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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PSMA5 Gene

protein-coding   GIFtS: 65
GCID: GC01M109944

proteasome (prosome, macropain) subunit, alpha type, 5

 Explore 11 diseases affiliated with
PSMA5 via our new
 Human Malady Compendium 
Biological research products
for PSMA5
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Proteasome (Prosome, Macropain) Subunit, Alpha Type, 51 2     PSC52 5
ZETA1 2     Macropain Subunit Zeta2
Macropain Zeta Chain2 3     Proteasome Alpha 5 Subunit2
Multicatalytic Endopeptidase Complex Zeta Chain2 3     Proteasome Component 52
Proteasome Zeta Chain2 3     Proteasome Subunit Alpha Type-52
EC 3.4.25.13 8     Proteasome Subunit Zeta2

External Ids:    HGNC: 95341   Entrez Gene: 56862   Ensembl: ENSG000001431067   OMIM: 1768445   UniProtKB: P280663   

Export aliases for PSMA5 gene to outside databases

Previous GC identifers: GC01M110423 GC01M108873 GC01M109046 GC01M109243 GC01M109656 GC01M107837


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PSMA5:
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. Multiple alternatively spliced transcript variants encoding
two distinct isoforms have been found for this gene. (provided by RefSeq, Dec 2010)

UniProtKB/Swiss-Prot: PSA5_HUMAN, P28066
Function: The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave
peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The
proteasome has an ATP-dependent proteolytic activity

Gene Wiki entry for PSMA5


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PSMA5 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   POU2F2   POU2F2C   Ik-2   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPSMA5 promoter sequence
   Search SABiosciences Chromatin IP Primers for PSMA5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PSMA5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p13   Ensembl cytogenetic band:  1p13.3   HGNC cytogenetic band: 1p13

PSMA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PSMA5 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M109944:  view genomic region     (about GC identifiers)

Start:
109,941,653 bp from pter      End:
109,969,062 bp from pter
Size:
27,410 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PSA5_HUMAN, P28066 (See protein sequence)
Recommended Name: Proteasome subunit alpha type-5  
Size: 241 amino acids; 26411 Da
Subunit: The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core
is composed of 28 subunits that are arranged in four stacked rings, resulting in a barrel-shaped structure. The two
end rings are each formed by seven alpha subunits, and the two central rings are each formed by seven beta subunits.
The catalytic chamber with the active sites is on the inside of the barrel. PSMA5 interacts directly with the
PSMG1-PSMG2 heterodimer which promotes 20S proteasome assembly
Subcellular location: Cytoplasm. Nucleus
Secondary accessions: B2R8F6 B4E2V4 Q3T1C1 Q6IBF7
Alternative splicing: 2 isoforms:  P28066-1   P28066-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PSMA5: NX_P28066

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P28066

  • 4/12 DME Specific Peptides for PSMA5 (P28066) (see all 12)
     EKGPQLF  LFQVEYA  LKQVMEE  RPFGVAL 

    PSMA5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001186701.1  NP_001186702.1  NP_001186703.1  NP_002781.2  

    ENSEMBL proteins: 
     ENSP00000271308   ENSP00000440618  
    Reactome Protein details: P28066
    Human Recombinant Protein Products: 
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    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000502proteasome complex TAS8811196
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--


    PSMA5 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PSMA5 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001353 Proteasome_sua/b
     IPR000426 Proteasome_asu_N
     IPR023332 Proteasome_suA-type

    Graphical View of Domain Structure for InterPro Entry P28066

    ProtoNet protein and cluster: P28066

    1 Blocks protein family: IPB000426 Proteasome subunit

    UniProtKB/Swiss-Prot: PSA5_HUMAN, P28066
    Similarity: Belongs to the peptidase T1A family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: PSA5_HUMAN, P28066
    Function: The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave
    peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The
    proteasome has an ATP-dependent proteolytic activity
    Catalytic activity: Cleavage of peptide bonds with very broad specificity
    Induction: Up-regulated in colon cancer cell lines. Up-regulated in fetal Down syndrome (DS) brain (at protein level).
    May be the target of the transcriptional activator NFE2L2

         Genatlas biochemistry entry for PSMA5:
    multicatalytic proteinase complex (20S) proteasome (prosome,macropain) component alpha 5

