Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

AASDH Gene

protein-coding   GIFtS: 47
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

Aliases
Aminoadipate-Semialdehyde Dehydrogenase1 2 3     NRPS9982
Acyl-CoA Synthetase Family Member 41 2     Non-Ribosomal Peptide Synthetase 10982
ACSF42 3     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 and ATP binding.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_022853.15  NC_018915.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AASDH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q4L235

  • AASDH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AASDH Protein Expression
    REFSEQ proteins: NP_861522.2  
    ENSEMBL proteins: 
     ENSP00000423760   ENSP00000205214   ENSP00000427298   ENSP00000421658   ENSP00000421171  
     ENSP00000392158   ENSP00000409656   ENSP00000473564  

    Human Recombinant Protein Products for AASDH: 
    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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    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
    GenScript Custom Superior Antibodies 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 

    Assay Products for AASDH: 
    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
    HGNC Gene Families: 
    ACS: Acyl-CoA synthetase family

    5/7 InterPro protein domains (see all 7):
     IPR026897 ACSF4
     IPR018391 PQQ_beta_propeller_repeat
     IPR000873 AMP-dep_Synth/Lig
     IPR027295 Quinonprotein_ADH-like_fam
     IPR009081 Acyl_carrier_prot-like

    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for AASDH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AASDH
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate AASDH
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for AASDH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AASDH

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AASDH
    Sirion Biotech Customized adenovirus for overexpression of AASDH

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for AASDH (see all 7)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of AASDH 
                         Customized lentivirus expression plasmids for stable overexpression of AASDH 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for AASDH
    Search LifeMap BioReagents cell lines for AASDH
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AASDH


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

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

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 AASDH (ACSF4)

    10/44 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--

    Search CenterWatch for drugs/clinical trials and news about AASDH / ACSF4

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AASDH gene: 
    NM_181806.2  

    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:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AASDH
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate AASDH
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for AASDH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AASDH
    Clone
    Products:
         
    OriGene clones in human, mouse for AASDH (see all 7)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of AASDH 
                         Customized lentivirus expression plasmids for stable overexpression of AASDH 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for AASDH
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AASDH
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AASDH
      QIAGEN 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 

    24/88 AceView cDNA sequences (see all 88):

    CA843408 AA242893 AI291045 AI057495 CA389655 AA453778 BE222228 BF224143 
    AI138501 BU681512 BQ778385 CF528687 AA972283 BX116011 AI768136 CA412591 
    BF433048 AI192755 CA843659 AI278261 BM787517 AA251720 AA251083 AA312080 

    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™, 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

    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


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

    SOURCE GeneReport for Unigene cluster: Hs.104347

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

        SABiosciences Custom PCR Arrays for AASDH
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for AASDH
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AASDH
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AASDH
    QIAGEN 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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AASDH gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aasdh1 , 5 aminoadipate-semialdehyde dehydrogenase1, 5 77.48(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 66.15(n)
    58.97(a)
      422744  XM_420697.2  XP_420697.2 
    lizard
    (Anolis carolinensis)
    Reptilia AASDH6
    Uncharacterized protein
    56(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 52.31(n)
    46.8(a)
      570338  XM_693810.4  XP_698902.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta U261 CG13401-PA 41.51(n)
    32.17(a)
      34175  NM_135386.4  NP_609230.2 
    worm
    (Caenorhabditis elegans)
    Secernentea W09D6.16
    Protein W09D6.1, isoform b
    26(a)
    1 ↔ 1
    III(11068858-11072981)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G359301 AMP-dependent synthetase and ligase family protein 43.09(n)
    30.85(a)
      833582  NM_122984.3  NP_198442.2 
    rice
    (Oryza sativa)
    Liliopsida Os06g01116001 hypothetical protein 44.2(n)
    30.27(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
      --

    (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) 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

    10/1179 SNPs in AASDH are shown (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

    SABiosciences Cancer Mutation 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
    OMIM gene information: 614365    OMIM disorders: --

    2 diseases for AASDH:    About MalaCards
    pneumonia    tuberculosis


    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

    PubMed articles for AASDH gene, integrated from 9 sources (see all 11):
    (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. (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. (2007)
    3. Nutritional biochemistry: A new redox-cofactor vitamin for mammals. (PubMed id 12712191)1, 3 Kasahara T. and Kato T. (2003)
    4. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    7. 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 (2004)
    8. 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. (2004)
    9. 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)
    10. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1 Wiemann S.... Poustka A. (2001)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 132949 HGNC: 23993 AceView: NRPS998 Ensembl:ENSG00000157426 euGenes: HUgn132949
    ECgene: AASDH H-InvDB: AASDH

    (According to HUGE)
    About This Section
      --

    (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 AASDH Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     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   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     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  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AASDH
     QIAGEN SeqTarget long-range PCR primers for resequencing AASDH
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AASDH
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AASDH
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AASDH
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AASDH
     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 Superior Antibodies 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

     Regulatory tfbs in AASDH promoter
     Search Chromatin IP Primers for AASDH
     RT2 qPCR Primer Assay in human, mouse, rat AASDH
     Search GNC Networks for AASDH
     SABiosciences Custom PCR Arrays for AASDH
     Search Tocris compounds for AASDH (ACSF4)
     Browse Sino Biological Proteins and Antibodies
     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
     Search LifeMap BioReagents cell lines 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 - Custom generated mouse model solutions for AASDH
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AASDH
    Customized:
     lentivirus for stable overexpression of AASDH
     lentivirus expression plasmids for stable overexpression of AASDH
     adenovirus for overexpression of 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
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4