Human Gene ASS1 (ENST00000352480.10_4) from GENCODE V47lift37
  Description: argininosuccinate synthase 1, transcript variant 2 (from RefSeq NM_054012.4)
Gencode Transcript: ENST00000352480.10_4
Gencode Gene: ENSG00000130707.18_7
Transcript (Including UTRs)
   Position: hg19 chr9:133,320,348-133,376,661 Size: 56,314 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr9:133,327,616-133,376,408 Size: 48,793 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:133,320,348-133,376,661)mRNA (may differ from genome)Protein (412 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: Q5T6L4_HUMAN
DESCRIPTION: RecName: Full=Argininosuccinate synthase; EC=6.3.4.5; AltName: Full=Citrulline--aspartate ligase;
CATALYTIC ACTIVITY: ATP + L-citrulline + L-aspartate = AMP + diphosphate + N(omega)-(L-arginino)succinate.
PATHWAY: Amino-acid biosynthesis; L-arginine biosynthesis; L- arginine from L-ornithine and carbamoyl phosphate: step 2/3.
SUBUNIT: Homotetramer (By similarity).
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
SIMILARITY: Belongs to the argininosuccinate synthase family. Type 1 subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ASS1
Diseases sorted by gene-association score: citrullinemia* (1385), acute neonatal citrullinemia type i* (350), adult-onset citrullinemia type i* (350), argininosuccinic aciduria (25), lysinuric protein intolerance (16), citrullinemia, adult-onset type ii (15), argininemia (14), ornithine transcarbamylase deficiency (13), carbamoylphosphate synthetase i deficiency (12), orotic aciduria (11), propionicacidemia (11), chronic myelocytic leukemia (10), postpartum psychosis (10), nail-patella syndrome (7), reye syndrome (7), urea cycle disorder (7), pleural cancer (7), autosomal recessive disease (5), acth deficiency (5), malignant pleural mesothelioma (3), waardenburg's syndrome (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 294.84 RPKM in Liver
Total median expression: 1641.00 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -8.3040-0.208 Picture PostScript Text
3' UTR -84.70253-0.335 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001518 - Arginosuc_synth
IPR018223 - Arginosuc_synth_CS
IPR023434 - Arginosuc_synth_type_1_subfam
IPR024074 - AS_cat/multimer_dom_body
IPR014729 - Rossmann-like_a/b/a_fold

Pfam Domains:
PF00764 - Arginosuccinate synthase
PF06508 - Queuosine biosynthesis protein QueC

SCOP Domains:
52402 - Adenine nucleotide alpha hydrolases-like
69864 - Argininosuccinate synthetase, C-terminal domain

ModBase Predicted Comparative 3D Structure on Q5T6L4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004055 argininosuccinate synthase activity
GO:0005524 ATP binding
GO:0015643 toxic substance binding

Biological Process:
GO:0000050 urea cycle
GO:0000053 argininosuccinate metabolic process
GO:0001822 kidney development
GO:0001889 liver development
GO:0006526 arginine biosynthetic process
GO:0006953 acute-phase response
GO:0007494 midgut development
GO:0007568 aging
GO:0007584 response to nutrient
GO:0007623 circadian rhythm
GO:0009636 response to toxic substance
GO:0010043 response to zinc ion
GO:0010046 response to mycotoxin
GO:0014075 response to amine
GO:0032355 response to estradiol
GO:0032496 response to lipopolysaccharide
GO:0042493 response to drug
GO:0043200 response to amino acid
GO:0043434 response to peptide hormone
GO:0048545 response to steroid hormone
GO:0051384 response to glucocorticoid
GO:0060416 response to growth hormone
GO:0060539 diaphragm development
GO:0070542 response to fatty acid
GO:0071222 cellular response to lipopolysaccharide
GO:0071230 cellular response to amino acid stimulus
GO:0071242 cellular response to ammonium ion
GO:0071320 cellular response to cAMP
GO:0071346 cellular response to interferon-gamma
GO:0071356 cellular response to tumor necrosis factor
GO:0071377 cellular response to glucagon stimulus
GO:0071400 cellular response to oleic acid
GO:0071418 cellular response to amine stimulus
GO:0071549 cellular response to dexamethasone stimulus

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005764 lysosome
GO:0005783 endoplasmic reticulum
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0043204 perikaryon
GO:0043209 myelin sheath
GO:0070852 cell body fiber


