This gene encodes a member of the non-ribosome peptide syntesase (NRPS) enzyme family. The encoded protein contains an AMP-binding domain, PP-binding (phosphopantetheine, or pantetheine 4'phosphate-binding) domain and the Pyrrolo-quinoline quinon (PQQ) binding domain. The protein is expressed in several adult tissues. [provided by RefSeq, Apr 2016] See more...

Aliases for AASDH Gene

Aliases for AASDH Gene

  • Aminoadipate-Semialdehyde Dehydrogenase 2 3 5
  • Acyl-CoA Synthetase Family Member 4 2 3 4
  • Beta-Alanine-Activating Enzyme 2 3 4
  • ACSF4 2 3 4
  • NRPS998 2 3
  • LYS2 2 3
  • 2-Aminoadipic 6-Semialdehyde Dehydrogenase 3
  • Non-Ribosomal Peptide Synthetase 1098 3
  • Non-Ribosomal Peptide Synthetase 998 3
  • Protein NRPS998 4
  • EC 6.2.1.- 4
  • NRPS1098 3
  • AASDH 5
  • U26 4

External Ids for AASDH Gene

Previous GeneCards Identifiers for AASDH Gene

  • GC04M057046
  • GC04M056899
  • GC04M057204
  • GC04M053158

Summaries for AASDH Gene

Entrez Gene Summary for AASDH Gene

  • This gene encodes a member of the non-ribosome peptide syntesase (NRPS) enzyme family. The encoded protein contains an AMP-binding domain, PP-binding (phosphopantetheine, or pantetheine 4'phosphate-binding) domain and the Pyrrolo-quinoline quinon (PQQ) binding domain. The protein is expressed in several adult tissues. [provided by RefSeq, Apr 2016]

GeneCards Summary for AASDH Gene

AASDH (Aminoadipate-Semialdehyde Dehydrogenase) is a Protein Coding gene. Diseases associated with AASDH include Hyperprolinemia, Type Ii and Hyperlysinemia, Type I. Gene Ontology (GO) annotations related to this gene include acid-thiol ligase activity. An important paralog of this gene is ACSF3.

UniProtKB/Swiss-Prot Summary for AASDH Gene

  • Covalently binds beta-alanine in an ATP-dependent manner to form a thioester bond with its phosphopantetheine group and transfers it to an, as yet, unknown acceptor. May be required for a post-translational protein modification or for post-transcriptional modification of an RNA.

Additional gene information for AASDH Gene

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

Genomics for AASDH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AASDH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the AASDH gene promoter:
  • FOXI1
  • HFH-3
  • HOXA9
  • HOXA9B
  • ITF-2
  • Meis-1
  • Meis-1b
  • POU2F1
  • POU2F1a
  • Tal-1beta

Genomic Locations for AASDH Gene

Genomic Locations for AASDH Gene
chr4:56,337,687-56,389,418
(GRCh38/hg38)
Size:
51,732 bases
Orientation:
Minus strand
chr4:57,204,456-57,253,666
(GRCh37/hg19)
Size:
49,211 bases
Orientation:
Minus strand

Genomic View for AASDH Gene

Genes around AASDH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AASDH Gene

Proteins for AASDH Gene

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

    Protein Symbol:
    Q4L235-ACSF4_HUMAN
    Recommended name:
    Beta-alanine-activating enzyme
    Protein Accession:
    Q4L235
    Secondary Accessions:
    • A5D8V3
    • A5PL22
    • Q63HK2
    • Q63HR7
    • Q6IPP8
    • Q6TFZ6
    • Q7Z5Y3
    • Q96BW4
    • Q9P064

    Protein attributes for AASDH Gene

    Size:
    1098 amino acids
    Molecular mass:
    122597 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAH56482.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for AASDH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AASDH Gene

Post-translational modifications for AASDH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AASDH Gene

Domains & Families for AASDH Gene

Gene Families for AASDH Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for AASDH Gene

GenScript: Design optimal peptide antigens:
  • Protein NRPS998 (ACSF4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q4L235

UniProtKB/Swiss-Prot:

ACSF4_HUMAN :
  • Belongs to the ATP-dependent AMP-binding enzyme family.
Family:
  • Belongs to the ATP-dependent AMP-binding enzyme family.
genes like me logo Genes that share domains with AASDH: view

Function for AASDH Gene

Molecular function for AASDH Gene

UniProtKB/Swiss-Prot Function:
Covalently binds beta-alanine in an ATP-dependent manner to form a thioester bond with its phosphopantetheine group and transfers it to an, as yet, unknown acceptor. May be required for a post-translational protein modification or for post-transcriptional modification of an RNA.

