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: skeletal muscle satellite stem cell (CL0008011)
    CSI Score: 13.2
  • Cell Name: conjunctival epithelial cell (CL1000432)
    CSI Score: 6.5
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    CSI Score: 5.9
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    CSI Score: 4.5
  • Cell Name: GABAergic neuron (CL0000617)
    CSI Score: 4.0
  • Cell Name: glutamatergic neuron (CL0000679)
    CSI Score: 3.7
  • Cell Name: retinal ganglion cell (CL0000740)
    CSI Score: 3.3
  • Cell Name: oligodendrocyte (CL0000128)
    CSI Score: 3.3
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    CSI Score: 3.2
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    CSI Score: 3.2
  • Cell Name: placental villous trophoblast (CL2000060)
    CSI Score: 3.1
  • Cell Name: malignant cell (CL0001064)
    CSI Score: 3.1
  • Cell Name: epithelial cell (CL0000066)
    CSI Score: 3.0
  • Cell Name: pancreatic acinar cell (CL0002064)
    CSI Score: 3.0
  • Cell Name: corneal epithelial cell (CL0000575)
    CSI Score: 3.0
  • Cell Name: exhausted T cell (CL0011025)
    CSI Score: 3.0
  • Cell Name: goblet cell (CL0000160)
    CSI Score: 2.8
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    CSI Score: 2.8
  • Cell Name: basal cell (CL0000646)
    CSI Score: 2.7
  • Cell Name: retinal rod cell (CL0000604)
    CSI Score: 2.7
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    CSI Score: 2.6
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    CSI Score: 2.6
  • Cell Name: stratified epithelial cell (CL0000079)
    CSI Score: 2.5
  • Cell Name: hepatocyte (CL0000182)
    CSI Score: 2.5
  • Cell Name: glial cell (CL0000125)
    CSI Score: 2.5
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    CSI Score: 2.5
  • Cell Name: myeloid leukocyte (CL0000766)
    CSI Score: 2.4
  • Cell Name: lung ciliated cell (CL1000271)
    CSI Score: 2.4
  • Cell Name: peripheral nervous system neuron (CL2000032)
    CSI Score: 2.4
  • Cell Name: enterocyte (CL0000584)
    CSI Score: 2.4
  • Cell Name: mesenchymal stem cell (CL0000134)
    CSI Score: 2.3
  • Cell Name: ON-bipolar cell (CL0000749)
    CSI Score: 2.3
  • Cell Name: mesodermal cell (CL0000222)
    CSI Score: 2.2
  • Cell Name: neuron (CL0000540)
    CSI Score: 2.1
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    CSI Score: 2.1
  • Cell Name: OFF-bipolar cell (CL0000750)
    CSI Score: 2.1
  • Cell Name: melanocyte (CL0000148)
    CSI Score: 2.1
  • Cell Name: glioblast (CL0000030)
    CSI Score: 2.1
  • Cell Name: obsolete animal cell (CL0000548)
    CSI Score: 2.1
  • Cell Name: retinal bipolar neuron (CL0000748)
    CSI Score: 2.0
  • Cell Name: alveolar macrophage (CL0000583)
    CSI Score: 2.0
  • Cell Name: Mueller cell (CL0000636)
    CSI Score: 2.0
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    CSI Score: 2.0
  • Cell Name: mesenchymal cell (CL0008019)
    CSI Score: 2.0
  • Cell Name: astrocyte (CL0000127)
    CSI Score: 1.9
  • Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
    CSI Score: 1.9
  • Cell Name: mature alpha-beta T cell (CL0000791)
    CSI Score: 1.8
  • Cell Name: pulmonary alveolar type 2 cell (CL0002063)
    CSI Score: 1.8
  • Cell Name: secretory cell (CL0000151)
    CSI Score: 1.8
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    CSI Score: 1.8
  • Cell Name: cardiac endothelial cell (CL0010008)
    CSI Score: 1.8
  • Cell Name: myofibroblast cell (CL0000186)
    CSI Score: 1.8
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    CSI Score: 1.7
  • Cell Name: inhibitory interneuron (CL0000498)
    CSI Score: 1.7
  • Cell Name: myeloid cell (CL0000763)
    CSI Score: 1.7
  • Cell Name: extravillous trophoblast (CL0008036)
    CSI Score: 1.7
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    CSI Score: 1.6
  • Cell Name: cardiac muscle cell (CL0000746)
    CSI Score: 1.6
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    CSI Score: 1.6
  • Cell Name: ciliated cell (CL0000064)
    CSI Score: 1.5
  • Cell Name: muscle cell (CL0000187)
    CSI Score: 1.5
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    CSI Score: 1.5
  • Cell Name: CD4-positive, alpha-beta T cell (CL0000624)
    CSI Score: 1.5
  • Cell Name: intestinal epithelial cell (CL0002563)
    CSI Score: 1.4
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    CSI Score: 1.4
  • Cell Name: mononuclear phagocyte (CL0000113)
    CSI Score: 1.4
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    CSI Score: 1.3
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    CSI Score: 1.3
  • Cell Name: macrophage (CL0000235)
    CSI Score: 1.2
  • Cell Name: naive B cell (CL0000788)
    CSI Score: 1.2
  • Cell Name: blood vessel endothelial cell (CL0000071)
    CSI Score: 1.1
  • Cell Name: enteric smooth muscle cell (CL0002504)
    CSI Score: 1.1
  • Cell Name: renal principal cell (CL0005009)
    CSI Score: 1.1
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    CSI Score: 1.1
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    CSI Score: 1.1
  • Cell Name: neural progenitor cell (CL0011020)
    CSI Score: 1.1
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    CSI Score: 1.1
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    CSI Score: 1.1
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    CSI Score: 1.0
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    CSI Score: 1.0
  • Cell Name: ciliated epithelial cell (CL0000067)
    CSI Score: 1.0
  • Cell Name: endothelial cell (CL0000115)
    CSI Score: 1.0
  • Cell Name: forebrain radial glial cell (CL0013000)
    CSI Score: 1.0
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    CSI Score: 0.9
  • Cell Name: squamous epithelial cell (CL0000076)
    CSI Score: 0.9
  • Cell Name: paneth cell (CL0000510)
    CSI Score: 0.9
  • Cell Name: central memory CD4-positive, alpha-beta T cell (CL0000904)
    CSI Score: 0.9
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    CSI Score: 0.9
  • Cell Name: retina horizontal cell (CL0000745)
    CSI Score: 0.9
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    CSI Score: 0.8
  • Cell Name: stem cell (CL0000034)
    CSI Score: 0.8
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    CSI Score: 0.8
  • Cell Name: microglial cell (CL0000129)
    CSI Score: 0.8
  • Cell Name: radial glial cell (CL0000681)
    CSI Score: 0.8
  • Cell Name: mature NK T cell (CL0000814)
    CSI Score: 0.8
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    CSI Score: 0.7
  • Cell Name: capillary endothelial cell (CL0002144)
    CSI Score: 0.7
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    CSI Score: 0.7
  • Cell Name: memory B cell (CL0000787)
    CSI Score: 0.7
  • Cell Name: duct epithelial cell (CL0000068)
    CSI Score: 0.7

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:

Database IDs:

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.