Details for: ASL

Gene ID: 435

Symbol: ASL

Ensembl ID: ENSG00000126522

Description: argininosuccinate 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: 126.2655
    Cell Significance Index: -19.6400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 80.9010
    Cell Significance Index: -20.5200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 48.1443
    Cell Significance Index: -22.7300
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 44.0234
    Cell Significance Index: -22.6500
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 33.7694
    Cell Significance Index: -22.6600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 17.6405
    Cell Significance Index: -21.7500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.3875
    Cell Significance Index: -19.7900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.6107
    Cell Significance Index: -22.1400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.3330
    Cell Significance Index: -16.3800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.7528
    Cell Significance Index: 46.3700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 2.3157
    Cell Significance Index: 50.1700
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.8626
    Cell Significance Index: 27.9100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.7540
    Cell Significance Index: 1583.7400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.6240
    Cell Significance Index: 73.6100
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.5007
    Cell Significance Index: 25.2400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.3623
    Cell Significance Index: 39.2500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.8984
    Cell Significance Index: 62.1300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.7847
    Cell Significance Index: 225.7700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.6659
    Cell Significance Index: 34.5900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.6545
    Cell Significance Index: 83.9000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5503
    Cell Significance Index: 99.2000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5472
    Cell Significance Index: 109.7700
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.5044
    Cell Significance Index: 5.7300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.4796
    Cell Significance Index: 13.0600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4526
    Cell Significance Index: 89.8200
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 0.4491
    Cell Significance Index: 4.5300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4479
    Cell Significance Index: 160.6400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4298
    Cell Significance Index: 20.0400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.4262
    Cell Significance Index: 5.8200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.3964
    Cell Significance Index: 3.6500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.3475
    Cell Significance Index: 11.1300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3378
    Cell Significance Index: 41.5400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3302
    Cell Significance Index: 32.6600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3285
    Cell Significance Index: 19.7200
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.3203
    Cell Significance Index: 7.4000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3056
    Cell Significance Index: 58.1500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2991
    Cell Significance Index: 163.3200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2783
    Cell Significance Index: 13.0800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2710
    Cell Significance Index: 17.4900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.2681
    Cell Significance Index: 9.4200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2676
    Cell Significance Index: 5.7000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2230
    Cell Significance Index: 30.6300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2108
    Cell Significance Index: 15.7100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1812
    Cell Significance Index: 23.4100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.1757
    Cell Significance Index: 5.1600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.1504
    Cell Significance Index: 2.2200
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.1291
    Cell Significance Index: 1.8500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0995
    Cell Significance Index: 1.0300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0865
    Cell Significance Index: 65.5000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0786
    Cell Significance Index: 9.2800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0655
    Cell Significance Index: 5.0300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0317
    Cell Significance Index: 14.0300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0298
    Cell Significance Index: 5.0800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0074
    Cell Significance Index: 5.3900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0006
    Cell Significance Index: 0.3500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0002
    Cell Significance Index: 0.4400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0072
    Cell Significance Index: -13.2300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0094
    Cell Significance Index: -14.5300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0134
    Cell Significance Index: -18.2700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0201
    Cell Significance Index: -2.0500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0202
    Cell Significance Index: -1.0200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0213
    Cell Significance Index: -15.7600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0350
    Cell Significance Index: -19.7500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0394
    Cell Significance Index: -24.5900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0400
    Cell Significance Index: -18.1500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0552
    Cell Significance Index: -1.4800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0563
    Cell Significance Index: -3.1600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0620
    Cell Significance Index: -7.2300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0711
    Cell Significance Index: -10.3400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0831
    Cell Significance Index: -1.7400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0846
    Cell Significance Index: -2.2600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0877
    Cell Significance Index: -10.0500
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.0903
    Cell Significance Index: -1.6000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1010
    Cell Significance Index: -7.1400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1148
    Cell Significance Index: -24.1900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1725
    Cell Significance Index: -13.6600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1910
    Cell Significance Index: -10.0300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2007
    Cell Significance Index: -5.6100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2020
    Cell Significance Index: -3.3800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2037
    Cell Significance Index: -21.2100
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.2249
    Cell Significance Index: -2.7900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2374
    Cell Significance Index: -14.9600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2376
    Cell Significance Index: -10.5100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2501
    Cell Significance Index: -15.3700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2527
    Cell Significance Index: -8.7800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2879
    Cell Significance Index: -7.5700
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.2905
    Cell Significance Index: -2.4400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2954
    Cell Significance Index: -19.8600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.3003
    Cell Significance Index: -5.5500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3071
    Cell Significance Index: -11.6300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3227
    Cell Significance Index: -9.2500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3283
    Cell Significance Index: -20.1300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3623
    Cell Significance Index: -10.6700
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.3892
    Cell Significance Index: -15.9500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4122
    Cell Significance Index: -10.5300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.4731
    Cell Significance Index: -10.3600
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.4906
    Cell Significance Index: -3.7500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.4958
    Cell Significance Index: -5.9100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.5071
    Cell Significance Index: -8.6900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.5094
    Cell Significance Index: -18.7000

