ASL Gene
protein-coding GIFtS: 64
GCID: GC07P065540
|
|
argininosuccinate lyase
| |
Aliases for ASL gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Argininosuccinate Lyase1 2 | | ASAL2 3 | | EC 4.3.2.13 8 | | Argininosuccinase1 | | Arginosuccinase3 | | Arginosuccinase3 |
Export aliases for ASL gene to outside databasesPrevious GC identifers: GC07P064180 GC07P064938 GC07P064952 GC07P064984 GC07P065178 GC07P061727 |
Summaries for ASL gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for ASL: This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarilycatalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in theliver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorderargininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located onthe long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have beendescribed. (provided by RefSeq, Jul 2008)
|
Genomic Views for ASL gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007933.15 NT_079593.2
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ASL gene promoter: AML1a COMP1 FOXO4 Lmo2 Olf-1 Other transcription factors
Search SABiosciences Chromatin IP Primers for ASL
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASL |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7q11.21 Ensembl cytogenetic band: 7q11.21 HGNC cytogenetic band: 7q11.21ASL Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07P065540: view genomic region
(about GC identifiers)
Start:
|
65,540,776 bp from pter |
End:
|
65,558,545 bp from pter |
Size:
|
17,770 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr7+,CRA_TCAG 64,878,281-64,895,827 |
|
Proteins for ASL gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: ARLY_HUMAN, P04424 (See
protein sequence)Recommended Name: Argininosuccinate lyase Size: 464 amino acids; 51658 Da
Subunit: Homotetramer
Sequence caution: Sequence=AAA51786.1; Type=Frameshift; Positions=387, 452;
2 PDB 3D structures from and Proteopedia for ASL:1AOS (3D)
  1K62 (3D)
 
Secondary accessions: Q6LDS5 Q96HS2Explore the universe of human proteins at neXtProt for ASL: NX_P04424
Post-translational modifications:
Acetylation modifies enzyme activity in response to alterations of extracellular nutrient availability. Acetylationincreased with trichostin A (TSA) or with nicotinamide (NAM). Glucose increases acetylation by about a factor of 3with decreasing enzyme activity. Acetylation on Lys-288 is decreased on the addition of extra amino acids resulting inactivation of enzyme activity1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P04424 4/22 DME Specific Peptides for ASL (P04424) (see all 22)
ASL Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_000039.2 NP_001020114.1 NP_001020115.1 NP_001020117.1 ENSEMBL proteins: ENSP00000307188 ENSP00000370219 ENSP00000378741 ENSP00000354710 ENSP00000378740 Reactome Protein details: P04424 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
ASL for ontologies About GeneDecksing
ASL Antibody Products: Assay Products for ASL: |
Protein
Domains / Families for ASL gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ASL for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry P04424ProtoNet protein and cluster: P04424 3 Blocks protein families: IPB000362 Fumarate lyase IPB003031 Delta crystallin signature IPB009049 Argininosuccinate lyase
UniProtKB/Swiss-Prot: ARLY_HUMAN, P04424Similarity: Belongs to the lyase 1 family. Argininosuccinate lyase subfamily |
Function for ASL gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: ARLY_HUMAN, P04424Catalytic activity: 2-(N(omega)-L-arginino)succinate = fumarate + L-arginineEnzyme regulation: Enzyme activity is regulated by acetylation (By similarity) Genatlas biochemistry entry for ASL:argininosuccinate lyase,cytosolic,urea cycle Enzyme Number (IUBMB): EC 4.3.2.11 2
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ASL (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ASL (see all 4) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ASL (NM_000639) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ASL | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASL  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASL |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004056 | argininosuccinate lyase activity |
EXP | -- |
