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Aliases for ASPH Gene

Aliases for ASPH Gene

  • Aspartate Beta-Hydroxylase 2 3 4 5
  • Peptide-Aspartate Beta-Dioxygenase 3 4
  • ASP Beta-Hydroxylase 3 4
  • Junctate 2 3
  • Junctin 2 3
  • Humbug 2 3
  • BAH 3 4
  • Aspartyl/Asparaginyl Beta-Hydroxylase 3
  • Cardiac Junctin 3
  • EC 1.14.11.16 4
  • A Beta H-J-J 3
  • CASQ2BP1 3
  • FDLAB 3
  • HAAH 3
  • JCTN 3
  • AAH 3

External Ids for ASPH Gene

Previous GeneCards Identifiers for ASPH Gene

  • GC08M061782
  • GC08M062355
  • GC08M062138
  • GC08M062465
  • GC08M062578
  • GC08M057901

Summaries for ASPH Gene

Entrez Gene Summary for ASPH Gene

  • This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]

GeneCards Summary for ASPH Gene

ASPH (Aspartate Beta-Hydroxylase) is a Protein Coding gene. Diseases associated with ASPH include Traboulsi Syndrome and Combat Disorder. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include calcium ion binding and ion channel binding. An important paralog of this gene is ASPHD2.

UniProtKB/Swiss-Prot for ASPH Gene

  • Isoform 1: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins.

  • Isoform 8: membrane-bound Ca(2+)-sensing protein, which is a structural component of the ER-plasma membrane junctions. Isoform 8 regulates the activity of Ca(+2) released-activated Ca(+2) (CRAC) channels in T-cells.

Gene Wiki entry for ASPH Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASPH Gene

Genomics for ASPH Gene

Regulatory Elements for ASPH Gene

Enhancers for ASPH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G061755 1.6 Ensembl ENCODE dbSUPER 17.9 -45.4 -45398 8.7 CREB3L1 ARNT SIN3A CBX5 ZNF143 FOS KLF13 SP3 JUNB REST ASPH ENSG00000251127 MIR4470
GH08G061765 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -52.6 -52625 3.4 FOXA2 ATF1 MLX SIN3A DMAP1 FOS SP5 PPARG ZNF592 MBD2 ASPH ENSG00000251127 LOC101929628
GH08G061691 1.2 Ensembl ENCODE dbSUPER 18.4 +22.0 21956 1.6 SMAD5 NRF1 MAFG CHD1 ZEB2 CHD7 ATF2 ZNF316 ZNF629 ZSCAN29 ASPH KRT8P3 GC08P061662
GH08G061653 1 ENCODE dbSUPER 17.1 +60.1 60078 2.0 PKNOX1 ESRRA TAL1 CHD7 ZNF664 TCF12 GATA3 GATA2 POLR2A ADNP ASPH KRT8P3 GC08P061662 RN7SKP97
GH08G061688 1.3 Ensembl ENCODE dbSUPER 12.1 +24.8 24844 2.0 CREB3L1 FEZF1 YY1 ZNF366 ZNF362 CEBPB ZEB2 MEF2D PRDM6 SMARCA4 ASPH GC08P061662
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASPH on UCSC Golden Path with GeneCards custom track

Promoters for ASPH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000225183 1440 4001 HDGF HNRNPUL1 PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B SIN3A FEZF1

Genomic Location for ASPH Gene

Chromosome:
8
Start:
61,500,556 bp from pter
End:
61,714,640 bp from pter
Size:
214,085 bases
Orientation:
Minus strand

Genomic View for ASPH Gene

Genes around ASPH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ASPH Gene

Proteins for ASPH Gene

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

    Protein Symbol:
    Q12797-ASPH_HUMAN
    Recommended name:
    Aspartyl/asparaginyl beta-hydroxylase
    Protein Accession:
    Q12797
    Secondary Accessions:
    • A6NDF4
    • A6NHI2
    • B4DIC9
    • B4E2K4
    • B7ZM95
    • E5RGP5
    • F5H667
    • Q6NXR7
    • Q8TB28
    • Q9H291
    • Q9H2C4
    • Q9NRI0
    • Q9NRI1
    • Q9Y4J0

    Protein attributes for ASPH Gene

    Size:
    758 amino acids
    Molecular mass:
    85863 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    • Monomer (By similarity). Isoform 8 interacts with ORAI1 and STIM1. Isoform 4 interacts with CASQ2.