-  Descriptions from all associated GenBank mRNAs
  LV472767 - JP 2016534992-A/1: MRNA THERAPY FOR ARGININOSUCCINATE SYNTHETASE DEFICIENCY.
LF205636 - JP 2014500723-A/13139: Polycomb-Associated Non-Coding RNAs.
BC009243 - Homo sapiens argininosuccinate synthetase 1, mRNA (cDNA clone MGC:3634 IMAGE:3010137), complete cds.
GQ891434 - Homo sapiens clone HEL-S-155 epididymis secretory sperm binding protein mRNA, complete cds.
AK304625 - Homo sapiens cDNA FLJ54252 complete cds, highly similar to Argininosuccinate synthase (EC 6.3.4.5).
AK315093 - Homo sapiens cDNA, FLJ96050, highly similar to Homo sapiens argininosuccinate synthetase (ASS), transcript variant1, mRNA.
AK293114 - Homo sapiens cDNA FLJ78448 complete cds, highly similar to Homo sapiens argininosuccinate synthetase (ASS), transcript variant 1, mRNA.
BC021676 - Homo sapiens argininosuccinate synthetase 1, mRNA (cDNA clone MGC:22864 IMAGE:4042389), complete cds.
AK027126 - Homo sapiens cDNA: FLJ23473 fis, clone HSI13532, highly similar to HSASD Human mRNA for argininosuccinate synthetase.
BC013224 - Homo sapiens argininosuccinate synthetase 1, mRNA (cDNA clone IMAGE:3455163).
X01630 - Human mRNA for argininosuccinate synthetase.
BC052288 - Homo sapiens cDNA clone IMAGE:4901992, **** WARNING: chimeric clone ****.
JD057406 - Sequence 38430 from Patent EP1572962.
AB527558 - Synthetic construct DNA, clone: pF1KB6619, Homo sapiens ASS1 gene for argininosuccinate synthetase 1, without stop codon, in Flexi system.
EU832344 - Synthetic construct Homo sapiens clone HAIB:100067373; DKFZo008G1027 argininosuccinate synthetase 1 protein (ASS1) gene, encodes complete protein.
EU832429 - Synthetic construct Homo sapiens clone HAIB:100067458; DKFZo004G1028 argininosuccinate synthetase 1 protein (ASS1) gene, encodes complete protein.
CU692384 - Synthetic construct Homo sapiens gateway clone IMAGE:100017210 5' read ASS1 mRNA.
KU177923 - Homo sapiens argininosuccinate synthase 1 isoform 1 (ASS1) mRNA, partial cds.
KU177924 - Homo sapiens argininosuccinate synthase 1 isoform 2 (ASS1) mRNA, partial cds, alternatively spliced.
KU177925 - Homo sapiens argininosuccinate synthase 1 isoform 3 (ASS1) mRNA, complete cds, alternatively spliced.
KU177926 - Homo sapiens argininosuccinate synthase 1 isoform 4 (ASS1) mRNA, partial cds, alternatively spliced.
KJ890722 - Synthetic construct Homo sapiens clone ccsbBroadEn_00116 ASS1 gene, encodes complete protein.
KJ896467 - Synthetic construct Homo sapiens clone ccsbBroadEn_05861 ASS1 gene, encodes complete protein.
KR710490 - Synthetic construct Homo sapiens clone CCSBHm_00013355 ASS1 (ASS1) mRNA, encodes complete protein.
KR710491 - Synthetic construct Homo sapiens clone CCSBHm_00013382 ASS1 (ASS1) mRNA, encodes complete protein.
KR710492 - Synthetic construct Homo sapiens clone CCSBHm_00013406 ASS1 (ASS1) mRNA, encodes complete protein.
KR710493 - Synthetic construct Homo sapiens clone CCSBHm_00013413 ASS1 (ASS1) mRNA, encodes complete protein.
LF346697 - JP 2014500723-A/154200: Polycomb-Associated Non-Coding RNAs.
LF346700 - JP 2014500723-A/154203: Polycomb-Associated Non-Coding RNAs.
Z36810 - H.sapiens (xs158) mRNA, 250bp.
LF346702 - JP 2014500723-A/154205: Polycomb-Associated Non-Coding RNAs.
LF346710 - JP 2014500723-A/154213: Polycomb-Associated Non-Coding RNAs.
LF346713 - JP 2014500723-A/154216: Polycomb-Associated Non-Coding RNAs.
LF346724 - JP 2014500723-A/154227: Polycomb-Associated Non-Coding RNAs.
LF346729 - JP 2014500723-A/154232: Polycomb-Associated Non-Coding RNAs.
LF346730 - JP 2014500723-A/154233: Polycomb-Associated Non-Coding RNAs.
S73202 - argininosuccinate synthetase [human, Japanese classical citrullinemia patient A82, mRNA Partial Mutant, 91 nt].
LF346732 - JP 2014500723-A/154235: Polycomb-Associated Non-Coding RNAs.
JD315379 - Sequence 296403 from Patent EP1572962.
JD389541 - Sequence 370565 from Patent EP1572962.
MA582274 - JP 2018138019-A/154200: Polycomb-Associated Non-Coding RNAs.
MA582277 - JP 2018138019-A/154203: Polycomb-Associated Non-Coding RNAs.
MA582279 - JP 2018138019-A/154205: Polycomb-Associated Non-Coding RNAs.
MA582287 - JP 2018138019-A/154213: Polycomb-Associated Non-Coding RNAs.
MA582290 - JP 2018138019-A/154216: Polycomb-Associated Non-Coding RNAs.
MA582301 - JP 2018138019-A/154227: Polycomb-Associated Non-Coding RNAs.
MA582306 - JP 2018138019-A/154232: Polycomb-Associated Non-Coding RNAs.
MA582307 - JP 2018138019-A/154233: Polycomb-Associated Non-Coding RNAs.
MA582309 - JP 2018138019-A/154235: Polycomb-Associated Non-Coding RNAs.
MA441213 - JP 2018138019-A/13139: Polycomb-Associated Non-Coding RNAs.
MP263309 - Sequence 1 from Patent EP3501605.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-4983 - citrulline-nitric oxide cycle
PWY-4984 - urea cycle

-  Other Names for This Gene
  Alternate Gene Symbols: ASS , ASS1 , ENST00000352480.1, ENST00000352480.2, ENST00000352480.3, ENST00000352480.4, ENST00000352480.5, ENST00000352480.6, ENST00000352480.7, ENST00000352480.8, ENST00000352480.9, hCG_31245 , NM_054012, Q5T6L4, Q5T6L4_HUMAN, uc317ygg.1, uc317ygg.2
UCSC ID: ENST00000352480.10_4
RefSeq Accession: NM_054012.4
Protein: Q5T6L4

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ASS1:
ctlm (Citrullinemia Type I)
ucd-overview (Urea Cycle Disorders Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.