Details for: PSMB9

Gene ID: 5698

Symbol: PSMB9

Ensembl ID: ENSG00000240065

Description: proteasome 20S subunit beta 9

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: 224.3720
    Cell Significance Index: -34.9000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 113.1796
    Cell Significance Index: -45.9800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 92.2849
    Cell Significance Index: -47.4700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 86.5241
    Cell Significance Index: -40.8500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 76.0517
    Cell Significance Index: -19.2900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 61.1604
    Cell Significance Index: -41.0400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 49.4583
    Cell Significance Index: -47.2200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 28.3303
    Cell Significance Index: -34.9300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 9.3207
    Cell Significance Index: -36.7800
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 8.8557
    Cell Significance Index: -27.2000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 6.8644
    Cell Significance Index: 201.6000
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: 6.2041
    Cell Significance Index: 16.6200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 5.2766
    Cell Significance Index: 97.5300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 3.6442
    Cell Significance Index: 189.8200
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 3.0874
    Cell Significance Index: 26.5300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.5755
    Cell Significance Index: 303.7300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 2.2321
    Cell Significance Index: 144.0100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 2.0747
    Cell Significance Index: 23.5700
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 1.4518
    Cell Significance Index: 25.6600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 1.2561
    Cell Significance Index: 33.6000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.0476
    Cell Significance Index: 103.6300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7954
    Cell Significance Index: 47.7500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.7110
    Cell Significance Index: 314.3700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6173
    Cell Significance Index: 67.1400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5250
    Cell Significance Index: 474.0000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.4714
    Cell Significance Index: 60.4300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3906
    Cell Significance Index: 18.3600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3873
    Cell Significance Index: 45.1300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3613
    Cell Significance Index: 49.6200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2896
    Cell Significance Index: 35.6100
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.1738
    Cell Significance Index: 2.6400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1730
    Cell Significance Index: 94.4900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1528
    Cell Significance Index: 7.9400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1279
    Cell Significance Index: 23.0700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0763
    Cell Significance Index: 14.5200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0598
    Cell Significance Index: 3.0200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0247
    Cell Significance Index: 1.7500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0222
    Cell Significance Index: 0.7100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0119
    Cell Significance Index: 1.2200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0082
    Cell Significance Index: 0.9500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0017
    Cell Significance Index: 1.2800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0082
    Cell Significance Index: -1.0700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0111
    Cell Significance Index: -20.8500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0162
    Cell Significance Index: -29.8200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0173
    Cell Significance Index: -26.5700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0268
    Cell Significance Index: -36.4900
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: -0.0330
    Cell Significance Index: -0.1800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0472
    Cell Significance Index: -34.9900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0521
    Cell Significance Index: -2.3600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0610
    Cell Significance Index: -44.7300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0648
    Cell Significance Index: -41.1600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0649
    Cell Significance Index: -36.5900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0659
    Cell Significance Index: -41.1600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0785
    Cell Significance Index: -15.5700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0902
    Cell Significance Index: -40.9600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0997
    Cell Significance Index: -35.7600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1045
    Cell Significance Index: -2.6700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1094
    Cell Significance Index: -18.6800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1294
    Cell Significance Index: -37.2300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1451
    Cell Significance Index: -5.1000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.1877
    Cell Significance Index: -37.6500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1879
    Cell Significance Index: -39.5700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2001
    Cell Significance Index: -29.0900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2047
    Cell Significance Index: -4.3600
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.2155
    Cell Significance Index: -1.8100
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2253
    Cell Significance Index: -5.2100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2391
    Cell Significance Index: -9.8000
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.2465
    Cell Significance Index: -4.2500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3498
    Cell Significance Index: -36.4200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3724
    Cell Significance Index: -27.7600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3891
    Cell Significance Index: -10.5900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3908
    Cell Significance Index: -18.2200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.3947
    Cell Significance Index: -11.0300
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.4061
    Cell Significance Index: -5.7700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.4376
    Cell Significance Index: -30.2700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.4551
    Cell Significance Index: -34.9200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.5360
    Cell Significance Index: -33.7800
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.5384
    Cell Significance Index: -8.3300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.5781
    Cell Significance Index: -15.2000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5928
    Cell Significance Index: -46.9500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.6091
    Cell Significance Index: -15.2300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.6377
    Cell Significance Index: -9.6100
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.6454
    Cell Significance Index: -9.6700
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: -0.6628
    Cell Significance Index: -4.7600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6722
    Cell Significance Index: -41.2100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.6986
    Cell Significance Index: -39.2000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.7289
    Cell Significance Index: -38.2700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.8138
    Cell Significance Index: -17.6300
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.8535
    Cell Significance Index: -8.6100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.8611
    Cell Significance Index: -24.8100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.8792
    Cell Significance Index: -38.8900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.8962
    Cell Significance Index: -25.6900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.9628
    Cell Significance Index: -35.3500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.9851
    Cell Significance Index: -13.4400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.0115
    Cell Significance Index: -26.0000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -1.0289
    Cell Significance Index: -38.9600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.0379
    Cell Significance Index: -36.3600
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -1.0556
    Cell Significance Index: -21.4800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -1.0760
    Cell Significance Index: -21.0000
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -1.1260
    Cell Significance Index: -48.9600

