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ASPH Gene

protein-coding   GIFtS: 60
GCID: GC08M062465

Aspartate Beta-Hydroxylase

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NT_008183.20  NC_018919.2  
Regulatory elements:
   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 Chromatin IP Primers for ASPH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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: 

  • Glycosylation2 at Asn452, Asn706
  • Modification sites at PhosphoSitePlus

  • See ASPH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

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    Novus Biologicals ASPH Proteins
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    Cloud-Clone Corp. Proteins for ASPH

    ASPH Antibody Products:

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    Novus Biologicals ASPH Antibodies
    Abcam antibodies for ASPH
    Cloud-Clone Corp. Antibodies for ASPH
    Search ThermoFisher Antibodies for ASPH
    LSBio Antibodies in human, mouse, rat for ASPH

    ASPH Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ASPH
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ASPH
    Cloud-Clone Corp. CLIAs for ASPH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR007943 Asp-B-hydro/Triadin_dom
     IPR007803 Asp_Arg_Pro-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


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 7):    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: Let us create your new Knockout/Knockin mouse model for ASPH
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
        
    miRTarBase miRNAs that target ASPH:
    hsa-mir-215-5p (MIRT024363), hsa-mir-16-5p (MIRT031802), hsa-mir-192-5p (MIRT026731), hsa-mir-155-5p (MIRT020908)

    Block miRNA regulation of human, mouse, rat ASPH using miScript Target Protectors
    Selected qRT-PCR 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 plasmidASPH 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ASPH
    Predesigned siRNA for gene silencing in human, mouse, rat ASPH

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ASPH

    Clone
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    OriGene clones in human, mouse for ASPH (see all 74)
    OriGene ORF clones in mouse, rat for ASPH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ASPH 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPH


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ASPH_HUMAN, Q12797: Isoform 1: Endoplasmic reticulum membrane; Single-pass type II membrane protein
    ASPH_HUMAN, Q12797: Isoform 8: Endoplasmic reticulum membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane5
    cytosol2
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

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

    ASPH for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ASPH
    Interactions:

        GeneGlobe Interaction Network for ASPH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for ASPH (Q127973 ENSP000003687674) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    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): Selected biological process terms (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005513detection of calcium ion TAS--
    GO:0006936muscle contraction TAS10974562
    GO:0007389pattern specification process IEA--
    GO:0008285negative regulation of cell proliferation IEA--
    GO:0010524positive regulation of calcium ion transport into cytosol IDA--

    ASPH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    ASPH for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Selected 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
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    Selected qRT-PCR 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 plasmidASPH 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ASPH
    Predesigned siRNA for gene silencing in human, mouse, rat ASPH
    Clone
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    OriGene clones in human, mouse for ASPH (see all 74)
    OriGene ORF clones in mouse, rat for ASPH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 12): ASPH (NM_032466)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASPH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPH
    Primer
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    OriGene qPCR primer pairs and template standards for ASPH
    OriGene qSTAR qPCR primer pairs in human, mouse for ASPH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ASPH
      QuantiTect SYBR Green Assays in human, mouse, rat ASPH
      QuantiFast Probe-based Assays in human, mouse, rat ASPH

    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 

    Selected 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 

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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
     selected tissues (see all 3) fully expand
     
     NULL (Uncategorized)
             Adipose-derived stromal vascular fraction and adipocytes (HiQCell)
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Skeletal Muscle (Muscoskeletal System)
    ASPH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ASPH Protein Expression

    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)

        Custom PCR Arrays for ASPH
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ASPH gene from Selected 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 82.9(n)1
    84(a)1
      4 (4.17 cM)5
    659731  NM_023066.31  NP_075553.21 
     94480695 
    chicken
    (Gallus gallus)
    Aves ASPH1 aspartate beta-hydroxylase 70.7(n)
    70.24(a)
      421142  XM_004939873.1  XP_004939930.1 
    lizard
    (Anolis carolinensis)
    Reptilia ASPH6
    aspartate beta-hydroxylase
    60(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 ASPH6
    aspartate beta-hydroxylase
    73(a)
    1 ↔ 1
    7(59431589-59452320) ENSDARG00000078703
    fruit fly
    (Drosophila melanogaster)
    Insecta Asph6
    Aspartyl beta-hydroxylase
    28(a)
    1 → many
    2R(11997990-12004501)
    worm
    (Caenorhabditis elegans)
    Secernentea K09A9.66
    Protein K09A9.6, isoform b
    16(a)
    1 → many
    X(15577470-15586816) WBGene00010703


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

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

    ASPH for paralogs           About GeneDecksing



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ASPH (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ASPH
    DNA2.0 Custom Variant and Variant Library Synthesis for ASPH

    (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.)
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    OMIM gene information: 600582    OMIM disorders: --

    20 diseases for ASPH:    About MalaCards
    regular astigmatism    catecholaminergic polymorphic ventricular tachycardia    malignant hyperthermia susceptibility    astigmatism
    malignant hyperthermia    conn's syndrome    cholangiocarcinoma    alcoholic hepatitis
    pregnancy loss    intrahepatic cholangiocarcinoma    bipolar disorder    hepatocellular carcinoma
    myopathy    type 1 diabetes    neuroblastoma    schizophrenia
    hypoxia    hepatitis    malaria    neuronitis

    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

    (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)
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    PubMed articles for ASPH gene, integrated from 10 sources (see all 103):
    (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. (Gene 2000)
    2. Cloning and characterization of the human gene encoding aspartyl beta-hydroxylase. (PubMed id 7821814)1, 2, 3, 9 Korioth F.... Frey J. (Gene 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. (J. Biol. Chem. 2000)
    4. Molecular cloning of junctin from human and developing rabbit heart. (PubMed id 10767180)1, 2, 9 Wetzel G.T.... Chen F. (Mol. Genet. Metab. 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. (J. Biol. Chem. 2000)
    6. Junctate is a Ca2+-sensing structural component of Orai1 and stromal interaction molecule 1 (STIM1). (PubMed id 22586105)1, 2 Srikanth S.... Gwack Y. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Overexpression of human aspartyl(asparaginyl)beta-hydroxylase in hepatocellular carcinoma and cholangiocarcinoma. (PubMed id 8823296)1, 2 Lavaissiere L.... Friedman P.A. (J. Clin. Invest. 1996)
    9. On the role of junctin in cardiac Ca2+ handling, contractility, and heart failure. (PubMed id 17400717)1, 9 Gergs U....Neumann J. (Am. J. Physiol. Heart Circ. Physiol. 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. (J. Biol. Chem. 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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