Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



AASDH Gene

protein-coding   GIFtS: 49
GCID: GC04M057204

Aminoadipate-Semialdehyde Dehydrogenase

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Aminoadipate-Semialdehyde Dehydrogenase1 2 3     NRPS9982
ACSF42 3 5     Non-Ribosomal Peptide Synthetase 10982
Acyl-CoA Synthetase Family Member 41 2     Non-Ribosomal Peptide Synthetase 9982
2-Aminoadipic 6-Semialdehyde Dehydrogenase2     EC 6.2.1.-3
LYS22     U263
NRPS10982     Protein NRPS9983

External Ids:    HGNC: 239931   Entrez Gene: 1329492   Ensembl: ENSG000001574267   OMIM: 6143655   UniProtKB: Q4L2353   

Export aliases for AASDH gene to outside databases

Previous GC identifers: GC04M057046 GC04M056899 GC04M053158


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

GeneCards Summary for AASDH Gene:
AASDH (aminoadipate-semialdehyde dehydrogenase) is a protein-coding gene. Diseases associated with AASDH include pneumonia, and tuberculosis. GO annotations related to this gene include acid-thiol ligase activity.

UniProtKB/Swiss-Prot: ACSF4_HUMAN, Q4L235
Function: Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with
CoA (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000004.12  NT_022853.16  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AASDH gene promoter:
         HOXA9B   HOXA9   HFH-3   Tal-1beta   Meis-1b   FOXI1   POU2F1   POU2F1a   ITF-2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAASDH promoter sequence
   Search Chromatin IP Primers for AASDH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AASDH


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

Entrez Gene cytogenetic band: 4q12   Ensembl cytogenetic band:  4q12   HGNC cytogenetic band: 4q12

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M057204:  view genomic region     (about GC identifiers)

Start:
57,204,456 bp from pter      End:
57,253,666 bp from pter
Size:
49,211 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: ACSF4_HUMAN, Q4L235 (See protein sequence)
Recommended Name: Acyl-CoA synthetase family member 4  
Size: 1098 amino acids; 122597 Da
Sequence caution: Sequence=CAH56482.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A5D8V3 A5PL22 Q63HK2 Q63HR7 Q6IPP8 Q6TFZ6 Q7Z5Y3 Q96BW4 Q9P064
Alternative splicing: 4 isoforms:  Q4L235-1   Q4L235-2   Q4L235-3   Q4L235-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AASDH: NX_Q4L235

Explore proteomics data for AASDH at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AASDH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001273597.1  NP_001273598.1  NP_001273599.1  NP_001273600.1  NP_001273601.1  NP_861522.2  

    ENSEMBL proteins: 
     ENSP00000423760   ENSP00000205214   ENSP00000427298   ENSP00000421658   ENSP00000421171  
     ENSP00000392158   ENSP00000409656   ENSP00000473564  

    AASDH Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for AASDH
    OriGene Protein Over-expression Lysate for AASDH
    OriGene Custom MassSpec
    OriGene Custom Protein Services for AASDH
    GenScript Custom Purified and Recombinant Proteins Services for AASDH
    Novus Biologicals AASDH Protein
    Novus Biologicals AASDH Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AASDH

    AASDH Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for AASDH
    Novus Biologicals AASDH Antibodies
    Abcam antibodies for AASDH
    Cloud-Clone Corp. Antibodies for AASDH
    Search ThermoFisher Antibodies for AASDH
    LSBio Antibodies in human, mouse, rat for AASDH

    AASDH Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for AASDH
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for AASDH
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for AASDH
    Cloud-Clone Corp. CLIAs for AASDH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    ACS: Acyl-CoA synthetase family

    Selected InterPro protein domains (see all 6):
     IPR018391 PQQ_beta_propeller_repeat
     IPR000873 AMP-dep_Synth/Lig
     IPR027295 Quinonprotein_ADH-like_fam
     IPR009081 Acyl_carrier_prot-like
     IPR020845 AMP-binding_CS

