Details for: AAAS

Gene ID: 8086

Symbol: AAAS

Ensembl ID: ENSG00000094914

Description: aladin WD repeat nucleoporin

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: 74.2549
    Cell Significance Index: -11.5500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 57.2556
    Cell Significance Index: -14.5200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 47.3604
    Cell Significance Index: -19.5100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 38.5281
    Cell Significance Index: -18.1900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 38.4486
    Cell Significance Index: -15.6200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 16.4756
    Cell Significance Index: -15.7300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 13.1635
    Cell Significance Index: -16.2300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.1183
    Cell Significance Index: -16.3900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.4703
    Cell Significance Index: -17.6400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 3.9981
    Cell Significance Index: -12.2800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.5183
    Cell Significance Index: -7.7000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.5046
    Cell Significance Index: 244.7200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 1.4359
    Cell Significance Index: 15.6100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9975
    Cell Significance Index: 108.5000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.9731
    Cell Significance Index: 58.4200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.7912
    Cell Significance Index: 92.2000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.7324
    Cell Significance Index: 25.4500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.7018
    Cell Significance Index: 18.8100
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.6682
    Cell Significance Index: 5.3400
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.6470
    Cell Significance Index: 4.8900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.6468
    Cell Significance Index: 8.8300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.6163
    Cell Significance Index: 12.9000
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.6016
    Cell Significance Index: 7.7100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5066
    Cell Significance Index: 35.0400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4748
    Cell Significance Index: 94.2200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4389
    Cell Significance Index: 27.6600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3280
    Cell Significance Index: 9.4500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3270
    Cell Significance Index: 44.9100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3144
    Cell Significance Index: 14.2500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3076
    Cell Significance Index: 61.7000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3038
    Cell Significance Index: 8.4900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2894
    Cell Significance Index: 15.0400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2874
    Cell Significance Index: 7.8200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2767
    Cell Significance Index: 32.6300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2589
    Cell Significance Index: 5.6100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2520
    Cell Significance Index: 11.7500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2258
    Cell Significance Index: 28.9500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2205
    Cell Significance Index: 16.9200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2177
    Cell Significance Index: 118.9000
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.2145
    Cell Significance Index: 2.2200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2140
    Cell Significance Index: 38.5800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1998
    Cell Significance Index: 88.3600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1860
    Cell Significance Index: 35.3900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.1551
    Cell Significance Index: 2.2900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1403
    Cell Significance Index: 3.6900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1289
    Cell Significance Index: 15.8500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1176
    Cell Significance Index: 7.5900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1012
    Cell Significance Index: 36.3100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0814
    Cell Significance Index: 10.5100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0720
    Cell Significance Index: 2.5300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0667
    Cell Significance Index: 60.2700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0601
    Cell Significance Index: 5.9500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0565
    Cell Significance Index: 1.6600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0501
    Cell Significance Index: 3.5400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0497
    Cell Significance Index: 3.7100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0414
    Cell Significance Index: 2.0900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0379
    Cell Significance Index: 6.4800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0236
    Cell Significance Index: 0.7500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0179
    Cell Significance Index: 0.9400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0178
    Cell Significance Index: 33.4900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0131
    Cell Significance Index: 0.2800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0087
    Cell Significance Index: 0.1500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0069
    Cell Significance Index: 0.3600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0067
    Cell Significance Index: 9.0700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0034
    Cell Significance Index: 6.3100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0026
    Cell Significance Index: 0.0700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0005
    Cell Significance Index: 0.7900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0032
    Cell Significance Index: -2.0100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0040
    Cell Significance Index: -0.1900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0053
    Cell Significance Index: -3.9900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0109
    Cell Significance Index: -1.5800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0119
    Cell Significance Index: -8.7400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0130
    Cell Significance Index: -5.8900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0197
    Cell Significance Index: -2.0100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0210
    Cell Significance Index: -15.5400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0279
    Cell Significance Index: -15.7100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0333
    Cell Significance Index: -0.8500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0388
    Cell Significance Index: -24.2400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0476
    Cell Significance Index: -13.7100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0613
    Cell Significance Index: -3.4400
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.0649
    Cell Significance Index: -0.9100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0927
    Cell Significance Index: -10.6200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0968
    Cell Significance Index: -20.3900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1007
    Cell Significance Index: -1.7300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1166
    Cell Significance Index: -1.3900
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.1452
    Cell Significance Index: -1.2200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1530
    Cell Significance Index: -15.9300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1801
    Cell Significance Index: -11.0400
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.1850
    Cell Significance Index: -2.8100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1992
    Cell Significance Index: -15.7800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2085
    Cell Significance Index: -5.3600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2105
    Cell Significance Index: -5.6300
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.2503
    Cell Significance Index: -3.2100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.2652
    Cell Significance Index: -6.4700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2677
    Cell Significance Index: -11.8400
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.2732
    Cell Significance Index: -1.7100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2826
    Cell Significance Index: -8.1000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3144
    Cell Significance Index: -9.2600
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.3168
    Cell Significance Index: -1.8800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3169
    Cell Significance Index: -12.0000