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 beta 9**: PSMB9 is a beta subunit of the 20S proteasome, which is a multi-subunit complex responsible for protein degradation. 2. **Antigen processing and presentation**: PSMB9 is involved in the degradation of antigens, which are then presented to the immune system via major histocompatibility complex (MHC) molecules. 3. **Cell cycle regulation**: PSMB9 is involved in the degradation of key proteins that regulate the cell cycle, ensuring proper cell division and preventing uncontrolled cell growth. 4. **Apoptosis**: PSMB9 is involved in the regulation of apoptosis, or programmed cell death, by degrading pro-apoptotic proteins. 5. **Immune system regulation**: PSMB9 is involved in the regulation of immune responses by degrading key proteins involved in immune signaling pathways. **Pathways and Functions** 1. **Proteasome-mediated degradation**: PSMB9 is involved in the degradation of damaged or unneeded proteins, regulating cellular homeostasis. 2. **Antigen processing and presentation**: PSMB9 is involved in the degradation of antigens, which are then presented to the immune system via MHC molecules. 3. **Cell cycle regulation**: PSMB9 is involved in the degradation of key proteins that regulate the cell cycle, ensuring proper cell division. 4. **Apoptosis**: PSMB9 is involved in the regulation of apoptosis, or programmed cell death, by degrading pro-apoptotic proteins. 5. **Immune system regulation**: PSMB9 is involved in the regulation of immune responses by degrading key proteins involved in immune signaling pathways. **Clinical Significance** 1. **Immunodeficiency disorders**: Mutations in the PSMB9 gene have been associated with immunodeficiency disorders, such as immunodeficiency with defective antigen processing and presentation. 2. **Cancer**: Abnormal expression of PSMB9 has been linked to cancer, as it can lead to the degradation of tumor suppressor proteins and the promotion of uncontrolled cell growth. 3. **Autoimmune diseases**: PSMB9 has been implicated in the regulation of autoimmune responses, as it can influence the presentation of antigens and the activation of immune cells. 4. **Neurological disorders**: PSMB9 has been linked to neurological disorders, such as Alzheimer's disease, as it can influence the degradation of proteins involved in neuronal function and survival. In conclusion, the PSMB9 gene plays a critical role in regulating protein degradation, antigen processing, and immune responses. Its dysregulation has been implicated in various diseases, including immunodeficiency disorders, cancer, autoimmune diseases, and neurological disorders. Further research is needed to fully understand the functions of PSMB9 and its role in human disease.

Genular Protein ID: 422645010

Symbol: PSB9_HUMAN

Name: Proteasome subunit beta type-9

UniProtKB Accession Codes:

P28065 B0V0T1 Q16523 Q5JNW4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEMBL 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EC 2 EMBL 16 EMDB 1 Ensembl 8 ExpressionAtlas 1 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MEROPS 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NIAGADS 1 OGP 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 2 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 59 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8458375

Title: The major histocompatibility complex-encoded proteasome component LMP7: alternative first exons and post-translational processing.

PubMed ID: 8458375

DOI: 10.1002/eji.1830230414

PubMed ID: 1453454

Title: DNA sequence analysis of 66 kb of the human MHC class II region encoding a cluster of genes for antigen processing.

PubMed ID: 1453454

DOI: 10.1016/0022-2836(92)90832-5

PubMed ID: 1922385

Title: Second proteasome-related gene in the human MHC class II region.

PubMed ID: 1922385

DOI: 10.1038/353667a0

PubMed ID: 1429565

Title: Alternative exon usage and processing of the major histocompatibility complex-encoded proteasome subunits.

PubMed ID: 1429565

DOI: 10.1016/s0021-9258(18)41645-6

PubMed ID: 8568858

Title: Evolutionary dynamics of non-coding sequences within the class II region of the human MHC.

