Aliases for ASPDH Gene

Aliases for ASPDH Gene

  • Aspartate Dehydrogenase Domain Containing 2 3 5
  • Aspartate Dehydrogenase Domain-Containing Protein 3 4
  • Putative L-Aspartate Dehydrogenase 3 4
  • EC 1.4.1.21 4
  • ASPDH 5

External Ids for ASPDH Gene

Previous GeneCards Identifiers for ASPDH Gene

  • GC19M055710
  • GC19M051014
  • GC19M047351

Summaries for ASPDH Gene

GeneCards Summary for ASPDH Gene

ASPDH (Aspartate Dehydrogenase Domain Containing) is a Protein Coding gene. Diseases associated with ASPDH include Cyclosporiasis. Among its related pathways are NAD metabolism and Biosynthesis of cofactors. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and aspartate dehydrogenase activity.

UniProtKB/Swiss-Prot Summary for ASPDH Gene

  • Specifically catalyzes the NAD or NADP-dependent dehydrogenation of L-aspartate to iminoaspartate.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASPDH Gene

Genomics for ASPDH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ASPDH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J050510 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 260.7 +2.2 2189 5 CHD2 TBP SP1 ZBTB10 CEBPA SIX5 NR2C1 MNT DEK BRCA1 ASPDH JOSD2 HSALNG0127111 lnc-ASPDH-1 SHANK1 SYT3 ENSG00000267890 NR1H2 RRAS PRR12
GH19J050515 Promoter/Enhancer 0.6 Ensembl dbSUPER 256.3 -0.6 -611 0.2 HIC1 ASPDH HSALNG0127112 lnc-JOSD2-1 HSALNG0127110 piR-34822-165 LRRC4B
GH19J050555 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 16.5 -41.9 -41898 1.5 ZBTB10 MNT IKZF1 ZNF217 CTCF ZIC2 SIN3A REST ZNF740 VEZF1 ENSG00000268231 ASPDH JOSD2 PTOV1 C19orf48 LINC01869 SNORD88C KLK4 SYT3 ACP4
GH19J050552 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 -36.2 -36227 2.2 ZNF740 VEZF1 EGR1 ZNF148 ZNF398 ZMYM3 EGR2 PATZ1 KDM1A POLR2A HSALNG0127113 JOSD2 ASPDH C19orf48 LINC01869 SNORD88C LRRC4B piR-34822-165
GH19J050475 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 7.4 +38.0 37997 2.6 TBP SP1 IKZF1 SMAD5 MBD2 ZNF217 POLR2A BRCA1 BHLHE40 ZEB1 EMC10 FAM71E1 HSALNG0127105 lnc-JOSD2-4 ASPDH
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASPDH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASPDH

Top Transcription factor binding sites by QIAGEN in the ASPDH gene promoter:
  • ATF
  • Egr-4
  • Pax-5
  • PPAR-alpha
  • ZIC2

Genomic Locations for ASPDH Gene

Latest Assembly
chr19:50,511,600-50,514,690
(GRCh38/hg38)
Size:
3,091 bases
Orientation:
Minus strand

Previous Assembly
chr19:51,014,860-51,017,941
(GRCh37/hg19 by Entrez Gene)
Size:
3,082 bases
Orientation:
Minus strand

chr19:51,014,857-51,017,947
(GRCh37/hg19 by Ensembl)
Size:
3,091 bases
Orientation:
Minus strand

Genomic View for ASPDH Gene

Genes around ASPDH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ASPDH Gene

Proteins for ASPDH Gene

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

    Protein Symbol:
    A6ND91-ASPD_HUMAN
    Recommended name:
    Putative L-aspartate dehydrogenase
    Protein Accession:
    A6ND91
    Secondary Accessions:
    • Q6NZ37

    Protein attributes for ASPDH Gene

    Size:
    283 amino acids
    Molecular mass:
    29946 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The iminoaspartate product is unstable in aqueous solution and can decompose to oxaloacetate and ammonia.

    Alternative splice isoforms for ASPDH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASPDH Gene

Post-translational modifications for ASPDH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASPDH Gene

No data available for DME Specific Peptides for ASPDH Gene

Domains & Families for ASPDH Gene

Gene Families for ASPDH Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ASPDH Gene

Suggested Antigen Peptide Sequences for ASPDH Gene

GenScript: Design optimal peptide antigens:
  • Aspartate dehydrogenase domain-containing protein (ASPD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A6ND91

UniProtKB/Swiss-Prot:

ASPD_HUMAN :
  • Belongs to the L-aspartate dehydrogenase family.
Family:
  • Belongs to the L-aspartate dehydrogenase family.
genes like me logo Genes that share domains with ASPDH: view

Function for ASPDH Gene

Molecular function for ASPDH Gene

UniProtKB/Swiss-Prot Function:
Specifically catalyzes the NAD or NADP-dependent dehydrogenation of L-aspartate to iminoaspartate.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + L-aspartate + NADP(+) = H(+) + NADPH + NH4(+) + oxaloacetate; Xref=Rhea:RHEA:11784, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16452, ChEBI:CHEBI:28938, ChEBI:CHEBI:29991, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.4.1.21;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + L-aspartate + NAD(+) = H(+) + NADH + NH4(+) + oxaloacetate; Xref=Rhea:RHEA:11788, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16452, ChEBI:CHEBI:28938, ChEBI:CHEBI:29991, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.4.1.21;.