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. **WD Repeat Domain**: The AAAS protein contains a WD repeat domain, which is a conserved motif found in proteins involved in signal transduction and nuclear transport. 2. **Nuclear Pore Complex (NPC) Component**: AAAS is a component of the NPC, which is responsible for the transport of molecules between the nucleus and cytoplasm. 3. **Antiviral Mechanism**: AAAS is involved in the antiviral mechanism of interferon-stimulated genes, which helps to prevent viral infections. 4. **Cell Cycle Regulation**: AAAS plays a role in regulating the cell cycle, particularly during mitosis and meiosis. 5. **Immune Response**: AAAS is involved in the regulation of immune responses, including the activation of cytokine signaling pathways. **Pathways and Functions** 1. **Nuclear Import of Rev Protein**: AAAS is involved in the nuclear import of the Rev protein, which is essential for the replication of HIV-1. 2. **Regulation of Glucokinase**: AAAS regulates the expression of glucokinase, a key enzyme involved in glucose metabolism. 3. **Heat Shock Response**: AAAS is involved in the regulation of the heat shock response, which helps to protect cells against heat stress. 4. **Cytokine Signaling**: AAAS is involved in the regulation of cytokine signaling pathways, which are essential for the activation of immune responses. 5. **Viral Messenger RNA Synthesis**: AAAS is involved in the transport of viral messenger RNA into the host nucleus, where it can be translated into proteins. **Clinical Significance** 1. **Thyroid Papillary Carcinoma (TPC)**: Defects in the AAAS gene may confer susceptibility to TPC, a type of thyroid cancer. 2. **Viral Infections**: AAAS plays a critical role in the regulation of viral infections, including HIV-1, SARS-CoV-2, and influenza. 3. **Immune Response**: AAAS is involved in the regulation of immune responses, which are essential for the protection against viral and bacterial infections. 4. **Cancer Research**: AAAS may be involved in the regulation of cancer cell growth and survival, making it a potential target for cancer therapy. In conclusion, the AAAS gene is a critical component of the nuclear pore complex and plays a vital role in various cellular processes, including antiviral mechanisms, cell cycle regulation, and immune responses. Its dysregulation may contribute to the development of various diseases, including thyroid papillary carcinoma and viral infections. Further research is needed to fully understand the functions and clinical significance of the AAAS gene.

Genular Protein ID: 1359976088

Symbol: AAAS_HUMAN

Name: Aladin

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11062474

Title: Mutant WD-repeat protein in triple-A syndrome.

PubMed ID: 11062474

DOI: 10.1038/81642

PubMed ID: 11159947

Title: Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.

PubMed ID: 11159947

DOI: 10.1093/hmg/10.3.283

PubMed ID: 16022285

Title: Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS.

PubMed ID: 16022285

DOI: 10.1007/s11033-004-6939-9

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

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: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19782045

Title: The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope.

PubMed ID: 19782045

DOI: 10.1016/j.bbrc.2009.09.080

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

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: 26246606

Title: The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation.

PubMed ID: 26246606

DOI: 10.1091/mbc.e15-02-0113

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27754849

Title: Identification of a novel putative interaction partner of the nucleoporin ALADIN.

PubMed ID: 27754849

DOI: 10.1242/bio.021162

Sequence Information:

  • Length: 546
  • Mass: 59574
  • Checksum: E0F4E7145D8C192E
  • Sequence:
  • MCSLGLFPPP PPRGQVTLYE HNNELVTGSS YESPPPDFRG QWINLPVLQL TKDPLKTPGR 
    LDHGTRTAFI HHREQVWKRC INIWRDVGLF GVLNEIANSE EEVFEWVKTA SGWALALCRW 
    ASSLHGSLFP HLSLRSEDLI AEFAQVTNWS SCCLRVFAWH PHTNKFAVAL LDDSVRVYNA 
    SSTIVPSLKH RLQRNVASLA WKPLSASVLA VACQSCILIW TLDPTSLSTR PSSGCAQVLS 
    HPGHTPVTSL AWAPSGGRLL SASPVDAAIR VWDVSTETCV PLPWFRGGGV TNLLWSPDGS 
    KILATTPSAV FRVWEAQMWT CERWPTLSGR CQTGCWSPDG SRLLFTVLGE PLIYSLSFPE 
    RCGEGKGCVG GAKSATIVAD LSETTIQTPD GEERLGGEAH SMVWDPSGER LAVLMKGKPR 
    VQDGKPVILL FRTRNSPVFE LLPCGIIQGE PGAQPQLITF HPSFNKGALL SVGWSTGRIA 
    HIPLYFVNAQ FPRFSPVLGR AQEPPAGGGG SIHDLPLFTE TSPTSAPWDP LPGPPPVLPH 
    SPHSHL

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.