ASL for ontologies About GeneDecksing
Animal Models: Mouse knock-out Asltm1Wjc for ASL 11 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Asl):
ASL for phenotypes About GeneDecksing
|
Pathways & Interactions for ASL gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | glutamate degradation X | | | 2 | Metabolism | | | 3 | Arginine and proline metabolism | | | 4 | superpathway of citrulline metabolism | | | 5 | Metabolism of amino acids and derivatives | |
Pathway sources See GeneCards unified pathways Show all pathways
5/6 BioSystems Pathways for ASL (see all 6) 
3
Reactome Pathways for ASL
3
Kegg Pathways (Kegg details for ASL): UniProtKB/Swiss-Prot: ARLY_HUMAN, P04424Pathway: Amino-acid biosynthesis; L-arginine biosynthesis; L-arginine from L-ornithine and carbamoyl phosphate: step3/3Pathway: Nitrogen metabolism; urea cycle; L-arginine and fumarate from (N(omega)-L-arginino)succinate: step 1/1
ASL for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ASL
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/100 Interacting proteins for ASL (P044243 ENSP000003071884) via UniProtKB, MINT, STRING, and/or I2D (see all 100) About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000050 | urea cycle |
TAS | -- | | GO:0006475 | internal protein amino acid acetylation |
IDA | -- | | GO:0006527 | arginine catabolic process |
TAS | 282632 | | GO:0034641 | cellular nitrogen compound metabolic process |
TAS | -- | | GO:0042450 | arginine biosynthetic process via ornithine |
IEA | -- |
ASL for ontologies About GeneDecksing
|
Drugs & Compounds for ASL gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
ASL for compounds About GeneDecksing
Browse Tocris compounds for ASL
4 HMDB Compounds for ASL About this table
3 DrugBank Compounds for ASL About this table
10/20 Novoseek chemical compound relationships for ASL gene (see all 20) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| argininosuccinic acid |
94.1 |
7 |
17326097 (1), 10331469 (1), 2263616 (1), 8196062 (1) |
| asal |
89.4 |
26 |
2263616 (6), 8843999 (2), 16941645 (2), 8196062 (1) |
| citrulline |
87.2 |
24 |
19217439 (2), 9195976 (1), 10973788 (1), 12359751 (1) (see all 16) |
| carbamoyl phosphate |
79.6 |
12 |
19092443 (2), 8464164 (1), 15164414 (1), 1720458 (1) (see all 8) |
| ornithine |
73.7 |
15 |
8464164 (1), 9874001 (1), 10869432 (1), 20025860 (1) (see all 11) |
| arginine |
73.1 |
50 |
19217439 (2), 9256435 (1), 10709858 (1), 7795361 (1) (see all 26) |
| fumarate |
72.3 |
9 |
11092456 (2), 11747432 (1), 15362851 (1), 11747433 (1) |
| urea |
70.9 |
33 |
19217439 (3), 2111814 (2), 11486903 (2), 10709858 (1) (see all 16) |
| n-acetylglutamate |
69.2 |
1 |
15164414 (1) |
| guanidinoacetate |
66.8 |
5 |
16580861 (2), 16343968 (2) |
2 PharmGKB related drug/compound annotations for ASL geneAbout this table
Search CenterWatch for drugs/clinical trials and news about ASL / ARLY 
|
Transcripts for ASL gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for ASL gene (4 alternative transcripts): NM_000048.3 NM_001024943.1 NM_001024944.1 NM_001024946.1 Unigene Cluster for ASL: Argininosuccinate lyase Hs.632015 [show with all ESTs]Unigene Representative Sequence: NM_00102494311 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000304874(uc003tuo.3 uc003tup.3 uc003tur.3 uc003tuq.3) ENST00000487982(uc011kdu.1 uc011kdv.1) ENST00000496336(uc010kzx.2) ENST00000380839 ENST00000395332 ENST00000362000 ENST00000395331 ENST00000485657 ENST00000493708 ENST00000488343 ENST00000464970
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ASL (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ASL (see all 4) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ASL (NM_000639) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ASL | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASL  |
Additional cDNA sequence: AK300519.1 AK310912.1 AK316334.1 BC008195.1 BC033146.1 J03058.1 M14218.1 M57638.1 Y00753.1 24 DOTS entries: DT.92412452 DT.92434976 DT.100826288 DT.92356286 DT.100826271 DT.100826295 DT.92434973 DT.87014302 DT.100826282 DT.100826293 DT.100709150 DT.100826292 DT.100826294 DT.100709279 DT.100826286 DT.100826290 DT.100028135 DT.100826281 DT.121127505 DT.121127554 DT.91918974 DT.92434980 DT.102834213 DT.40213278 24/206 AceView cDNA sequences (see all 206): CR619700 BX328836 BU844469 AU279395 CR591306 CR618289 CR591307 BQ954569 BM826643 BE018013 BQ582256 AI186427 CR612547 AF073792 BX383545 BP372476 BU633176 CR613134 BQ652339 AA651919 CR626571 CA307983 BG324715 AA193592 GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for ASL About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | |
