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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ADSSL1 Gene

protein-coding   GIFtS: 63
GCID: GC14P105190

adenylosuccinate synthase like 1
 Explore 6 diseases affiliated with
ADSSL1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ADSSL1    

Aliases
for ADSSL1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Adenylosuccinate Synthase Like 11 2     M-Type Adenylosuccinate Synthetase2 3
Adenylosuccinate Synthetase, Basic Isozyme2 3     EC 6.3.4.43 8
Adenylosuccinate Synthetase, Muscle Isozyme2 3     FLJ386021
AdSS 12 3     Adenylosuccinate Synthetase Isozyme 12
AMPSase 12 3     ADSS13
IMP--Aspartate Ligase 12 3     ADSL15

External Ids:    HGNC: 200931   Entrez Gene: 1226222   Ensembl: ENSG000001851007   OMIM: 6124985   UniProtKB: Q8N1423   

Export aliases for ADSSL1 gene to outside databases

Previous GC identifers: GC14P099181 GC14P103162 GC14P104261 GC14P085387


Summaries
for ADSSL1 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 ADSSL1:
ADSSL1 is a muscle isozyme of adenylosuccinate synthase (EC 6.3.4.4), which catalyzes the initial reaction in the
conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP) (Sun et al., 2005 (PubMed
15786719)).(supplied by OMIM, Dec 2008)

UniProtKB/Swiss-Prot: PURA1_HUMAN, Q8N142
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)




Genomic Views
for ADSSL1 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_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ADSSL1 gene promoter:
         USF1   p53   USF-1   USF2   USF-1:USF-2   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ADSSL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ADSSL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADSSL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.33   Ensembl cytogenetic band:  14q32.33   HGNC cytogenetic band: 14q32.33

ADSSL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADSSL1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P105190:  view genomic region     (about GC identifiers)

Start:
 105,190,523 bp from pter      End:
 105,213,662 bp from pter
Size:
 23,140 bases      Orientation:
 plus strand

Proteins
for ADSSL1 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: PURA1_HUMAN, Q8N142 (See protein sequence)
Recommended Name: Adenylosuccinate synthetase isozyme 1  
Size: 457 amino acids; 50208 Da
Cofactor: Binds 1 magnesium ion per subunit (By similarity)
Subunit: Homodimer (By similarity)
Subcellular location: Cytoplasm
Sequence caution: Sequence=AAH32039.1; Type=Frameshift; Positions=1; Sequence=CAD62614.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for ADSSL1:
2GJO (3D)    
Secondary accessions: Q86TT6 Q8N714
Alternative splicing: 2 isoforms:  Q8N142-1   Q8N142-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ADSSL1: NX_Q8N142

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N142

    • 4/20 DME Specific Peptides for ADSSL1 (Q8N142) (see all 20)
     RRCGWLD  GDEGKGK  QWGDEGK  NAGHTVV 

    ADSSL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_689541.1  NP_954634.1  

    ENSEMBL proteins: 
     ENSP00000331260   ENSP00000333019   ENSP00000450759   ENSP00000452303   ENSP00000450433  
    Reactome Protein details: Q8N142
    Human Recombinant Protein Products: 
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    Uscn Proteins for ADSSL1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA15786719
    GO:0005829cytosol TAS--


    ADSSL1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ADSSL1

    Protein Domains /
    Families
    for ADSSL1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ADSSL1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR018220 Adenylosuccinate_synthase_AS
     IPR001114 Adenylosuccinate_synthetase

    Graphical View of Domain Structure for InterPro Entry Q8N142

    ProtoNet protein and cluster: Q8N142

    1 Blocks protein family: IPB001114 Adenylosuccinate synthetase

    UniProtKB/Swiss-Prot: PURA1_HUMAN, Q8N142
    Similarity: Belongs to the adenylosuccinate synthetase family


    Function
    for ADSSL1 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: PURA1_HUMAN, Q8N142
    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

    Enzyme Number (IUBMB): EC 6.3.4.41 2

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for ADSSL1

    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0004019adenylosuccinate synthase activity IDA15786719
    GO:0005525GTP binding NAS15786719
    GO:0042301phosphate ion binding NAS15786719


    ADSSL1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ADSSL1:
     Increased G1 DNA content 

    Animal Models:
         1 MGI phenotypic allele for Adssl1 (no phenotypes)

    ADSSL1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ADSSL1 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 - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Purine metabolism
    		Purine metabolism1.00
    		Metabolism of nucleotides0.42
    2purine nucleotides de novo biosynthesis II
    		purine nucleotides de novo biosynthesis II1.00
    		Purine ribonucleoside monophosphate biosynthesis0.91
    3Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    4ATP/ITP metabolism
    		ATP/ITP metabolism1.00
    		ATP/ITP metabolism0.98
    5Alanine, aspartate and glutamate metabolism
    		Alanine, aspartate and glutamate metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ADSSL1
        ATP/ITP metabolism


    1 GeneGo (Thomson Reuters) Pathway for ADSSL1
        ATP/ITP metabolism

    1 BioSystems Pathway for ADSSL1 
        purine nucleotides de novo biosynthesis II

    4        Reactome Pathways for ADSSL1
        Metabolism of nucleotides
    Metabolism
    Purine ribonucleoside monophosphate biosynthesis
    Purine metabolism


