Details for: VPS4A

Gene ID: 27183

Symbol: VPS4A

Ensembl ID: ENSG00000132612

Description: vacuolar protein sorting 4 homolog A

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: 178.4690
    Cell Significance Index: -27.7600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 118.6114
    Cell Significance Index: -30.0900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 69.7488
    Cell Significance Index: -32.9300
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 62.2102
    Cell Significance Index: -32.0000
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 49.0893
    Cell Significance Index: -32.9400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 26.4081
    Cell Significance Index: -32.5600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.4966
    Cell Significance Index: -25.4400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.4870
    Cell Significance Index: -33.4900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.7676
    Cell Significance Index: -17.0000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 2.2708
    Cell Significance Index: 157.0400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.8457
    Cell Significance Index: 300.1900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.6107
    Cell Significance Index: 84.5700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.1423
    Cell Significance Index: 124.2500
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.9738
    Cell Significance Index: 8.1800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.8821
    Cell Significance Index: 24.0100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.8573
    Cell Significance Index: 246.6600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.7374
    Cell Significance Index: 34.3800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.7039
    Cell Significance Index: 45.4200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6965
    Cell Significance Index: 139.7200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5769
    Cell Significance Index: 79.2300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5608
    Cell Significance Index: 101.1000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.5428
    Cell Significance Index: 15.9400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5263
    Cell Significance Index: 15.1700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5041
    Cell Significance Index: 22.8500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4987
    Cell Significance Index: 61.3200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.4604
    Cell Significance Index: 78.6200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4431
    Cell Significance Index: 195.9000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4392
    Cell Significance Index: 27.6800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.4381
    Cell Significance Index: 20.5900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4236
    Cell Significance Index: 84.0700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4163
    Cell Significance Index: 375.8500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.3999
    Cell Significance Index: 28.2800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.3597
    Cell Significance Index: 7.5300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.3384
    Cell Significance Index: 39.9100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3374
    Cell Significance Index: 43.5900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3333
    Cell Significance Index: 182.0300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3025
    Cell Significance Index: 108.5100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2820
    Cell Significance Index: 21.0200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2643
    Cell Significance Index: 33.8900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.2463
    Cell Significance Index: 8.5600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2380
    Cell Significance Index: 14.6300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2369
    Cell Significance Index: 12.3100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.2327
    Cell Significance Index: 3.9000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.1389
    Cell Significance Index: 1.5100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1305
    Cell Significance Index: 12.9100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1246
    Cell Significance Index: 3.3400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1097
    Cell Significance Index: 2.9300
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.0960
    Cell Significance Index: 0.7400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0616
    Cell Significance Index: 11.7300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0322
    Cell Significance Index: 1.1300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0144
    Cell Significance Index: 0.4600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0107
    Cell Significance Index: 20.0600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0045
    Cell Significance Index: 0.1300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0004
    Cell Significance Index: 0.0100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0003
    Cell Significance Index: -0.4100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0021
    Cell Significance Index: -3.8700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0068
    Cell Significance Index: -9.1900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0082
    Cell Significance Index: -0.1400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0116
    Cell Significance Index: -7.2500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0120
    Cell Significance Index: -9.0900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0145
    Cell Significance Index: -10.7100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0159
    Cell Significance Index: -11.6800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0231
    Cell Significance Index: -14.6400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0247
    Cell Significance Index: -0.6900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0288
    Cell Significance Index: -16.2600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0338
    Cell Significance Index: -2.5900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0446
    Cell Significance Index: -4.5600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0464
    Cell Significance Index: -21.0500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0794
    Cell Significance Index: -16.7300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0828
    Cell Significance Index: -12.0400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1217
    Cell Significance Index: -8.1800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1382
    Cell Significance Index: -3.5300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1403
    Cell Significance Index: -16.0700
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.1449
    Cell Significance Index: -2.5600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1485
    Cell Significance Index: -3.0800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1597
    Cell Significance Index: -18.6100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1973
    Cell Significance Index: -11.0700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2146
    Cell Significance Index: -4.6500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2298
    Cell Significance Index: -26.2300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2340
    Cell Significance Index: -5.8500
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.2632
    Cell Significance Index: -1.5900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3031
    Cell Significance Index: -31.5700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3111
    Cell Significance Index: -2.8700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3179
    Cell Significance Index: -14.0600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.3190
    Cell Significance Index: -4.7800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3201
    Cell Significance Index: -25.3500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.3276
    Cell Significance Index: -4.4700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.3461
    Cell Significance Index: -8.3000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4059
    Cell Significance Index: -15.3700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.4506
    Cell Significance Index: -4.6700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4552
    Cell Significance Index: -12.1800
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.4867
    Cell Significance Index: -11.2500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5089
    Cell Significance Index: -31.2000
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.5162
    Cell Significance Index: -9.5400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.5281
    Cell Significance Index: -15.0700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.5333
    Cell Significance Index: -6.6200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.5583
    Cell Significance Index: -11.8900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.5973
    Cell Significance Index: -7.1200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.6466
    Cell Significance Index: -22.6500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.6659
    Cell Significance Index: -14.5800

