Details for: AARS1

Gene ID: 16

Symbol: AARS1

Ensembl ID: ENSG00000090861

Description: alanyl-tRNA synthetase 1

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: 169.6613
    Cell Significance Index: -26.3900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 111.1403
    Cell Significance Index: -28.1900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 71.4654
    Cell Significance Index: -29.4400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 65.3773
    Cell Significance Index: -26.5600
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 47.4835
    Cell Significance Index: -31.8600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 28.0390
    Cell Significance Index: -26.7700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 23.6018
    Cell Significance Index: -29.1000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 7.9441
    Cell Significance Index: -24.4000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.4834
    Cell Significance Index: -29.5300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.2957
    Cell Significance Index: -11.5900
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.6708
    Cell Significance Index: 26.8100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.3375
    Cell Significance Index: 268.3100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.1447
    Cell Significance Index: 68.7200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.0511
    Cell Significance Index: 114.3300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.0340
    Cell Significance Index: 205.2100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.9173
    Cell Significance Index: 48.1600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.8504
    Cell Significance Index: 138.3100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.7859
    Cell Significance Index: 49.5300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.7823
    Cell Significance Index: 280.5800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5069
    Cell Significance Index: 35.0600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4992
    Cell Significance Index: 345.2500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.4950
    Cell Significance Index: 7.4600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3575
    Cell Significance Index: 10.3000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3562
    Cell Significance Index: 16.6100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3491
    Cell Significance Index: 42.9200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3431
    Cell Significance Index: 309.8100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.3263
    Cell Significance Index: 3.8900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3185
    Cell Significance Index: 8.6700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3151
    Cell Significance Index: 56.8000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.3060
    Cell Significance Index: 15.9400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2679
    Cell Significance Index: 50.9800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2318
    Cell Significance Index: 126.6000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.2197
    Cell Significance Index: 2.7300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2083
    Cell Significance Index: 28.6000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1815
    Cell Significance Index: 17.9500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1782
    Cell Significance Index: 11.9800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1592
    Cell Significance Index: 4.4500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1360
    Cell Significance Index: 10.4400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1279
    Cell Significance Index: 21.8400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1240
    Cell Significance Index: 15.9000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1080
    Cell Significance Index: 5.6100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1024
    Cell Significance Index: 12.0800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0976
    Cell Significance Index: 43.1500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0895
    Cell Significance Index: 3.9600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0635
    Cell Significance Index: 3.2100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0549
    Cell Significance Index: 0.9400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0453
    Cell Significance Index: 85.3400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0438
    Cell Significance Index: 1.2500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0384
    Cell Significance Index: 1.7400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0343
    Cell Significance Index: 1.9300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0340
    Cell Significance Index: 62.6400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0293
    Cell Significance Index: 1.1100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0166
    Cell Significance Index: 22.5300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0146
    Cell Significance Index: 0.6900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0124
    Cell Significance Index: 7.8700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0078
    Cell Significance Index: 12.0600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0040
    Cell Significance Index: 3.0300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0034
    Cell Significance Index: 0.0900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0012
    Cell Significance Index: -0.5300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0075
    Cell Significance Index: -0.1600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0086
    Cell Significance Index: -6.2800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0229
    Cell Significance Index: -2.9600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0288
    Cell Significance Index: -4.1800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0346
    Cell Significance Index: -2.5800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0394
    Cell Significance Index: -29.1500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0402
    Cell Significance Index: -4.1100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0403
    Cell Significance Index: -1.4200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0508
    Cell Significance Index: -31.7100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0509
    Cell Significance Index: -28.7000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0634
    Cell Significance Index: -1.6300
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0860
    Cell Significance Index: -2.7200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0931
    Cell Significance Index: -26.7800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1008
    Cell Significance Index: -11.5500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1152
    Cell Significance Index: -2.3900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1524
    Cell Significance Index: -9.8400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1588
    Cell Significance Index: -33.4500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1767
    Cell Significance Index: -5.6600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1820
    Cell Significance Index: -12.8700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1924
    Cell Significance Index: -3.2200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2178
    Cell Significance Index: -4.7700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2403
    Cell Significance Index: -6.1400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2442
    Cell Significance Index: -6.4200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2476
    Cell Significance Index: -25.7800
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.2665
    Cell Significance Index: -2.2000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2995
    Cell Significance Index: -18.3600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3067
    Cell Significance Index: -24.2900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3115
    Cell Significance Index: -8.9300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3358
    Cell Significance Index: -11.6700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3628
    Cell Significance Index: -7.7000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.4270
    Cell Significance Index: -9.2500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.4920
    Cell Significance Index: -14.4500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.5225
    Cell Significance Index: -13.0600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.5267
    Cell Significance Index: -10.4200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.5406
    Cell Significance Index: -11.6800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5413
    Cell Significance Index: -17.2400
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.5555
    Cell Significance Index: -4.5300
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.5614
    Cell Significance Index: -12.9700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.5673
    Cell Significance Index: -11.3900
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.5711
    Cell Significance Index: -9.6200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5779
    Cell Significance Index: -18.9200