Enzyme Numbers (IUBMB) for ASPDH Gene

Phenotypes From GWAS Catalog for ASPDH Gene

Gene Ontology (GO) - Molecular Function for ASPDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
GO:0033735 aspartate dehydrogenase activity IEA --
GO:0050661 NADP binding IEA --
genes like me logo Genes that share ontologies with ASPDH: view

Phenotypes for ASPDH Gene

GenomeRNAi human phenotypes for ASPDH:
genes like me logo Genes that share phenotypes with ASPDH: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASPDH

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ASPDH Gene

Localization for ASPDH Gene

Subcellular locations from

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ASPDH Gene

Pathways & Interactions for ASPDH Gene

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

Pathways by source for ASPDH Gene

UniProtKB/Swiss-Prot A6ND91-ASPD_HUMAN

  • Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; iminoaspartate from L-aspartate (dehydrogenase route): step 1/1.

Gene Ontology (GO) - Biological Process for ASPDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009435 NAD biosynthetic process IEA --
GO:0019363 pyridine nucleotide biosynthetic process IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ASPDH: view

No data available for SIGNOR curated interactions for ASPDH Gene

Drugs & Compounds for ASPDH Gene

(5) Drugs for ASPDH Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ammonia Approved Pharma 0
Water Approved Pharma 0
Aspartic acid Approved Nutra 193
NAD Experimental Pharma 0
NADP Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Iminoaspartic acid
  • Iminoaspartate
  • Iminosuccinate
  • Iminosuccinic acid
  • alpha-Iminosuccinate
  • Imino-butanedioate
79067-61-1
Oxalacetic acid
  • 2-Oxobutanedioic acid
  • 2-Oxosuccinic acid
  • 3-Carboxy-3-oxopropanoic acid
  • Keto-succinic acid
  • Ketosuccinic acid
328-42-7
genes like me logo Genes that share compounds with ASPDH: view

Transcripts for ASPDH Gene

mRNA/cDNA for ASPDH Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASPDH

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

No ASD Table

Relevant External Links for ASPDH Gene

GeneLoc Exon Structure for
ASPDH

Expression for ASPDH Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x12.3).

Protein differential expression in normal tissues from HIPED for ASPDH Gene

This gene is overexpressed in Gallbladder (12.8), Nasal epithelium (9.7), Monocytes (8.4), Neutrophil (8.1), Esophagus (7.4), and Liver, secretome (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASPDH Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASPDH

SOURCE GeneReport for Unigene cluster for ASPDH Gene:

Hs.436338

Evidence on tissue expression from TISSUES for ASPDH Gene

  • Liver(4.3)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with ASPDH: view

Primer products for research

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASPDH Gene

Orthologs for ASPDH Gene

This gene was present in the common ancestor of animals.

Orthologs for ASPDH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ASPDH 30 31
  • 99.53 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ASPDH 30 31
  • 87.43 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Aspdh 30 17 31
  • 86.09 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ASPDH 31
  • 85 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Aspdh 30
  • 84.69 (n)
Lizard
(Anolis carolinensis)
Reptilia ASPDH 31
  • 53 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii aspdh 30 31
  • 53.33 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea CELE_F17C8.9 30
  • 49.04 (n)
F17C8.9 31
  • 45 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToOne
Species where no ortholog for ASPDH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for ASPDH Gene

ENSEMBL:
Gene Tree for ASPDH (if available)
TreeFam:
Gene Tree for ASPDH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASPDH: view image

Paralogs for ASPDH Gene

No data available for Paralogs for ASPDH Gene

Variants for ASPDH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASPDH Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs12977172 - p.Gln266Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASPDH Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv1133010 OTHER inversion 24896259
nsv1140251 OTHER inversion 24896259
nsv1152956 OTHER inversion 26484159
nsv509750 CNV insertion 20534489
nsv953604 CNV deletion 24416366

Variation tolerance for ASPDH Gene

Residual Variation Intolerance Score: 61.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.77; 58.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASPDH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASPDH

SNP Genotyping and Copy Number Assays for research

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

Disorders for ASPDH Gene

MalaCards: The human disease database

(1) MalaCards diseases for ASPDH Gene - From: COP

Disorder Aliases PubMed IDs
cyclosporiasis
  • cyclospora infection
- elite association - COSMIC cancer census association via MalaCards
Search ASPDH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASPDH

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ASPDH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASPDH Gene

Publications for ASPDH Gene

  1. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P … Vidal M (Genomics 2007) 3

Products for ASPDH Gene

Sources for ASPDH Gene