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Aliases for PSMA1 Gene

Aliases for PSMA1 Gene

  • Proteasome Subunit Alpha 1 2 3 5
  • Proteasome (Prosome, Macropain) Subunit, Alpha Type, 1 2 3
  • Multicatalytic Endopeptidase Complex Subunit C2 3 4
  • Proteasome Subunit Alpha Type-1 3 4
  • Proteasome Component C2 3 4
  • 30 KDa Prosomal Protein 3 4
  • Macropain Subunit C2 3 4
  • Proteasome Nu Chain 3 4
  • EC 3.4.25.1 4 56
  • PROS-30 3 4
  • PROS30 3 4
  • HC2 3 4
  • NU 3 4
  • Epididymis Secretory Protein Li 275 3
  • Proteasome Subunit, Alpha-Type, 1 3
  • Testicular Tissue Protein Li 150 3
  • Proteasome Subunit Nu 3
  • Macropain Subunit Nu 3
  • Protein P30-33K 3
  • HEL-S-275 3
  • PSC2 4

External Ids for PSMA1 Gene

Previous GeneCards Identifiers for PSMA1 Gene

  • GC11M015706
  • GC11M015274
  • GC11M014565
  • GC11M014490
  • GC11M014482
  • GC11M014207

Summaries for PSMA1 Gene

Entrez Gene Summary for PSMA1 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 subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]

GeneCards Summary for PSMA1 Gene

PSMA1 (Proteasome Subunit Alpha 1) is a Protein Coding gene. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and RET signaling. Gene Ontology (GO) annotations related to this gene include RNA binding and threonine-type endopeptidase activity. An important paralog of this gene is ENSG00000256206.

UniProtKB/Swiss-Prot for PSMA1 Gene

  • 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).

Gene Wiki entry for PSMA1 Gene

Additional gene information for PSMA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSMA1 Gene

Genomics for PSMA1 Gene

GeneHancer (GH) Regulatory Elements for PSMA1 Gene

Promoters and enhancers for PSMA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J014642 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 600.7 -2.2 -2155 6.8 ZFX ELF3 ZKSCAN8 MNT ZNF148 POLR2A MLLT1 GTF2F1 AHR PRDM1 PSMA1 PDE3B COPB1 MORF4L1P3
GH11J014518 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 600.1 +123.7 123699 3 ZNF652 CC2D1A SP1 ZFX ELF3 SIX5 ZNF148 NKRF POLR2A MLLT1 ENSG00000256206 PSMA1 COPB1 SPON1 RRAS2
GH11J014513 Promoter 0.5 EPDnew 600.1 +130.1 130084 0.1 PSMA1 RNU7-49P ENSG00000256206 COPB1
GH11J014611 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 12 +29.5 29534 9.4 ZNF652 TFE3 SP1 HNF1A PPARG ZNF644 RXRA RXRB FOXA2 ATF3 PSMA1 PDE3B COPB1 PIR39085
GH11J014618 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.8 +23.4 23379 2.7 ZNF652 ELF3 CEBPG RERE MAFK SP1 HNF1A PPARG RXRA SOX13 PSMA1 PDE3B COPB1 PIR39085
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PSMA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PSMA1 gene promoter:
  • AREB6
  • C/EBPalpha
  • GR
  • GR-alpha
  • Lmo2
  • p53

Genomic Locations for PSMA1 Gene

Genomic Locations for PSMA1 Gene
chr11:14,504,874-14,643,635
(GRCh38/hg38)
Size:
138,762 bases
Orientation:
Minus strand
chr11:14,515,329-14,665,181
(GRCh37/hg19)
Size:
149,853 bases
Orientation:
Minus strand

Genomic View for PSMA1 Gene

Genes around PSMA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSMA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSMA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSMA1 Gene

Proteins for PSMA1 Gene

  • Protein details for PSMA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25786-PSA1_HUMAN
    Recommended name:
    Proteasome subunit alpha type-1
    Protein Accession:
    P25786
    Secondary Accessions:
    • A8K400
    • Q53YE8
    • Q9BRV9

    Protein attributes for PSMA1 Gene

    Size:
    263 amino acids
    Molecular mass:
    29556 Da
    Quaternary structure:
    • The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is a barrel-shaped complex made of 28 subunits that are arranged in four stacked rings. The two outer rings are each formed by seven alpha subunits, and the two inner rings are formed by seven beta subunits. The proteolytic activity is exerted by three beta-subunits PSMB5, PSMB6 and PSMB7. Interacts with NOTCH3. Interacts with ZFAND1 (PubMed:29804830).

