Details for: ADSL

Gene ID: 158

Symbol: ADSL

Ensembl ID: ENSG00000239900

Description: adenylosuccinate lyase

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: 97.0136
    Cell Significance Index: -15.0900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 68.9551
    Cell Significance Index: -17.4900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 60.4082
    Cell Significance Index: -24.8900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 57.4759
    Cell Significance Index: -23.3500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 54.7739
    Cell Significance Index: -25.8600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 51.3623
    Cell Significance Index: -26.4200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 38.5978
    Cell Significance Index: -25.9000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 24.8077
    Cell Significance Index: -23.6900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 17.8514
    Cell Significance Index: -22.0100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.3240
    Cell Significance Index: -19.6200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.9452
    Cell Significance Index: -23.4600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.1270
    Cell Significance Index: -15.7500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 2.2384
    Cell Significance Index: 65.7400
  • Cell Name: germ cell (CL0000586)
    Fold Change: 2.1713
    Cell Significance Index: 16.4000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 1.6962
    Cell Significance Index: 18.4400
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.6946
    Cell Significance Index: 13.5300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.5136
    Cell Significance Index: 90.8700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.1379
    Cell Significance Index: 39.5400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.0267
    Cell Significance Index: 111.6700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.9518
    Cell Significance Index: 25.5100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.8988
    Cell Significance Index: 104.7500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8284
    Cell Significance Index: 747.9500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.7750
    Cell Significance Index: 91.4000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.7057
    Cell Significance Index: 96.9100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.6728
    Cell Significance Index: 17.6900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6471
    Cell Significance Index: 105.2400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.5895
    Cell Significance Index: 12.3400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5791
    Cell Significance Index: 316.2700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5622
    Cell Significance Index: 112.7800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5126
    Cell Significance Index: 35.4500
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.4728
    Cell Significance Index: 6.0600
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.3917
    Cell Significance Index: 9.0500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3591
    Cell Significance Index: 64.7400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3408
    Cell Significance Index: 41.9100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2774
    Cell Significance Index: 35.5600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2423
    Cell Significance Index: 86.9200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1879
    Cell Significance Index: 129.9600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1727
    Cell Significance Index: 4.9800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1459
    Cell Significance Index: 27.7600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1360
    Cell Significance Index: 60.1400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1095
    Cell Significance Index: 8.4000
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0976
    Cell Significance Index: 1.0100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0964
    Cell Significance Index: 4.5300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0957
    Cell Significance Index: 12.3700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0892
    Cell Significance Index: 4.1600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0882
    Cell Significance Index: 1.9100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0703
    Cell Significance Index: 6.9500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0504
    Cell Significance Index: 2.8300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0472
    Cell Significance Index: 3.3400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0381
    Cell Significance Index: 2.4000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0215
    Cell Significance Index: 0.3600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0171
    Cell Significance Index: 0.6000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0071
    Cell Significance Index: 0.1900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0070
    Cell Significance Index: 5.3200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0056
    Cell Significance Index: 0.1500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0042
    Cell Significance Index: -0.7200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0105
    Cell Significance Index: -0.3100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0118
    Cell Significance Index: -22.2100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0143
    Cell Significance Index: -26.4100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0149
    Cell Significance Index: -0.3800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0165
    Cell Significance Index: -25.3400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0175
    Cell Significance Index: -1.7900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0192
    Cell Significance Index: -26.0600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0251
    Cell Significance Index: -18.5700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0282
    Cell Significance Index: -20.6600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0395
    Cell Significance Index: -25.0900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0395
    Cell Significance Index: -22.2800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0426
    Cell Significance Index: -1.1900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0431
    Cell Significance Index: -26.9200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0559
    Cell Significance Index: -25.3900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0636
    Cell Significance Index: -18.3100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0662
    Cell Significance Index: -1.4500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0805
    Cell Significance Index: -3.6500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1008
    Cell Significance Index: -6.5000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1037
    Cell Significance Index: -7.7300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1147
    Cell Significance Index: -22.7600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1244
    Cell Significance Index: -26.2000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1373
    Cell Significance Index: -15.7300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1374
    Cell Significance Index: -7.1400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1444
    Cell Significance Index: -7.5800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1616
    Cell Significance Index: -7.1500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1632
    Cell Significance Index: -8.5000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1653
    Cell Significance Index: -10.1600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1681
    Cell Significance Index: -3.5800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1734
    Cell Significance Index: -25.2000
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.1842
    Cell Significance Index: -3.4100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1947
    Cell Significance Index: -9.8400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2030
    Cell Significance Index: -5.8200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2078
    Cell Significance Index: -7.8700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2265
    Cell Significance Index: -23.5800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2423
    Cell Significance Index: -7.7600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2539
    Cell Significance Index: -6.9100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2578
    Cell Significance Index: -6.4500
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.2624
    Cell Significance Index: -3.6800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3155
    Cell Significance Index: -24.9900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3691
    Cell Significance Index: -4.4000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3736
    Cell Significance Index: -5.6300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3885
    Cell Significance Index: -26.1200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.4175
    Cell Significance Index: -3.8500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4195
    Cell Significance Index: -25.7200

