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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ASPH Gene

protein-coding   GIFtS: 59
GCID: GC08M062465

Aspartate Beta-Hydroxylase
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Aliases
for ASPH gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
Aliases
Aspartate Beta-Hydroxylase1 2 3     BAH2
humbug1 2     CASQ2BP12
junctate1 2     JCTN2
junctin1 2     A Beta H-J-J2
Peptide-Aspartate Beta-Dioxygenase2 3     Aspartyl/Asparaginyl Beta-Hydroxylase2
ASP Beta-Hydroxylase2 3     aspartyl/asparaginyl-beta-hydroxylase2
HAAH2 5     Cardiac Junctin2
AAH2     EC 1.14.11.163

External Ids:    HGNC: 7571   Entrez Gene: 4442   Ensembl: ENSG000001983637   OMIM: 6005825   UniProtKB: Q127973   

Export aliases for ASPH gene to outside databases

Previous GC identifers: GC08M061782 GC08M062355 GC08M062138 GC08M062578 GC08M057901


Summaries
for ASPH gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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 regular astigmatism, and catecholaminergic polymorphic ventricular tachycardia. GO annotations related to this gene include electron carrier activity and calcium ion binding. An important paralog of this gene is ASPHD2.

UniProtKB/Swiss-Prot: ASPH_HUMAN, Q12797
Function: Isoform 1: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF)
domains of a number of proteins
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

Gene Wiki entry for ASPH Gene


Genomic Views
for ASPH gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008183.19  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ASPH gene promoter:
         c-Fos   GR   AP-1   JunB   GR-beta   Fra-1   FosB   GATA-2   GR-alpha   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ASPH promoter sequence
   Search SABiosciences Chromatin IP Primers for ASPH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASPH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q12.1   Ensembl cytogenetic band:  8q12.3   HGNC cytogenetic band: 8q12.1

ASPH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASPH gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M062465:  view genomic region     (about GC identifiers)

Start:
 62,413,115 bp from pter      End:
 62,627,199 bp from pter
Size:
 214,085 bases      Orientation:
 minus strand

Proteins
for ASPH gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB/Swiss-Prot: ASPH_HUMAN, Q12797 (See protein sequence)
Recommended Name: Aspartyl/asparaginyl beta-hydroxylase  
Size: 758 amino acids; 85863 Da
Cofactor: Iron
Subunit: Monomer (By similarity). Isoform 8 interacts with ORAI1 and STIM1
Subcellular location: Isoform 1: Endoplasmic reticulum membrane; Single-pass type II membrane protein
Subcellular location: Isoform 8: Endoplasmic reticulum membrane; Single-pass type II membrane protein
1 PDB 3D structure from and Proteopedia for ASPH:
3RCQ (3D)    
Secondary accessions: A6NDF4 A6NHI2 B4DIC9 B4E2K4 B7ZM95 E5RGP5 F5H667 Q6NXR7 Q8TB28 Q9H291
Q9H2C4 Q9NRI0 Q9NRI1 Q9Y4J0
Alternative splicing: 10 isoforms:  Q12797-1   Q12797-2   Q12797-3   Q12797-4   Q12797-5   Q12797-10   Q12797-6   Q12797-7   
Q12797-8   Q12797-9   (Glycosylated on Asn-64)

Explore the universe of human proteins at neXtProt for ASPH: NX_Q12797

Explore proteomics data for ASPH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q12797

    • ASPH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ASPH Protein Expression
    REFSEQ proteins (12 alternative transcripts): 
    NP_001158222.1  NP_001158223.1  NP_001158224.1  NP_001158225.1  NP_001158226.1  NP_001158227.1  NP_001158228.1  NP_004309.2  
    NP_064549.1  NP_115855.1  NP_115856.1  NP_115857.1  

    ENSEMBL proteins: 
     ENSP00000368767   ENSP00000429718   ENSP00000430516   ENSP00000348841   ENSP00000427823  
     ENSP00000429286   ENSP00000430245   ENSP00000429954   ENSP00000429160   ENSP00000427877  
     ENSP00000429743   ENSP00000373856   ENSP00000436188   ENSP00000368762   ENSP00000428060  
     ENSP00000437864   ENSP00000394013  

