Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ASPHD1 Gene

Aliases for ASPHD1 Gene

  • Aspartate Beta-Hydroxylase Domain Containing 1 2 3
  • EC 1.14.11.- 4
  • EC 1.14.11 63

External Ids for ASPHD1 Gene

Previous GeneCards Identifiers for ASPHD1 Gene

  • GC16P029820
  • GC16P029822
  • GC16P027540

Summaries for ASPHD1 Gene

GeneCards Summary for ASPHD1 Gene

ASPHD1 (Aspartate Beta-Hydroxylase Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include dioxygenase activity. An important paralog of this gene is ASPH.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASPHD1 Gene

Genomics for ASPHD1 Gene

Regulatory Elements for ASPHD1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ASPHD1 Gene

Start:
29,900,375 bp from pter
End:
29,919,864 bp from pter
Size:
19,490 bases
Orientation:
Plus strand

Genomic View for ASPHD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ASPHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASPHD1 Gene

Proteins for ASPHD1 Gene

  • Protein details for ASPHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5U4P2-ASPH1_HUMAN
    Recommended name:
    Aspartate beta-hydroxylase domain-containing protein 1
    Protein Accession:
    Q5U4P2
    Secondary Accessions:
    • A0AVE3
    • B7ZLZ3
    • Q8IW63
    • Q8N316
    • Q96H00

    Protein attributes for ASPHD1 Gene

    Size:
    390 amino acids
    Molecular mass:
    41128 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ASPHD1 Gene

Proteomics data for ASPHD1 Gene at MOPED

Selected DME Specific Peptides for ASPHD1 Gene

Post-translational modifications for ASPHD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASPHD1 Gene

Domains for ASPHD1 Gene

Protein Domains for ASPHD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ASPHD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5U4P2

UniProtKB/Swiss-Prot:

ASPH1_HUMAN :
  • Q5U4P2
Family:
  • Belongs to the aspartyl/asparaginyl beta-hydroxylase family.
genes like me logo Genes that share domains with ASPHD1: view

No data available for Gene Families for ASPHD1 Gene

Function for ASPHD1 Gene

Enzyme Numbers (IUBMB) for ASPHD1 Gene

Gene Ontology (GO) - Molecular Function for ASPHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051213 dioxygenase activity IEA --
genes like me logo Genes that share ontologies with ASPHD1: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ASPHD1

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ASPHD1 Gene

Localization for ASPHD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASPHD1 Gene

Membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASPHD1 Gene COMPARTMENTS Subcellular localization image for ASPHD1 gene
Compartment Confidence
cytosol 3
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ASPHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ASPHD1: view

Pathways for ASPHD1 Gene

SuperPathways for ASPHD1 Gene

No Data Available

Interacting Proteins for ASPHD1 Gene

Gene Ontology (GO) - Biological Process for ASPHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018193 peptidyl-amino acid modification IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ASPHD1: view

No data available for Pathways by source for ASPHD1 Gene

Transcripts for ASPHD1 Gene

Unigene Clusters for ASPHD1 Gene

Aspartate beta-hydroxylase domain containing 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ASPHD1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASPHD1 Gene

No ASD Table

Relevant External Links for ASPHD1 Gene

GeneLoc Exon Structure for
ASPHD1
ECgene alternative splicing isoforms for
ASPHD1

Expression for ASPHD1 Gene

mRNA expression in normal human tissues for ASPHD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASPHD1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (5.5), Brain - Spinal cord (cervical c-1) (5.0), Brain - Substantia nigra (4.3), Brain - Hippocampus (4.3), and Brain - Amygdala (4.1).

Protein differential expression in normal tissues for ASPHD1 Gene

This gene is overexpressed in Pancreatic juice (44.1) and Heart (24.2).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for ASPHD1 Gene

SOURCE GeneReport for Unigene cluster for ASPHD1 Gene Hs.655761

genes like me logo Genes that share expressions with ASPHD1: view

Expression partners for ASPHD1 Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for ASPHD1 Gene

Orthologs for ASPHD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASPHD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ASPHD1 35
  • 88.43 (n)
  • 93.44 (a)
ASPHD1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASPHD1 35
  • 89.71 (n)
  • 93.17 (a)
ASPHD1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ASPHD1 35
  • 99.57 (n)
  • 99.23 (a)
ASPHD1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Asphd1 35
  • 85.98 (n)
  • 88.86 (a)
mouse
(Mus musculus)
Mammalia Asphd1 16
Asphd1 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ASPHD1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASPHD1 36
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii asphd1 36
  • 45 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Asph 36
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K09A9.6 36
  • 7 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
OneToMany
Species with no ortholog for ASPHD1:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 ASPHD1 Gene

ENSEMBL:
Gene Tree for ASPHD1 (if available)
TreeFam:
Gene Tree for ASPHD1 (if available)

Paralogs for ASPHD1 Gene

Paralogs for ASPHD1 Gene

Selected SIMAP similar genes for ASPHD1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ASPHD1: view

Variants for ASPHD1 Gene

Sequence variations from dbSNP and Humsavar for ASPHD1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs4427827 -- 29,902,889(-) AAAAA(A/G)AAAAA intron-variant
rs10624480 -- 29,904,134(+) AAAAT(-/TAAAA)AAAAT intron-variant
rs11648553 -- 29,901,581(+) CGCGG(A/G)ACGCC missense, reference, nc-transcript-variant
rs28517865 -- 29,902,821(+) TACAC(C/T)TTCTT intron-variant
rs35784618 -- 29,901,486(-) GGCCA(-/CCA)CCCTG cds-indel, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for ASPHD1 Gene

Variant ID Type Subtype PubMed ID
nsv905717 CNV Loss 21882294
dgv2668n71 CNV Loss 21882294
esv33251 CNV Gain 17666407

Relevant External Links for ASPHD1 Gene

HapMap Linkage Disequilibrium report
ASPHD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASPHD1 Gene

Disorders for ASPHD1 Gene

Relevant External Links for ASPHD1

Genetic Association Database (GAD)
ASPHD1

No disorders were found for ASPHD1 Gene.

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for ASPHD1 Gene

Publications for ASPHD1 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  2. Genome-wide association study of anthropometric traits in Korcula Island, Croatia. (PMID: 19260139) Polasek O. … Rudan I. (Croat. Med. J. 2009) 48
  3. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J. … Pennacchio L.A. (Nature 2004) 4
  4. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PMID: 18691976) Daub H. … Mann M. (Mol. Cell 2008) 4
  5. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B. … Gibbs R.A. (Anal. Biochem. 1996) 3

Products for ASPHD1 Gene

Sources for ASPHD1 Gene

Back to Top

Content