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Aliases for ADSSL1 Gene

Aliases for ADSSL1 Gene

  • Adenylosuccinate Synthase Like 1 2 3 5
  • Adenylosuccinate Synthetase, Muscle Isozyme 3 4
  • Adenylosuccinate Synthetase, Basic Isozyme 3 4
  • M-Type Adenylosuccinate Synthetase 3 4
  • IMP--Aspartate Ligase 1 3 4
  • EC 6.3.4.4 4 56
  • AMPSase 1 3 4
  • AdSS 1 3 4
  • Adenylosuccinate Synthetase Isozyme 1 3
  • ADSS1 4
  • MPD5 3

External Ids for ADSSL1 Gene

Previous GeneCards Identifiers for ADSSL1 Gene

  • GC14P099181
  • GC14P103162
  • GC14P104261
  • GC14P105190
  • GC14P085387

Summaries for ADSSL1 Gene

Entrez Gene Summary for ADSSL1 Gene

  • This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

GeneCards Summary for ADSSL1 Gene

ADSSL1 (Adenylosuccinate Synthase Like 1) is a Protein Coding gene. Diseases associated with ADSSL1 include Myopathy, Distal, 5 and Myopathy. Among its related pathways are Metabolism and Purine metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and GTPase activity. An important paralog of this gene is ADSS.

UniProtKB/Swiss-Prot for ADSSL1 Gene

  • 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.

Additional gene information for ADSSL1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADSSL1 Gene

Genomics for ADSSL1 Gene

GeneHancer (GH) Regulatory Elements for ADSSL1 Gene

Promoters and enhancers for ADSSL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I104721 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.3 -310 4.6 ATF1 ARID4B SIN3A ZNF2 ZBTB7B ZNF48 YY1 GLIS2 ZNF213 ZNF143 ADSSL1 AKT1 INF2 GC14M104689
GH14I104728 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 29.2 +9.2 9174 9.3 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B NEUROD1 DMAP1 YY1 AKT1 ADSSL1 SIVA1 CEP170B IGHG4 C14orf180
GH14I104766 Enhancer 1.4 Ensembl ENCODE dbSUPER 24.1 +43.8 43822 3.3 HDGF FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF48 YY1 POLR2B GLIS2 ENSG00000258430 LOC102723342 ADSSL1 AKT1 IGHG4 SIVA1
GH14I104696 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 18 -25.2 -25213 4.1 PKNOX1 ATF1 ARNT TCF12 GATA2 ZNF143 ATF7 ZNF263 NCOA1 ZNF592 ADSSL1 SIVA1 INF2 AKT1 C14orf180 ENSG00000258858 GC14M104689
GH14I104825 Enhancer 1.1 Ensembl ENCODE 10.9 +102.7 102723 2.9 ARID4B SIN3A ZBTB7B ZNF48 GLIS2 ZNF143 KLF7 SP3 SP5 NFYC LINC00638 ADSSL1 CEP170B RPS26P49
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADSSL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADSSL1 gene promoter:

Genomic Locations for ADSSL1 Gene

Genomic Locations for ADSSL1 Gene
chr14:104,724,186-104,747,325
(GRCh38/hg38)
Size:
23,140 bases
Orientation:
Plus strand
chr14:105,190,523-105,213,662
(GRCh37/hg19)

Genomic View for ADSSL1 Gene

Genes around ADSSL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADSSL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADSSL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADSSL1 Gene

Proteins for ADSSL1 Gene

  • Protein details for ADSSL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N142-PURA1_HUMAN
    Recommended name:
    Adenylosuccinate synthetase isozyme 1
    Protein Accession:
    Q8N142
    Secondary Accessions:
    • Q86TT6
    • Q8N714

    Protein attributes for ADSSL1 Gene

    Size:
    457 amino acids
    Molecular mass:
    50208 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAH32039.1; Type=Frameshift; Positions=1; Evidence={ECO:0000305}; Sequence=CAD62614.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ADSSL1 Gene

    Alternative splice isoforms for ADSSL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADSSL1 Gene

Selected DME Specific Peptides for ADSSL1 Gene

Q8N142:
  • TVGGVCTGLG
  • PMVRDGVYF
  • NGFTALALTKLDILD
  • YSSKAAR
  • RRCGWLD
  • GDEGKGK
  • QWGDEGK
  • ISDRAHL
  • YETLPGW
  • FIGNGVV
  • ERIRPMV
  • YPFVTSS
  • YEALHGPPKK
  • EYDFHLLPSGIIN
  • KAYTTRVG
  • NAGHTVV
  • HLPGLFEEAEKN
  • GGNNAGH
  • GTTKKGIGP
  • TGRKRRCGW