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. **Enzymatic Activity:** ADSL exhibits two distinct enzymatic activities, namely, the conversion of adenylosuccinate to AMP (fumarate-forming) and the hydrolysis of N6-(1,2-dicarboxyethyl)AMP to AMP. 2. **Subcellular Localization:** ADSL is predominantly found in the cytosol, suggesting its role in regulating nucleotide biosynthesis and energy metabolism within this compartment. 3. **Expression Profile:** ADSL is significantly expressed in various cell types, including erythroid progenitor cells, T cells, oocytes, and placental villous trophoblasts, indicating its importance in different cellular contexts. 4. **Protein Interactions:** ADSL interacts with other proteins, such as PUR8, to facilitate its enzymatic activity and regulate nucleotide biosynthesis. **Pathways and Functions:** 1. **De Novo Amp Biosynthetic Process:** ADSL catalyzes the conversion of adenylosuccinate to AMP, a critical step in the de novo biosynthesis of adenine nucleotides. 2. **De Novo Imp Biosynthetic Process:** ADSL also participates in the de novo biosynthesis of inosine monophosphate (IMP), a precursor to guanosine nucleotides. 3. **Aerobic Respiration:** ADSL's enzymatic activity contributes to the regulation of energy metabolism during aerobic respiration, ensuring the proper balance of nucleotides and energy production. 4. **Nucleotide Biosynthesis:** ADSL plays a central role in the salvage pathway of nucleotide biosynthesis, where it hydrolyzes N6-(1,2-dicarboxyethyl)AMP to AMP. 5. **Response to Hypoxia and Starvation:** ADSL's expression and activity are modulated in response to hypoxia and starvation, highlighting its role in regulating energy metabolism and nucleotide biosynthesis under stress conditions. **Clinical Significance:** 1. **Implications for Nucleotide Metabolism Disorders:** Dysregulation of ADSL activity has been linked to various nucleotide metabolism disorders, such as adenylosuccinate lyase deficiency, which affects the production of adenine nucleotides. 2. **Cancer and Immune System:** ADSL's expression and activity in T cells and other immune cells suggest its potential role in cancer and immune system regulation. 3. **Relevance to Neurological Disorders:** ADSL's involvement in nucleotide biosynthesis and energy metabolism makes it a potential target for therapeutic interventions in neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, adenylosuccinate lyase is a critical enzyme in nucleotide biosynthesis and metabolic pathways, playing a pivotal role in regulating energy production and cellular homeostasis. Further research on ADSL's functions and dysregulation in disease contexts will provide valuable insights into its clinical significance and potential therapeutic applications.

Genular Protein ID: 2820138176

Symbol: PUR8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8404037

Title: Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1-->q13.2.