Enzyme Numbers (IUBMB) for AASDH Gene

Phenotypes From GWAS Catalog for AASDH Gene

Gene Ontology (GO) - Molecular Function for AASDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IEA --
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with AASDH: view
genes like me logo Genes that share phenotypes with AASDH: view

Animal Model Products

  • Taconic Biosciences Mouse Models for AASDH

CRISPR Products

Inhibitory RNA Products

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

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

Localization for AASDH 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 AASDH gene
Compartment Confidence
nucleus 3
cytosol 3
mitochondrion 1
peroxisome 1
plasma membrane 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for AASDH Gene

Pathways & Interactions for AASDH Gene

PathCards logo

SuperPathways for AASDH Gene

No Data Available

Gene Ontology (GO) - Biological Process for AASDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process ISS --
GO:0019482 beta-alanine metabolic process IEA --
GO:0043041 amino acid activation for nonribosomal peptide biosynthetic process IEA --
genes like me logo Genes that share ontologies with AASDH: view

No data available for Pathways by source and SIGNOR curated interactions for AASDH Gene

Drugs & Compounds for AASDH Gene

(11) Drugs for AASDH Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
NADH Approved Nutra 0
Allysine Experimental Pharma 0

(33) Additional Compounds for AASDH Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4
genes like me logo Genes that share compounds with AASDH: view

Transcripts for AASDH Gene

mRNA/cDNA for AASDH Gene

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

CRISPR Products

Inhibitory RNA Products

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

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

No ASD Table

Relevant External Links for AASDH Gene

GeneLoc Exon Structure for
AASDH

Expression for AASDH Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Spleen (Hematopoietic System)

Protein differential expression in normal tissues from HIPED for AASDH Gene

This gene is overexpressed in Heart (50.5) and Plasma (13.5).

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



Protein tissue co-expression partners for AASDH Gene

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

SOURCE GeneReport for Unigene cluster for AASDH Gene:

Hs.104347

mRNA Expression by UniProt/SwissProt for AASDH Gene:

Q4L235-ACSF4_HUMAN
Tissue specificity: Ubiquitously expressed in adult tissues.

Evidence on tissue expression from TISSUES for AASDH Gene

  • Liver(4.4)
  • Nervous system(4.4)
  • Intestine(4.2)
  • Blood(4.2)
genes like me logo Genes that share expression patterns with AASDH: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for AASDH Gene

Orthologs for AASDH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AASDH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AASDH 30 31
  • 99.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AASDH 30 31
  • 89.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AASDH 30 31
  • 88.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Aasdh 30
  • 77.76 (n)
Mouse
(Mus musculus)
Mammalia Aasdh 30 17 31
  • 77.64 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AASDH 31
  • 67 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AASDH 31
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AASDH 30 31
  • 66.18 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AASDH 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aasdh 30
  • 58.09 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3073 30
Zebrafish
(Danio rerio)
Actinopterygii aasdh 30 31
  • 52.34 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta U26 30 31
  • 44.11 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010071 30
  • 38.79 (n)
Worm
(Caenorhabditis elegans)
Secernentea W09D6.1 31
  • 11 (a)
OneToMany
Y66D12A.14 31
  • 8 (a)
OneToMany
C41A3.1 31
  • 2 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LYS2 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G35930 30
  • 43.55 (n)
Rice
(Oryza sativa)
Liliopsida Os06g0111600 30
  • 45.11 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.702 30
Species where no ortholog for AASDH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for AASDH Gene

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

Paralogs for AASDH Gene

genes like me logo Genes that share paralogs with AASDH: view

Variants for AASDH Gene

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

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs12498340 - p.Thr865Ala
rs34228795 - p.Pro93Arg
rs34543011 - p.Ile61Val
rs3796543 - p.Lys368Arg
rs3796544 - p.Ala747Val

Additional dbSNP identifiers (rs#s) for AASDH Gene

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

Variant ID Type Subtype PubMed ID
dgv5213n100 CNV gain 25217958
esv3600574 CNV loss 21293372
nsv1161086 CNV duplication 26073780
nsv829940 CNV gain 17160897
nsv964045 CNV duplication 23825009

Variation tolerance for AASDH Gene

Residual Variation Intolerance Score: 78.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.34; 92.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AASDH Gene

Human Gene Mutation Database (HGMD)
AASDH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AASDH

SNP Genotyping and Copy Number Assay Products

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

Disorders for AASDH Gene

MalaCards: The human disease database

(4) MalaCards diseases for AASDH Gene - From: DISEASES

Disorder Aliases PubMed IDs
hyperprolinemia, type ii
  • hyrpro2
hyperlysinemia, type i
  • lysine:alpha-ketoglutarate reductase deficiency
gordon holmes syndrome
  • gdhs
zellweger syndrome
  • zs
- elite association - COSMIC cancer census association via MalaCards
Search AASDH in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with AASDH: view

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

Publications for AASDH Gene

  1. Cloning and characterization of a novel human homolog* of mouse U26, a putative PQQ-dependent AAS dehydrogenase. (PMID: 15865210) Wang L … Mao Y (Molecular biology reports 2005) 2 3 4 23
  2. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome. (PMID: 17762044) Watkins PA … Pevsner J (Journal of lipid research 2007) 2 3
  3. Nutritional biochemistry: A new redox-cofactor vitamin for mammals. (PMID: 12712191) Kasahara T … Kato T (Nature 2003) 2 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3

Products for AASDH Gene

  • Signalway ELISA kits for AASDH
  • Signalway Proteins for AASDH

Sources for AASDH Gene