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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 Regular Astigmatism. Among its related pathways are Ion channel transport and Cardiac conduction. GO annotations related to this gene include calcium ion binding and ion channel binding. An important paralog of this gene is ASPHD1.

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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ASPH on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ASPH Gene at MOPED

Post-translational modifications for ASPH Gene

  • Glycosylation at Asn 452, Asn 706, and Asn 64
  • 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.
  • Contains 4 TPR repeats.
Family:
  • Belongs to the aspartyl/asparaginyl beta-hydroxylase family.
Similarity:
  • Contains 4 TPR repeats.
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

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:

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for ASPH Gene COMPARTMENTS Subcellular localization image for ASPH gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
cytosol 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ASPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm 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:0010524 positive regulation of calcium ion transport into cytosol IDA 21062895
GO:0010649 regulation of cell communication by electrical coupling TAS 22123818
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Aspartic acid Approved Nutra Target NMDA agonist 0
Succinic acid Approved Nutra Full agonist, Agonist, Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
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
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
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:

Flow Cytometry Products

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 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, MOPED, and MaxQB for ASPH Gene



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).
genes like me logo Genes that share expression patterns with ASPH: view

Protein tissue co-expression partners for ASPH Gene

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
cow
(Bos Taurus)
Mammalia ASPH 35
  • 84.33 (n)
  • 82.97 (a)
ASPH 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Asph 35
  • 82.9 (n)
  • 84 (a)
Asph 16
Asph 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ASPH 35
  • 98.94 (n)
  • 98.28 (a)
ASPH 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Asph 35
  • 82.55 (n)
  • 84.69 (a)
dog
(Canis familiaris)
Mammalia ASPH 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ASPH 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASPH 36
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASPH 35
  • 70.7 (n)
  • 70.24 (a)
ASPH 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASPH 36
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1434 35
zebrafish
(Danio rerio)
Actinopterygii ASPH 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Asph 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K09A9.6 36
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.621 36
  • 50 (a)
OneToOne
Species with no ortholog for ASPH:
  • 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
rs6995412 - 61,583,945(+) CTACC(A/C)TTTTA reference, missense
VAR_071821 Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB)
rs2350579 -- 61,641,296(+) TAGTC(C/T)TCAAA intron-variant
rs2350580 -- 61,641,772(+) TCATA(A/T)TTGAA intron-variant
rs2350584 -- 61,580,601(+) agatg(A/G)tggca intron-variant

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

Variant ID Type Subtype PubMed ID
nsv521898 CNV Gain 19592680
esv1949409 CNV Deletion 18987734
esv2737080 CNV Deletion 23290073
esv2737081 CNV Deletion 23290073
esv2662959 CNV Deletion 23128226
esv22699 CNV Loss 19812545
nsv890950 CNV Loss 21882294

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

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

Disorders for ASPH Gene

MalaCards: The human disease database

(7) 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-spontaneous filtering blebs syndrome
regular astigmatism
combat disorder
  • combat neurosis
cholangiocarcinoma
  • bile duct 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 23 67
  2. Cloning and characterization of the human gene encoding aspartyl beta-hydroxylase. (PMID: 7821814) Korioth F. … Frey J. (Gene 1994) 2 3 23
  3. [Expression of aspartyl-(asparaginyl) beta-hydroxylase in villi in patients with missed abortion]. (PMID: 19197126) Mi C. … Xue M. (Zhong Nan Da Xue Xue Bao Yi Xue Ban 2009) 3 23
  4. Prognostic value of aspartyl (asparaginyl)-beta-hydroxylase/humbug expression in non-small cell lung carcinoma. (PMID: 19200576) Luu M. … Wang L. (Hum. Pathol. 2009) 3 23
  5. Junctin and the histidine-rich Ca2+ binding protein: potential roles in heart failure and arrhythmogenesis. (PMID: 19403607) Pritchard T.J. … Kranias E.G. (J. Physiol. (Lond.) 2009) 3 23

Products for ASPH Gene

Sources for ASPH Gene

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