Details for: PSMD12

Gene ID: 5718

Symbol: PSMD12

Ensembl ID: ENSG00000197170

Description: proteasome 26S subunit, non-ATPase 12

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 227.6508
    Cell Significance Index: -35.4100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 169.5294
    Cell Significance Index: -43.0000
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 117.7820
    Cell Significance Index: -48.5200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 98.6690
    Cell Significance Index: -40.0900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 98.3749
    Cell Significance Index: -46.4500
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 69.5283
    Cell Significance Index: -46.6600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 42.3412
    Cell Significance Index: -40.4300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 37.3979
    Cell Significance Index: -46.1100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 14.5995
    Cell Significance Index: -39.1100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 12.3269
    Cell Significance Index: -48.6400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 11.5027
    Cell Significance Index: -35.3300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 9.6318
    Cell Significance Index: -21.0800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.6944
    Cell Significance Index: 101.7200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.6742
    Cell Significance Index: 45.5700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.2908
    Cell Significance Index: 158.7200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.1239
    Cell Significance Index: 58.3900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.1168
    Cell Significance Index: 29.8200
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 1.0465
    Cell Significance Index: 8.7900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.0447
    Cell Significance Index: 188.3300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0349
    Cell Significance Index: 207.6000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.9863
    Cell Significance Index: 195.7300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8609
    Cell Significance Index: 470.1400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.8276
    Cell Significance Index: 365.9100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.8274
    Cell Significance Index: 38.8900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.8109
    Cell Significance Index: 111.3600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7917
    Cell Significance Index: 714.8700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.7204
    Cell Significance Index: 33.5900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.7140
    Cell Significance Index: 32.3700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.6909
    Cell Significance Index: 48.8600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.6555
    Cell Significance Index: 18.7900
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.6512
    Cell Significance Index: 9.8900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.6351
    Cell Significance Index: 82.0500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.6092
    Cell Significance Index: 16.3300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5833
    Cell Significance Index: 209.2100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5656
    Cell Significance Index: 35.6500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.5350
    Cell Significance Index: 27.8700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.5276
    Cell Significance Index: 39.3200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5047
    Cell Significance Index: 14.5400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.4735
    Cell Significance Index: 12.1700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3978
    Cell Significance Index: 51.0000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3888
    Cell Significance Index: 25.0900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3282
    Cell Significance Index: 7.1100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.3234
    Cell Significance Index: 7.8900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.3231
    Cell Significance Index: 38.1000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2442
    Cell Significance Index: 46.4800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2206
    Cell Significance Index: 16.9300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.2120
    Cell Significance Index: 11.1300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1721
    Cell Significance Index: 10.5800
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.1674
    Cell Significance Index: 1.3700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1225
    Cell Significance Index: 3.2200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1107
    Cell Significance Index: 6.2100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0576
    Cell Significance Index: 108.5300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.0530
    Cell Significance Index: 1.8400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0192
    Cell Significance Index: 29.5100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0149
    Cell Significance Index: 10.9400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0146
    Cell Significance Index: 19.8900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0122
    Cell Significance Index: 22.5100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0115
    Cell Significance Index: 1.9600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0035
    Cell Significance Index: 2.2400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0019
    Cell Significance Index: 0.8800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0143
    Cell Significance Index: -10.8000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0371
    Cell Significance Index: -27.4900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0517
    Cell Significance Index: -7.5100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0573
    Cell Significance Index: -5.8500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0727
    Cell Significance Index: -40.9900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0733
    Cell Significance Index: -4.9300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0847
    Cell Significance Index: -52.8700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1021
    Cell Significance Index: -1.7500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1368
    Cell Significance Index: -15.9400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1449
    Cell Significance Index: -41.6900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1507
    Cell Significance Index: -3.2100
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.1721
    Cell Significance Index: -1.0400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1726
    Cell Significance Index: -5.0700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.1745
    Cell Significance Index: -28.3800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1888
    Cell Significance Index: -3.1600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.2040
    Cell Significance Index: -7.1700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2040
    Cell Significance Index: -5.7000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.2099
    Cell Significance Index: -20.7600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2199
    Cell Significance Index: -3.0000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2260
    Cell Significance Index: -4.7300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2354
    Cell Significance Index: -49.5800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2762
    Cell Significance Index: -31.6400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.2784
    Cell Significance Index: -4.6900
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.2794
    Cell Significance Index: -2.1100
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2809
    Cell Significance Index: -6.4900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3003
    Cell Significance Index: -3.5800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3305
    Cell Significance Index: -8.8400
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.3531
    Cell Significance Index: -6.2400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3870
    Cell Significance Index: -40.3000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.3919
    Cell Significance Index: -42.6300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3949
    Cell Significance Index: -31.2800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.4344
    Cell Significance Index: -4.0000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4461
    Cell Significance Index: -19.7300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4771
    Cell Significance Index: -15.2800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4875
    Cell Significance Index: -12.4600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.5466
    Cell Significance Index: -8.1900
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.5479
    Cell Significance Index: -8.8400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.5934
    Cell Significance Index: -22.4700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6475
    Cell Significance Index: -39.7000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.6534
    Cell Significance Index: -15.6700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Proteasome subunit**: PSMD12 is a non-ATPase regulatory subunit of the 26S proteasome complex, which is responsible for degrading proteins. 2. **Cellular expression**: PSMD12 is significantly expressed in various cell types, including pancreatic acinar cells, erythroid progenitor cells, and skeletal muscle satellite stem cells. 3. **Protein degradation**: PSMD12 plays a key role in the degradation of proteins, particularly those involved in cell cycle regulation, protein homeostasis, and signal transduction pathways. 4. **Regulation of cell cycle**: PSMD12 is involved in regulating the cell cycle, particularly in the G1/S transition and G2/M phases. 5. **Signaling pathways**: PSMD12 is involved in various signaling pathways, including Wnt/β-catenin, Hedgehog, and Notch signaling pathways. **Pathways and Functions** 1. **Abc-family proteins mediated transport**: PSMD12 is involved in the transport of proteins across cellular membranes. 2. **Adaptive immune system**: PSMD12 plays a role in the adaptive immune system, particularly in the regulation of T cell receptor signaling. 3. **Antigen processing-cross presentation**: PSMD12 is involved in the processing and presentation of antigens to the immune system. 4. **Apc/c-mediated degradation of cell cycle proteins**: PSMD12 regulates the degradation of cell cycle proteins, particularly those involved in the G1/S transition. 5. **Apoptosis**: PSMD12 is involved in regulating apoptosis, particularly in the degradation of pro-apoptotic proteins. 6. **Assembly of the pre-replicative complex**: PSMD12 regulates the assembly of the pre-replicative complex, which is essential for DNA replication. 7. **Cell cycle checkpoints**: PSMD12 is involved in regulating cell cycle checkpoints, particularly in the G1/S transition and G2/M phases. **Clinical Significance** 1. **Cancer**: PSMD12 mutations have been associated with various types of cancer, including pancreatic cancer, breast cancer, and colon cancer. 2. **Neurological disorders**: PSMD12 mutations have been associated with neurological disorders, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). 3. **Immunodeficiency**: PSMD12 mutations can lead to immunodeficiency, particularly in individuals with impaired T cell function. 4. **Protein aggregation**: PSMD12 mutations can lead to protein aggregation, particularly in individuals with neurodegenerative disorders. 5. **Therapeutic applications**: PSMD12 inhibitors have been explored as potential therapeutic agents for various diseases, including cancer and neurodegenerative disorders. In conclusion, PSMD12 is a critical gene involved in various cellular processes, including protein degradation, cell cycle regulation, and signaling pathways. Its dysregulation has been associated with various diseases, highlighting the importance of further research into the function and clinical significance of this gene.