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:** ASL is a cytosolic enzyme that catalyzes the hydrolysis of argininosuccinate to arginine and fumarate. This enzyme is a key player in the urea cycle, which is responsible for the disposal of excess nitrogen from amino acid catabolism. Additionally, ASL is involved in the regulation of arginine biosynthesis, which is essential for various cellular processes, including immune response, cell growth, and differentiation. **Pathways and Functions:** ASL is involved in several key metabolic pathways, including: 1. **Urea Cycle:** ASL is a critical enzyme in the urea cycle, which is responsible for the disposal of excess nitrogen from amino acid catabolism. 2. **Arginine Biosynthetic Process:** ASL is involved in the regulation of arginine biosynthesis, which is essential for various cellular processes, including immune response, cell growth, and differentiation. 3. **Nitric Oxide Biosynthetic Process:** ASL is positively regulated by the nitric oxide biosynthetic process, which is essential for immune response and vascular function. 4. **Metabolism of Amino Acids and Derivatives:** ASL is involved in the metabolism of amino acids and derivatives, including arginine, ornithine, and citrulline. **Clinical Significance:** ASL plays a critical role in various immune-related disorders, including: 1. **Urea Cycle Disorders:** Mutations in the ASL gene can lead to urea cycle disorders, such as citrullinemia, which is characterized by elevated levels of citrulline and arginine. 2. **Arginine Deficiency:** ASL deficiency can lead to arginine deficiency, which is associated with impaired immune response and increased susceptibility to infections. 3. **Immune System Dysregulation:** ASL is involved in the regulation of immune response, and dysregulation of ASL can lead to immune system dysregulation, including autoimmune diseases and inflammatory disorders. In conclusion, ASL is a multifunctional enzyme that plays a critical role in regulating immune responses, metabolism, and cell signaling. Further research is needed to fully understand the mechanisms by which ASL regulates these processes and to develop novel therapeutic strategies for the treatment of immune-related disorders. **References:** 1. [Insert references to relevant studies on ASL] 2. [Insert references to relevant reviews on ASL] **Note:** This article is a summary of the gene ASL and its functions, and is not intended to be a comprehensive review of the literature on the topic.

Genular Protein ID: 2650132183

Symbol: ARLY_HUMAN

Name: Arginosuccinase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 3391281

Title: Isolation of cDNA clones of human argininosuccinate lyase and corrected amino acid sequence.

PubMed ID: 3391281

DOI: 10.1016/0014-5793(88)80124-8

PubMed ID: 3463959

Title: Cloning and sequence analysis of cDNA for human argininosuccinate lyase.

PubMed ID: 3463959

DOI: 10.1073/pnas.83.19.7211

PubMed ID: 2644168

Title: cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase.

PubMed ID: 2644168

DOI: 10.1016/0888-7543(89)90314-5

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

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: 3368457

Title: Gene sharing by delta-crystallin and argininosuccinate lyase.

PubMed ID: 3368457

DOI: 10.1073/pnas.85.10.3479

PubMed ID: 11747433

Title: Mechanisms for intragenic complementation at the human argininosuccinate lyase locus.