    Human Recombinant Protein Products for ASPH: 
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    Novus Biologicals ASPH Proteins
    Novus Biologicals ASPH Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for ASPH
    Cloud-Clone Corp. Proteins for ASPH 

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum TAS10974562
    GO:0005789endoplasmic reticulum membrane NAS11007777
    GO:0005886plasma membrane IDA--
    GO:0014701junctional sarcoplasmic reticulum membrane TAS17569730

    ASPH for ontologies           About GeneDecksing



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    Abcam antibodies for ASPH
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    LSBio Antibodies in human, mouse, rat for ASPH 

    Assay Products for ASPH: 
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    Cloud-Clone Corp. ELISAs for ASPH 
    Cloud-Clone Corp. CLIAs for ASPH

    Protein Domains /
    Families
    for ASPH gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 5/6 InterPro protein domains (see all 6):
     IPR007943 Asp-B-hydro/Triadin_dom
     IPR007803 Asp_Arg_b-Hydrxlase
     IPR027443 IPNS-like
     IPR011990 TPR-like_helical
     IPR013026 TPR-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q12797

    ProtoNet protein and cluster: Q12797

    UniProtKB/Swiss-Prot: ASPH_HUMAN, Q12797
    Similarity: Belongs to the aspartyl/asparaginyl beta-hydroxylase family
    Similarity: Contains 4 TPR repeats


    ASPH for domains           About GeneDecksing


    Function
    for ASPH gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ASPH_HUMAN, Q12797
    Function: Isoform 1: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF)
    domains of a number of proteins
    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
    Catalytic activity: Peptide L-aspartate + 2-oxoglutarate + O(2) = peptide 3-hydroxy-L-aspartate + succinate +
    CO(2)

         Enzyme Number (IUBMB): EC 1.14.11.161

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004597peptide-aspartate beta-dioxygenase activity IEA--
    GO:0005198structural molecule activity TAS11007777
    GO:0005509calcium ion binding NAS11007777
    GO:0005515protein binding IPI--
    GO:0008307structural constituent of muscle TAS11007777
         
    ASPH for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ASPH:
     Synthetic lethal with Ras 

         9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Asph):
     cardiovascular system  craniofacial  digestive/alimentary  homeostasis/metabolism  limbs/digits/tail 
     mortality/aging  muscle  reproductive system  tumorigenesis 

    ASPH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ASPH: Asphtm1Egk Asphtm1Jed

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ASPH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ASPH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ASPH 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ASPH 

    miRNA
    Products:            		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ASPH
    8/62 QIAGEN miScript miRNA Assays for microRNAs that regulate ASPH (see all 62):
    hsa-miR-3152-3p hsa-miR-429 hsa-miR-15a hsa-miR-513a-5p hsa-miR-25 hsa-miR-29a hsa-miR-486-3p hsa-miR-183*
    SwitchGear 3'UTR luciferase reporter plasmid: ASPH 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ASPH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ASPH

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ASPH
    Sirion Biotech Customized adenovirus for overexpression of ASPH

    Clone
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    OriGene clones in human, mouse for ASPH (see all 71)
    OriGene ORF clones in mouse, rat for ASPH
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    GenScript: all cDNA clones in your preferred vector (see all 12): ASPH (NM_032466)
    Sino Biological Human cDNA Clone for ASPH
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASPH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPH
    Sirion Biotech Customized lentivirus for stable overexpression of ASPH 
                         Customized lentivirus expression plasmids for stable overexpression of ASPH 

    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPH


    Pathways & Interactions
    for ASPH gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ASPH

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/14 Interacting proteins for ASPH (Q127973 ENSP000003687674) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SQSTM1Q135013, ENSP000003744554I2D: score=3 STRING: ENSP00000374455
    DDA1Q9BW613I2D: score=1 
    GABARAPL1Q9H0R83I2D: score=1 
    GABARAPL2P605203I2D: score=1 
    GBASO753233I2D: score=1 
    About this table

