Details for: ADSL

Gene ID: 158

Symbol: ADSL

Ensembl ID: ENSG00000239900

Description: adenylosuccinate lyase

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: erythroid progenitor cell (CL0000038)
    Fold Change: 2.73
    Marker Score: 2843
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.73
    Marker Score: 11048
  • Cell Name: oocyte (CL0000023)
    Fold Change: 1.63
    Marker Score: 402
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.62
    Marker Score: 2334
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.62
    Marker Score: 467
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.61
    Marker Score: 1138
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.59
    Marker Score: 1080
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.53
    Marker Score: 6246
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.52
    Marker Score: 5982
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 1.51
    Marker Score: 2134
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.46
    Marker Score: 1826
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 1.44
    Marker Score: 1040
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.43
    Marker Score: 1531
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.43
    Marker Score: 1517
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.41
    Marker Score: 939
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.4
    Marker Score: 1047
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.37
    Marker Score: 439
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.36
    Marker Score: 3691
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 1.33
    Marker Score: 466
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.32
    Marker Score: 1213
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.28
    Marker Score: 2169
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.27
    Marker Score: 1682
  • Cell Name: Unknown (CL0000548)
    Fold Change: 1.22
    Marker Score: 892
  • Cell Name: neural cell (CL0002319)
    Fold Change: 1.21
    Marker Score: 583
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.21
    Marker Score: 14034
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 1.2
    Marker Score: 5157
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.2
    Marker Score: 2503
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.2
    Marker Score: 1204
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.19
    Marker Score: 1333
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.16
    Marker Score: 1254
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 1.16
    Marker Score: 2274
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.14
    Marker Score: 3378
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.13
    Marker Score: 562
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.09
    Marker Score: 7101
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.09
    Marker Score: 2564
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.08
    Marker Score: 4677
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 1.08
    Marker Score: 790
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 1.08
    Marker Score: 6553.5
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 1.04
    Marker Score: 385
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 1.04
    Marker Score: 1865
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.04
    Marker Score: 244
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.04
    Marker Score: 1809
  • Cell Name: T follicular helper cell (CL0002038)
    Fold Change: 1.03
    Marker Score: 858
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 1.03
    Marker Score: 2508
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.03
    Marker Score: 1087.5
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.02
    Marker Score: 559
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.01
    Marker Score: 285
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 1
    Marker Score: 53007
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1
    Marker Score: 629
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 1
    Marker Score: 328
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71681
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47904
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30390
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.98
    Marker Score: 9835.5
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 0.97
    Marker Score: 9635
  • Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
    Fold Change: 0.97
    Marker Score: 703
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.97
    Marker Score: 2636
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.96
    Marker Score: 12675
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.95
    Marker Score: 14813
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.94
    Marker Score: 1546.5
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2394
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 485
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 440
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.93
    Marker Score: 32114
  • Cell Name: centrocyte (CL0009111)
    Fold Change: 0.92
    Marker Score: 220
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.92
    Marker Score: 864
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2693
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.9
    Marker Score: 301
  • Cell Name: cord blood hematopoietic stem cell (CL2000095)
    Fold Change: 0.89
    Marker Score: 673
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.89
    Marker Score: 491
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.89
    Marker Score: 3282
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.88
    Marker Score: 469
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5018
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.88
    Marker Score: 2082
  • Cell Name: double negative T regulatory cell (CL0011024)
    Fold Change: 0.87
    Marker Score: 842
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 313
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.87
    Marker Score: 456
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.86
    Marker Score: 5225
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.86
    Marker Score: 426
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.86
    Marker Score: 611.5
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.86
    Marker Score: 9669
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 0.85
    Marker Score: 1661
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.85
    Marker Score: 8048
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.84
    Marker Score: 859
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.84
    Marker Score: 880
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.84
    Marker Score: 8666
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: 0.84
    Marker Score: 1438
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.83
    Marker Score: 51285
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.83
    Marker Score: 1743
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.82
    Marker Score: 21090
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.82
    Marker Score: 329
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.82
    Marker Score: 165
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.81
    Marker Score: 399
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.81
    Marker Score: 507
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 0.8
    Marker Score: 257
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.8
    Marker Score: 1238
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.8
    Marker Score: 608.5
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.79
    Marker Score: 794
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.79
    Marker Score: 6778
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.78
    Marker Score: 1944

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Other Information

**Key characteristics:** * ADSL is a protein with a molecular weight of approximately 130 kDa. * It is localized to the nucleus and cytoplasm. * It is a bifunctional enzyme that can act as a de novo amp lyase or a de novo imp lyase. * It is involved in the metabolism of nucleotides, purine nucleotide biosynthesis, and response to hypoxia. **Pathways and functions:** * The ADSL gene is involved in the de novo biosynthesis of fumarate, which is a key intermediate in the citric acid cycle. * Fumarate can be used by the mitochondria for energy production through aerobic respiration. * It is also involved in the salvage of AMP and GMP by converting them to their corresponding nucleotides. * ADSL is also involved in the purine nucleotide biosynthetic process and response to hypoxia. **Clinical significance:** * Mutations in the ADSL gene have been linked to certain human diseases, including cancer and developmental disorders. * Overexpression of ADSL has been associated with certain cancers, such as lung cancer and breast cancer. * ADSL inhibitors are being investigated as potential cancer therapies.

Genular Protein ID: 2820138176

Symbol: PUR8_HUMAN

Name: N/A

UniProtKB Accession Codes:

P30566 B0QY76 O75495 Q5TI34

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 6 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 2 EMBL 9 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 17 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 4 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 3 Rhea 2 SABIO-RK 1 SASBDB 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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:

X5D7W4

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 GO 1 Gene3D 1 GenomeRNAi 1 IntAct 1 InterPro 1 NCBI Taxonomy 1 OrthoDB 1 PeptideAtlas 1 RefSeq 1

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. For the full schema, download it here.