| SP1: | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | - |   | |   | - |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for ASL
|
Expression for ASL gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ASL expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GCCGAGACCA
About this image See ASL Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ASL
SOURCE GeneReport for Unigene cluster: Hs.632015 SABiosciences Expression via Pathway-Focused PCR Array including ASL:
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ASL Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ASL | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ASL | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASL | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASL |
Orthologs for ASL gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for ASL gene from 8/32 species (see all 32) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
ASL21 |
argininosuccinate lyase |
69.83(n) 69.55(a) |
  |
417545 NM_001030714.1 NP_001025885.1 |
African clawed frog (Xenopus laevis) |
Amphibia |
CA986689.12 |
-- |
77.3(n) |
  |
CA986689.1 |
zebrafish (Danio rerio) |
Actinopterygii |
zgc635322 |
hypothetical protein MGC63532 |
74.15(n) |
  |
393423 BC055132.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
CG95101 , 3 |
argininosuccinate lyase3 CG95101 |
52(a)3 57.7(n)1 53.11(a)1 |
  |
37717381 NM_135413.21 NP_609257.31 |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes |
ARG4(YHR018C)4 ARG41 |
Argininosuccinate lyase, catalyzes the final step in more4 Arg4p1 |
51.13(n)1 54.68(a)1 |
  |
8(141402-140011)4 8564111, 4 NP_011882.11, 4 |
thale cress (Arabidopsis thaliana) |
eudicotyledons |
AT5G109206 |
argininosuccinate lyase |
37(a) |
possible ortholog |
5(3441752-3444142) |
rice (Oryza sativa) |
Liliopsida |
-- |
argininosuccinate lyase, putative, expressed |
38(a) |
possible ortholog |
3(10841946-10846379) |
E. coli (Escherichia coli) |
Gamma proteobacteria |
argH6 |
argininosuccinate lyase |
45(a) |
possible ortholog |
Chromosome(4154873-4156246) b3960 |
ENSEMBL Gene Tree for ASL (if available) TreeFam Gene Tree for ASL (if available)  |
Paralogs for ASL gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for ASL gene
- ENSG000002493192
ASL for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for ASL PGOHUM00000250321
|
Genomic Variants for ASL gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 7 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for ASL (65540776 - 65558545 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for ASL: -- Human Gene Mutation Database (HGMD): ASL
Locus Specific Mutation Databases (LSDB): ASL
 | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases for ASL gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ASL for disorders About GeneDecksing
OMIM gene information: 608310 OMIM disorders: 207900 UniProtKB/Swiss-Prot: ARLY_HUMAN, P04424
Defects in ASL are the cause of arginosuccinic aciduria (ARGINSA) [MIM:207900]. An autosomal recessivedisorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skinlesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, andepisodic unconsciousness 20/26 diseases for ASL (see all 26): About MalaCardsargininosuccinic aciduria lysinuric protein intolerance ornithine carbamoyltransferase deficiency urea cycle disorder propionic acidemia citrullinemia hyperargininemia type 2 diabetes mellitus orofacial cleft amyotrophic lateral sclerosis lateral sclerosis diabetes mellitus liver disease convulsions pulmonary hypertension hypertension hepatocellular carcinoma hepatitis fibrosis cerebritis
2 diseases from the University of Copenhagen DISEASES database for ASL:Argininosuccinic aciduria Urea cycle disorder 10/13 Novoseek disease relationships for ASL gene (see all 13) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| argininosuccinate lyase deficiency |
99.2 |
73 |
18616627 (4), 11486903 (4), 12384776 (4), 11400762 (3) (see all 38) |