    Gene Ontology (GO): 5/27 biological process terms (GO ID links to tree view) (see all 27):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005513detection of calcium ion TAS--
    GO:0006936muscle contraction TAS10974562
    GO:0007389pattern specification process IEA--
    GO:0008150biological_process ND--
    GO:0008285negative regulation of cell proliferation IEA--

    ASPH for ontologies           About GeneDecksing



    Drugs & Compounds
    for ASPH gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ASPH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ASPH

    6 HMDB Compounds for ASPH    About this table
    CompoundSynonyms CAS #PubMed Ids
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    IronArmco iron (see all 19)7439-89-6--
    L-Aspartic acid(+)-Aspartate (see all 41)56-84-8--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--
    OxygenOxygen (see all 5)7782-44-7--
    Succinic acid1,2-Ethanedicarboxylate (see all 11)110-15-6--

    2 DrugBank Compounds for ASPH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Aspartic Acid(+)-Aspartic acid (see all 23)56-84-8target--6785382 17139284 17016423 403177
    Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6target--17139284 17016423

    3 Novoseek inferred chemical compound relationships for ASPH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ryanodine 83.4 40 19398037 (6), 19230141 (5), 9287354 (4), 15731387 (2) (see all 16)
    calcium 52.3 54 19230141 (7), 18620751 (6), 15731387 (2), 15050380 (2) (see all 15)
    dihydropyridine 35.2 1 12959958 (1)

    Search CenterWatch for drugs/clinical trials and news about ASPH

    Transcripts
    for ASPH gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ASPH gene (12 alternative transcripts): 
    NM_001164750.1  NM_001164751.1  NM_001164752.1  NM_001164753.1  NM_001164754.1  NM_001164755.1  NM_001164756.1  NM_004318.3  
    NM_020164.4  NM_032466.3  NM_032467.3  NM_032468.4  

    Unigene Cluster for ASPH:

    Aspartate beta-hydroxylase
    Hs.332422  [show with all ESTs]
    Unigene Representative Sequence: NM_004318
    18/30 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 30):
    ENST00000379454(uc003xuo.2) ENST00000521909 ENST00000524173 ENST00000521499
    ENST00000522349 ENST00000523897 ENST00000523927 ENST00000522919 ENST00000356457(uc003xum.3 uc003xun.3 uc011lek.2)
    ENST00000519234 ENST00000518068 ENST00000517903(uc003xul.3 uc011lei.2 uc011lej.2 uc011leh.2)
    ENST00000517847 ENST00000518441 ENST00000522835 ENST00000519678 ENST00000519264
    ENST00000518306

    miRNA
    Products:             		 QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ASPH
    8/62 QIAGEN miScript miRNA Assays for microRNAs that regulate ASPH (see all 62):
    hsa-miR-3152-3p hsa-miR-429 hsa-miR-15a hsa-miR-513a-5p hsa-miR-25 hsa-miR-29a hsa-miR-486-3p hsa-miR-183*
    SwitchGear 3'UTR luciferase reporter plasmid: ASPH 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional mRNA sequence: 

    AF086211.1 AF184241.1 AF224468.1 AF224469.1 AF289489.1 AF306765.1 AF339775.1 AK096383.1 
    AK291836.1 AK295528.1 AK298577.1 AK304314.1 BC015518.2 BC025236.1 BC066929.1 BC142967.1 
    BC144362.1 BC144363.1 EU718494.1 FJ461473.1 S83325.1 U03109.1 

    24/46 DOTS entries (see all 46):

    DT.95137827  DT.75142168  DT.100828247  DT.97791318  DT.91747937  DT.100717633  DT.121476279  DT.91806352 
    DT.100031688  DT.100828251  DT.101983609  DT.75144670  DT.121476264  DT.100828250  DT.100031678  DT.91771048 
    DT.91838855  DT.121476378  DT.91771045  DT.92395560  DT.110348  DT.121476242  DT.95137817  DT.97860729 

