Details for: AARS1

Gene ID: 16

Symbol: AARS1

Ensembl ID: ENSG00000090861

Description: alanyl-tRNA synthetase 1

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: dopaminergic neuron (CL0000700)
    Fold Change: 1.51
    Marker Score: 15574
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.5
    Marker Score: 1336
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.44
    Marker Score: 88347
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.42
    Marker Score: 2879
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.39
    Marker Score: 13066
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.37
    Marker Score: 5313.5
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 1.37
    Marker Score: 378
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.37
    Marker Score: 20491
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 1.37
    Marker Score: 18219
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.33
    Marker Score: 49227.5
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.31
    Marker Score: 5158
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.31
    Marker Score: 2018
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.28
    Marker Score: 5286.5
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.27
    Marker Score: 10928
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.26
    Marker Score: 11989
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.23
    Marker Score: 46881.5
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.23
    Marker Score: 1631.5
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.21
    Marker Score: 24056
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.2
    Marker Score: 9175
  • Cell Name: IgA plasmablast (CL0000984)
    Fold Change: 1.17
    Marker Score: 307
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.15
    Marker Score: 5305
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 1.13
    Marker Score: 5563.5
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.11
    Marker Score: 2335
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 1.1
    Marker Score: 1368.5
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.09
    Marker Score: 530
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.06
    Marker Score: 973
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.04
    Marker Score: 1500
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.03
    Marker Score: 430
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71707
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47930.5
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.99
    Marker Score: 1199
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30392
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.97
    Marker Score: 1213
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2399
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.94
    Marker Score: 2145.5
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.94
    Marker Score: 2549
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.93
    Marker Score: 19912
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 479.5
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.93
    Marker Score: 873
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.92
    Marker Score: 328
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 435
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.92
    Marker Score: 538
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.9
    Marker Score: 3111
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2704
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.9
    Marker Score: 3663
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.89
    Marker Score: 948
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.89
    Marker Score: 11963
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.88
    Marker Score: 1418
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.88
    Marker Score: 1563
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5293
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.87
    Marker Score: 276
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.86
    Marker Score: 927
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 309
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.85
    Marker Score: 4854
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.84
    Marker Score: 242
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.83
    Marker Score: 557
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.83
    Marker Score: 553
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.82
    Marker Score: 2229.5
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.81
    Marker Score: 1312
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.81
    Marker Score: 338
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.81
    Marker Score: 220
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.8
    Marker Score: 2136
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.79
    Marker Score: 448
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.78
    Marker Score: 314
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.78
    Marker Score: 943.5
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.78
    Marker Score: 596
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.78
    Marker Score: 1861
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.78
    Marker Score: 807
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.78
    Marker Score: 231
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.77
    Marker Score: 2837
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.77
    Marker Score: 1681
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.75
    Marker Score: 754
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.75
    Marker Score: 3119
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.73
    Marker Score: 363
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 374
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.72
    Marker Score: 969
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.72
    Marker Score: 764
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.72
    Marker Score: 997.5
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.72
    Marker Score: 7216
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.72
    Marker Score: 177
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.72
    Marker Score: 377
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.71
    Marker Score: 414
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.71
    Marker Score: 533
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.7
    Marker Score: 643
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7
    Marker Score: 2954.5
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.7
    Marker Score: 469
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.69
    Marker Score: 470
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.69
    Marker Score: 4507
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.69
    Marker Score: 256
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.68
    Marker Score: 257.5
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.68
    Marker Score: 713
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 173
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.67
    Marker Score: 1215
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.67
    Marker Score: 704
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.66
    Marker Score: 762
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.66
    Marker Score: 1077
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.66
    Marker Score: 448
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.65
    Marker Score: 814
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.65
    Marker Score: 358
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.65
    Marker Score: 190

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Other Information

**Key characteristics:** - AARS1 is a transmembrane protein with a molecular weight of approximately 110 kDa. - It is expressed in high levels in the brain and other organs with high metabolic activity. - AARS1 is a key enzyme in the biosynthesis of several amino acids, including alanine, serine, and threonine. **Pathways and functions:** - AARS1 is involved in the Alanine-trna ligase activity, Alanyl-trna aminoacylation, Amino acid binding, Aminoacyl-trna editing activity, Atp binding, Cerebellar purkinje cell layer development, Cytosolic trna aminoacylation, Metabolism of proteins, Ser-trna(ala) hydrolase activity, Translation, Trna aminoacylation, Trna aminoacylation for protein translation, Trna binding, Trna modification, Trna processing, Zinc ion binding **Clinical significance:** Mutations in AARS1 have been linked to a number of human diseases, including autism, schizophrenia, and developmental disorders. These mutations can lead to the accumulation of abnormal amino acids in the brain, which can disrupt normal cellular function. This can result in a variety of symptoms, including intellectual disability, behavioral problems, and seizures.

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 18 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 6 EPD 1 Ensembl 4 ExpressionAtlas 1 GO 21 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HAMAP-Rule 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 15 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 3 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: 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: 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

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. For the full schema, download it here.