| aciduria argininosuccinic |
96.7 |
14 |
11092456 (2), 1705937 (1), 17326097 (1), 12408190 (1) (see all 8) |
| citrullinemia |
88 |
9 |
10869432 (1), 10331469 (1), 20025860 (1), 15164414 (1) (see all 7) |
| hyperammonemia |
79.6 |
4 |
17326097 (1), 18616627 (1), 12370774 (1) |
| lysinuric protein intolerance |
74.9 |
1 |
12450676 (1) |
| orotic aciduria |
74.1 |
1 |
17513443 (1) |
| hyperargininemia |
71.4 |
1 |
15164414 (1) |
| ornithine transcarbamylase deficiency |
70.8 |
2 |
10869432 (1), 15164414 (1) |
| hepatomegaly |
58.6 |
2 |
16808909 (1), 12370774 (1) |
| coagulopathy |
6.85 |
1 |
1861450 (1) |
Genatlas disease: ASL argininosuccinicaciduria with neonatal distress and hyperammonemia Human Genome Epidemiology (HuGE) Navigator: ASL (24 documents) Export disorders for ASL gene to outside databases
|
Publications for ASL gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ASL gene, integrated from 9 sources (see all 130): (articles sorted by number of sources associating them with ASL) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region. (PubMed id 2263616)1, 2, 9 Walker D.C.... McInnes R.R. (1990)
- Human argininosuccinate lyase: a structural basis for intragenic complementation. (PubMed id 9256435)1, 2, 9 Turner M.A.... Howell P.L. (1997)
- Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. (PubMed id 17326097)1, 2, 9 Trevisson E.... Burlina A.B. (2007)
- Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R. (PubMed id 11747432)1, 2, 9 Sampaleanu L.M.... Howell P.L. (2001)
- 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)1, 2, 9 Kleijer W.J.... Koch H.G. (2002)
- Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene. (PubMed id 1705937)1, 2, 9 Barbosa P.... O'Brien W.E. (1991)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase. (PubMed id 2644168)1, 2 Todd S....Naylor S.L. (1989)
- Isolation of cDNA clones of human argininosuccinate lyase and corrected amino acid sequence. (PubMed id 3391281)1, 2 Matuo S.... Miyata T. (1988)
- Gene sharing by delta-crystallin and argininosuccinate lyase. (PubMed id 3368457)1, 2 Piatigorsky J.... Wawrousek E.F. (1988)
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External Searches for ASL gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing ASL gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing ASL gene
(According to HUGE)
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Specialized Databases showing ASL gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| Name | Description |
| PharmGKB entry for ASL | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ASL |
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| Patent Information for ASL gene: Search GeneIP for patents involving ASL
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for ASL gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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| | | | OriGene Antibodies for ASL | | OriGene shRNA RFP for ASL | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ASL | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ASL | | OriGene Protein Over-expression Lysate for ASL | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for ASL | | OriGene 3'-UTR Clone for ASL | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ASL | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ASL | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | OriGene Purified Protein for ASL | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for ASL | | OriGene Custom Protein Services for ASL | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ASL | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ASL | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASL | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ASL | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASL | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ASL |
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| |  |  |  |  | | | | | Recombinant Protein for ASL |
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 | | ASL Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASL |
|  |  |  | | | ThermoFisher Antibody for ASL |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASL |
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