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Gene Gene information from NCBI Gene database.
Entrez ID 23198
Gene name Proteasome activator subunit 4
Gene symbol PSME4
Synonyms (NCBI Gene)
Blm10PA200hBlm10
Chromosome 2
Chromosome location 2p16.2
miRNA miRNA information provided by mirtarbase database.
319 Show/Hide all (319)
miRTarBase ID miRNA Experiments Reference
MIRT019934 hsa-miR-375 Microarray 20215506
MIRT020902 hsa-miR-155-5p Proteomics 18668040
MIRT027763 hsa-miR-98-5p Microarray 19088304
MIRT028604 hsa-miR-30a-5p Proteomics 18668040
MIRT031835 hsa-miR-16-5p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32 Show/Hide all (32)
GO ID Ontology Definition Evidence Reference
GO:0000502 Component Proteasome complex IEA
GO:0005515 Function Protein binding IPI 18845680, 25416956, 35271311
GO:0005634 Component Nucleus HDA 21630459
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607705 20635 ENSG00000068878
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14997
Protein name Proteasome activator complex subunit 4 (Proteasome activator PA200) (Protein BLM10 homolog) (Blm10) (hBlm10)
Protein function Associated component of the proteasome that specifically recognizes acetylated histones and promotes ATP- and ubiquitin-independent degradation of core histones during spermatogenesis and DNA damage response. Recognizes and binds acetylated hist
PDB 6KWX , 6KWY , 6REY , 7NAQ , 8CVS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11919 DUF3437 1756 → 1843 Domain of unknown function (DUF3437) Family
PF16507 BLM10_mid 330 → 828 Proteasome-substrate-size regulator, mid region Family
Sequence
MEPAERAGVGEPPEPGGRPEPGPRGFVPQKEIVYNKLLPYAERLDAESDLQLAQIKCNLG
RAVQLQELWPGGLFWTRKLSTYIRLYGRKFSKEDHVLFIKLLYELVSIPKLEISMMQGFA
RLLINLLKKKELLSRADLELPWRPLYDMVERILYSKTEHLGLNWFPNSVENILKTLVKSC
RPYFPADATAEMLEEWRPLMCPFDVTMQKAITYFEIFLPTSLPPELHHKGFKLWFDELIG
LWVSVQNLPQWEGQLVNLFARLATDNIGYIDWDPYVPKIFTRILRSLNLPVGSSQVLVPR
FLTNAYDIGHAVIWITAMMGGPSKLVQKHLAGLFNSITSFYHPSNNGRWLNKLMKLLQRL
PNSVVRRLHRERYKKPSWLTPVPDSHKLTDQDVTDFVQCIIQPVLLAMFSKTGSLEAAQA
LQNLALMRPELVIPPVLERTYPALETLTEPHQLTATLSCVIGVARSLVSGGRWFPEGPTH
MLPLLMRALPGVDPNDFSKCMITFQFIATFSTLVPLVDCSSVLQERNDLTEVERELCSAT
AEFEDFVLQFMDRCFGLIESSTLEQTREETETEKMTHLESLVELGLSSTFSTILTQCSKE
IFMVALQKVFNFSTSHIFETRVAGRMVADMCRAAVKCCPEESLKLFVPHCCSVITQLTMN
DDVLNDEELDKELLWNLQLLSEITRVDGRKLLLYREQLVKILQRTLHLTCKQGYTLSCNL
LHHLLRSTTLIYPTEYCSVPGGFDKPPSEYFPIKDWGKPGDLWNLGIQWHVPSSEEVSFA
FYLLDSFLQPELVKLQHCGDGKLEMSRDDILQSLTIVHNCLIGSGNLL
PPLKGEPVTNLV
PSMVSLEETKLYTGLEYDLSRENHREVIATVIRKLLNHILDNSEDDTKSLFLIIKIIGDL
LQFQGSHKHEFDSRWKSFNLVKKSMENRLHGKKQHIRALLIDRVMLQHELRTLTVEGCEY
KKIHQDMIRDLLRLSTSSYSQVRNKAQQTFFAALGAYNFCCRDIIPLVLEFLRPDRQGVT
QQQFKGALYCLLGNHSGVCLANLHDWDCIVQTWPAIVSSGLSQAMSLEKPSIVRLFDDLA
EKIHRQYETIGLDFTIPKSCVEIAELLQQSKNPSINQILLSPEKIKEGIKRQQEKNADAL
RNYENLVDTLLDGVEQRNLPWKFEHIGIGLLSLLLRDDRVLPLRAIRFFVENLNHDAIVV
RKMAISAVAGILKQLKRTHKKLTINPCEISGCPKPTQIIAGDRPDNHWLHYDSKTIPRTK
KEWESSCFVEKTHWGYYTWPKNMVVYAGVEEQPKLGRSREDMTEAEQIIFDHFSDPKFVE
QLITFLSLEDRKGKDKFNPRRFCLFKGIFRNFDDAFLPVLKPHLEHLVADSHESTQRCVA
EIIAGLIRGSKHWTFEKVEKLWELLCPLLRTALSNITVETYNDWGACIATSCESRDPRKL
HWLFELLLESPLSGEGGSFVDACRLYVLQGGLAQQEWRVPELLHRLLKYLEPKLTQVYKN
VRERIGSVLTYIFMIDVSLPNTTPTISPHVPEFTARILEKLKPLMDVDEEIQNHVMEENG
IGEEDERTQGIKLLKTILKWLMASAGRSFSTAVTEQLQLLPLFFKIAPVENDNSYDELKR
DAKLCLSLMSQGLLYPHQVPLVLQVLKQTARSSSWHARYTVLTYLQTMVFYNLFIFLNNE
DAVKDIRWLVISLLEDEQLEVREMAATTLSGLLQCNFLTMDSPMQIHFEQLCKTKLPKKR
KRDPGSVGDTIPSAELVKRHAGVLGLGACVLSSPYDVPTWMPQLLMNLSAHLNDPQPIEM
TVKKTLSNFRRTHHDNWQEHKQQFTDDQLLVLTDLLVSPCYYA
Sequence length 1843
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Proteasome Activation of NF-kappaB in B cells
  Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
  Cross-presentation of soluble exogenous antigens (endosomes)
  SCF-beta-TrCP mediated degradation of Emi1
  APC/C:Cdc20 mediated degradation of Securin
  APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
  Cdc20:Phospho-APC/C mediated degradation of Cyclin A
  Vpu mediated degradation of CD4
  Vif-mediated degradation of APOBEC3G
  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 PTEN stability and activity
  Neddylation
  Interleukin-1 signaling
  Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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)
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 (9)
Phenotype Name Clinical Significance Source Reference Evidence Score
Acute myeloid leukemia Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE — GWAS catalog 39998322
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME — GWAS catalog 39349817
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (6)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cystitis Interstitial Interstitial cystitis Pubtator 39399486 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Idiopathic Pulmonary Fibrosis Pulmonary Fibrosis BEFREE 31645612
★★★★★
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Mitochondrial disease Pubtator 33562813 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Multiple myeloma Pubtator 35344764 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 22550082
★★★★★
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma Pubtator 32368861 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only