PSMA6

proteasome 20S subunit alpha 6, the group of Proteasome

Basic information

Region (hg38): 14:35278632-35317493

Links

ENSG00000100902 ∙ NCBI:5687 ∙ OMIM:602855 ∙ HGNC:9535 ∙ Uniprot:P60900 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PSMA6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PSMA6 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1	1	2
Total	0	0	7	1	1

Variants in PSMA6

This is a list of pathogenic ClinVar variants found in the PSMA6 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-35278712-C-T		PSMA6-related disorder	Benign (Nov 04, 2019)
14-35292469-C-G		Myocardial infarction, susceptibility to • PSMA6-related disorder	Benign (Oct 18, 2019)
14-35292481-C-T		not specified	Uncertain significance (Jun 07, 2023)
14-35292519-A-G		not specified	Uncertain significance (Dec 01, 2022)
14-35292544-A-G		not specified	Uncertain significance (Oct 04, 2022)
14-35308030-C-T		not specified	Uncertain significance (Jun 07, 2024)
14-35308904-T-G		PSMA6-related disorder	Likely benign (Mar 22, 2019)
14-35312899-T-C		not specified	Uncertain significance (May 24, 2023)
14-35313018-G-A		not specified	Uncertain significance (Apr 18, 2023)
14-35314427-G-A		not specified	Uncertain significance (Nov 03, 2022)
14-35317287-C-G		not specified	Uncertain significance (Mar 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PSMA6	protein_coding	protein_coding	ENST00000261479	7	38861

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.986	0.0138	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.41	53	130	0.407	0.00000598	1606
Missense in Polyphen		11	35.42	0.31056		417
Synonymous	-0.663	50	44.4	1.13	0.00000216	460
Loss of Function	3.34	0	13.0	0.00	5.44e-7	173

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: 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 two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). {ECO:0000269|PubMed:15244466, ECO:0000269|PubMed:27176742, ECO:0000269|PubMed:8610016}.
• Pathway: Proteasome - Homo sapiens (human);Proteasome Degradation;TLR NFkB;proteasome complex;B cell receptor signaling;Post-translational protein modification;Metabolism of proteins;DroToll-like;Notch;Hedgehog;IL-1 NFkB;IL-1 p38;IL-1 JNK;TGF-beta super family signaling pathway canonical;TLR p38;UCH proteinases;Neddylation;Ub-specific processing proteases;JAK STAT pathway and regulation;Deubiquitination;TLR JNK;TNF;Wnt Canonical;Wnt Mammals;CD4 T cell receptor signaling-NFkB cascade;CD4 T cell receptor signaling (Consensus)

Recessive Scores

• pRec: 0.388

Intolerance Scores

• loftool: 0.110
• rvis_EVS: -0.01
• rvis_percentile_EVS: 53.19

Haploinsufficiency Scores

• pHI: 0.988
• hipred: Y
• hipred_score: 0.794
• ghis: 0.521

Essentials

• essential_gene_CRISPR: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.999

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Mouse Genome Informatics

• Gene name: Psma6

Gene ontology

• Biological process: proteasomal protein catabolic process;proteasomal ubiquitin-independent protein catabolic process;protein deubiquitination;proteasome-mediated ubiquitin-dependent protein catabolic process;post-translational protein modification;regulation of inflammatory response;positive regulation of NF-kappaB transcription factor activity;proteolysis involved in cellular protein catabolic process
• Cellular component: proteasome complex;P-body;nucleus;nucleoplasm;cytoplasm;cytosol;proteasome core complex;polysome;nuclear matrix;proteasome core complex, alpha-subunit complex;myofibril;sarcomere;extracellular exosome
• Molecular function: RNA binding;endopeptidase activity;threonine-type endopeptidase activity;protein binding;purine ribonucleoside triphosphate binding;NF-kappaB binding