Post-translational modifications for ADSSL1 Gene

No Post-translational modifications

Domains & Families for ADSSL1 Gene

Gene Families for ADSSL1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ADSSL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N142

UniProtKB/Swiss-Prot:

PURA1_HUMAN :
  • Belongs to the adenylosuccinate synthetase family.
Family:
  • Belongs to the adenylosuccinate synthetase family.
genes like me logo Genes that share domains with ADSSL1: view

Function for ADSSL1 Gene

Molecular function for ADSSL1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
GTP + IMP + L-aspartate = GDP + phosphate + N(6)-(1,2-dicarboxyethyl)-AMP.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for ADSSL1 Gene

Phenotypes From GWAS Catalog for ADSSL1 Gene

Gene Ontology (GO) - Molecular Function for ADSSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0004019 adenylosuccinate synthase activity IMP,IEA 26506222
GO:0005525 GTP binding IEA,NAS 15786719
GO:0016874 ligase activity IEA --
GO:0042301 phosphate ion binding NAS 15786719
genes like me logo Genes that share ontologies with ADSSL1: view
genes like me logo Genes that share phenotypes with ADSSL1: view

Human Phenotype Ontology for ADSSL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for ADSSL1 Gene

miRTarBase miRNAs that target ADSSL1

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ADSSL1 Gene

Localization for ADSSL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADSSL1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADSSL1 gene
Compartment Confidence
cytosol 5
mitochondrion 3

Gene Ontology (GO) - Cellular Components for ADSSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15786719
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ADSSL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADSSL1 Gene

Pathways & Interactions for ADSSL1 Gene

genes like me logo Genes that share pathways with ADSSL1: view

UniProtKB/Swiss-Prot Q8N142-PURA1_HUMAN

  • Pathway: Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 1/2.

Gene Ontology (GO) - Biological Process for ADSSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process NAS 15786719
GO:0006163 purine nucleotide metabolic process IEA --
GO:0006164 purine nucleotide biosynthetic process IEA --
GO:0006167 AMP biosynthetic process IDA 15786719
GO:0006531 aspartate metabolic process IEA --
genes like me logo Genes that share ontologies with ADSSL1: view

No data available for SIGNOR curated interactions for ADSSL1 Gene

Drugs & Compounds for ADSSL1 Gene

(9) Drugs for ADSSL1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Aspartic acid Approved Nutra Target 0
Phosphoric acid Approved Pharma 0
Magnesium Approved Nutra 0
Adenylsuccinic acid Experimental Pharma Target 0
Guanosine diphosphate Experimental Pharma Target 0

(2) Additional Compounds for ADSSL1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N(6)-(1,2-dicarboxyethyl)AMP
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with ADSSL1: view

Transcripts for ADSSL1 Gene

Unigene Clusters for ADSSL1 Gene

Adenylosuccinate synthase like 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADSSL1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13
SP1: -
SP2: -
SP3:
SP4:

Relevant External Links for ADSSL1 Gene

GeneLoc Exon Structure for
ADSSL1
ECgene alternative splicing isoforms for
ADSSL1

Expression for ADSSL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADSSL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADSSL1 Gene

This gene is overexpressed in Muscle - Skeletal (x23.0) and Heart - Left Ventricle (x5.5).

Protein differential expression in normal tissues from HIPED for ADSSL1 Gene

This gene is overexpressed in Tonsil (48.9) and Heart (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ADSSL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ADSSL1 Gene:

ADSSL1

SOURCE GeneReport for Unigene cluster for ADSSL1 Gene:

Hs.592327

mRNA Expression by UniProt/SwissProt for ADSSL1 Gene:

Q8N142-PURA1_HUMAN
Tissue specificity: Predominantly expressed in skeletal muscle and heart, as well as in several hematopoietic cell lines and solid tumors.

