Aliases for PSMA8 Gene

Aliases for PSMA8 Gene

  • Proteasome 20S Subunit Alpha 8 2 3 5
  • PSMA7L 2 3 4
  • Proteasome (Prosome, Macropain) Subunit, Alpha Type, 8 2 3
  • Proteasome Subunit Alpha-Type 8 3 4
  • Proteasome Subunit Alpha 8 2 3
  • Proteasome Alpha 4 Subunit 3 4
  • Alpha4s 3 4
  • Proteasome Subunit Alpha Type 7-Like Protein Variant 1 3
  • Proteasome Subunit Alpha-Type 7-Like 4
  • EC 3.4.25.1 51
  • MGC26605 2
  • PSMA8 5

External Ids for PSMA8 Gene

Previous GeneCards Identifiers for PSMA8 Gene

  • GC18P021968
  • GC18P023713
  • GC18P020571

Summaries for PSMA8 Gene

GeneCards Summary for PSMA8 Gene

PSMA8 (Proteasome 20S Subunit Alpha 8) is a Protein Coding gene. Diseases associated with PSMA8 include Cystic Fibrosis and Pelvic Varices. Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include endopeptidase activity and threonine-type endopeptidase activity. An important paralog of this gene is PSMA7.

UniProtKB/Swiss-Prot Summary for PSMA8 Gene

  • Component of the spermatoproteasome, a proteasome specifically found in testis that promotes acetylation-dependent degradation of histones, thereby participating actively to the exchange of histones during spermatogenesis. The proteasome is a protein complexe that degrades unneeded or damaged proteins by proteolysis, a chemical reaction that breaks peptide bonds. Required for 20S core proteasome assembly, essential for the degradation of meiotic proteins RAD51 and RPA1 at late prophase I and the progression of meiosis I during spermatogenesis. Localizes to the synaptonemal complex, a 'zipper'-like structure that holds homologous chromosome pairs in synapsis during meiotic prophase I.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PSMA8 Gene

Genomics for PSMA8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PSMA8 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
GH18J026133 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 250.7 +0.2 187 1.5 POLR2A YY1 TAF1 ZBTB33 EGR1 GABPB1 HSALNG0120561 PSMA8 piR-57460-303 SS18 TAF4B
GH18J026167 Enhancer 0.7 Ensembl 0.3 +33.8 33837 0.3 NR2C1 TRIM22 BHLHE40 ELF1 IKZF1 BMI1 NR2F1 TCF12 ZNF217 ARID3A HSALNG0120562 lnc-SS18-8 piR-57460-303 PSMA8 TAF4B
GH18J026168 Enhancer 0.5 Ensembl 0.3 +34.6 34649 1 TRIM22 NR2F1 ATF7 IKZF2 NBN DPF2 RELB ZBTB40 ARNT HSALNG0120562 DHFRP1 lnc-SS18-8 PSMA8 TAF4B
GH18J026190 Enhancer 0.7 ENCODE 0.2 +57.4 57353 1.7 BHLHE40 ASH2L MCM5 ZNF24 IKZF1 TCF7 NR2F1 HDGF ATF2 TCF12 SS18 piR-57460-304 DHFRP1 TAF4B PSMA8
GH18J026214 Enhancer 0.9 FANTOM5 ENCODE 0.2 +81.4 81433 1.8 ZNF316 SPI1 ELF1 SCRT1 MAFG TCF7 MAFK ARID3A IKZF1 ATF7 SS18 piR-43105-291 TAF4B PSMA8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PSMA8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSMA8

Top Transcription factor binding sites by QIAGEN in the PSMA8 gene promoter:
  • aMEF-2
  • Cart-1
  • Gfi-1
  • MEF-2A
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for PSMA8 Gene

Latest Assembly
chr18:26,133,852-26,193,355
(GRCh38/hg38)
Size:
59,504 bases
Orientation:
Plus strand

Previous Assembly
chr18:23,713,833-23,773,319
(GRCh37/hg19 by Entrez Gene)
Size:
59,487 bases
Orientation:
Plus strand

chr18:23,713,816-23,773,319
(GRCh37/hg19 by Ensembl)
Size:
59,504 bases
Orientation:
Plus strand

Genomic View for PSMA8 Gene

Genes around PSMA8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSMA8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSMA8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSMA8 Gene

Proteins for PSMA8 Gene

  • Protein details for PSMA8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAA3-PSMA8_HUMAN
    Recommended name:
    Proteasome subunit alpha-type 8
    Protein Accession:
    Q8TAA3
    Secondary Accessions:
    • B0YJ75
    • Q8IVP4
    • Q8TA98
    • Q8TAA2

    Protein attributes for PSMA8 Gene

    Size:
    256 amino acids
    Molecular mass:
    28530 Da
    Quaternary structure:
    • Component of the outer alpha-ring of the 20S proteasome core which is composed of 28 subunits that are arranged in four stacked rings, resulting in a barrel-shaped structure. The catalytic chamber with the active sites is on the inside of the barrel. Interacts with canonical subunits of the spermatoproteasome, including proteasome activators PSME4 (also called PA200) and PSME3 (also called PA28-gamma). Interacts with proteasome-interacting proteins chaperones, ubiquitin ligases and ubiquitin specific proteases. Interacts with meiotic proteins cyclin dependent kinase CDK1 and the ATPase TRIP13 as well as proteins of the synaptonemal complex SIX6OS1 and SYCE3.

