Details for: POMP

Gene ID: 51371

Symbol: POMP

Ensembl ID: ENSG00000132963

Description: proteasome maturation protein

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: 521.2632
    Cell Significance Index: -81.0800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 345.0120
    Cell Significance Index: -87.5100
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 268.7478
    Cell Significance Index: -110.7100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 234.3671
    Cell Significance Index: -110.6500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 202.6691
    Cell Significance Index: -104.2500
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 165.5683
    Cell Significance Index: -111.1000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 82.2171
    Cell Significance Index: -101.3700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 31.9576
    Cell Significance Index: -85.6100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 28.4867
    Cell Significance Index: -112.4100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 26.0072
    Cell Significance Index: -79.8800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 15.7910
    Cell Significance Index: -34.5600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 7.7831
    Cell Significance Index: 207.8200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 3.7811
    Cell Significance Index: 99.4300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 3.2601
    Cell Significance Index: 153.2200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 3.0803
    Cell Significance Index: 1682.2500
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 2.9393
    Cell Significance Index: 21.1100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 2.8235
    Cell Significance Index: 347.1700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 2.7636
    Cell Significance Index: 79.2200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.7588
    Cell Significance Index: 25.4100
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 2.7567
    Cell Significance Index: 48.7200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 2.6533
    Cell Significance Index: 171.1800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.6078
    Cell Significance Index: 307.5400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 2.6032
    Cell Significance Index: 469.2700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2.4892
    Cell Significance Index: 185.5200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.3646
    Cell Significance Index: 110.2500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 2.1536
    Cell Significance Index: 63.2500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 2.0825
    Cell Significance Index: 285.9800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 2.0087
    Cell Significance Index: 22.8200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.9793
    Cell Significance Index: 41.4300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.9567
    Cell Significance Index: 36.1700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.9389
    Cell Significance Index: 857.2300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.8476
    Cell Significance Index: 238.7000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.8239
    Cell Significance Index: 63.3800
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.7707
    Cell Significance Index: 14.1400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.6293
    Cell Significance Index: 115.2300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.6286
    Cell Significance Index: 44.3300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.4569
    Cell Significance Index: 186.7600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.3816
    Cell Significance Index: 72.5400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.9572
    Cell Significance Index: 94.6900
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: 0.9313
    Cell Significance Index: 4.3000
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 0.8542
    Cell Significance Index: 7.3400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.8362
    Cell Significance Index: 43.4400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6021
    Cell Significance Index: 120.7900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5800
    Cell Significance Index: 110.3800
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.5627
    Cell Significance Index: 3.4000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.4283
    Cell Significance Index: 73.1400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3723
    Cell Significance Index: 73.8800
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.2543
    Cell Significance Index: 1.5800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.2272
    Cell Significance Index: 2.4700
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.2153
    Cell Significance Index: 1.3300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.2023
    Cell Significance Index: 153.1200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1249
    Cell Significance Index: 44.7900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.1195
    Cell Significance Index: 2.0000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0758
    Cell Significance Index: 55.5600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0060
    Cell Significance Index: 11.2600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0296
    Cell Significance Index: -21.9400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0389
    Cell Significance Index: -3.9700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0460
    Cell Significance Index: -84.9000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0559
    Cell Significance Index: -86.0500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0565
    Cell Significance Index: -3.5600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0611
    Cell Significance Index: -38.1300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0674
    Cell Significance Index: -46.6300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0826
    Cell Significance Index: -112.3100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0919
    Cell Significance Index: -3.2300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0937
    Cell Significance Index: -15.2400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.1021
    Cell Significance Index: -64.8500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1319
    Cell Significance Index: -74.3800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1581
    Cell Significance Index: -71.7400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2047
    Cell Significance Index: -43.1100
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2588
    Cell Significance Index: -5.9800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2723
    Cell Significance Index: -78.3500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.4150
    Cell Significance Index: -47.5500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4228
    Cell Significance Index: -10.8000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.4917
    Cell Significance Index: -57.3100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.5279
    Cell Significance Index: -14.1200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.5643
    Cell Significance Index: -12.2300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.5651
    Cell Significance Index: -82.1400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.5857
    Cell Significance Index: -36.0000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.7053
    Cell Significance Index: -55.8600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.7740
    Cell Significance Index: -21.6300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.7950
    Cell Significance Index: -90.7500
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.8042
    Cell Significance Index: -12.0500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -1.0457
    Cell Significance Index: -108.8800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -1.0766
    Cell Significance Index: -82.6200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -1.0906
    Cell Significance Index: -61.2000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -1.1383
    Cell Significance Index: -15.5300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -1.2108
    Cell Significance Index: -38.7800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -1.3409
    Cell Significance Index: -90.1600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -1.5189
    Cell Significance Index: -40.7000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.6866
    Cell Significance Index: -35.9200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -1.7011
    Cell Significance Index: -77.1100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.7940
    Cell Significance Index: -109.9900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.9084
    Cell Significance Index: -56.2100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -1.9690
    Cell Significance Index: -20.3800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -2.0121
    Cell Significance Index: -89.0000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -2.0158
    Cell Significance Index: -24.0300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -2.0350
    Cell Significance Index: -52.3100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -2.2544
    Cell Significance Index: -113.9300
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -2.3054
    Cell Significance Index: -19.3700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -2.4377
    Cell Significance Index: -92.3100