Evidence on tissue expression from TISSUES for ADSSL1 Gene

  • Heart(4.6)
  • Liver(4.3)
  • Muscle(3.8)
genes like me logo Genes that share expression patterns with ADSSL1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADSSL1 Gene

Orthologs for ADSSL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ADSSL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADSSL1 34
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADSSL1 34
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adssl1 33 16 34
  • 89.28 (n)
rat
(Rattus norvegicus)
Mammalia Adssl1 33
  • 89.2 (n)
cow
(Bos Taurus)
Mammalia ADSSL1 33 34
  • 87.96 (n)
dog
(Canis familiaris)
Mammalia ADSSL1 33 34
  • 85.7 (n)
oppossum
(Monodelphis domestica)
Mammalia ADSSL1 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADSSL1 33 34
  • 79.08 (n)
lizard
(Anolis carolinensis)
Reptilia ADSSL1 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adssl1 33
  • 76.11 (n)
zebrafish
(Danio rerio)
Actinopterygii adssl1 33 34
  • 74.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17273 33 34
  • 64.85 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003405 33
  • 63.01 (n)
worm
(Caenorhabditis elegans)
Secernentea C37H5.6 33 34
  • 55.68 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL186W 33
  • 57.66 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE12 33 34 36
  • 55.69 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D19426g 33
  • 54.82 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ADSS 33
  • 52.12 (n)
rice
(Oryza sativa)
Liliopsida Os03g0699300 33
  • 54.35 (n)
corn
(Zea mays)
Liliopsida Zm.309 33
wheat
(Triticum aestivum)
Liliopsida Ta.121 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ade2 33
  • 57.29 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09789 33
  • 56.25 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8281 34
  • 54 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3790 33
Species where no ortholog for ADSSL1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ADSSL1 Gene

ENSEMBL:
Gene Tree for ADSSL1 (if available)
TreeFam:
Gene Tree for ADSSL1 (if available)

Paralogs for ADSSL1 Gene

Paralogs for ADSSL1 Gene

(1) SIMAP similar genes for ADSSL1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ADSSL1: view

Variants for ADSSL1 Gene

Sequence variations from dbSNP and Humsavar for ADSSL1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs140614802 pathogenic, Myopathy, distal, 5, Myopathy, distal, 5 (MPD5) [MIM:617030] 104,741,231(+) G/A coding_sequence_variant, missense_variant
rs559454746 pathogenic, Myopathy, distal, 5 104,741,973(+) A/ coding_sequence_variant, frameshift
rs1000017517 -- 104,745,849(+) C/A intron_variant
rs1000050078 -- 104,745,657(+) G/A intron_variant
rs1000203662 -- 104,741,144(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ADSSL1 Gene

Variant ID Type Subtype PubMed ID
dgv265n27 CNV loss 19166990
dgv266n27 CNV loss 19166990
dgv3952n54 CNV loss 21841781
dgv3953n54 CNV gain 21841781
dgv3954n54 CNV loss 21841781
esv3635623 CNV gain 21293372
esv3635627 CNV gain 21293372
nsv1054574 CNV loss 25217958
nsv1437 CNV insertion 18451855
nsv456455 CNV loss 19166990
nsv470677 CNV loss 18288195
nsv470678 CNV gain 18288195
nsv517038 CNV loss 19592680
nsv566051 CNV gain+loss 21841781
nsv566057 CNV gain+loss 21841781
nsv566058 CNV gain 21841781
nsv566062 CNV gain+loss 21841781
nsv566069 CNV loss 21841781
nsv820230 CNV gain 19587683
nsv952271 CNV deletion 24416366

Variation tolerance for ADSSL1 Gene

Residual Variation Intolerance Score: 16.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.14; 51.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADSSL1 Gene

Human Gene Mutation Database (HGMD)
ADSSL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADSSL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADSSL1 Gene

Disorders for ADSSL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ADSSL1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopathy, distal, 5
  • mpd5
myopathy
  • muscular diseases
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PURA1_HUMAN
  • Myopathy, distal, 5 (MPD5) [MIM:617030]: A form of distal myopathy, a group of muscular disorders characterized by progressive muscular weakness and muscle atrophy beginning in the hands, the legs or the feet. MPD5 is an autosomal recessive form, predominantly affecting the lower limbs. {ECO:0000269 PubMed:26506222}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ADSSL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ADSSL1: view

No data available for Genatlas for ADSSL1 Gene

Publications for ADSSL1 Gene

  1. Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells. (PMID: 15786719) Sun H … Cao X (Molecular and cellular biochemistry 2005) 3 4 22 58
  2. ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. (PMID: 26506222) Park HJ … Choi BO (Annals of neurology 2016) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for ADSSL1 Gene

Sources for ADSSL1 Gene

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