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. **Aminoacyl-tRNA editing**: AARS1 is responsible for the hydrolysis of alanyl-tRNA, a process that corrects errors in aminoacyl-tRNA charging, ensuring the accurate incorporation of amino acids into proteins. 2. **Cytosolic localization**: AARS1 is a cytosolic enzyme, suggesting its role in regulating protein synthesis and cellular processes within the cytosol. 3. **Significant expression**: AARS1 is expressed in a wide range of cell types, including neurons, cardiac muscle cells, and immune cells, underscoring its importance in various cellular processes. 4. **Zinc-binding domain**: The presence of a zinc-binding domain in AARS1 suggests its potential involvement in metal-dependent enzymatic activities. **Pathways and Functions** 1. **Translation regulation**: AARS1 plays a critical role in regulating translation by editing aminoacyl-tRNA molecules, ensuring the accurate incorporation of amino acids into proteins. 2. **Protein synthesis fidelity**: AARS1 helps maintain protein synthesis fidelity by correcting errors in aminoacyl-tRNA charging, preventing aberrant protein synthesis. 3. **Neuronal development and function**: AARS1 is significantly expressed in neuronal cell types, suggesting its role in regulating neuronal development, differentiation, and function. 4. **Cardiac muscle function**: AARS1 is expressed in cardiac muscle cells, highlighting its potential involvement in regulating cardiac muscle function and development. **Clinical Significance** 1. **Neurodegenerative diseases**: Dysregulation of AARS1 has been implicated in neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease, highlighting its potential as a therapeutic target. 2. **Cancer**: AARS1 has been identified as a potential biomarker for renal carcinoma, suggesting its potential role in cancer diagnosis and treatment. 3. **Cardiac disorders**: AARS1 may play a role in regulating cardiac muscle function, making it a potential target for the treatment of cardiac disorders. In conclusion, AARS1 is a crucial gene that plays a pivotal role in regulating protein synthesis and cellular processes. Its dysregulation has been implicated in various diseases, highlighting its potential as a therapeutic target. Further research is necessary to fully elucidate the functions and clinical significance of AARS1, but its importance in maintaining translational fidelity and cellular regulation is undeniable.

Genular Protein ID: 145001487

Symbol: SYAC_HUMAN

Name: Renal carcinoma antigen NY-REN-42

UniProtKB Accession Codes:

P49588 A6NF14 B4DR45 Q53GV7 Q96FA0

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CPTAC 2 CTD 1 ChEBI 28 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 6 Ensembl 4 ExpressionAtlas 1 GO 21 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 9 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 4 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7654687

Title: Human alanyl-tRNA synthetase: conservation in evolution of catalytic core and microhelix recognition.

PubMed ID: 7654687

DOI: 10.1021/bi00033a004

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

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: 10508479

Title: Antigens recognized by autologous antibody in patients with renal-cell carcinoma.

PubMed ID: 10508479

DOI: 10.1002/(sici)1097-0215(19991112)83:4<456::aid-ijc4>3.0.co;2-5

PubMed ID: 16139798

Title: Proteomic identification of proteins conjugated to ISG15 in mouse and human cells.

PubMed ID: 16139798

DOI: 10.1016/j.bbrc.2005.08.132

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19661429

Title: The C-Ala domain brings together editing and aminoacylation functions on one tRNA.

PubMed ID: 19661429

DOI: 10.1126/science.1174343

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: 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: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

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: 25817015

Title: Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.

PubMed ID: 25817015

DOI: 10.1016/j.ajhg.2015.02.012

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 31775912

Title: An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.

PubMed ID: 31775912

DOI: 10.1186/s40478-019-0843-y

PubMed ID: 33909043

Title: Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.

PubMed ID: 33909043

DOI: 10.1093/hmg/ddab123

PubMed ID: 38653238

Title: Alanyl-tRNA synthetase, AARS1, is a lactate sensor and lactyltransferase that lactylates p53 and contributes to tumorigenesis.

PubMed ID: 38653238

DOI: 10.1016/j.cell.2024.04.002

PubMed ID: 38512451

Title: The alanyl-tRNA synthetase AARS1 moonlights as a lactyltransferase to promote YAP signaling in gastric cancer.