    Three dimensional structures from OCA and Proteopedia for PSMA1 Gene

    Alternative splice isoforms for PSMA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSMA1 Gene

Selected DME Specific Peptides for PSMA1 Gene

P25786:
  • KNVSIGIVG
  • THAVLVALKR
  • GVGLLIAGYD
  • EYAMEAV
  • RPYGVGLL
  • KQGSATVG
  • ARTYLERH
  • EFTIYDDDDV
  • HGLRALRET
  • GLTADAR

Post-translational modifications for PSMA1 Gene

  • Ubiquitination at isoforms=2115, isoforms=2208, isoforms=2256, posLast=189189, posLast=243243, isoforms=230, and isoforms=250
  • Glycosylation at isoforms=2110
  • Modification sites at PhosphoSitePlus

Other Protein References for PSMA1 Gene

Domains & Families for PSMA1 Gene

Gene Families for PSMA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PSMA1 Gene

GenScript: Design optimal peptide antigens:
  • Proteasome subunit alpha type (B4DEV8_HUMAN)
  • Proteasome nu chain (PSA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P25786

UniProtKB/Swiss-Prot:

PSA1_HUMAN :
  • Belongs to the peptidase T1A family.
Family:
  • Belongs to the peptidase T1A family.
genes like me logo Genes that share domains with PSMA1: view

Function for PSMA1 Gene

Molecular function for PSMA1 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Cleavage of peptide bonds with very broad specificity.; EC=3.4.25.1; Evidence={ECO:0000255 PROSITE-ProRule:PRU00808, ECO:0000269 PubMed:27176742};.
UniProtKB/Swiss-Prot Induction:
Induced in breast cancer tissue (at protein level). Up-regulated in liver tumor tissues.
GENATLAS Biochemistry:
multicatalytic proteinase complex (20S) proteasome (prosome,macropain) component,alpha type 1,subunit Pros30,30kDa

Enzyme Numbers (IUBMB) for PSMA1 Gene

Phenotypes From GWAS Catalog for PSMA1 Gene

Gene Ontology (GO) - Molecular Function for PSMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001530 lipopolysaccharide binding IEA --
GO:0003723 RNA binding TAS 7681138
GO:0004175 endopeptidase activity IBA 21873635
GO:0004298 threonine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 12376572
genes like me logo Genes that share ontologies with PSMA1: view
genes like me logo Genes that share phenotypes with PSMA1: view

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for PSMA1
  • Applied Biological Materials (abm): Clones for PSMA1 - Now 50% OFF >
  • * PSMA1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PSMA1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSMA1 Gene

Localization for PSMA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSMA1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PSMA1 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 4
extracellular 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PSMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex TAS,IDA 17323924
GO:0005634 nucleus TAS,IDA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA 21873635
GO:0005813 centrosome IDA --
genes like me logo Genes that share ontologies with PSMA1: view

Pathways & Interactions for PSMA1 Gene

PathCards logo

SuperPathways for PSMA1 Gene

SuperPathway Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
.78
.31
2 RET signaling
3 Chks in Checkpoint Regulation
4 HIV Life Cycle
.45
5 Class I MHC mediated antigen processing and presentation
genes like me logo Genes that share pathways with PSMA1: view

Gene Ontology (GO) - Biological Process for PSMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000209 protein polyubiquitination TAS --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002376 immune system process IEA --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
genes like me logo Genes that share ontologies with PSMA1: view

