Regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070498	Process	Interleukin-1-mediated signaling pathway	TAS
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	TAS
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	TAS
GO:1901990	Process	Regulation of mitotic cell cycle phase transition	TAS
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	TAS

MIM	HGNC	e!Ensembl
602855	9535	ENSG00000100902

Protein

UniProt ID

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

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Source
Unknown
Psoriasis	Psoriasis	GWAS
Eczema	Eczema	GWAS
Psoriasis vulgaris	Psoriasis vulgaris	GWAS
Crohn Disease	Crohn Disease	GWAS

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text Mining
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)