    Three dimensional structures from OCA and Proteopedia for ASPH Gene

    Alternative splice isoforms for ASPH Gene

neXtProt entry for ASPH Gene

Post-translational modifications for ASPH Gene

  • Glycosylation at Asn452, posLast=706706, and posLast=6464
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for ASPH Gene

Domains & Families for ASPH Gene

Graphical View of Domain Structure for InterPro Entry

Q12797

UniProtKB/Swiss-Prot:

ASPH_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 ASPH: view

No data available for Gene Families for ASPH Gene

Function for ASPH Gene

Molecular function for ASPH Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Peptide L-aspartate + 2-oxoglutarate + O(2) = peptide 3-hydroxy-L-aspartate + succinate + CO(2).
UniProtKB/Swiss-Prot Function:
Isoform 1: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins.
UniProtKB/Swiss-Prot Function:
Isoform 8: membrane-bound Ca(2+)-sensing protein, which is a structural component of the ER-plasma membrane junctions. Isoform 8 regulates the activity of Ca(+2) released-activated Ca(+2) (CRAC) channels in T-cells.

Enzyme Numbers (IUBMB) for ASPH Gene

Gene Ontology (GO) - Molecular Function for ASPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004597 peptide-aspartate beta-dioxygenase activity IEA --
GO:0005198 structural molecule activity TAS 11007777
GO:0005509 calcium ion binding NAS,TAS 11007777
GO:0005515 protein binding IPI 22586105
GO:0008307 structural constituent of muscle TAS 11007777
genes like me logo Genes that share ontologies with ASPH: view
genes like me logo Genes that share phenotypes with ASPH: view

Human Phenotype Ontology for ASPH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ASPH Gene

MGI Knock Outs for ASPH:

CRISPR Products

Clone Products

  • Addgene plasmids for ASPH
  • Applied Biological Materials Clones for ASPH

No data available for Transcription Factor Targets and HOMER Transcription for ASPH Gene

Localization for ASPH Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASPH Gene

Isoform 1: Endoplasmic reticulum membrane; Single-pass type II membrane protein.
Isoform 4: Sarcoplasmic reticulum membrane; Single-pass type II membrane protein.
Isoform 8: Endoplasmic reticulum 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 ASPH gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
nucleus 2
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ASPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum TAS,IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane IDA 21062895
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ASPH: view

Pathways & Interactions for ASPH Gene

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

Pathways by source for ASPH Gene

Gene Ontology (GO) - Biological Process for ASPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS 10974562
GO:0007389 pattern specification process IEA --
GO:0008285 negative regulation of cell proliferation IEA --
GO:0018193 peptidyl-amino acid modification IEA --
GO:0031647 regulation of protein stability IEA --
genes like me logo Genes that share ontologies with ASPH: view

No data available for SIGNOR curated interactions for ASPH Gene

Drugs & Compounds for ASPH Gene

(7) Drugs for ASPH Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Aspartic acid Approved Nutra Target 0
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
Warfarin Approved Pharma 470
Carbon dioxide Approved, Vet_approved Pharma 0
Oxygen Approved, Vet_approved Pharma 0

(3) Additional Compounds for ASPH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7
genes like me logo Genes that share compounds with ASPH: view

Transcripts for ASPH Gene

Unigene Clusters for ASPH Gene

Aspartate beta-hydroxylase:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for ASPH
  • Applied Biological Materials Clones for ASPH

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - - - - - -
SP5: -

Relevant External Links for ASPH Gene

GeneLoc Exon Structure for
ASPH
ECgene alternative splicing isoforms for
ASPH

Expression for ASPH Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ASPH Gene

This gene is overexpressed in Nasopharynx (16.3), Bone (10.5), and Adipocyte (6.5).

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



Protein tissue co-expression partners for ASPH Gene

NURSA nuclear receptor signaling pathways regulating expression of ASPH Gene:

ASPH

SOURCE GeneReport for Unigene cluster for ASPH Gene:

Hs.332422

mRNA Expression by UniProt/SwissProt for ASPH Gene:

Q12797-ASPH_HUMAN
Tissue specificity: Isoform 1 is detected in all tissues tested. Isoform 8 is mainly expressed in pancreas, heart, brain, kidney and liver. Isoform 8 is expressed in kidney (at protein level).

Evidence on tissue expression from TISSUES for ASPH Gene

  • Nervous system(4.9)
  • Heart(4.6)
  • Liver(4.6)
  • Muscle(4.6)
  • Kidney(3.8)
  • Skin(3.5)
  • Lung(3.4)
  • Intestine(2.9)
  • Pancreas(2.7)
  • Adrenal gland(2.4)
  • Stomach(2.4)
  • Eye(2.2)
  • Bone(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ASPH Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeleton
Organs:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
  • tooth
General:
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with ASPH: view

Primer Products

No data available for mRNA differential expression in normal tissues for ASPH Gene

Orthologs for ASPH Gene

This gene was present in the common ancestor of animals.