    Enzyme Number (IUBMB): EC 3.4.25.11 2

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004298threonine-type endopeptidase activity IEA--
    GO:0005515protein binding IPI16251969


    PSMA5 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for PSMA5:
     G0/1 arrest  Increased G1 DNA content  Synthetic lethal with Ras 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/27 super-pathways (see all 27About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ubiquitinated Orc1 is degraded by the proteasome
    8/78 pathways (see all 78)
    Ubiquitinated Orc1 is degraded by the proteasome1.00
    Degradation of ubiquitinated p27/p21 by the 26S proteasome0.75
    Proteasomal cleavage of substrate0.98
    SCF(Skp2)-mediated degradation of p27/p210.75
    Proteasome mediated degradation of PAK-2p340.98
    APC/C:Cdh1-mediated degradation of Skp20.74
    Proteasomal cleavage of substrate0.98
    APC/C:Cdc20 mediated degradation of Securin0.74
    2M Phase
    M Phase1.00
    Mitotic Anaphase0.85
    Mitotic M-M/G1 phases0.88
    Separation of Sister Chromatids0.80
    Mitotic Metaphase and Anaphase0.85
    3Chks in Checkpoint Regulation
    Chks in Checkpoint Regulation1.00
    p53 Signaling0.32
    G2-M Phase Transition0.59
    DNA Repair Mechanisms0.32
    Estrogen-mediated S-Phase Entry0.55
    4HIV Infection
    HIV Infection1.00
    Transcription_Ligand-Dependent Transcription of Retinoid-Target genes0.28
    Host Interactions of HIV factors0.64
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes0.28
    5Regulation of degradation of wt-CFTR
    Regulation of degradation of wt-CFTR1.00
    Regulation of degradation of deltaF508 CFTR in CF0.59

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for PSMA5
        Immune response Antigen presentation by MHC class I
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes

    5/17 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PSMA5 (see all 17)
        CDK5 Pathway
    Estrogen-mediated S-Phase Entry
    G2-M Phase Transition
    DNA Repair Mechanisms
    GSK3 Signaling

    1 Cell Signaling Technology (CST) Pathway for PSMA5
        Protein Stability

    4 GeneGo (Thomson Reuters) Pathways for PSMA5
        Transcription Ligand-Dependent Transcription of Retinoid-Target genes
    Immune response Antigen presentation by MHC class I
    Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of wt-CFTR

    1 BioSystems Pathway for PSMA5 
        Proteasome Degradation

    5/98        Reactome Pathways for PSMA5 (see all 98)
        Ubiquitinated geminin is degraded by the proteasome
    Proteolytic degradation of ubiquitinated-Cdc25A
    Orc1 removal from chromatin
    CDK-mediated phosphorylation and removal of Cdc6
    ER-Phagosome pathway


    1         Kegg Pathway  (Kegg details for PSMA5):
        Proteasome


    PSMA5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PSMA5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/201 Interacting proteins for PSMA5 (P280662, 3 ENSP000002713084) via UniProtKB, MINT, STRING, and/or I2D (see all 201)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSMA7O148182, 3, ENSP000003599104MINT-4050722 MINT-51370 MINT-6176676 MINT-6176052 MINT-51350 MINT-6176080 I2D: score=15 STRING: ENSP00000359910
    PSMA2P257872, 3, ENSP000002233214MINT-4050722 MINT-6176676 MINT-6176052 MINT-6176080 I2D: score=9 STRING: ENSP00000223321
    PSMA1P257862, 3MINT-4050722 MINT-6176676 MINT-6176052 MINT-6176080 I2D: score=9 
    PSMB2P497212, 3, ENSP000003623344MINT-4050722 MINT-6176676 MINT-6176080 I2D: score=6 STRING: ENSP00000362334
    PSMB4P280702, 3, ENSP000002905414MINT-4050722 MINT-6176676 MINT-6176080 I2D: score=4 STRING: ENSP00000290541
    About this table

    Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000075cell cycle checkpoint TAS--
    GO:0000082G1/S transition of mitotic cell cycle TAS--
    GO:0000084S phase of mitotic cell cycle TAS--
    GO:0000209protein polyubiquitination TAS--
    GO:0000216M/G1 transition of mitotic cell cycle TAS--