    Graphical View of Domain Structure for InterPro Entry Q4L235

    ProtoNet protein and cluster: Q4L235

    2 Blocks protein domains:
    IPB000873 AMP-binding signature
    IPB002372 Bacterial quinoprotein


    UniProtKB/Swiss-Prot: ACSF4_HUMAN, Q4L235
    Similarity: Belongs to the ATP-dependent AMP-binding enzyme family
    Similarity: Contains 1 acyl carrier domain


    AASDH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACSF4_HUMAN, Q4L235
    Function: Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with
    CoA (By similarity)

         Enzyme Number (IUBMB): EC 6.2.1.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005524ATP binding IEA--
    GO:0016878acid-thiol ligase activity ISS--
         
    AASDH for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AASDH
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AASDH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AASDH
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AASDH

    miRNA
    Products:
        
    miRTarBase miRNAs that target AASDH:
    hsa-mir-10b-5p (MIRT047487)

    Block miRNA regulation of human, mouse, rat AASDH using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate AASDH
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AASDH
    Predesigned siRNA for gene silencing in human, mouse, rat AASDH

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AASDH

    Clone
    Products:
         
    OriGene clones in human, mouse for AASDH (see all 6)
    OriGene ORF clones in mouse, rat for AASDH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: AASDH (NM_015423)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AASDH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AASDH

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for AASDH
    Browse ESI BIO Cell Lines and PureStem Progenitors for AASDH 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AASDH


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    peroxisome1
    plasma membrane1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AASDH
    Interactions:

        Search GeneGlobe Interaction Network for AASDH

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

    Selected Interacting proteins for AASDH (ENSP000002052144) via UniProtKB, MINT, STRING, and/or I2D (see all 102)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AASDHPPTENSP000002786184STRING: ENSP00000278618
    SAMM50ENSP000003454454STRING: ENSP00000345445
    CADENSP000002647054STRING: ENSP00000264705
    CBX5ENSP000002098754STRING: ENSP00000209875
    CBX8ENSP000002693854STRING: ENSP00000269385
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006631fatty acid metabolic process ISS--
    GO:0008152metabolic process ----

    AASDH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AASDH (ACSF4)

    Selected HMDB Compounds for AASDH (see all 44)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Acrylyl-CoAAcryloyl coenzyme A (see all 14)5776-58-9--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for AASDH gene (6 alternative transcripts): 
    NM_001286668.1  NM_001286669.1  NM_001286670.1  NM_001286671.1  NM_001286672.1  NM_181806.3  

    Unigene Cluster for AASDH:

    Aminoadipate-semialdehyde dehydrogenase
    Hs.104347  [show with all ESTs]
    Unigene Representative Sequence: BX640635
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000513376(uc010ihb.3) ENST00000205214(uc003hbn.3 uc003hbo.3 uc011caa.2 uc011cab.2 uc010ihc.3)
    ENST00000514745 ENST00000503808 ENST00000502617(uc003hbp.3) ENST00000510762
    ENST00000510012(uc003hbq.1) ENST00000514796 ENST00000434343 ENST00000451613
    ENST00000602986
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat AASDH using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate AASDH
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for AASDH
    Predesigned siRNA for gene silencing in human, mouse, rat AASDH
    Clone
    Products:
         
    OriGene clones in human, mouse for AASDH (see all 6)
    OriGene ORF clones in mouse, rat for AASDH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: AASDH (NM_015423)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AASDH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AASDH
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for AASDH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AASDH
      QuantiTect SYBR Green Assays in human, mouse, rat AASDH
      QuantiFast Probe-based Assays in human, mouse, rat AASDH

    Additional mRNA sequence: 

    AF161436.1 AF516672.1 AK294332.1 AK303733.1 AK304309.1 AK316296.1 AY314787.1 AY422212.1 
    BC071815.1 BC141824.1 BC142709.1 BX640635.1 BX648853.1 