Genular Protein ID: 442856162

Symbol: PSD12_HUMAN

Name: 26S proteasome non-ATPase regulatory subunit 12

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9426256

Title: cDNA cloning and functional analysis of p44.5 and p55, two regulatory subunits of the 26S proteasome.

PubMed ID: 9426256

DOI: 10.1016/s0378-1119(97)00524-6

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 1317798

Title: Demonstration that a human 26S proteolytic complex consists of a proteasome and multiple associated protein components and hydrolyzes ATP and ubiquitin-ligated proteins by closely linked mechanisms.

PubMed ID: 1317798

DOI: 10.1111/j.1432-1033.1992.tb16961.x

PubMed ID: 14654843

Title: Proteomic characterization of the human centrosome by protein correlation profiling.

PubMed ID: 14654843

DOI: 10.1038/nature02166

PubMed ID: 17323924

Title: Mass spectrometric characterization of the affinity-purified human 26S proteasome complex.

PubMed ID: 17323924

DOI: 10.1021/bi061994u

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25218447

Title: Uncovering global SUMOylation signaling networks in a site-specific manner.

PubMed ID: 25218447

DOI: 10.1038/nsmb.2890

PubMed ID: 25114211

Title: Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.

PubMed ID: 25114211

DOI: 10.1073/pnas.1413825111

PubMed ID: 25772364

Title: SUMO-2 orchestrates chromatin modifiers in response to DNA damage.

PubMed ID: 25772364

DOI: 10.1016/j.celrep.2015.02.033

PubMed ID: 26030138

Title: Identification of Novel Proteins Co-Purifying with Cockayne Syndrome Group B (CSB) Reveals Potential Roles for CSB in RNA Metabolism and Chromatin Dynamics.

PubMed ID: 26030138

DOI: 10.1371/journal.pone.0128558

PubMed ID: 28132691

Title: De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder.

PubMed ID: 28132691

DOI: 10.1016/j.ajhg.2017.01.003

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 27428775

Title: An atomic structure of the human 26S proteasome.

PubMed ID: 27428775

DOI: 10.1038/nsmb.3273

PubMed ID: 27342858

Title: Structure of the human 26S proteasome at a resolution of 3.9 Aa.

PubMed ID: 27342858

DOI: 10.1073/pnas.1608050113

Sequence Information:

  • Length: 456
  • Mass: 52904
  • Checksum: 97D0BDBDB0C96195
  • Sequence:
  • MADGGSERAD GRIVKMEVDY SATVDQRLPE CAKLAKEGRL QEVIETLLSL EKQTRTASDM 
    VSTSRILVAV VKMCYEAKEW DLLNENIMLL SKRRSQLKQA VAKMVQQCCT YVEEITDLPI 
    KLRLIDTLRM VTEGKIYVEI ERARLTKTLA TIKEQNGDVK EAASILQELQ VETYGSMEKK 
    ERVEFILEQM RLCLAVKDYI RTQIISKKIN TKFFQEENTE KLKLKYYNLM IQLDQHEGSY 
    LSICKHYRAI YDTPCIQAES EKWQQALKSV VLYVILAPFD NEQSDLVHRI SGDKKLEEIP 
    KYKDLLKLFT TMELMRWSTL VEDYGMELRK GSLESPATDV FGSTEEGEKR WKDLKNRVVE 
    HNIRIMAKYY TRITMKRMAQ LLDLSVDESE AFLSNLVVNK TIFAKVDRLA GIINFQRPKD 
    PNNLLNDWSQ KLNSLMSLVN KTTHLIAKEE MIHNLQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.