Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

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

33 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

48 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
PF00227	Proteasome	32 → 220	Proteasome subunit	Domain
PF10584	Proteasome_A_N	9 → 31	Proteasome subunit A N-terminal signature	Family

Sequence

MSRGSSAGFDRHITIFSPEGRLYQVEYAFKAINQGGLTSVAVRGKDCAVIVTQKKVPDKL
LDSSTVTHLFKITENIGCVMTGMTADSRSQVQRARYEAANWKYKYGYEIPVDMLCKRIAD
ISQVYTQNAEMRPLGCCMILIGIDEEQGPQVYKCDPAGYYCGFKATAAGVKQTESTSFLE
KKVKKKFDWTFEQTVETAITCLSTVLSIDFKPSEIEVGVVTVENPKFRILTEAEIDAHLV
ALAERD

Sequence length

246

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Proteasome	Activation of NF-kappaB in B cells
Alzheimer disease	Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Parkinson disease	Cross-presentation of soluble exogenous antigens (endosomes)
Amyotrophic lateral sclerosis	Autodegradation of Cdh1 by Cdh1:APC/C
Huntington disease	SCF-beta-TrCP mediated degradation of Emi1
Spinocerebellar ataxia	APC/C:Cdc20 mediated degradation of Securin
Prion disease	APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
Pathways of neurodegeneration - multiple diseases	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

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (14)
ANKYLOSING SPONDYLITIS	—	GWAS catalog	26974007	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	29083406, 31361310	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	25574825, 35577104	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	26974007, 37262302	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	37262302	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	25574825	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	16845397	★★★★★ ★★☆☆☆ 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	20953190, 23143594, 25574825, 25854761, 25903422, 26974007, 33385400, 39024449, 39789286, 39885523	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS VULGARIS	—	GWAS catalog	26626624, 39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	26974007	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	33385400	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	26974007	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (58)
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	Pubtator	17384448	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	17384448		★★★★★ ★☆☆☆☆ Found in Text Mining only

PSMA6 (proteasome 20S subunit alpha 6)

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