    8 DOTS entries:

    DT.102840635  DT.204921  DT.409599  DT.100020415  DT.91845353  DT.97802636  DT.99990104  DT.91995962 

    Selected AceView cDNA sequences (see all 88):

    AI138501 CA389655 BE222228 BC015096 AI498469 BM787517 AI291045 AA251083 
    BQ778385 CA843659 AI192755 AA251720 CA412591 BF433048 BU681512 BM142306 
    AI278261 NM_181806 AI768136 AI863222 AA972283 AA312080 AA453778 CA843408 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    AASDH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGACTTATT
    AASDH Expression
    About this image

    AASDH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AASDH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.104347

    UniProtKB/Swiss-Prot: ACSF4_HUMAN, Q4L235
    Tissue specificity: Ubiquitously expressed in adult tissues

        Custom PCR Arrays for AASDH
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for AASDH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AASDH
    QuantiTect SYBR Green Assays in human, mouse, rat AASDH
    QuantiFast Probe-based Assays in human, mouse, rat AASDH
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AASDH

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AASDH gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aasdh1 , 5 aminoadipate-semialdehyde dehydrogenase1, 5 77.64(n)1
    73.24(a)1
      5 (41.45 cM)5
    2313261  NM_173765.31  NP_776126.11 
     768736595 
    chicken
    (Gallus gallus)
    Aves AASDH1 aminoadipate-semialdehyde dehydrogenase 66.18(n)
    58.88(a)
      422744  XM_420697.3  XP_420697.2 
    lizard
    (Anolis carolinensis)
    Reptilia AASDH6
    aminoadipate-semialdehyde dehydrogenase
    57(a)
    1 ↔ 1
    5(105307390-105335455)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.30732 Xenopus laevis transcribed sequence with weak similarity more 71.73(n)    48044799 
    zebrafish
    (Danio rerio)
    Actinopterygii aasdh1 aminoadipate-semialdehyde dehydrogenase 52.34(n)
    47.09(a)
      570338  XM_693810.5  XP_698902.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta U261 U26 44.11(n)
    34.38(a)
      34175  NM_135386.4  NP_609230.2 
    worm
    (Caenorhabditis elegans)
    Secernentea Y66D12A.146
    C41A3.16
    (see all 3)
    Protein C41A3.1 (C41A3.1) mRNA, complete cds
    (see all 3)
    8(a)
    2(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    III(11534674-11546709) WBGene00013440
    X(5413810-5441955) WBGene00016558
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G359301 AT5G35930 43.55(n)
    31.77(a)
      833582  NM_122984.3  NP_198442.2 
    rice
    (Oryza sativa)
    Liliopsida Os06g01116001 Os06g0111600 45.11(n)
    31.29(a)
      4339893  NM_001063122.1  NP_001056587.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for AASDH (see all 1179)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs747864181,2
    C,F--57203986(+) TTGCAC/TGCTGG 1 -- ds50011Minor allele frequency- T:0.09WA 118
    rs1452524661,2
    --57203998(+) GACCCA/CGGAGA 1 -- ds50010--------
    rs1449324001,2
    C--57204003(+) AGGAGA/CGTGGT 1 -- ds50010--------
    rs1421019101,2
    C--57204054(+) GAGCA-/GATGATGG 1 -- cds10--------
    rs560957721,2
    C--57204073(+) CAGCAA/GGAAGA 1 -- ds50010--------
    rs1501444531,2
    C--57204075(+) CAAGA-/AGAC  
            
    AGACA
    1 -- ds50010--------
    rs1886821841,2
    C--57204135(+) TGAACA/GATGCC 1 -- ds50010--------
    rs1490596951,2
    --57204156(+) GCACAC/TTGGTG 1 -- ds50010--------
    rs1927003211,2
    --57204245(+) AACCCA/GGAAAT 1 -- ds50010--------
    rs1841337481,2
    --57204321(+) TTAACC/GATCAC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for AASDH (57204456 - 57253666 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for AASDH:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv829940CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AASDH
    DNA2.0 Custom Variant and Variant Library Synthesis for AASDH