    3         Kegg Pathways  (Kegg details for ADSSL1):
        Purine metabolism
    Alanine, aspartate and glutamate metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PURA1_HUMAN, Q8N142
    Pathway: Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 1/2


    ADSSL1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ADSSL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/84 Interacting proteins for ADSSL1 (Q8N1422, 3 ENSP000003330194) via UniProtKB, MINT, STRING, and/or I2D (see all 84)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3, ENSP000003095034MINT-3319198 I2D: score=1 STRING: ENSP00000309503
    ADSLP305663, ENSP000002161944I2D: score=1 STRING: ENSP00000216194
    NAGSQ8N1593, ENSP000002934044I2D: score=1 STRING: ENSP00000293404
    CADP277083, ENSP000002647054I2D: score=1 STRING: ENSP00000264705
    APRTP077413, ENSP000003676154I2D: score=1 STRING: ENSP00000367615
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002376immune system process NAS15786719
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006164purine nucleotide biosynthetic process ----
    GO:0006167AMP biosynthetic process IDA15786719
    GO:0009168purine ribonucleoside monophosphate biosynthetic process TAS--


    ADSSL1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ADSSL1 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ADSSL1

    7 HMDB Compounds for ADSSL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenylsuccinic acid6-Succino-5'-adenylate (see all 14)19046-78-7--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Inosinic acid5'-IMP (see all 9)131-99-7--
    L-Aspartic acid(+)-Aspartate (see all 41)56-84-8--
    MagnesiumMagnesium (see all 2)7439-95-4--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--

    7 DrugBank Compounds for ADSSL1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    6-O-Phosphoryl Inosine Monophosphate-- --target--17139284 17016423 10592235
    Adenylosuccinic AcidAspartyl adenylate (see all 4)19046-78-7target--17139284 17016423 10592235
    Guanosine-5'-Diphosphate-- 146-91-8target--17139284 17016423 10592235
    Guanosine-5'-Triphosphate-- 86-01-1target--17139284 17016423 10592235
    Hadacidin-- --target--17139284 17016423 10592235
    Inosinic Acid-- 131-99-7target--17139284 17016423 10592235
    L-Aspartic Acid(+)-Aspartic acid (see all 23)56-84-8target--17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about ADSSL1 / PURA1 

    Transcripts
    for ADSSL1 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 ADSSL1 gene (2 alternative transcripts): 
    NM_152328.3  NM_199165.1  

    Unigene Cluster for ADSSL1:

    Adenylosuccinate synthase like 1
    Hs.592327  [show with all ESTs]
    Unigene Representative Sequence: AK096124
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330877(uc001ypd.3) ENST00000555486 ENST00000332972(uc001ype.3 uc001ypf.3)
    ENST00000553540 ENST00000557582 ENST00000554281 ENST00000553580 ENST00000555884
    ENST00000557271 ENST00000554657 ENST00000556623 ENST00000555674

    miRNA
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK054648.1 AK095921.1 AK096124.1 AK096720.1 AY037159.1 BC032039.1 BC047904.1 BX248286.1 

    9 DOTS entries:

    DT.442072  DT.109072  DT.92421616  DT.95169110  DT.100676684  DT.100813902  DT.100748131  DT.91848693 
    DT.95143916 

    24/127 AceView cDNA sequences (see all 127):

    CA428563 CA447355 F18071 NM_152328 BQ946027 CR620273 BX248286 BQ067498 
    CA391340 AK095921 BQ920805 AA321069 CF552169 AK054648 AA194467 BM700714 
    AJ346456 BU727813 R24502 BM807505 CK903690 BC047904 AJ346565 BX384294 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ADSSL1    About this scheme

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


    ECgene alternative splicing isoforms for ADSSL1

    Expression
    for ADSSL1 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

    ADSSL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTTGCGTGTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ADSSL1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneZeugopod PeriosteumBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ progenitor W8 (Embryonic Progenitor Cell)

