Details for: ASL

Gene ID: 435

Symbol: ASL

Ensembl ID: ENSG00000126522

Description: argininosuccinate 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: enterocyte (CL0000584)
    Fold Change: 2.12
    Marker Score: 10190
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.98
    Marker Score: 10652
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.94
    Marker Score: 6088
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.85
    Marker Score: 3914
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.63
    Marker Score: 2615.5
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.59
    Marker Score: 6870
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.58
    Marker Score: 2429
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.56
    Marker Score: 3704
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.52
    Marker Score: 9677
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.5
    Marker Score: 9669
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.43
    Marker Score: 12421
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.35
    Marker Score: 335
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.34
    Marker Score: 1072
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.27
    Marker Score: 1214
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.22
    Marker Score: 2322
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1.22
    Marker Score: 1940
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.21
    Marker Score: 1208
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.21
    Marker Score: 455.5
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.21
    Marker Score: 4291
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.19
    Marker Score: 995
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.18
    Marker Score: 7691
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.14
    Marker Score: 3735
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.12
    Marker Score: 1030
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.11
    Marker Score: 17342
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.11
    Marker Score: 2513
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.11
    Marker Score: 756
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.09
    Marker Score: 455
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 1.07
    Marker Score: 507
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.06
    Marker Score: 521
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.05
    Marker Score: 1748
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.05
    Marker Score: 9020
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1
    Marker Score: 2531
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71688
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1
    Marker Score: 1467
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47912
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.98
    Marker Score: 1103
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30388
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.96
    Marker Score: 233
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2398
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.93
    Marker Score: 987
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.93
    Marker Score: 942
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 478
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5235
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 433
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 0.92
    Marker Score: 2531
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.91
    Marker Score: 1485
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.91
    Marker Score: 262
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2727
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.91
    Marker Score: 8548
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.9
    Marker Score: 851
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.89
    Marker Score: 3444.5
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.89
    Marker Score: 332
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.89
    Marker Score: 32671
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.88
    Marker Score: 2009
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.88
    Marker Score: 1531
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.86
    Marker Score: 53007
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.86
    Marker Score: 515
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.85
    Marker Score: 908
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.85
    Marker Score: 575
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.85
    Marker Score: 315
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.84
    Marker Score: 1986
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.84
    Marker Score: 1299
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.84
    Marker Score: 282
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.84
    Marker Score: 8644
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.84
    Marker Score: 1182
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.81
    Marker Score: 445
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.81
    Marker Score: 6939
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.81
    Marker Score: 3284
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.8
    Marker Score: 2153
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.79
    Marker Score: 433
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.78
    Marker Score: 2689
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.78
    Marker Score: 596
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.77
    Marker Score: 29317.5
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.77
    Marker Score: 209
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 303
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.75
    Marker Score: 14868
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.75
    Marker Score: 519
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.75
    Marker Score: 7086
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.74
    Marker Score: 982
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.74
    Marker Score: 471
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 0.73
    Marker Score: 661
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.73
    Marker Score: 305
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.73
    Marker Score: 210
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.73
    Marker Score: 755
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.72
    Marker Score: 273
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.72
    Marker Score: 232
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.72
    Marker Score: 343
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 373
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.71
    Marker Score: 205
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2981
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.7
    Marker Score: 363
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.7
    Marker Score: 1421
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.7
    Marker Score: 739
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.69
    Marker Score: 335
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.69
    Marker Score: 1871
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.69
    Marker Score: 4390
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.68
    Marker Score: 341

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Other Information

**Key characteristics:** - The gene is located on chromosome 15q26.1. - It is a single-exon gene with a size of approximately 2.4 kb. - The protein encoded by the ASL gene is a transmembrane protein with a molecular weight of approximately 160 kDa. **Pathways and functions:** - The ASL gene is involved in several metabolic pathways, including the ammonia assimilation cycle, the arginine biosynthetic process, the arginine metabolic process, and the cytoplasm. - It is also involved in the regulation of nitric oxide biosynthetic process, post-embryonic development, and protein binding. **Clinical significance:** - Mutations in the ASL gene have been linked to several human diseases, including hepatocellular carcinoma, colon cancer, and heart failure. - Studies of the role of the ASL gene in these diseases are ongoing, and potential therapeutic interventions targeting it are under investigation. **Additional notes:** - The ASL gene is also known as ARLY_HUMAN. - It is a highly conserved gene, with a similar gene found in other mammals. - The expression of the ASL gene is regulated by various factors, including growth factors, cytokines, and hormones.

Genular Protein ID: 2650132183

Symbol: ARLY_HUMAN

Name: Arginosuccinase

UniProtKB Accession Codes:

P04424 E7EMI0 E9PE48 Q6LDS5 Q96HS2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 ChEBI 10 ChiTaRS 1 DNASU 1 DisGeNET 1 DrugBank 3 EC 1 EMBL 10 EPD 1 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 13 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 2 PIR 1 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 3 Pumba 1 RNAct 1 Reactome 1 RefSeq 3 Rhea 3 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 2 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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:

A0A0S2Z316

Database IDs:

ARBA 6 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 3 ChiTaRS 1 DNASU 1 EC 1 EMBL 2 ExpressionAtlas 1 GO 3 Gene3D 3 GenomeRNAi 1 HAMAP 1 InterPro 7 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 1 Pfam 4 RefSeq 1 Rhea 3 SMR 1 SUPFAM 1 UniPathway 2 VEuPathDB 1

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. For the full schema, download it here.