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

    TryGeneCards Plus
    OMIM gene information: 614365    OMIM disorders: --

    3 diseases for AASDH:    About MalaCards
    pneumonia    tuberculosis    malaria


    AASDH for disorders           About GeneDecksing


    Export disorders for AASDH gene to outside databases

    (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

    TryGeneCards Plus

    PubMed articles for AASDH gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with AASDH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a novel human homolog of mouse U26, a putative PQQ-dependent AAS dehydrogenase. (PubMed id 15865210)1, 2, 3, 9 Wang L.... Mao Y. (Mol. Biol. Rep. 2005)
    2. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome. (PubMed id 17762044)1, 3 Watkins P.A.... Pevsner J. (J. Lipid Res. 2007)
    3. Nutritional biochemistry: A new redox-cofactor vitamin for mammals. (PubMed id 12712191)1, 3 Kasahara T. and Kato T. (Nature 2003)
    4. Vertebrate AcylA CoA synthetase family memberA 4 (ACSF4-U26) is a I^-alanine-activating enzyme homologous to bacterial non-ribosomal peptide synthetase. (PubMed id 24467666)1 Drozak J....Van Schaftingen E. (FEBS J. 2014)
    5. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    8. SMART amplification combined with cDNA size fractionation in order to obtain large full-length clones. (PubMed id 15198809)1 Wellenreuther R....The German cDNA Consortium (BMC Genomics 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 132949 HGNC: 23993 AceView: NRPS998 Ensembl:ENSG00000157426 euGenes: HUgn132949
    ECgene: AASDH H-InvDB: AASDH

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for AASDH Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for AASDH gene:
    Search GeneIP for patents involving AASDH

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for AASDH  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for AASDH  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for AASDH  
     OriGene qSTAR qPCR primer pairs in human, mouse for AASDH   OriGene Purified Protein for AASDH  
     OriGene ORF clones in mouse, rat for AASDH   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for AASDH   OriGene Custom Protein Services for AASDH  

     
     
     Block miRNA regulation of human, mouse, rat AASDH using miScript Target Protectors SeqTarget long-range PCR primers for resequencing AASDH
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AASDH Predesigned siRNA for gene silencing in human, mouse, rat AASDH
     QuantiFast Probe-based Assays in human, mouse, rat AASDH QuantiTect SYBR Green Assays in human, mouse, rat AASDH
     Custom PCR Arrays for AASDH Search Chromatin IP Primers for AASDH
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AASDH  Search GeneGlobe Interaction Network for AASDH
     Regulatory tfbs in AASDH promoter
     GenScript Custom Purified and Recombinant Proteins Services for AASDH GenScript cDNA clones with any tag delivered in your preferred vector for AASDH
     GenScript Custom Assay Services for AASDH GenScript Custom overexpressing Cell Line Services for AASDH
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for AASDH (ACSF4)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     AASDH antibodies
     AASDH proteins
     AASDH lysates
     Antibodies for AASDH
     See all of Abcam's Antibodies, Kits and Proteins for AASDH
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for AASDH
     Antibodies for AASDH
     ELISAs for AASDH
     CLIAs for AASDH



     Browse ESI BIO Cell Lines and PureStem Progenitors for AASDH
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AASDH
     Browse SwitchGear 3'UTR luciferase reporter plasmids for AASDH
     SwitchGear Promoter luciferase reporter plasmids for AASDH
     Search ThermoFisher Antibodies for AASDH
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AASDH
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AASDH
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AASDH
     LSBio Antibodies in human, mouse, rat for AASDH
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      AASDH gene at Home site.
    Version: 3.12.136 22 July 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4