    See ADSSL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ADSSL1

    SOURCE GeneReport for Unigene cluster: Hs.592327

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

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    In Situ
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    Orthologs
    for ADSSL1 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 ADSSL1 gene from 11/40 species (see all 40)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Adssl11 , 5 adenylosuccinate synthetase like 11, 5 89.28(n)1
    96.72(a)1    		   12 (61.20 cM)5
    115651  NM_007421.21  NP_031447.11 
     1126200475 
    chicken
    (Gallus gallus)    		 Aves ADSSL11 adenylosuccinate synthase like 1 79.03(n)
    91.39(a)    		   776127  XM_001235679.2  XP_001235680.2 
    lizard
    (Anolis carolinensis)    		 Reptilia ADSSL16
    		 --
    		 82(a)
    		 1 ↔ 1
    		 1(3648750-3678084)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia BX715359.12   -- 78.19(n)    BX715359.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii adssl11 adenylosuccinate synthase like 1 74.14(n)
    81.61(a)    		   407989  NM_214820.1  NP_999985.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG172736
    		 --
    		 53(a)
    		 1 → many
    		 3R(16650389-16656337)
    worm
    (Caenorhabditis elegans)    		 Secernentea C37H5.66
    		 Adenylosuccinate synthetase
    		 46(a)
    		 1 → many
    		 V(4818613-4823330)
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes ADE12(YNL220W)4
    ADE121    		 Adenylosuccinate synthase, catalyzes the first step in synthesis of adenosine monophosphate from inosine 5'monophosphate during purine nucleotide biosynthesis; exhibits binding to single-stranded autonomously replicating (ARS) core sequence less4
    Ade12p1    		 55.66(n)1
    58.19(a)1    		   14(234413-235714)4
    8555011, 4  NP_014179.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ADSS6
    		 adenylosuccinate synthetase
    		 40(a)
    		 1 → many
    		 3(21334284-21336674)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 adenylosuccinate synthetase, chloroplast precursor...
    adenylosuccinate synthetase, chloroplast precursor...
    		 42(a)
    42(a)
    		 many ↔ many
    many ↔ many
    		 3(3985725-3988995)
    3(28028540-28032024)


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

    Paralogs
    for ADSSL1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ADSSL1 gene
    ADSS2  
    1 SIMAP similar gene for ADSSL1 using alignment to 4 protein entries:     PURA1_HUMAN (see all proteins):
    ADSS

    ADSSL1 for paralogs           About GeneDecksing



    Genomic Variants
    for ADSSL1 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

    10/494 NCBI SNPs in ADSSL1 are shown (see all 494)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs572024561,2
    		C,--85385704(+) CTGGAG/AAAGTC 1 -- ut312Minor allele frequency- A:0.04WA 120
    rs346429941,2
    		C,F,--85385930(+) TTGTCG/AGTTTC 1 -- ut318Minor allele frequency- A:0.17NA WA CSA 250
    rs765577821,2
    		--85386044(+) GACACC/TCCCAG 1 -- ds50012Minor allele frequency- T:0.08CSA WA 120
    rs348770771,2
    		C,F,--85386116(+) CAGAGC/TCCTCC 1 -- ds50017Minor allele frequency- T:0.17NA WA CSA 248
    rs349465221,2
    		C,--85386406(+) GGTCA-/GGTGCC 1 -- ds50010--------
    rs1394650221,2
    		--105188544(+) GACTGC/TTTTTA 1 -- us2k10--------
    rs1496662551,2
    		--105188572(+) TGCCCC/GTACCC 1 -- us2k10--------
    rs1466480181,2
    		--105188642(+) TCTGCA/GGGGTC 1 -- us2k10--------
    rs1827576191,2
    		--105188700(+) CAAGCC/TTCTAT 1 -- us2k10--------
    rs124333501,2
    		C,F,A,H,--105189056(+) AGCTGA/GGGCCG 1 -- us2k112Minor allele frequency- G:0.45NA WA CSA EA 554

    HapMap Linkage Disequilibrium report for ADSSL1 (105190523 - 105213662 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for ADSSL1
         7 CNVs: 29963 49291 29962 53213 29964 53064 59556

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ADSSL1
    DNA2.0 Custom Variant and Variant Library Synthesis for ADSSL1

    Disorders / Diseases
    for ADSSL1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ADSSL1 for disorders           About GeneDecksing

    OMIM gene information: 612498    OMIM disorders: --

    6 diseases for ADSSL1:    About MalaCards
    lung adenocarcinoma    adenocarcinoma    pneumonia    tuberculosis
    malaria    mycobacterium tuberculosis

    Human Genome Epidemiology (HuGE) Navigator: ADSSL1 (1 document)

    Export disorders for ADSSL1 gene to outside databases

    Publications
    for ADSSL1 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 ADSSL1 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with ADSSL1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells. (PubMed id 15786719)1, 2, 9 Sun H....Cao X. (2005)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (2006)
    5. How many drug targets are there? (PubMed id 17139284)7 Overington J.P....Hopkins A.L. (2006)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    7. Recombinant mouse muscle adenylosuccinate synthetase: overexpression, kinetics, and crystal structure. (PubMed id 11560929)1 Iancu C.V....Honzatko R.B. (2001)
    8. The Protein Data Bank. (PubMed id 10592235)7 Berman H.M....Bourne P.E. (2000)
    9. De novo purine nucleotide biosynthesis. (PubMed id 1574589)1 Zalkin H. and Dixon J.E. (1992)
    10. Adenylosuccinate synthetase 1 gene is a novel target of deletion in lung adenocarcinoma. (PubMed id 19603421)9 Miller J.C....Herzog C.R. (2009)

    External Searches for ADSSL1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ADSSL1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 122622 HGNC: 20093 AceView: ADSSL1 Ensembl:ENSG00000185100 euGenes: HUgn122622
    ECgene: ADSSL1 Kegg: 122622 H-InvDB: ADSSL1

    Other Databases showing ADSSL1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ADSSL1 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
    NameDescription
    PharmGKB entry for ADSSL1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ADSSL1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ADSSL1 gene:
    Search GeneIP for patents involving ADSSL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
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    About This Section

     
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