    PSMA5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for PSMA5:
    Small Molecule - inhibitor
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    2 DrugBank Compounds for PSMA5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    (3AR,6R,6AS)-6-((S)-((S)-CYCLOHEX-2-ENYL)(HYDROXY)METHYL)-6A-METHYL-4-OXO-HEXAHYDRO-2H-FURO[3,2-C]PYRROLE-6-CARBALDEHYDE-- --target--10592235
    N-[(1R)-1-(DIHYDROXYBORYL)-3-METHYLBUTYL]-N-(PYRAZIN-2-YLCARBONYL)-L-PHENYLALANINAMIDE-- --target--10592235

    Search CenterWatch for drugs/clinical trials and news about PSMA5 / PSA5 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PSMA5 gene (4 alternative transcripts): 
    NM_001199772.1  NM_001199773.1  NM_001199774.1  NM_002790.3  

    Unigene Cluster for PSMA5:

    Proteasome (prosome, macropain) subunit, alpha type, 5
    Hs.485246  [show with all ESTs]
    Unigene Representative Sequence: NM_002790
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000271308(uc001dxn.3 uc010ovj.2 uc021ord.1 uc021ore.1)
    ENST00000490870 ENST00000477897 ENST00000484563 ENST00000491287 ENST00000538610


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    Additional cDNA sequence: 

    AK124307.1 AK225990.1 AK304448.1 AK313351.1 BC102018.1 BC102019.1 BC102020.1 BC103751.1 
    BT019717.1 CR456847.1 X61970.1 

    23 DOTS entries:

    DT.100826873  DT.454004  DT.99962474  DT.112037  DT.95141183  DT.100826866  DT.112038  DT.100826870 
    DT.100826871  DT.100826857  DT.100826861  DT.100826860  DT.85104300  DT.91760588  DT.95141135  DT.100038406 
    DT.91760587  DT.121338992  DT.91760589  DT.95141139  DT.97862397  DT.75195508  DT.95327778 

    24/585 AceView cDNA sequences (see all 585):

    CR603065 BG743267 CB528713 W47013 AA102701 BQ214999 BM841927 BE221027 
    BG686893 CR600422 BQ771550 BU165690 AA708945 AA053496 CB159417 CA313645 
    CR601200 AA132181 AV654126 BM831949 CB161329 BU632507 AW576015 BM824838 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PSMA5    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
    SP1:                    -                       -     -                                 
    SP2:              -     -                                                               
    SP3:                    -                                                               
    SP4:                                                                                    


    ECgene alternative splicing isoforms for PSMA5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PSMA5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCACAAAGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See PSMA5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PSMA5

    SOURCE GeneReport for Unigene cluster: Hs.485246

    UniProtKB/Swiss-Prot: PSA5_HUMAN, P28066
    Tissue specificity: Expressed in fetal brain (at protein level)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PSMA5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PSMA5 gene from 9/42 species (see all 42)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves PSMA51 proteasome (prosome, macropain) subunit, alpha type, 5 less 82.71(n)
    97.51(a)
      426937  NM_001031407.1  NP_001026578.1 
    lizard
    (Anolis carolinensis)
    Reptilia PSMA56
    --
    90(a)
    1 ↔ 1
    4(105472482-105488934)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.61942 Xenopus laevis transcribed sequence with strong similarity to protein pirS17521 (H.sapiens) S17521 multicatalytic endopeptidase complex (EC 3.4.99.46) zeta chain - human less 80.76(n)    CF548405.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj61e022 Danio rerio clone RK071A1A07 proteasome subunit, alpha type, 5 (PSMA5) mRNA, complete cds less 80.68(n)    AY398400.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ProsMA53
    Prosalpha51
    ATP-dependent proteolysis proteasome
    endopeptidase less3
    Proteasome alpha5 subunit1
    70(a)3
    64.73(n)1
    70.95(a)1
      369511  NM_057854.41  NP_477202.21 
    worm
    (Caenorhabditis elegans)
    Secernentea pas-51 Protein PAS-5 60.42(n)
    63.33(a)
      172942  NM_060364.5  NP_492765.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PUP2(YGR253C)4
    PUP21
    Alpha 5 subunit of the 20S proteasome involved in ubiquitin-dependent catabolism; human homolog is subunit zeta less4
    Pup2p1
    58.64(n)1
    61.41(a)1
      7(999140-998358)4
    8531681, 4  NP_011769.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PAE21 proteasome subunit alpha type-5-B 68.38(n)
    70.09(a)
      820649  NM_112287.3  NP_188046.1 
    rice
    (Oryza sativa)
    Liliopsida Os.37052 Oryza sativa (japonica cultivar-group) OsPAE1 mRNA for alpha 5 subunit of 20S proteasome, complete cds less 71.19(n)    AK059521.1 