Orthologs for ASPH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASPH 34 35
  • 98.94 (n)
cow
(Bos Taurus)
Mammalia ASPH 34 35
  • 84.33 (n)
mouse
(Mus musculus)
Mammalia Asph 34 16 35
  • 82.9 (n)
rat
(Rattus norvegicus)
Mammalia Asph 34
  • 82.55 (n)
dog
(Canis familiaris)
Mammalia ASPH 35
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ASPH 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASPH 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASPH 34 35
  • 70.7 (n)
lizard
(Anolis carolinensis)
Reptilia ASPH 35
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1434 34
zebrafish
(Danio rerio)
Actinopterygii ASPH 35
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Asph 35
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K09A9.6 35
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.621 35
  • 50 (a)
OneToOne
Species where no ortholog for ASPH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 (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 ASPH Gene

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

Paralogs for ASPH Gene

Paralogs for ASPH Gene

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

Variants for ASPH Gene

Sequence variations from dbSNP and Humsavar for ASPH Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs374385878 Pathogenic, Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB) [MIM:601552] 61,503,433(+) CAGCC(A/G)GAAAG reference, missense
rs879255574 Pathogenic 61,526,021(-) ATGAA(AACCT/GGG)GAGGG reference, frameshift-variant
rs1000009920 -- 61,621,289(+) AGTTT(C/T)ATATT intron-variant
rs1000020692 -- 61,578,180(+) ATCTC(C/T)GCCTG intron-variant
rs1000024817 -- 61,547,419(+) AGACC(A/C)TTTTA intron-variant

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

Variant ID Type Subtype PubMed ID
esv1949409 CNV deletion 18987734
esv22699 CNV loss 19812545
esv2662959 CNV deletion 23128226
esv2761430 CNV loss 21179565
esv3572792 CNV loss 25503493
esv3572793 CNV loss 25503493
esv3617389 CNV gain 21293372
esv3617390 CNV gain 21293372
esv3617391 CNV loss 21293372
esv3617392 CNV loss 21293372
esv3617393 CNV gain 21293372
nsv1015216 CNV loss 25217958
nsv1029046 CNV gain 25217958
nsv473963 CNV novel sequence insertion 20440878
nsv521898 CNV gain 19592680
nsv967596 CNV duplication 23825009

Variation tolerance for ASPH Gene

Residual Variation Intolerance Score: 27.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.99; 49.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASPH Gene

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

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

Disorders for ASPH Gene

MalaCards: The human disease database

(10) MalaCards diseases for ASPH Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
traboulsi syndrome
  • facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
combat disorder
  • combat neurosis
regular astigmatism
in situ pulmonary adenocarcinoma
  • bronchioalveolar carcinoma
acute stress disorder
  • traumatic stress disorder
- elite association - COSMIC cancer census association via MalaCards
Search ASPH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ASPH_HUMAN
  • Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB) [MIM:601552]: A syndrome characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual non-traumatic conjunctival cysts (filtering blebs). {ECO:0000269 PubMed:24768550}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ASPH

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

No data available for Genatlas for ASPH Gene

Publications for ASPH Gene

  1. cDNA cloning and characterization of human cardiac junctin. (PMID: 10974562) Lim K.Y. … Kim D.H. (Gene 2000) 2 3 4 22 64
  2. Cloning and characterization of the human gene encoding aspartyl beta-hydroxylase. (PMID: 7821814) Korioth F. … Frey J. (Gene 1994) 2 3 4 22 64
  3. Molecular cloning of junctin from human and developing rabbit heart. (PMID: 10767180) Wetzel G.T. … Chen F. (Mol. Genet. Metab. 2000) 3 4 22 64
  4. Aspartyl beta -hydroxylase (Asph) and an evolutionarily conserved isoform of Asph missing the catalytic domain share exons with junctin. (PMID: 10956665) Dinchuk J.E. … Friedman P.A. (J. Biol. Chem. 2000) 3 4 22 64
  5. Molecular cloning, expression, functional characterization, chromosomal localization, and gene structure of junctate, a novel integral calcium binding protein of sarco(endo)plasmic reticulum membrane. (PMID: 11007777) Treves S. … Zorzato F. (J. Biol. Chem. 2000) 3 4 22 64

Products for ASPH Gene

  • Addgene plasmids for ASPH

Sources for ASPH Gene

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