    24/558 AceView cDNA sequences (see all 558):

    BM806632 BM795015 CA420254 CR614279 AF339775 CA420566 AW612493 CD722024 
    BX479249 BQ018990 BM851748 BE544061 AA602346 BM756128 BF590643 BG249108 
    BE550654 CB122028 AU132666 BC025236 BM354082 BF591055 BM785890 BX477471 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ASPH    About this scheme

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


    ECgene alternative splicing isoforms for ASPH

    Expression
    for ASPH gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ASPH expression in normal human tissues (normalized intensities)      ASPH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTACTCGAT
    ASPH Expression
    About this image


    ASPH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Proerythroblasts Hematopoietic Bone Marrow
             monocyte-derived macrophage   
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Adipose-derived stromal vascular fraction and adipocytes (HiQCell)
             Adipocyte   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             vastus lateralis   
     
     Endothelium (Cardiovascular System)
             cd31+ cells   
     
     Chorion (Extraembryonic Tissues)
             chorion villus cells   

    See ASPH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASPH

    SOURCE GeneReport for Unigene cluster: Hs.332422

    UniProtKB/Swiss-Prot: ASPH_HUMAN, Q12797
    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)

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    Orthologs
    for ASPH gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for ASPH gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Asph1 , 5 aspartate-beta-hydroxylase1, 5 83.78(n)1
    85.73(a)1    		   4 (4.17 cM)5
    659731  NM_001177849.11  NP_001171320.11 
     94480695 
    chicken
    (Gallus gallus)    		 Aves ASPH1 aspartate beta-hydroxylase 71.59(n)
    70.34(a)    		   421142  XM_419224.3  XP_419224.3 
    lizard
    (Anolis carolinensis)    		 Reptilia ASPH6
    		 Uncharacterized protein
    		 57(a)
    		 1 ↔ 1
    		 4(28939423-29054740)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.14342 Xenopus laevis transcribed sequence with weak similarity more 74.89(n)    BG552949.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5592361 similar to Aspartyl/asparaginyl beta-hydroxylase (Aspartate more 65.11(n)
    66.09(a)    		   559236  XM_682556.5  XP_687648.5 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Asph1 Aspartyl beta-hydroxylase 48.36(n)
    38.77(a)    		   36778  NM_166140.3  NP_725525.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea K09A9.61 Protein K09A9.6 47.15(n)
    31.32(a)    		   181645  NM_001129692.1  NP_001123164.1 


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

    Paralogs
    for ASPH gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ASPH gene
    ASPHD22  ASPHD12  

    ASPH for paralogs           About GeneDecksing



    Genomic Variants
    for ASPH gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4155 SNPs in ASPH are shown (see all 4155)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs786933731,2
    		C--57908702(+) GAAAGA/GATGTT 2 -- int10--------
    rs610004781,2
    		C--57908706(+) GGATGAATG/-  
                TTTTT     		2 -- int11Minor allele frequency- -:0.50NA 2
    rs344272751,2
    		C--57909385(+) TAAGA-/G/GA  
                AGAAA     		2 -- int11NA 2
    rs1462680911,2
    		C--57920722(+) TGTGG-/GGAGAGGA 2 -- cds10--------
    rs1997163621,2
    		--57924367(+) TTTCT-/TTCTTTTT 2 -- int10--------
    rs1120855681,2
    		C--57924373(+) TCTTTC/TTTTTT 2 -- int11Minor allele frequency- T:0.50NA 2
    rs752590091,2
    		C--57963807(+) AAAGT-/GAGT  
                AATTT     		2 -- int10--------
    rs1481525091,2
    		C--57967151(+) ATCAT-/TGATGAAGTGATCTAC
    ACTAAACAGCTAAGATCAC    TGATG     		2 -- int10--------
    rs74625021,2
    		C--57967185(+) gatcaC/Ttgatg 2 -- int11Minor allele frequency- T:0.50WA 2
    rs114062051,2
    		C--57978875(+) ATGACA/-AAAAA 2 -- int1 trp31Minor allele frequency- -:0.00CSA 2