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. **Expression Pattern:** POMP is widely expressed in various cell types, including hematopoietic cells, embryonic stem cells, and smooth muscle fibers. Its expression is also observed in peripheral blood mononuclear cells, indicating a role in immune cell function. 2. **Protein Structure:** POMP is a protein that interacts with the 26S proteasome, facilitating its maturation and assembly. 3. **Function:** POMP is essential for the proper functioning of the 26S proteasome, ensuring the degradation of proteins that are damaged, misfolded, or no longer required by the cell. 4. **Regulation:** POMP is regulated by various cellular mechanisms, including post-translational modifications and protein interactions. **Pathways and Functions:** 1. **Proteasome Assembly:** POMP plays a critical role in the assembly of the 26S proteasome, ensuring its proper maturation and function. 2. **Protein Degradation:** POMP is involved in the degradation of proteins that are damaged, misfolded, or no longer required by the cell, maintaining cellular homeostasis. 3. **Immune Regulation:** POMP is expressed in immune cells, suggesting its involvement in immune regulation and the modulation of immune responses. 4. **Cellular Stress Response:** POMP may play a role in the cellular stress response, helping to maintain cellular homeostasis in the face of stress or damage. **Clinical Significance:** 1. **Cancer:** Dysregulation of POMP has been implicated in various cancers, including leukemia and lymphoma, suggesting its potential as a therapeutic target. 2. **Autoimmune Disorders:** POMP may play a role in autoimmune disorders, such as rheumatoid arthritis and multiple sclerosis, highlighting its potential as a therapeutic target. 3. **Immunodeficiency Conditions:** POMP dysregulation has been linked to immunodeficiency conditions, such as severe combined immunodeficiency (SCID), emphasizing its importance in immune function. 4. **Infectious Diseases:** POMP may play a role in the regulation of immune responses to infectious diseases, such as HIV and tuberculosis. In conclusion, POMP is a critical gene involved in protein maturation and immune regulation. Its dysregulation has been implicated in various diseases, highlighting its potential as a therapeutic target. Further research is needed to fully understand the complex role of POMP in immune regulation and its potential applications in disease treatment.

Genular Protein ID: 1422336533

Symbol: POMP_HUMAN

Name: Proteassemblin

UniProtKB Accession Codes:

Q9Y244 A5HKJ2 D6MXU3 Q9HB69

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 12 EMDB 6 Ensembl 1 ExpressionAtlas 1 GO 7 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 SMR 1 STRING 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 20226437

Title: A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.

PubMed ID: 20226437

DOI: 10.1016/j.ajhg.2010.02.018

PubMed ID: 11042152

Title: Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.

PubMed ID: 11042152

DOI: 10.1101/gr.140200

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

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: 10926487

Title: Characterisation of the newly identified human Ump1 homologue POMP and analysis of LMP7(beta 5i) incorporation into 20 S proteasomes.

PubMed ID: 10926487

DOI: 10.1006/jmbi.2000.3959

PubMed ID: 10891394

Title: Identification of proteassemblin, a mammalian homologue of the yeast protein, Ump1p, that is required for normal proteasome assembly.

PubMed ID: 10891394

DOI: 10.1006/mcbr.2000.0213

PubMed ID: 10973495

Title: Identification and characterization of a mammalian protein interacting with 20S proteasome precursors.

PubMed ID: 10973495

DOI: 10.1073/pnas.190268597

PubMed ID: 14733938

Title: Protein-protein interactions among human 20S proteasome subunits and proteassemblin.

PubMed ID: 14733938

DOI: 10.1016/j.bbrc.2003.12.119

PubMed ID: 16251969

Title: A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes.

PubMed ID: 16251969

DOI: 10.1038/nature04106

PubMed ID: 15944226

Title: IFN-gamma-induced immune adaptation of the proteasome system is an accelerated and transient response.

PubMed ID: 15944226

DOI: 10.1073/pnas.0501711102

PubMed ID: 16624403

Title: Possible tetramerisation of the proteasome maturation factor POMP/proteassemblin/hUmp1 and its subcellular localisation.

PubMed ID: 16624403

DOI: 10.1016/j.ijbiomac.2006.03.015

PubMed ID: 17948026

Title: The proteasome maturation protein POMP facilitates major steps of 20S proteasome formation at the endoplasmic reticulum.

PubMed ID: 17948026

DOI: 10.1038/sj.embor.7401091

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23495936

Title: Molecular architecture and assembly of the eukaryotic proteasome.

PubMed ID: 23495936

DOI: 10.1146/annurev-biochem-060410-150257

PubMed ID: 26524591

Title: Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

PubMed ID: 26524591

DOI: 10.1172/jci81260

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: 29805043

Title: Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a nique immune dysregulatory syndrome.

PubMed ID: 29805043

DOI: 10.1016/j.ajhg.2018.04.010

Sequence Information:

  • Length: 141
  • Mass: 15789
  • Checksum: 2136624D232EF1C7
  • Sequence:
    • MNARGLGSEL KDSIPVTELS ASGPFESHDL LRKGFSCVKN ELLPSHPLEL SEKNFQLNQD 
KMNFSTLRNI QGLFAPLKLQ MEFKAVQQVQ RLPFLSSSNL SLDVLRGNDE TIGFEDILND 
PSQSEVMGEP HLMVEYKLGL L

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.