    Alternative splice isoforms for PSMA8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSMA8 Gene

Selected DME Specific Peptides for PSMA8 Gene

Q8TAA3:
  • EEAEKKK
  • RTVRKIC
  • VVLGVEK
  • EFLEKNY
  • YDRAITVFSPDG
  • LYQTDPSG
  • RARVECQ
  • IKALLEVVQSGGKNIELA
  • EIEKEKEE
  • LFQVEYA
  • EAVKKGSTA
  • YTQSNGRRPFG
  • GLTADAR
  • LTVEDPVTVEYITR

Post-translational modifications for PSMA8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PSMA8 Gene

Gene Families for PSMA8 Gene

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

Protein Domains for PSMA8 Gene

InterPro:
Blocks:
  • Proteasome subunit, A-type
ProtoNet:

Suggested Antigen Peptide Sequences for PSMA8 Gene

GenScript: Design optimal peptide antigens:
  • Proteasome subunit alpha type (B0YJ74_HUMAN)
  • Proteasome subunit alpha type (F5H3G5_HUMAN)
  • Proteasome subunit alpha type-7-like (PSA7L_HUMAN)
  • PSMA8 protein (Q4G1B8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TAA3

UniProtKB/Swiss-Prot:

PSMA8_HUMAN :
  • Belongs to the peptidase T1A family.
Family:
  • Belongs to the peptidase T1A family.
genes like me logo Genes that share domains with PSMA8: view

Function for PSMA8 Gene

Molecular function for PSMA8 Gene

UniProtKB/Swiss-Prot Function:
Component of the spermatoproteasome, a proteasome specifically found in testis that promotes acetylation-dependent degradation of histones, thereby participating actively to the exchange of histones during spermatogenesis. The proteasome is a protein complexe that degrades unneeded or damaged proteins by proteolysis, a chemical reaction that breaks peptide bonds. Required for 20S core proteasome assembly, essential for the degradation of meiotic proteins RAD51 and RPA1 at late prophase I and the progression of meiosis I during spermatogenesis. Localizes to the synaptonemal complex, a 'zipper'-like structure that holds homologous chromosome pairs in synapsis during meiotic prophase I.

Enzyme Numbers (IUBMB) for PSMA8 Gene

Phenotypes From GWAS Catalog for PSMA8 Gene

Gene Ontology (GO) - Molecular Function for PSMA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IBA 21873635
genes like me logo Genes that share ontologies with PSMA8: view
genes like me logo Genes that share phenotypes with PSMA8: view

Animal Models for research

  • Taconic Biosciences Mouse Models for PSMA8

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMA8

Clone products for research

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PSMA8 Gene

Localization for PSMA8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSMA8 Gene

Nucleus. Note=Localizes to the central region of the synaptonemal complex. {ECO:0000250 UniProtKB:Q9CWH6}.

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 PSMA8 gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PSMA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex IEA --
GO:0005634 nucleus IEA,ISS --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0005839 proteasome core complex IEA,IBA 21873635
genes like me logo Genes that share ontologies with PSMA8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PSMA8 Gene

Pathways & Interactions for PSMA8 Gene

PathCards logo

SuperPathways for PSMA8 Gene

SuperPathway Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
.78
.31
2 RET signaling
3 HIV Life Cycle
.45
4 Pathways of neurodegeneration - multiple diseases
5 Class I MHC mediated antigen processing and presentation
genes like me logo Genes that share pathways with PSMA8: view

Pathways by source for PSMA8 Gene

4 GeneGo (Thomson Reuters) pathways for PSMA8 Gene
  • Immune response Antigen presentation by MHC class I
  • Regulation of degradation of deltaF508 CFTR in CF
  • Regulation of degradation of wt-CFTR
  • Transcription Ligand-Dependent Transcription of Retinoid-Target genes

Gene Ontology (GO) - Biological Process for PSMA8 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:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
genes like me logo Genes that share ontologies with PSMA8: view

No data available for SIGNOR curated interactions for PSMA8 Gene

Drugs & Compounds for PSMA8 Gene

(2) Drugs for PSMA8 Gene - From: 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 926
carfilzomib Approved, Investigational Pharma other, Inhibitor Other, 20S Proteasome Inhibitor 0
genes like me logo Genes that share compounds with PSMA8: view

Transcripts for PSMA8 Gene

mRNA/cDNA for PSMA8 Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMA8

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for PSMA8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8
SP1: -
SP2:

Relevant External Links for PSMA8 Gene

GeneLoc Exon Structure for
PSMA8

Expression for PSMA8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PSMA8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PSMA8 Gene

This gene is overexpressed in Testis (x42.6).