No data available for SIGNOR curated interactions for PSMA1 Gene

Drugs & Compounds for PSMA1 Gene

(17) Drugs for PSMA1 Gene - From: DrugBank, ApexBio, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bortezomib Approved, Investigational Pharma inhibitor, other Proteosome and NF-kappaB inhibitor, Other, Proteasome inhibitors 869
carfilzomib Approved, Investigational Pharma other, Inhibitor Other, 20S Proteasome Inhibitor 0
(3AR,6R,6AS)-6-((S)-((S)-CYCLOHEX-2-ENYL)(HYDROXY)METHYL)-6A-METHYL-4-OXO-HEXAHYDRO-2H-FURO[3,2-C]PYRROLE-6-CARBALDEHYDE Experimental Pharma Target 0
AM 114 Pharma 20S proteasome inhibitor 0
Bortezomib (PS-341) Pharma Proteasome Inhibitor 0

(14) ApexBio Compounds for PSMA1 Gene

Compound Action Cas Number
AM 114 20S proteasome inhibitor 856849-35-9
Bortezomib (PS-341) Proteasome Inhibitor 179324-69-7
Carfilzomib (PR-171) Proteasome inhibitor,epoxomicin analog 868540-17-4
Celastrol Antioxidant, anti-inflammatory and immunosuppressive agent 34157-83-0
CEP-18770 Proteasome inhibitor 847499-27-8
Dihydroeponemycin Proteasome inhibitor,antitumor reagent,eponemycin ddrivative 126463-64-7
Epoxomicin Proteasome inhibitor 134381-21-8
MG-132 Proteasome inhibitor, Cell permeable, reversible 133407-82-6
MLN2238 β5 site of the 20S proteasome inhibitor 1072833-77-2
MLN9708 Proteasome inhibitor 1201902-80-8
ONX-0914 (PR-957) Immunoproteasome inhibitor,potent and selective 960374-59-8
Oprozomib (ONX-0912) Proteasome inhibitor 935888-69-0
PI-1840 Chymotrypsin-like (CT-L) inhibitor 1401223-22-0
PSI Proteasome inhibitor 158442-41-2
genes like me logo Genes that share compounds with PSMA1: view

Transcripts for PSMA1 Gene

mRNA/cDNA for PSMA1 Gene

Unigene Clusters for PSMA1 Gene

Proteasome (prosome, macropain) subunit, alpha type, 1:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for PSMA1
  • Applied Biological Materials (abm): Clones for PSMA1 - Now 50% OFF >
  • * PSMA1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PSMA1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for PSMA1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c
SP1: - - - - -
SP2: - - - -
SP3: - - - -
SP4:
SP5: -
SP6:
SP7: - -
SP8: -
SP9: -

Relevant External Links for PSMA1 Gene

GeneLoc Exon Structure for
PSMA1
ECgene alternative splicing isoforms for
PSMA1

Expression for PSMA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PSMA1 Gene

Protein differential expression in normal tissues from HIPED for PSMA1 Gene

This gene is overexpressed in Liver, secretome (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PSMA1 Gene



Protein tissue co-expression partners for PSMA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PSMA1 Gene:

PSMA1

SOURCE GeneReport for Unigene cluster for PSMA1 Gene:

Hs.102798

Evidence on tissue expression from TISSUES for PSMA1 Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Bone marrow(4.4)
  • Intestine(2.4)
  • Lymph node(2.4)
  • Muscle(2.3)
  • Thyroid gland(2.3)
  • Lung(2.2)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with PSMA1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSMA1 Gene