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:** VPS4A is a member of the VPS4 family of proteins, which are involved in the regulation of protein degradation and autophagy. The gene encodes a protein that is localized to the cytosol and is involved in the regulation of protein localization, cell cycle progression, and the maturation of autophagosomes. VPS4A is also involved in the regulation of viral budding and the maturation of HIV virions. The gene is highly expressed in cells that undergo rapid cell division, such as proerythroblasts and large pre-B-II cells. **Pathways and Functions:** VPS4A is involved in the following pathways and functions: 1. **Autophagy:** VPS4A is involved in the maturation of autophagosomes and the regulation of protein degradation. 2. **Cell Division:** VPS4A is involved in the regulation of cell cycle progression, particularly during mitosis and cytokinesis. 3. **Viral Infection:** VPS4A is involved in the regulation of viral budding and the maturation of HIV virions. 4. **Endosomal Sorting Complex Required for Transport (ESCRT):** VPS4A is involved in the regulation of ESCRT complex disassembly and the maturation of autophagosomes. 5. **Protein Localization:** VPS4A is involved in the regulation of protein localization, particularly to the plasma membrane and lysosomes. **Clinical Significance:** Dysregulation of VPS4A has been implicated in various diseases, including: 1. **Cancer:** Overexpression of VPS4A has been observed in various types of cancer, including breast cancer and lung cancer. 2. **Neurodegenerative Disorders:** VPS4A has been implicated in the regulation of protein aggregation and the progression of neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. 3. **Infectious Diseases:** VPS4A is involved in the regulation of viral budding and the maturation of HIV virions, making it a potential target for antiviral therapy. In conclusion, VPS4A is a multifaceted gene that plays a critical role in various cellular processes, including autophagy, cell division, and viral infection. Its dysregulation has been implicated in various diseases, making it a potential target for therapeutic intervention. Further research is needed to fully understand the functions and clinical significance of VPS4A.

Genular Protein ID: 3848136103

Symbol: VPS4A_HUMAN

Name: Protein SKD2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11563910

Title: Mammalian cells express two VPS4 proteins both of which are involved in intracellular protein trafficking.

PubMed ID: 11563910

DOI: 10.1006/jmbi.2001.4917

PubMed ID: 12594041

Title: Comparative sequence and expression analyses of four mammalian VPS4 genes.

PubMed ID: 12594041

DOI: 10.1016/s0378-1119(02)01205-2

PubMed ID: 10931946

Title: Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.

PubMed ID: 10931946

DOI: 10.1073/pnas.160270997

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 10637304

Title: ATPase-defective mammalian VPS4 localizes to aberrant endosomes and impairs cholesterol trafficking.

PubMed ID: 10637304

DOI: 10.1091/mbc.11.1.227

PubMed ID: 11595185

Title: Tsg101 and the vacuolar protein sorting pathway are essential for HIV-1 budding.

PubMed ID: 11595185

DOI: 10.1016/s0092-8674(01)00506-2

PubMed ID: 11559748

Title: CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins.

PubMed ID: 11559748

DOI: 10.1242/jcs.114.13.2395

PubMed ID: 14505570

Title: The protein network of HIV budding.

PubMed ID: 14505570

DOI: 10.1016/s0092-8674(03)00714-1

PubMed ID: 14519844

Title: Divergent retroviral late-budding domains recruit vacuolar protein sorting factors by using alternative adaptor proteins.

