Human Gene ADSS1 (ENST00000330877.7_5) from GENCODE V47lift37
  Description: adenylosuccinate synthase 1, transcript variant 2 (from RefSeq NM_152328.5)
Gencode Transcript: ENST00000330877.7_5
Gencode Gene: ENSG00000185100.12_9
Transcript (Including UTRs)
   Position: hg19 chr14:105,190,566-105,213,647 Size: 23,082 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr14:105,190,608-105,213,340 Size: 22,733 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:105,190,566-105,213,647)mRNA (may differ from genome)Protein (457 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMGI
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PURA1_HUMAN
DESCRIPTION: RecName: Full=Adenylosuccinate synthetase isozyme 1; Short=AMPSase 1; Short=AdSS 1; EC=6.3.4.4; AltName: Full=Adenylosuccinate synthetase, basic isozyme; AltName: Full=Adenylosuccinate synthetase, muscle isozyme; Short=M-type adenylosuccinate synthetase; AltName: Full=IMP--aspartate ligase 1;
FUNCTION: Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP (By similarity).
CATALYTIC ACTIVITY: GTP + IMP + L-aspartate = GDP + phosphate + N(6)-(1,2-dicarboxyethyl)-AMP.
COFACTOR: Binds 1 magnesium ion per subunit (By similarity).
PATHWAY: Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 1/2.
SUBUNIT: Homodimer (By similarity).
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Predominantly expressed in skeletal muscle and heart, as well as in several hematopoietic cell lines and solid tumors.
SIMILARITY: Belongs to the adenylosuccinate synthetase family.
SEQUENCE CAUTION: Sequence=AAH32039.1; Type=Frameshift; Positions=1; Sequence=CAD62614.1; Type=Erroneous initiation;

-  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


+  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: 146.77 RPKM in Muscle - Skeletal
Total median expression: 426.59 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 -14.2042-0.338 Picture PostScript Text
3' UTR -77.80307-0.253 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
IPR018220 - Adenylosuccinate_synthase_AS
IPR001114 - Adenylosuccinate_synthetase

Pfam Domains:
PF00709 - Adenylosuccinate synthetase

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2GJO - Model


ModBase Predicted Comparative 3D Structure on Q8N142
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-  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 orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
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     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003924 GTPase activity
GO:0004019 adenylosuccinate synthase activity
GO:0005525 GTP binding
GO:0016874 ligase activity
GO:0042301 phosphate ion binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
GO:0051015 actin filament binding

Biological Process:
GO:0002376 immune system process
GO:0006163 purine nucleotide metabolic process
GO:0006164 purine nucleotide biosynthetic process
GO:0006167 AMP biosynthetic process
GO:0006531 aspartate metabolic process
GO:0006541 glutamine metabolic process
GO:0009168 purine ribonucleoside monophosphate biosynthetic process
GO:0014850 response to muscle activity
GO:0035690 cellular response to drug
GO:0042594 response to starvation
GO:0044208 'de novo' AMP biosynthetic process
GO:0046040 IMP metabolic process
GO:0071257 cellular response to electrical stimulus

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC047904 - Homo sapiens adenylosuccinate synthase like 1, mRNA (cDNA clone MGC:57752 IMAGE:5755025), complete cds.
AK095921 - Homo sapiens cDNA FLJ38602 fis, clone HEART2003836, highly similar to ADENYLOSUCCINATE SYNTHETASE, MUSCLE ISOZYME (EC 6.3.4.4).
AY037159 - Homo sapiens adenylosuccinate synthetase isozyme (ADSS) mRNA, complete cds.
BX248286 - human full-length cDNA clone CS0DI063YP21 of Placenta of Homo sapiens (human).
CU690530 - Synthetic construct Homo sapiens gateway clone IMAGE:100021423 5' read ADSSL1 mRNA.
KJ895370 - Synthetic construct Homo sapiens clone ccsbBroadEn_04764 ADSSL1 gene, encodes complete protein.
BC032039 - Homo sapiens adenylosuccinate synthase like 1, mRNA (cDNA clone IMAGE:4824961), partial cds.
AK096720 - Homo sapiens cDNA FLJ39401 fis, clone PLACE6011774, highly similar to Adenylosuccinate synthetase isozyme 1 (EC 6.3.4.4).
AK096124 - Homo sapiens cDNA FLJ38805 fis, clone LIVER2005625, highly similar to Adenylosuccinate synthetase isozyme 1 (EC 6.3.4.4).
AK054648 - Homo sapiens cDNA FLJ30086 fis, clone BNGH41000002, moderately similar to ADENYLOSUCCINATE SYNTHETASE, MUSCLE ISOZYME (EC 6.3.4.4).
JD303515 - Sequence 284539 from Patent EP1572962.
JD128570 - Sequence 109594 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7219 - adenosine ribonucleotides de novo biosynthesis
PWY-841 - purine nucleotides de novo biosynthesis
PWY66-409 - superpathway of purine nucleotide salvage

Reactome (by CSHL, EBI, and GO)

Protein Q8N142 (Reactome details) participates in the following event(s):

R-HSA-111524 IMP + L-Aspartate + GTP => Adenylosuccinate + GDP + Pi [ADSS]
R-HSA-73817 Purine ribonucleoside monophosphate biosynthesis
R-HSA-8956320 Nucleobase biosynthesis
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ADSS1 , ADSSL1 , ENST00000330877.1, ENST00000330877.2, ENST00000330877.3, ENST00000330877.4, ENST00000330877.5, ENST00000330877.6, NM_152328, PURA1_HUMAN, Q86TT6, Q8N142, Q8N714, uc317tbp.1, uc317tbp.2
UCSC ID: ENST00000330877.7_5
RefSeq Accession: NM_152328.5
Protein: Q8N142 (aka PURA1_HUMAN)

-  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.