PubMed ID: 11747433

DOI: 10.1021/bi011526e

PubMed ID: 20167786

Title: Regulation of cellular metabolism by protein lysine acetylation.

PubMed ID: 20167786

DOI: 10.1126/science.1179689

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22081021

Title: Requirement of argininosuccinate lyase for systemic nitric oxide production.

PubMed ID: 22081021

DOI: 10.1038/nm.2544

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: 9256435

Title: Human argininosuccinate lyase: a structural basis for intragenic complementation.

PubMed ID: 9256435

DOI: 10.1073/pnas.94.17.9063

PubMed ID: 11747432

Title: Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R.

PubMed ID: 11747432

DOI: 10.1021/bi011525m

PubMed ID: 2263616

Title: Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.

PubMed ID: 2263616

DOI: 10.1073/pnas.87.24.9625

PubMed ID: 1705937

Title: Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.

PubMed ID: 1705937

DOI: 10.1016/s0021-9258(19)67785-9

PubMed ID: 9045711

Title: Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles.

PubMed ID: 9045711

DOI: 10.1074/jbc.272.10.6777

PubMed ID: 12408190

Title: Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

PubMed ID: 12408190

DOI: 10.1023/a:1020108002877

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 17326097

Title: Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.

PubMed ID: 17326097

DOI: 10.1002/humu.20498

PubMed ID: 19703900

Title: Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.

PubMed ID: 19703900

DOI: 10.1074/jbc.m109.050195

PubMed ID: 24166829

Title: Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.

PubMed ID: 24166829

DOI: 10.1002/humu.22469

Sequence Information:

  • Length: 464
  • Mass: 51658
  • Checksum: F751625C1A581883
  • Sequence:
  • MASESGKLWG GRFVGAVDPI MEKFNASIAY DRHLWEVDVQ GSKAYSRGLE KAGLLTKAEM 
    DQILHGLDKV AEEWAQGTFK LNSNDEDIHT ANERRLKELI GATAGKLHTG RSRNDQVVTD 
    LRLWMRQTCS TLSGLLWELI RTMVDRAEAE RDVLFPGYTH LQRAQPIRWS HWILSHAVAL 
    TRDSERLLEV RKRINVLPLG SGAIAGNPLG VDRELLRAEL NFGAITLNSM DATSERDFVA 
    EFLFWASLCM THLSRMAEDL ILYCTKEFSF VQLSDAYSTG SSLMPQKKNP DSLELIRSKA 
    GRVFGRCAGL LMTLKGLPST YNKDLQEDKE AVFEVSDTMS AVLQVATGVI STLQIHQENM 
    GQALSPDMLA TDLAYYLVRK GMPFRQAHEA SGKAVFMAET KGVALNQLSL QELQTISPLF 
    SGDVICVWDY GHSVEQYGAL GGTARSSVDW QIRQVRALLQ AQQA

Genular Protein ID: 2102925363

Symbol: A0A0S2Z316_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 438
  • Mass: 48733
  • Checksum: C05AA06470444AA4
  • Sequence:
  • MASESGKLWG GRFVGAVDPI MEKFNASIAY DRHLWEVDVQ GSKAYSRGLE KAGLLTKAEM 
    DQILHGLDKV AEEWAQGTFK LNSNDEDIHT ANERRLKELI GATAGKLHTG RSRNDQVVTD 
    LRLWMRQTCS TLSGLLWELI RTMVDRAEAE RDVLFPGYTH LQRAQPIRWS HWILSGAIAG 
    NPLGVDRELL RAELNFGAIT LNSMDATSER DFVAEFLFWA SLCMTHLSRM AEDLILYCTK 
    EFSFVQLSDA YSTGSSLMPQ KKNPDSLELI RSKAGRVFGR CAGLLMTLKG LPSTYNKDLQ 
    EDKEAVFEVS DTMSAVLQVA TGVISTLQIH QENMGQALSP DMLATDLAYY LVRKGMPFRQ 
    AHEASGKAVF MAETKGVALN QLSLQELQTI SPLFSGDVIC VWDYGHSVEQ YGALGGTARS 
    SVDWQIRQVR ALLQAQQA

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.