Protein differential expression in normal tissues from HIPED for PSMA8 Gene

This gene is overexpressed in Lung (16.5), Nasal epithelium (14.2), Blymphocyte (10.4), and Tlymphocyte (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PSMA8 Gene



Protein tissue co-expression partners for PSMA8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PSMA8

SOURCE GeneReport for Unigene cluster for PSMA8 Gene:

Hs.464813

Evidence on tissue expression from TISSUES for PSMA8 Gene

  • Eye(3.5)
genes like me logo Genes that share expression patterns with PSMA8: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSMA8 Gene

Orthologs for PSMA8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PSMA8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PSMA8 30 31
  • 99.61 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PSMA8 31
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PSMA8 30 31
  • 92.3 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PSMA8 30 31
  • 91.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Psma8 30
  • 88.79 (n)
Mouse
(Mus musculus)
Mammalia Psma8 30 17 31
  • 88.65 (n)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii psma8 30 31
  • 73.02 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005423 30
  • 61.9 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Pros28.1 30 31
  • 61.62 (n)
ManyToMany
Pros28.1A 31
  • 59 (a)
ManyToMany
Pros28.1B 31
  • 52 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea pas-4 31
  • 57 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B11836g 30
  • 59.39 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRE6 30 31
  • 56.52 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AAR012C 30
  • 52.26 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons PAD1 30
  • 66.22 (n)
Rice
(Oryza sativa)
Liliopsida Os09g0538200 30
  • 60.03 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4812 31
  • 77 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pre6 30
  • 59.62 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU06440 30
  • 59.5 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3518 30
Species where no ortholog for PSMA8 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for PSMA8 Gene

ENSEMBL:
Gene Tree for PSMA8 (if available)
TreeFam:
Gene Tree for PSMA8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PSMA8: view image

Paralogs for PSMA8 Gene

(8) SIMAP similar genes for PSMA8 Gene using alignment to 4 proteins:

  • PSA7L_HUMAN
  • B0YJ74_HUMAN
  • F5GY34_HUMAN
  • Q4G1B8_HUMAN
genes like me logo Genes that share paralogs with PSMA8: view

Variants for PSMA8 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PSMA8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PSMA8 Gene

Variant ID Type Subtype PubMed ID
dgv547n67 CNV loss 20364138
dgv5874n54 CNV loss 21841781
dgv5875n54 CNV loss 21841781
dgv74e180 CNV loss 20482838
esv1011173 CNV loss 20482838
esv1171407 CNV deletion 17803354
esv1206471 CNV deletion 17803354
esv2119871 CNV deletion 18987734
esv2575414 CNV deletion 19546169
esv2656127 CNV loss 23635498
esv2660254 CNV deletion 23128226
esv2665076 CNV deletion 23128226
esv27050 CNV loss 19812545
esv2716880 CNV deletion 23290073
esv2716881 CNV deletion 23290073
esv28116 CNV loss 19812545
esv3136012 CNV deletion 24192839
esv3137123 CNV deletion 24192839
esv3555143 CNV deletion 23714750
esv3555145 CNV deletion 23714750
esv3642017 CNV loss 21293372
esv3642018 CNV loss 21293372
esv3642019 CNV gain 21293372
esv3977 CNV loss 18987735
esv995923 CNV deletion 20482838
esv996517 CNV deletion 20482838
nsv2233 CNV insertion 18451855
nsv2234 CNV deletion 18451855
nsv498877 CNV loss 21111241
nsv576576 CNV gain 21841781
nsv576577 CNV loss 21841781
nsv576578 CNV loss 21841781
nsv576583 CNV loss 21841781
nsv576585 CNV loss 21841781
nsv930497 CNV deletion 23359205
nsv961036 CNV duplication 23825009

Variation tolerance for PSMA8 Gene

Residual Variation Intolerance Score: 49.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.16; 23.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PSMA8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSMA8

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PSMA8 Gene

Disorders for PSMA8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PSMA8 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
cystic fibrosis
  • cf
pelvic varices
- elite association - COSMIC cancer census association via MalaCards
Search PSMA8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PSMA8

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PSMA8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PSMA8 Gene

Publications for PSMA8 Gene

  1. DNA sequence and analysis of human chromosome 18. (PMID: 16177791) Nusbaum C … Lander ES (Nature 2005) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 3
  4. The PSMA8 subunit of the spermatoproteasome is essential for proper meiotic exit and mouse fertility. (PMID: 31437213) Gómez-H L … Pendas AM (PLoS genetics 2019) 3
  5. Nuclear export of ubiquitinated proteins via the UBIN-POST system. (PMID: 29666234) Hirayama S … Nagata K (Proceedings of the National Academy of Sciences of the United States of America 2018) 3

Products for PSMA8 Gene

Sources for PSMA8 Gene