PubMed ID: 38512451

DOI: 10.1172/jci174587

PubMed ID: 27622773

Title: Evolutionary Gain of Alanine Mischarging to Noncognate tRNAs with a G4:U69 Base Pair.

PubMed ID: 27622773

DOI: 10.1021/jacs.6b07121

PubMed ID: 27911835

Title: Two crystal structures reveal design for repurposing the C-Ala domain of human AlaRS.

PubMed ID: 27911835

DOI: 10.1073/pnas.1617316113

PubMed ID: 29273753

Title: Double mimicry evades tRNA synthetase editing by toxic vegetable-sourced non-proteinogenic amino acid.

PubMed ID: 29273753

DOI: 10.1038/s41467-017-02201-z

PubMed ID: 32611769

Title: Methyltransferase-like 21C (METTL21C) methylates alanine tRNA synthetase at Lys-943 in muscle tissue.

PubMed ID: 32611769

DOI: 10.1074/jbc.ra120.014505

PubMed ID: 20045102

Title: A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.

PubMed ID: 20045102

DOI: 10.1016/j.ajhg.2009.12.005

PubMed ID: 22206013

Title: The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

PubMed ID: 22206013

DOI: 10.1371/journal.pone.0029393

PubMed ID: 22009580

Title: A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).

PubMed ID: 22009580

DOI: 10.1002/humu.21635

PubMed ID: 24627108

Title: Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

PubMed ID: 24627108

DOI: 10.1007/s00415-014-7289-8

PubMed ID: 28493438

Title: Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.

PubMed ID: 28493438

DOI: 10.1002/humu.23250

PubMed ID: 35971119

Title: Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation.

PubMed ID: 35971119

DOI: 10.1186/s12883-022-02828-6

PubMed ID: 35911843

Title: Case Report: Early-Onset Charcot-Marie-Tooth 2N With Reversible White Matter Lesions Repeatedly Mimicked Stroke or Encephalitis.

PubMed ID: 35911843

DOI: 10.3389/fped.2022.935721

PubMed ID: 37106376

Title: An AARS1 variant identified to cause adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia.

PubMed ID: 37106376

DOI: 10.1186/s40035-023-00353-1

Sequence Information:

  • Length: 968
  • Mass: 106810
  • Checksum: 8683F111CEE42506
  • Sequence:
    • MDSTLTASEI RQRFIDFFKR NEHTYVHSSA TIPLDDPTLL FANAGMNQFK PIFLNTIDPS 
HPMAKLSRAA NTQKCIRAGG KHNDLDDVGK DVYHHTFFEM LGSWSFGDYF KELACKMALE 
LLTQEFGIPI ERLYVTYFGG DEAAGLEADL ECKQIWQNLG LDDTKILPGN MKDNFWEMGD 
TGPCGPCSEI HYDRIGGRDA AHLVNQDDPN VLEIWNLVFI QYNREADGIL KPLPKKSIDT 
GMGLERLVSV LQNKMSNYDT DLFVPYFEAI QKGTGARPYT GKVGAEDADG IDMAYRVLAD 
HARTITVALA DGGRPDNTGR GYVLRRILRR AVRYAHEKLN ASRGFFATLV DVVVQSLGDA 
FPELKKDPDM VKDIINEEEV QFLKTLSRGR RILDRKIQSL GDSKTIPGDT AWLLYDTYGF 
PVDLTGLIAE EKGLVVDMDG FEEERKLAQL KSQGKGAGGE DLIMLDIYAI EELRARGLEV 
TDDSPKYNYH LDSSGSYVFE NTVATVMALR REKMFVEEVS TGQECGVVLD KTCFYAEQGG 
QIYDEGYLVK VDDSSEDKTE FTVKNAQVRG GYVLHIGTIY GDLKVGDQVW LFIDEPRRRP 
IMSNHTATHI LNFALRSVLG EADQKGSLVA PDRLRFDFTA KGAMSTQQIK KAEEIANEMI 
EAAKAVYTQD CPLAAAKAIQ GLRAVFDETY PDPVRVVSIG VPVSELLDDP SGPAGSLTSV 
EFCGGTHLRN SSHAGAFVIV TEEAIAKGIR RIVAVTGAEA QKALRKAESL KKCLSVMEAK 
VKAQTAPNKD VQREIADLGE ALATAVIPQW QKDELRETLK SLKKVMDDLD RASKADVQKR 
VLEKTKQFID SNPNQPLVIL EMESGASAKA LNEALKLFKM HSPQTSAMLF TVDNEAGKIT 
CLCQVPQNAA NRGLKASEWV QQVSGLMDGK GGGKDVSAQA TGKNVGCLQE ALQLATSFAQ 
LRLGDVKN

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.