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

ASPDH Gene

protein-coding   GIFtS: 36
GCID: GC19M051014

aspartate dehydrogenase domain containing

  Search for ASPDH
in our new
 Human Malady Compendium 
Biological research products
for ASPDH
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Aspartate Dehydrogenase Domain Containing1 2
Aspartate Dehydrogenase Domain-Containing Protein2 3
Putative L-Aspartate Dehydrogenase2
EC 1.4.1.213

External Ids:    HGNC: 338561   Entrez Gene: 5542352   Ensembl: ENSG000002046537   UniProtKB: A6ND913   

Export aliases for ASPDH gene to outside databases

Previous GC identifers: GC19M055710 GC19M047351


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

UniProtKB/Swiss-Prot: ASPD_HUMAN, A6ND91
Function: Specifically catalyzes the NAD or NADP-dependent dehydrogenation of L-aspartate to iminoaspartate (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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ASPDH gene promoter:
         PPAR-alpha   Pax-5   ZIC2/Zic2   ATF   Egr-4   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ASPDH

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


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

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M051014:  view genomic region     (about GC identifiers)

Start:
51,014,857 bp from pter      End:
51,017,947 bp from pter
Size:
3,091 bases      Orientation:
minus strand

(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: ASPD_HUMAN, A6ND91 (See protein sequence)
Recommended Name: Putative L-aspartate dehydrogenase  
Size: 283 amino acids; 29946 Da
Miscellaneous: The iminoaspartate product is unstable in aqueous solution and can decompose to oxaloacetate and ammonia
(By similarity)
Secondary accessions: Q6NZ37
Alternative splicing: 2 isoforms:  A6ND91-1   A6ND91-2   

Explore the universe of human proteins at neXtProt for ASPDH: NX_A6ND91

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_A6ND91

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001019827.2  NP_001108070.1  

    ENSEMBL proteins: 
     ENSP00000366114   ENSP00000373860  

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

    ASPDH for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR011182 Asp_DH_NAD_syn
     IPR005106 Asp/hSer_DH_NAD-bd
     IPR016040 NAD(P)-bd_dom
     IPR002811 Asp_DH

    Graphical View of Domain Structure for InterPro Entry A6ND91

    ProtoNet protein and cluster: A6ND91

    UniProtKB/Swiss-Prot: ASPD_HUMAN, A6ND91
    Similarity: Belongs to the L-aspartate dehydrogenase family


    (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: ASPD_HUMAN, A6ND91
    Function: Specifically catalyzes the NAD or NADP-dependent dehydrogenation of L-aspartate to iminoaspartate (By
    similarity)
    Catalytic activity: L-aspartate + H(2)O + NAD(P)(+) = oxaloacetate + NH(3) + NAD(P)H

    Enzyme Number (IUBMB): EC 1.4.1.211

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0033735aspartate dehydrogenase activity IEA--
    GO:0050661NADP binding IEA--


    ASPDH for ontologies           About GeneDecksing



    (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



    UniProtKB/Swiss-Prot: ASPD_HUMAN, A6ND91
    Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; iminoaspartate from L-aspartate (dehydrogenase route): step 1/1

    Interactions:

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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006742NADP catabolic process IEA--
    GO:0009435NAD biosynthetic process IEA--


    ASPDH for ontologies           About GeneDecksing



    (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 ASPDH

    3 HMDB Compounds for ASPDH    About this table
    CompoundSynonyms CAS #PubMed Ids
    Iminoaspartic acidIminoaspartate (see all 6)79067-61-1--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    Search CenterWatch for drugs/clinical trials and news about ASPDH / ASPD 

    (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,
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    About This Section

    REFSEQ mRNAs for ASPDH gene (2 alternative transcripts): 
    NM_001024656.2  NM_001114598.1  

    Unigene Cluster for ASPDH:

    Aspartate dehydrogenase domain containing
    Hs.436338  [show with all ESTs]
    Unigene Representative Sequence: NM_001114598
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376916(uc002psr.4) ENST00000389208(uc010enz.3)

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    Additional cDNA sequence: BC066359.1 

    4 DOTS entries:

    DT.86841248  DT.75101155  DT.97765924  DT.95096965 

    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

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

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

    About this image
    See ASPDH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASPDH

    SOURCE GeneReport for Unigene cluster: Hs.436338
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPDH

    (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 animals.

    Orthologs for ASPDH gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aspdh1 , 5 aspartate dehydrogenase domain containing1, 5 86.09(n)1
    89.21(a)1
      7 (28.83 cM)5
    683521  NM_026690.11  NP_080966.11 
     444653915 
    lizard
    (Anolis carolinensis)
    Reptilia ASPDH6
    --
    52(a)
    1 ↔ 1
    6(78875231-78881921)
    zebrafish
    (Danio rerio)
    Actinopterygii aspdh1 aspartate dehydrogenase domain containing 53.96(n)
    50.57(a)
      447919  NM_001004657.1  NP_001004657.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_F17C8.31 Protein F17C8.3 49.04(n)
    47.89(a)
      175623  NM_065570.5  NP_497971.2 


    ENSEMBL Gene Tree for ASPDH (if available)
    TreeFam Gene Tree for ASPDH (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, 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

    10/53 NCBI SNPs in ASPDH are shown (see all 53    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1407230661,2
    --51016833(+) ACAGTA/GGGGTG 2 -- int10--------
    rs1446588721,2
    --51016870(+) AGAGAC/TGGAGA 2 -- int10--------
    rs1478763131,2
    --51017051(+) ACCACA/GCCCAC 3 G int1 syn10--------
    rs771772541,2
    C,--51017063(+) CTCCAC/TGGGCC 3 P int1 syn10--------
    rs72482721,2
    C,F,--51017064(+) TCCACG/CGGCCC 3 /P /R mis1 int12Minor allele frequency- C:0.10WA EA 238
    rs1818145231,2
    --51017153(+) CAGCCA/GCTGCT 2 -- us2k1 int10--------
    rs17268241,2
    C,F,A,H,--51017325(+) TGGGAG/ACCCTG 2 -- us2k1 int114Minor allele frequency- A:0.21NA WA CSA EA 380
    rs350179731,2
    C,F,--51017377(+) CTGATG/ATGGAA 2 -- int1 us2k16Minor allele frequency- A:0.20NA WA EA 364
    rs1863783761,2
    C,--51017711(+) CCCTCC/TGCTCT 2 -- us2k1 int10--------
    rs16730231,2
    C,F,H,--51017726(-) AACTGA/GAGGAT 2 -- int1 us2k16Minor allele frequency- G:0.01NS NA 606

    HapMap Linkage Disequilibrium report for ASPDH (51014857 - 51017947 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ASPDH: --

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    (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
      --

    (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 ASPDH gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ASPDH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    2. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (2004)
    3. 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)
    4. 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)
    5. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
    6. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    (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: 554235 HGNC: 33856 Ensembl:ENSG00000204653 euGenes: HUgn554235 ECgene: ASPDH
    H-InvDB: ASPDH

    (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 ASPDH 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 ASPDH gene:
    Search GeneIP for patents involving ASPDH

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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