PubMed ID: 8404037

DOI: 10.1159/000133575

PubMed ID: 10888601

Title: Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.

PubMed ID: 10888601

DOI: 10.1093/hmg/9.10.1501

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

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: 1302001

Title: A mutation in adenylosuccinate lyase associated with mental retardation and autistic features.

PubMed ID: 1302001

DOI: 10.1038/ng0492-59

PubMed ID: 16973378

Title: Expression, purification, and characterization of stable, recombinant human adenylosuccinate lyase.

PubMed ID: 16973378

DOI: 10.1016/j.pep.2006.07.023

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: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

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: 25114211

Title: Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.

PubMed ID: 25114211

DOI: 10.1073/pnas.1413825111

PubMed ID: 22812634

Title: Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation.

PubMed ID: 22812634

DOI: 10.1021/bi300796y

PubMed ID: 9266401

Title: Adenylosuccinase deficiency presenting with epilepsy in early infancy.

PubMed ID: 9266401

DOI: 10.1023/a:1005323512982

PubMed ID: 9545543

Title: Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells.

PubMed ID: 9545543

DOI: 10.1016/s0925-4439(97)00086-0

PubMed ID: 10090474

Title: Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.

PubMed ID: 10090474

DOI: 10.1002/(sici)1098-1004(1999)13:3<197::aid-humu3>3.0.co;2-d

PubMed ID: 10958654

Title: Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.

PubMed ID: 10958654

DOI: 10.1093/hmg/9.14.2159

PubMed ID: 12016589

Title: Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency.

PubMed ID: 12016589

DOI: 10.1086/341036

PubMed ID: 12070256

Title: Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?

PubMed ID: 12070256

DOI: 10.1136/jmg.39.6.440

PubMed ID: 12368987

Title: Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.

PubMed ID: 12368987

DOI: 10.1055/s-2002-34493

PubMed ID: 12833398

Title: Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.

PubMed ID: 12833398

DOI: 10.1002/ajmg.a.20176

PubMed ID: 16839792

Title: Adenylosuccinate lyase deficiency.

PubMed ID: 16839792

DOI: 10.1016/j.ymgme.2006.04.018

PubMed ID: 19405474

Title: Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.

PubMed ID: 19405474

DOI: 10.1021/bi802321m

Sequence Information:

  • Length: 484
  • Mass: 54889
  • Checksum: 7AA3A0A2C681FD94
  • Sequence:
  • MAAGGDHGSP DSYRSPLASR YASPEMCFVF SDRYKFRTWR QLWLWLAEAE QTLGLPITDE 
    QIQEMKSNLE NIDFKMAAEE EKRLRHDVMA HVHTFGHCCP KAAGIIHLGA TSCYVGDNTD 
    LIILRNALDL LLPKLARVIS RLADFAKERA SLPTLGFTHF QPAQLTTVGK RCCLWIQDLC 
    MDLQNLKRVR DDLRFRGVKG TTGTQASFLQ LFEGDDHKVE QLDKMVTEKA GFKRAFIITG 
    QTYTRKVDIE VLSVLASLGA SVHKICTDIR LLANLKEMEE PFEKQQIGSS AMPYKRNPMR 
    SERCCSLARH LMTLVMDPLQ TASVQWFERT LDDSANRRIC LAEAFLTADT ILNTLQNISE 
    GLVVYPKVIE RRIRQELPFM ATENIIMAMV KAGGSRQDCH EKIRVLSQQA ASVVKQEGGD 
    NDLIERIQVD AYFSPIHSQL DHLLDPSSFT GRASQQVQRF LEEEVYPLLK PYESVMKVKA 
    ELCL

Genular Protein ID: 1253245662

Symbol: X5D7W4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 24722188

Title: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.

PubMed ID: 24722188

Sequence Information:

  • Length: 46
  • Mass: 5193
  • Checksum: 66ACB1E1AB65000B
  • Sequence:
  • MAAGGDHGSP DSYRSPLASR YASPEMCFVF SDRHWVCLSQ MNKSRR

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.