PubMed ID: 14519844

DOI: 10.1073/pnas.2133846100

PubMed ID: 15075231

Title: ATPase-deficient hVPS4 impairs formation of internal endosomal vesicles and stabilizes bilayered clathrin coats on endosomal vacuoles.

PubMed ID: 15075231

DOI: 10.1242/jcs.00998

PubMed ID: 16193069

Title: Structural and mechanistic studies of VPS4 proteins.

PubMed ID: 16193069

DOI: 10.1038/sj.emboj.7600818

PubMed ID: 17853893

Title: Human ESCRT and ALIX proteins interact with proteins of the midbody and function in cytokinesis.

PubMed ID: 17853893

DOI: 10.1038/sj.emboj.7601850

PubMed ID: 18997780

Title: Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B.

PubMed ID: 18997780

DOI: 10.1038/nsmb.1512

PubMed ID: 19129480

Title: Essential role of hIST1 in cytokinesis.

PubMed ID: 19129480

DOI: 10.1091/mbc.e08-05-0474

PubMed ID: 19129479

Title: Biochemical analyses of human IST1 and its function in cytokinesis.

PubMed ID: 19129479

DOI: 10.1091/mbc.e08-05-0475

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: 21543490

Title: Mechanism of inhibition of retrovirus release from cells by interferon-induced gene ISG15.

PubMed ID: 21543490

DOI: 10.1128/jvi.02610-10

PubMed ID: 22660413

Title: Syndecan-syntenin-ALIX regulates the biogenesis of exosomes.

PubMed ID: 22660413

DOI: 10.1038/ncb2502

PubMed ID: 24814515

Title: ANCHR mediates Aurora-B-dependent abscission checkpoint control through retention of VPS4.

PubMed ID: 24814515

DOI: 10.1038/ncb2959

PubMed ID: 16174732

Title: Structure and ESCRT-III protein interactions of the MIT domain of human VPS4A.

PubMed ID: 16174732

DOI: 10.1073/pnas.0502165102

PubMed ID: 17928862

Title: ESCRT-III recognition by VPS4 ATPases.

PubMed ID: 17928862

DOI: 10.1038/nature06172

PubMed ID: 18606141

Title: Two distinct modes of ESCRT-III recognition are required for VPS4 functions in lysosomal protein targeting and HIV-1 budding.

PubMed ID: 18606141

DOI: 10.1016/j.devcel.2008.05.014

PubMed ID: 25356899

Title: De novo mutations in moderate or severe intellectual disability.

PubMed ID: 25356899

DOI: 10.1371/journal.pgen.1004772

PubMed ID: 33186545

Title: De Novo VPS4A mutations cause multisystem disease with abnormal neurodevelopment.

PubMed ID: 33186545

DOI: 10.1016/j.ajhg.2020.10.012

PubMed ID: 33186543

Title: VPS4A mutations in humans cause syndromic congenital dyserythropoietic anemia due to cytokinesis and trafficking defects.

PubMed ID: 33186543

DOI: 10.1016/j.ajhg.2020.10.013

PubMed ID: 33460484

Title: VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis.

PubMed ID: 33460484

DOI: 10.1002/ajh.26099

Sequence Information:

  • Length: 437
  • Mass: 48898
  • Checksum: C3CC556FB84F105C
  • Sequence:
  • MTTSTLQKAI DLVTKATEED KAKNYEEALR LYQHAVEYFL HAIKYEAHSD KAKESIRAKC 
    VQYLDRAEKL KDYLRSKEKH GKKPVKENQS EGKGSDSDSE GDNPEKKKLQ EQLMGAVVME 
    KPNIRWNDVA GLEGAKEALK EAVILPIKFP HLFTGKRTPW RGILLFGPPG TGKSYLAKAV 
    ATEANNSTFF SVSSSDLMSK WLGESEKLVK NLFELARQHK PSIIFIDEVD SLCGSRNENE 
    SEAARRIKTE FLVQMQGVGN NNDGTLVLGA TNIPWVLDSA IRRRFEKRIY IPLPEEAARA 
    QMFRLHLGST PHNLTDANIH ELARKTEGYS GADISIIVRD SLMQPVRKVQ SATHFKKVCG 
    PSRTNPSMMI DDLLTPCSPG DPGAMEMTWM DVPGDKLLEP VVCMSDMLRS LATTRPTVNA 
    DDLLKVKKFS EDFGQES

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.