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Aliases for ASPHD1 Gene

Aliases for ASPHD1 Gene

  • Aspartate Beta-Hydroxylase Domain Containing 1 2 3 5
  • EC 1.14.11.- 4
  • EC 1.14.11 56

External Ids for ASPHD1 Gene

Previous GeneCards Identifiers for ASPHD1 Gene

  • GC16P029820
  • GC16P029822
  • GC16P029911
  • GC16P027540
  • GC16P029912
  • GC16P029926

Summaries for ASPHD1 Gene

GeneCards Summary for ASPHD1 Gene

ASPHD1 (Aspartate Beta-Hydroxylase Domain Containing 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include dioxygenase activity. An important paralog of this gene is ASPHD2.

Additional gene information for ASPHD1 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for ASPHD1 Gene

Promoters and enhancers for ASPHD1 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
GH16I029898 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.2 173 3.8 PKNOX1 ARNT MLX ZFP64 ARID4B SIN3A YBX1 FEZF1 DMAP1 ZNF2 ASPHD1 GC16M029899 GC16M029900 SEZ6L2 ZNF785 ENSG00000260114 SMG1P5 SMG1P2 SRCAP MIR762HG
GH16I029876 Enhancer 0.9 Ensembl ENCODE 12.9 -23.3 -23266 1.9 HDGF KLF1 PKNOX1 ZNF140 ZMYM3 CTBP1 FOXK2 POLR2A VEZF1 ATF7 INO80E NPIPB12 MVP NPIPB13 SRCAP ZNF764 ASPHD1 SEZ6L2 ZNF785 TMEM219
GH16I029903 Enhancer 0.5 Ensembl 0.8 +3.2 3226 0.4 ZFHX2 ZFP3 SP2 ZNF704 EGR2 ZNF629 ASPHD1 ENSG00000279789 GC16M029747
GH16I029915 Enhancer 0.4 ENCODE 0.4 +15.4 15378 1.3 GLI2 NR2F6 PRDM1 ENSG00000279789 TMEM219 INO80E HIRIP3 YPEL3 DOC2A TAOK2 C16orf92 FAM57B MVP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASPHD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASPHD1 gene promoter:

Genomic Locations for ASPHD1 Gene

Genomic Locations for ASPHD1 Gene
chr16:29,900,375-29,920,112
(GRCh38/hg38)
Size:
19,738 bases
Orientation:
Plus strand
chr16:29,911,696-29,931,185
(GRCh37/hg19)

Genomic View for ASPHD1 Gene

Genes around ASPHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASPHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for ASPHD1 Gene

Q5U4P2:
  • EDGPRVVF
  • VDLWHPNVA
  • AERQALDF
  • GCELVVGGEPQCWAEG
  • RCHLGLK

Post-translational modifications for ASPHD1 Gene

No Post-translational modifications

Other Protein References for ASPHD1 Gene

Domains & Families for ASPHD1 Gene

Gene Families for ASPHD1 Gene

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

Protein Domains for ASPHD1 Gene

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

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:0016491 oxidoreductase activity IEA --
GO:0051213 dioxygenase activity IEA --
genes like me logo Genes that share ontologies with ASPHD1: view

Phenotypes for ASPHD1 Gene

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

Clone Products

No data available for Molecular function , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets 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
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 ASPHD1 gene
Compartment Confidence
cytosol 3
nucleus 2

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASPHD1 Gene

Pathways & Interactions for ASPHD1 Gene

SuperPathways for ASPHD1 Gene

No Data Available

Interacting Proteins for ASPHD1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000311447%0d%0a9606.ENSP00000369981%0d%0a
Selected Interacting proteins: Q5U4P2-ASPH1_HUMAN ENSP00000311447 for ASPHD1 Gene via IID STRING

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 and SIGNOR curated interactions for ASPHD1 Gene

Drugs & Compounds for ASPHD1 Gene

No Compound Related Data Available

Transcripts for ASPHD1 Gene

Unigene Clusters for ASPHD1 Gene

Aspartate beta-hydroxylase domain containing 1:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for ASPHD1 Gene

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

This gene is overexpressed in Brain - Putamen (basal ganglia) (x5.5), Brain - Spinal cord (cervical c-1) (x5.0), Brain - Substantia nigra (x4.3), Brain - Hippocampus (x4.3), and Brain - Amygdala (x4.1).

Protein differential expression in normal tissues from HIPED for ASPHD1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ASPHD1 Gene



Protein tissue co-expression partners for ASPHD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ASPHD1 Gene:

ASPHD1

SOURCE GeneReport for Unigene cluster for ASPHD1 Gene:

Hs.655761

Evidence on tissue expression from TISSUES for ASPHD1 Gene

  • Nervous system(4.4)
  • Intestine(4.2)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with ASPHD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
mouse
(Mus musculus)
Mammalia Asphd1 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ASPHD1 33 34
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia ASPHD1 33 34
  • 89.71 (n)
cow
(Bos Taurus)
Mammalia ASPHD1 33 34
  • 88.43 (n)
rat
(Rattus norvegicus)
Mammalia Asphd1 33
  • 85.98 (n)
oppossum
(Monodelphis domestica)
Mammalia ASPHD1 34
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASPHD1 34
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii asphd1 34
  • 45 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Asph 34
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K09A9.6 34
  • 7 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 28 (a)
OneToMany
Species where no ortholog for ASPHD1 was found in the sources mined by GeneCards:
  • 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

(1) 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 Variation AA Info Type
rs1000236584 -- 29,910,828(+) G/T genic_downstream_transcript_variant, intron_variant
rs1000360762 -- 29,900,402(+) G/T 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1000588711 -- 29,910,486(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000693028 -- 29,903,891(+) C/T intron_variant
rs1000984083 -- 29,900,259(+) C/A upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv33251 CNV gain 17666407

Variation tolerance for ASPHD1 Gene

Residual Variation Intolerance Score: 12.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.51; 85.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASPHD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASPHD1

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

Disorders for ASPHD1 Gene

Additional Disease Information for ASPHD1

No disorders were found for ASPHD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot 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 DS … MGC Project Team (Genome research 2004) 3 4 58
  2. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) Schizophrenia Working Group of the Psychiatric Genomics Consortium (Nature 2014) 3 58
  3. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. (PMID: 25231870) Perry JR … Ong KK (Nature 2014) 3 58
  4. Genome-wide association study of anthropometric traits in Korcula Island, Croatia. (PMID: 19260139) Polasek O … Rudan I (Croatian medical journal 2009) 44 58
  5. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PMID: 18691976) Daub H … Mann M (Molecular cell 2008) 4 58

Products for ASPHD1 Gene

Sources for ASPHD1 Gene

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