    ENSEMBL Gene Tree for PSMA5 (if available)
    TreeFam Gene Tree for PSMA5 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PSMA5 gene
    7 SIMAP similar genes for PSMA5 using alignment to 1 protein entry:     PSA5_HUMAN:
    PSMA7    PSMA2    PSMA6    PSMA3    PSMA4    PSMA8
    PSMA1

    PSMA5 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for PSMA5
    PGOHUM00000243702 PGOHUM00000241338


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/463 NCBI SNPs in PSMA5 are shown (see all 463    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs726465521,2
    C,--107834672(-) ACATCA/CCATAC 1 -- us2k11Minor allele frequency- C:0.00NS 752
    rs726465511,2
    C,F,--107834751(-) TGCAGC/TTTCTG 1 -- us2k12Minor allele frequency- T:0.00NS NA 872
    rs726465491,2
    F--107835114(-) ACTATC/TCTGCT 1 -- us2k11Minor allele frequency- T:0.00NS 756
    rs726465481,2
    C,--107835205(-) ATGGAA/GAGGAA 1 -- us2k13Minor allele frequency- G:0.04NS WA 876
    rs726465471,2
    C,F,--107835231(-) TTTTTT/AAAATT 1 -- us2k11Minor allele frequency- A:0.02NS 756
    rs726465461,2
    C,--107835659(-) AAAAAT/CGAAAT 1 -- us2k12Minor allele frequency- C:0.00NS CSA 744
    rs1823489901,2
    --109941471(+) TAATGA/GATAAA 5 -- ds5001 us2k10--------
    rs1380287361,2
    --109941496(+) CTGTTC/GCCTTT 5 -- us2k1 ds50010--------
    rs1864007771,2
    --109941665(+) CAAAGC/TAAGTA 5 -- us2k1 ut310--------
    rs1435062031,2
    --109941780(+) TTCCAC/GTCACA 5 -- ut31 us2k10--------

    HapMap Linkage Disequilibrium report for PSMA5 (109941653 - 109969062 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PSMA5: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PSMA5
    DNA2.0 Custom Variant and Variant Library Synthesis for PSMA5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PSMA5 for disorders           About GeneDecksing

    OMIM gene information: 176844    OMIM disorders: --

    11 diseases for PSMA5:    About MalaCards
    lactic acidosis    wolfram syndrome    fanconi's anemia    down syndrome
    kidney disease    anemia    colon cancer    immunodeficiency
    malaria    huntington's disease    parkinson's disease


    Export disorders for PSMA5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PSMA5 gene, integrated from 9 sources (see all 99):
    (articles sorted by number of sources associating them with PSMA5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The primary structures of four subunits of the human, high-molecular- weight proteinase, macropain (proteasome), are distinct but homologous. (PubMed id 1888762)1, 2, 3 DeMartino G.N.... Slaughter C.A. (1991)
    2. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes. (PubMed id 16251969)1, 2 Hirano Y.... Murata S. (2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Selective upregulation of the ubiquitin-proteasome proteolytic pathway proteins, proteasome zeta chain and isopeptidase T in fetal Down syndrome. (PubMed id 11771738)1, 2 Engidawork E....Lubec G. (2001)
    8. Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes. (PubMed id 1286667)1, 2 Rasmussen H.H....Vandekerckhove J. (1992)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5686 HGNC: 9534 AceView: PSMA5 Ensembl:ENSG00000143106 euGenes: HUgn5686
    ECgene: PSMA5 Kegg: 5686 H-InvDB: PSMA5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PSMA5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PSMA5 gene:
    Search GeneIP for patents involving PSMA5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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