Details for: AAAS

Gene ID: 8086

Symbol: AAAS

Ensembl ID: ENSG00000094914

Description: aladin WD repeat nucleoporin

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 2.46
    Marker Score: 1966
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.35
    Marker Score: 1404
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.29
    Marker Score: 371
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.28
    Marker Score: 5016.5
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.24
    Marker Score: 1316
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.23
    Marker Score: 2561
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.2
    Marker Score: 2045
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.19
    Marker Score: 1489
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.16
    Marker Score: 789
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.15
    Marker Score: 1659
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.09
    Marker Score: 817
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.05
    Marker Score: 2863
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.04
    Marker Score: 573
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.02
    Marker Score: 963
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71721.5
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47946
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30396
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.97
    Marker Score: 974.5
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.97
    Marker Score: 15136
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.96
    Marker Score: 238
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2398
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.94
    Marker Score: 12370
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 482
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 437
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.92
    Marker Score: 617
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.91
    Marker Score: 1216
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.9
    Marker Score: 5881
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2704
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.9
    Marker Score: 962
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.9
    Marker Score: 9016.5
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.89
    Marker Score: 559
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5291
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.87
    Marker Score: 939
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 310
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.85
    Marker Score: 2316
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.85
    Marker Score: 451
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.84
    Marker Score: 4817
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.82
    Marker Score: 408
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.82
    Marker Score: 263
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.8
    Marker Score: 731
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.79
    Marker Score: 1860
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.78
    Marker Score: 182
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.76
    Marker Score: 3128
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 306
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 580
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.75
    Marker Score: 212
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.73
    Marker Score: 531.5
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 375
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.71
    Marker Score: 1665.5
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.69
    Marker Score: 779
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.69
    Marker Score: 2897.5
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.69
    Marker Score: 730
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.69
    Marker Score: 241
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.69
    Marker Score: 362
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.68
    Marker Score: 641
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 619
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.68
    Marker Score: 1107
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.67
    Marker Score: 226.5
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.66
    Marker Score: 357
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.65
    Marker Score: 3831
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.65
    Marker Score: 316
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.63
    Marker Score: 203
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.63
    Marker Score: 2710
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.63
    Marker Score: 888
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.62
    Marker Score: 375
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.62
    Marker Score: 1268
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.62
    Marker Score: 396
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.62
    Marker Score: 366
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.62
    Marker Score: 2280
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.6
    Marker Score: 630
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.6
    Marker Score: 6988
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.6
    Marker Score: 1599.5
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.59
    Marker Score: 157
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.59
    Marker Score: 910.5
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.59
    Marker Score: 526
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.59
    Marker Score: 240
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.59
    Marker Score: 324
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.59
    Marker Score: 367
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.59
    Marker Score: 1736
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.58
    Marker Score: 385
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.58
    Marker Score: 148
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.58
    Marker Score: 956
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.58
    Marker Score: 3459
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.57
    Marker Score: 1357
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.57
    Marker Score: 333
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.57
    Marker Score: 236
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.56
    Marker Score: 266
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.56
    Marker Score: 176
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.56
    Marker Score: 355
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.56
    Marker Score: 4157
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.56
    Marker Score: 205
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.55
    Marker Score: 274
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.55
    Marker Score: 269
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.55
    Marker Score: 477
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 433
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.54
    Marker Score: 669
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.54
    Marker Score: 226
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.54
    Marker Score: 541.5

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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:

Q9NRG9 Q5JB47 Q9NWI6 Q9UG19

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 25 EMDB 2 EPD 1 Ensembl 4 ExpressionAtlas 1 GO 18 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PRO 1 PROSITE 3 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 29 RefSeq 2 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.