PubMed ID: 8568858

DOI: 10.1006/jmbi.1996.0001

PubMed ID: 7829535

Title: Major histocompatibility-encoded human proteasome LMP2. Genomic organization and a new form of mRNA.

PubMed ID: 7829535

DOI: 10.1074/jbc.270.4.1966

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 8163024

Title: Replacement of proteasome subunits X and Y by LMP7 and LMP2 induced by interferon-gamma for acquirement of the functional diversity responsible for antigen processing.

PubMed ID: 8163024

DOI: 10.1016/0014-5793(94)80612-8

PubMed ID: 9003765

Title: Analysis of mammalian 20S proteasome biogenesis: the maturation of beta-subunits is an ordered two-step mechanism involving autocatalysis.

PubMed ID: 9003765

DOI: 10.1002/j.1460-2075.1996.tb01081.x

PubMed ID: 8663318

Title: Proteasome subunits X and Y alter peptidase activities in opposite ways to the interferon-gamma-induced subunits LMP2 and LMP7.

PubMed ID: 8663318

DOI: 10.1074/jbc.271.29.17275

PubMed ID: 11493458

Title: Tumor necrosis factor-alpha induces coordinated changes in major histocompatibility class I presentation pathway, resulting in increased stability of class I complexes at the cell surface.

PubMed ID: 11493458

DOI: 10.1182/blood.v98.4.1108

PubMed ID: 11717192

Title: Bipartite regulation of different components of the MHC class I antigen-processing machinery during dendritic cell maturation.

PubMed ID: 11717192

DOI: 10.1093/intimm/13.12.1515

PubMed ID: 14550573

Title: Human immunodeficiency virus-1 Tat protein interacts with distinct proteasomal alpha and beta subunits.

PubMed ID: 14550573

DOI: 10.1016/s0014-5793(03)01025-1

PubMed ID: 15501285

Title: Potential effects of tetrodotoxin exposure to human glial cells postulated using microarray approach.

PubMed ID: 15501285

DOI: 10.1016/j.toxicon.2004.07.018

PubMed ID: 15907481

Title: IRF-1 mediates upregulation of LMP7 by IFN-gamma and concerted expression of immunosubunits of the proteasome.

PubMed ID: 15907481

DOI: 10.1016/j.febslet.2005.04.012

PubMed ID: 16957778

Title: The catalytic subunit of the proteasome is engaged in the entire process of estrogen receptor-regulated transcription.

PubMed ID: 16957778

DOI: 10.1038/sj.emboj.7601306

PubMed ID: 17142736

Title: Heat shock up-regulates lmp2 and lmp7 and enhances presentation of immunoproteasome-dependent epitopes.

PubMed ID: 17142736

DOI: 10.4049/jimmunol.177.12.8393

PubMed ID: 17262812

Title: Genome-wide gene expression differences in Crohn's disease and ulcerative colitis from endoscopic pinch biopsies: insights into distinctive pathogenesis.

PubMed ID: 17262812

DOI: 10.1002/ibd.20110

PubMed ID: 18694960

Title: CD40 induces antigen transporter and immunoproteasome gene expression in carcinomas via the coordinated action of NF-kappaB and of NF-kappaB-mediated de novo synthesis of IRF-1.

PubMed ID: 18694960

DOI: 10.1128/mcb.00611-08

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: 10924276

Title: Complex association analysis of Graves disease using a set of polymorphic markers.

PubMed ID: 10924276

DOI: 10.1006/mgme.2000.3007

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: 33727065

Title: Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor.

PubMed ID: 33727065

DOI: 10.1016/j.jaci.2021.03.010

PubMed ID: 34819510

Title: Heterozygous missense variant of the proteasome subunit beta-type 9 causes neonatal-onset autoinflammation and immunodeficiency.

PubMed ID: 34819510

DOI: 10.1038/s41467-021-27085-y

Sequence Information:

  • Length: 219
  • Mass: 23264
  • Checksum: 3B321F83641941AC
  • Sequence:
    • MLRAGAPTGD LPRAGEVHTG TTIMAVEFDG GVVMGSDSRV SAGEAVVNRV FDKLSPLHER 
IYCALSGSAA DAQAVADMAA YQLELHGIEL EEPPLVLAAA NVVRNISYKY REDLSAHLMV 
AGWDQREGGQ VYGTLGGMLT RQPFAIGGSG STFIYGYVDA AYKPGMSPEE CRRFTTDAIA 
LAMSRDGSSG GVIYLVTITA AGVDHRVILG NELPKFYDE

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.