PSMA6 (proteasome 20S subunit alpha 6)

Gene

• Entrez ID: 5687
• Gene name: Proteasome 20S subunit alpha 6
• Gene symbol: PSMA6
• Synonyms (NCBI Gene): IOTA, PROS27, p27K
• 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

SNPs

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

miRNA

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

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: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

Other IDs

• MIM: 602855
• HGNC: 9535
• e!Ensembl: 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

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
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial infarction, susceptibility to	Benign; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSMA6-related disorder	Benign; risk factor; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS VULGARIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	36195955	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30898113		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17384448		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	24875235	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	24875235	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	20953189	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	39342401	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17384448		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	17384448		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	17384448	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	20136554		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	20823134		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28165654		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	30898113	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	BEFREE	30898113		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	26634809		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	22882272	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	18158110		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	27671905		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	19282875, 19624571, 22310064, 23111455, 27671905		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	18157711, 19282875, 19624571, 23111455, 27671905		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	27671905	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	19282875, 19624571, 23111455, 27671905		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26634809, 27671905		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26634809, 27671905		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	27671905	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	39342401	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26661414		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17535269, 18358479, 23026512		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	17555133		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30287505		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	15205934		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	19182073, 22882272		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	20136554, 24875235		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	30287505		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	27671905	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	27671905		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19101699		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	19101699		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28165654, 32673827	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28165654		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17570678, 28165654		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	20408869		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	32596371	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	16845397, 17384448, 18231128, 18358479, 19182073, 19272601, 19624571, 20408869, 22310064, 22882272, 27671905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	LHGDN	16845397		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	16845397		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	17384448, 22882272, 27671905	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	17570678		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24455213	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	22158041		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	22158041	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30898113	Associate	★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	BEFREE	20136554		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	20953189	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	31151297		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27966459	Stimulate	★☆☆☆☆ Found in Text Mining only