Orthologs for PSMA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PSMA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSMA1 35 34
  • 99.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 35
  • 98 (a)
ManyToMany
-- 35
  • 97 (a)
ManyToMany
-- 35
  • 96 (a)
ManyToMany
-- 35
  • 95 (a)
ManyToMany
PSMA1 34
  • 94.55 (n)
-- 35
  • 90 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 98 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 96 (a)
OneToMany
cow
(Bos Taurus)
Mammalia PSMA1 35 34
  • 94.17 (n)
OneToMany
mouse
(Mus musculus)
Mammalia Psma1 17 35 34
  • 92.02 (n)
rat
(Rattus norvegicus)
Mammalia Psma1 34
  • 90.37 (n)
chicken
(Gallus gallus)
Aves PSMA1 35 34
  • 83.2 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 92 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5957 34
zebrafish
(Danio rerio)
Actinopterygii psma1 35 34
  • 74.46 (n)
OneToMany
wufc17c09 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8498 34
fruit fly
(Drosophila melanogaster)
Insecta Prosalpha6T 35 36 34
  • 54.35 (n)
ManyToMany
Pros35 35 36
  • 51 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea pas-6 35 34
  • 55.34 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRE5 35 34
  • 56.32 (n)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A10153g 34
  • 56.18 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL336W 34
  • 53.02 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PAF2 34
  • 54.5 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6955 34
rice
(Oryza sativa)
Liliopsida Os02g0133800 34
  • 54.38 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.2240 34
wheat
(Triticum aestivum)
Liliopsida Ta.18932 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5765 35
  • 66 (a)
OneToMany
Cin.4798 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC6G10.04c 34
  • 57.14 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06712 34
  • 51.52 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4798 34
Species where no ortholog for PSMA1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PSMA1 Gene

ENSEMBL:
Gene Tree for PSMA1 (if available)
TreeFam:
Gene Tree for PSMA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PSMA1: view image

Paralogs for PSMA1 Gene

(7) SIMAP similar genes for PSMA1 Gene using alignment to 4 proteins:

  • PSA1_HUMAN
  • B4DEV8_HUMAN
  • F5GX11_HUMAN
  • F5H112_HUMAN

Pseudogenes.org Pseudogenes for PSMA1 Gene

genes like me logo Genes that share paralogs with PSMA1: view

Variants for PSMA1 Gene

Sequence variations from dbSNP and Humsavar for PSMA1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000033185 -- 14,554,665(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000034283 -- 14,629,971(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000048182 -- 14,582,398(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000074110 -- 14,625,990(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000085007 -- 14,554,932(-) C/G/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PSMA1 Gene

Variant ID Type Subtype PubMed ID
esv3305305 CNV mobile element insertion 20981092
esv3324169 CNV insertion 20981092
esv3578250 CNV gain 25503493
esv3625423 CNV loss 21293372
esv3625424 CNV loss 21293372
nsv1048243 CNV gain 25217958
nsv517985 CNV loss 19592680
nsv518508 CNV loss 19592680
nsv7685 CNV insertion 18451855
nsv951312 CNV deletion 24416366

Variation tolerance for PSMA1 Gene

Residual Variation Intolerance Score: 36.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.79; 16.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PSMA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSMA1
Human Gene Mutation Database (HGMD)
PSMA1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMA1 Gene

Disorders for PSMA1 Gene

Additional Disease Information for PSMA1

No disorders were found for PSMA1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PSMA1 Gene

Publications for PSMA1 Gene

  1. Two mRNAs exist for the Hs PROS-30 gene encoding a component of human prosomes. (PMID: 1398136) Silva Pereira I … Scherrer K (Gene 1992) 2 3 4 58
  2. Molecular cloning and sequence analysis of cDNAs for five major subunits of human proteasomes (multi-catalytic proteinase complexes). (PMID: 2025653) Tamura T … Ichihara A (Biochimica et biophysica acta 1991) 2 3 4 58
  3. ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. (PMID: 29804830) Turakhiya A … Buchberger A (Molecular cell 2018) 3 4 58
  4. An atomic structure of the human 26S proteasome. (PMID: 27428775) Huang X … Shi Y (Nature structural & molecular biology 2016) 3 4 58
  5. Crystal structure of the human 20S proteasome in complex with carfilzomib. (PMID: 25599644) Harshbarger W … Sacchettini J (Structure (London, England : 1993) 2015) 3 4 58

Products for PSMA1 Gene