    HapMap Linkage Disequilibrium report for ASPH (62413115 - 62627199 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ASPH:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2662959CNV Deletion23128226
    esv1949409CNV Deletion18987734
    esv2737080CNV Deletion23290073
    esv2737081CNV Deletion23290073
    nsv890950CNV Loss21882294
    esv22699CNV Loss19812545
    nsv521898CNV Gain19592680


    Human Gene Mutation Database (HGMD): ASPH
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    Disorders / Diseases
    for ASPH gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 OMIM gene information: 600582    OMIM disorders: --

    20/21 diseases for ASPH (see all 21):    About MalaCards
    regular astigmatism    catecholaminergic polymorphic ventricular tachycardia    conn's syndrome    malignant hyperthermia
    malignant hyperthermia susceptibility    cholangiocarcinoma    astigmatism    alcoholic hepatitis
    non-small cell lung carcinoma    bipolar disorder    intrahepatic cholangiocarcinoma    myopathy
    alcoholism    hepatocellular carcinoma    gastric cancer    neuroblastoma
    colon cancer    schizophrenia    hypoxia    hepatitis

    1 disease from the University of Copenhagen DISEASES database for ASPH:
    Regular astigmatism

    ASPH for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    5 Novoseek inferred disease relationships for ASPH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arrhythmia 40 2 19286959 (2)
    cholangiocarcinoma 39.8 3 10728685 (2), 19663697 (1)
    heart failure 31.8 4 17400717 (3), 19403607 (1)
    hepatocellular carcinoma 18.7 4 19663697 (2), 10728685 (1), 16564107 (1)
    tumors 0 12 18334751 (2), 20230674 (2), 19663697 (1), 17156427 (1) (see all 5)

    Genetic Association Database (GAD): ASPH

    Export disorders for ASPH gene to outside databases

    Publications
    for ASPH gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ASPH gene, integrated from 9 sources (see all 102):
    (articles sorted by number of sources associating them with ASPH)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning and characterization of human cardiac junctin. (PubMed id 10974562)1, 2, 3, 9 Lim K.Y.... Kim D.H. (2000)
    2. Cloning and characterization of the human gene encoding aspartyl beta-hydroxylase. (PubMed id 7821814)1, 2, 3, 9 Korioth F.... Frey J. (1994)
    3. Aspartyl beta -hydroxylase (Asph) and an evolutionarily conserved isoform of Asph missing the catalytic domain share exons with junctin. (PubMed id 10956665)1, 2, 9 Dinchuk J.E....Friedman P.A. (2000)
    4. Molecular cloning of junctin from human and developing rabbit heart. (PubMed id 10767180)1, 2, 9 Wetzel G.T.... Chen F. (2000)
    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. (PubMed id 11007777)1, 2, 9 Treves S.... Zorzato F. (2000)
    6. Junctate is a Ca2+-sensing structural component of Ora i1 and stromal interaction molecule 1 (STIM1). (PubMed id 22586105)1, 2 Srikanth S....Gwack Y. (2012)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Overexpression of human aspartyl(asparaginyl)beta-hydroxylase in hepatocellular carcinoma and cholangiocarcinoma. (PubMed id 8823296)1, 2 Lavaissiere L.... Friedman P.A. (1996)
    9. On the role of junctin in cardiac Ca2+ handling, contractility, and heart failure. (PubMed id 17400717)1, 9 Gergs U....Neumann J. (2007)
    10. Complex formation between junctin, triadin, calsequestrin, and the ryanodine receptor. Proteins of the cardiac junctional sarcoplasmic reticulum membrane. (PubMed id 9287354)1, 9 Zhang L....Jones L.R. (1997)

    External Searches for ASPH gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ASPH gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 444 HGNC: 757 AceView: ASPH Ensembl:ENSG00000198363 euGenes: HUgn444
    ECgene: ASPH H-InvDB: ASPH

    Other Databases showing ASPH gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ASPH gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ASPH Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ASPH Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for ASPH gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ASPH gene:
    Search GeneIP for patents involving ASPH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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