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ASPH Gene(Protein Coding)

Aspartate Beta-Hydroxylase

GCID:
GC08M061500
GIFtS:
61
Genes Participants
UDN Logo

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 ENSG00000283485.

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

Products:

  1. Regulatory Element

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
GH08F061755 1.3 Ensembl ENCODE 17.9 -45.4 -45398 8.7 ARNT SIN3A ZNF143 FOS KLF13 SP3 JUNB SMARCB1 KAT8 MEF2D ASPH NPM1P6 ENSG00000251127 MIR4470
GH08F061765 1.7 FANTOM5 Ensembl ENCODE 11.8 -52.6 -52625 3.4 ATF1 MLX SIN3A DMAP1 FOS SP5 PPARG MBD2 MAFF MIER3 ASPH ENSG00000251127 ENSG00000254119
GH08F061653 1 Ensembl ENCODE 17.1 +60.1 60078 2.0 ESRRA PKNOX1 NR2F1 TAL1 CHD1 CHD7 ARID1B ZNF664 JUND GATA3 ASPH KRT8P3 GC08P061662 RN7SKP97
GH08F061691 0.9 Ensembl ENCODE 18.4 +21.5 21494 2.5 NRF1 MAFG CHD1 CHD7 ATF2 ZNF316 SMARCA4 POLR2A NFE2 ZSCAN29 ASPH KRT8P3 ENSG00000283485
GH08F061688 1.1 Ensembl ENCODE 12 +24.8 24837 2.0 CREB3L1 ZNF384 FEZF1 YY1 ZNF664 ZBTB48 ZNF366 PRDM10 ZNF600 HOMEZ ASPH ENSG00000283485
- 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
ENSR00001393015 1540 4201 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9

Transcription factor binding sites by QIAGEN in the ASPH gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for ASPH Gene

Proteins for ASPH Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for ASPH Gene

Protein Expression for ASPH Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ASPH Gene

  • Glycosylation at Asn 452, Asn 706, and Asn 64
  • Modification sites at PhosphoSitePlus

Other Protein References for ASPH Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ASPH Gene

Domains & Families for ASPH Gene

Protein Domains for ASPH Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ASPH Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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:

Animal Model Products

Clone Products

  • Addgene plasmids for ASPH

Flow Cytometry Products

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:0005783 endoplasmic reticulum IDA,TAS --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane IDA 21062895
GO:0016020 membrane IEA --
GO:0016021 integral component of 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:0018193 peptidyl-amino acid modification IEA --
GO:0034220 ion transmembrane transport TAS --
GO:0045862 positive regulation of proteolysis IDA 18387192
GO:0055114 oxidation-reduction process 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

Products:

  1. Drug

(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 454
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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ASPH Gene

(53) REFSEQ mRNAs :
(22) Additional mRNA sequences :
(558) Selected AceView cDNA sequences:
(29) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ASPH Gene

Aspartate beta-hydroxylase:
Representative Sequences:

Clone Products

  • Addgene plasmids for ASPH

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

Products:

  1. Primer

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

mRNA expression in normal human tissues for ASPH Gene
mRNA expression by BioGPS for ASPH GenemRNA expression by GTEx 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).
genes like me logo Genes that share expression patterns with ASPH: view

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 Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB) [MIM:601552], Pathogenic 61,503,433(+) CAGCC(A/G)GAAAG reference, missense
rs879255574 Pathogenic 61,526,021(-) ATGAA(AACCT/GGG)GAGGG reference, frameshift-variant
rs10086389 -- 61,566,027(+) gctca(C/T)tgata intron-variant
rs10086644 -- 61,566,333(+) taaag(A/G)tgtga intron-variant
rs10086850 -- 61,566,457(+) aacat(C/T)gttga intron-variant

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

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

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

(9) 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
regular astigmatism
combat disorder
  • combat neurosis
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

  • Cloud-Clone Corp. Antibodies for ASPH
  • Cloud-Clone Corp. Proteins for ASPH
  • Cloud-Clone Corp Assay Kits for ASPH
  • Addgene plasmids for ASPH

Sources for ASPH Gene

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