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    PSMD14 proteasome 26S subunit, non-ATPase 14 [ Homo sapiens (human) ]

    Gene ID: 10213, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PSMD14provided by HGNC
    Official Full Name
    proteasome 26S subunit, non-ATPase 14provided by HGNC
    Primary source
    HGNC:HGNC:16889
    See related
    Ensembl:ENSG00000115233 MIM:607173; AllianceGenome:HGNC:16889
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PAD1; POH1; RPN11
    Summary
    This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012]
    Expression
    Ubiquitous expression in brain (RPKM 24.9), testis (RPKM 22.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PSMD14 in Genome Data Viewer
    Location:
    2q24.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (161308425..161411717)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (161766719..161870044)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (162164936..162268228)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene TANK antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16703 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16704 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:162016649-162017412 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16707 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54734 Neighboring gene TRAF family member associated NFKB activator Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54744 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54751 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12054 Neighboring gene VISTA enhancer hs416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12056 Neighboring gene PSMD14 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16709 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:162101046-162101546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12057 Neighboring gene long intergenic non-protein coding RNA 1806 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:162134920-162135556 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr2:162135557-162136192 Neighboring gene Sharpr-MPRA regulatory region 15701 Neighboring gene Sharpr-MPRA regulatory region 9806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16712 Neighboring gene MXRA7 pseudogene 1 Neighboring gene VISTA enhancer hs2337 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:162254028-162254187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16713 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12058 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12059 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:162272934-162273556 Neighboring gene NANOG hESC enhancer GRCh37_chr2:162279216-162279737 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12060 Neighboring gene RNA, 5S ribosomal pseudogene 108 Neighboring gene T-box brain transcription factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16714 Neighboring gene AT-hook containing transcription factor 1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Targeting POH1 inhibits prostate cancer cell growth and enhances the suppressive efficacy of androgen deprivation and docetaxel. Yu W, et al. Prostate, 2019 Aug. PMID 31212367
    2. Relationship between expression of Pad1 homologue and multidrug resistance of idiopathic nephrotic syndrome. Ma Z, et al. Pediatr Int, 2009 Oct. PMID 19419512
    3. Knockdown of human deubiquitinase PSMD14 induces cell cycle arrest and senescence. Byrne A, et al. Exp Cell Res, 2010 Jan 15. PMID 19732767
    4. RPN11 deubiquitinase promotes proliferation and migration of breast cancer cells. Luo G, et al. Mol Med Rep, 2017 Jul. PMID 28535005
    5. The Proteasomal Deubiquitinating Enzyme PSMD14 Regulates Macroautophagy by Controlling Golgi-to-ER Retrograde Transport. Bustamante HA, et al. Cells, 2020 Mar 23. PMID 32210007, Free PMC Article

    See all (219) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PSMD14 stabilizes estrogen signaling and facilitates breast cancer progression via deubiquitinating ERalpha.
      Title: PSMD14 stabilizes estrogen signaling and facilitates breast cancer progression via deubiquitinating ERα.
    2. POH1 induces Smad3 deubiquitination and promotes lung cancer metastasis.
      Title: POH1 induces Smad3 deubiquitination and promotes lung cancer metastasis.
    3. Regulation of Drp1 and enhancement of mitochondrial fission by the deubiquitinating enzyme PSMD14 facilitates the proliferation of bladder cancer cells.
      Title: Regulation of Drp1 and enhancement of mitochondrial fission by the deubiquitinating enzyme PSMD14 facilitates the proliferation of bladder cancer cells.
    4. POH1 facilitates pancreatic carcinogenesis through MYC-driven acinar-to-ductal metaplasia and is a potential therapeutic target.
      Title: POH1 facilitates pancreatic carcinogenesis through MYC-driven acinar-to-ductal metaplasia and is a potential therapeutic target.
    5. The prognostic role of PSMD14 in head and neck squamous cell carcinoma.
      Title: The prognostic role of PSMD14 in head and neck squamous cell carcinoma.
    6. Depletion of PSMD14 suppresses bladder cancer proliferation by regulating GPX4.
      Title: Depletion of PSMD14 suppresses bladder cancer proliferation by regulating GPX4.
    7. Deubiquitylase PSMD14 inhibits autophagy to promote ovarian cancer progression via stabilization of LRPPRC.
      Title: Deubiquitylase PSMD14 inhibits autophagy to promote ovarian cancer progression via stabilization of LRPPRC.
    8. Novel insights into the non-canonical roles of PSMD14/POH1/Rpn11 in proteostasis and in the modulation of cancer progression.
      Title: Novel insights into the non-canonical roles of PSMD14/POH1/Rpn11 in proteostasis and in the modulation of cancer progression.
    9. Identification of PSMD14 as a potential novel prognosis biomarker and therapeutic target for osteosarcoma.
      Title: Identification of PSMD14 as a potential novel prognosis biomarker and therapeutic target for osteosarcoma.
    10. PSMD14 Targeting Triggers Paraptosis in Breast Cancer Cells by Inducing Proteasome Inhibition and Ca(2+) Imbalance.
      Title: PSMD14 Targeting Triggers Paraptosis in Breast Cancer Cells by Inducing Proteasome Inhibition and Ca(2+) Imbalance.
    Submit: New GeneRIF Correction See all GeneRIFs (31)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables K63-linked deubiquitinase activity TAS
    Traceable Author Statement
    more info
    		  
    enables endopeptidase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal-dependent deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal-dependent deubiquitinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables metal-dependent deubiquitinase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables metallopeptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables proteasome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables proteasome binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in double-strand break repair via nonhomologous end joining IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein K63-linked deubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein K63-linked deubiquitination TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein deubiquitination TAS
    Traceable Author Statement
    more info
    		  
    involved_in regulation of proteasomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of cytosolic proteasome complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of proteasome accessory complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of proteasome complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of proteasome complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of proteasome complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of proteasome regulatory particle, lid subcomplex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of proteasome regulatory particle, lid subcomplex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    26S proteasome non-ATPase regulatory subunit 14
    Names
    26S proteasome regulatory subunit rpn11
    26S proteasome-associated PAD1 homolog 1
    proteasome (prosome, macropain) 26S subunit, non-ATPase, 14
    testis tissue sperm-binding protein Li 69n
    NP_005796.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_005805.6 → NP_005796.1  26S proteasome non-ATPase regulatory subunit 14

      See identical proteins and their annotated locations for NP_005796.1

      Status: REVIEWED

      Source sequence(s)
      BC066336, BM978668, DA133201, U86782
      Consensus CDS
      CCDS46437.1
      UniProtKB/Swiss-Prot
      B3KNW2, O00176, O00487
      UniProtKB/TrEMBL
      A0A140VKF2
      Related
      ENSP00000386541.3, ENST00000409682.8
      Conserved Domains (1) summary
      cd08069
      Location:21 → 286
      MPN_RPN11_CSN5; Mov34/MPN/PAD-1 family: proteasomal regulatory protein Rpn11 and signalosome complex subunit CSN5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      161308425..161411717
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      161766719..161870044
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00487.1 GenPept UniProtKB/Swiss-Prot:O00487

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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