Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

ASPH Gene

protein-coding   GIFtS: 54
GCID: GC08M062465

aspartate beta-hydroxylase

 Explore 25 diseases affiliated with
ASPH via our new
 Human Malady Compendium 
Biological research products
for ASPH
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Aspartate Beta-Hydroxylase1 2 3     A Beta H-J-J2
HAAH1 2 5     Aspartyl/Asparaginyl Beta-Hydroxylase2
BAH1 2     Aspartyl/Asparaginyl-Beta-Hydroxylase1
CASQ2BP11 2     Cardiac Junctin2
JCTN1 2     Humbug1
Peptide-Aspartate Beta-Dioxygenase2 3     Junctate1
ASP Beta-Hydroxylase2 3     Junctin1
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ASPH:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_008183.19  
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

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 B7ZM95 E5RGP5 Q6NXR7 Q8TB28 Q9H291 Q9H2C4 Q9NRI0 Q9NRI1
Q9Y4J0
Alternative splicing: 9 isoforms:  Q12797-1   Q12797-2   Q12797-3   Q12797-4   Q12797-5   Q12797-6   Q12797-7   Q12797-8   
Q12797-9   (Glycosylated on Asn-64)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q12797

  • ASPH Protein expression data from MOPED and PaxDb:    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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins (see all 3): ASPH
    OriGene Protein Over-expression Lysate (see all 4): ASPH
    OriGene Custom Protein Services for ASPH 
    GenScript Custom Purified and Recombinant Proteins Services for ASPH
    Novus Biologicals ASPH Proteins
    Novus Biologicals ASPH Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for ASPH
    Uscn Proteins for ASPH

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum TAS10974562
    GO:0005789endoplasmic reticulum membrane NAS11007777
    GO:0005886plasma membrane IDA--
    GO:0014701junctional sarcoplasmic reticulum membrane TAS17569730
    GO:0016020membrane ----

    ASPH for ontologies           About GeneDecksing



    ASPH Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for ASPH 
    GenScript Custom Superior Antibodies Services for ASPH
    Novus Biologicals ASPH Antibodies
    Abcam antibodies for ASPH 
    Uscn Antibodies for ASPH
    Search ThermoFisher Antibodies for ASPH

    Assay Products for ASPH: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ASPH
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ASPH


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ASPH for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR007943 Asp-B-hydro/Triadin_dom
     IPR007803 Asp_Arg_b-Hydrxlase
     IPR011990 TPR-like_helical
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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): 5/7 molecular function terms (GO ID links to tree view) (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:
         Mouse knock-outs for ASPH: Asphtm1Egk Asphtm1Jed
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ASPH 

    miRNA
    Products:
        
    OriGene 3'-UTR Clone (see all 12): ASPH
    Browse MicroRNA Expression Plasmids
    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 plasmidASPH 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ASPH (see all 7)
    OriGene shRNA RFP: ASPH
    OriGene siRNA: ASPH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ASPH
    Sirion Biotech Custom design and validation of potent shRNA sequences against ASPH 

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

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ASPH (see all 22)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ASPH (see all 13)
    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASPH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPH 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ASPH
    Search LifeMap BioReagents cell lines for ASPH
    Sirion Biotech Customized stable knockdown cell line services for ASPH 
    Sirion Biotech Customized inducible knockdown cell line services for ASPH
    Sirion Biotech Customized stable overexpressing cell line services for ASPH
    Sirion Biotech Customized inducible overexpressing cell line services for ASPH

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPH


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction TAS10974562
    GO:0007389pattern specification process IEA--
    GO:0008150biological_process ND--
    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 HMDB, BitterDB, and/or Novoseek, 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 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 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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:
         
    OriGene 3'-UTR Clone (see all 12): ASPH
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmidASPH 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ASPH (see all 7)
    OriGene shRNA RFP: ASPH
    OriGene siRNA: ASPH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ASPH
    Sirion Biotech Custom design and validation of potent shRNA sequences against ASPH 
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ASPH (see all 22)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ASPH (see all 13)
    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
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ASPH
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ASPH
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ASPH
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASPH

    Additional cDNA 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 

    24/43 DOTS entries (see all 43):

    DT.95137827  DT.100828247  DT.75142168  DT.91747937  DT.100717633  DT.97791318  DT.121476279  DT.91806352 
    DT.100828251  DT.100031688  DT.75144670  DT.121476264  DT.100828250  DT.101983609  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):

    BM763240 BM795015 BE671112 AA593699 BF149386 CA416660 BX111251 CR600401 
    AI401528 BU175716 CA442770 AI473329 AI963192 BQ181232 CK724966 AI381305 
    BM983246 AI873725 BQ318605 AA676497 AL694159 BE018154 CB107396 AI636729 

    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™, 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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGTACTCGAT
    ASPH Expression
    About this image
    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)

        SABiosciences Custom PCR Arrays for ASPH
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ASPH
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ASPH
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ASPH
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASPH
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPH

    (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 7/18 species (see all 18)    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
    --
    83(a)
    1 ↔ 1
    4(28939423-28976735)
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ASPH gene
    ASPHD22  ASPHD12  
    1 SIMAP similar gene for ASPH using alignment to 13 protein entries:     ASPH_HUMAN (see all proteins):
    ASPHD1

    ASPH for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/3461 NCBI SNPs in ASPH are shown (see all 3461    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs736850681,2
    C--57901146(+) TGCAAA/GGTTTG 2 -- ds50012Minor allele frequency- G:0.05WA 120
    rs795501601,2
    C--57901166(+) ATGATA/TTCCTG 2 -- ds50012Minor allele frequency- T:0.06WA 120
    rs606899291,2
    C,F--57901167(+) TGATAT/GCCTGC 2 -- ds50011Minor allele frequency- G:0.06WA 118
    rs736850691,2
    C--57901714(+) TGTTTT/GCCAAG 2 -- ut312Minor allele frequency- G:0.04WA 120
    rs736850701,2
    C--57901779(+) GTATTT/GATTAG 2 -- ut312Minor allele frequency- G:0.05WA 120
    rs1137109711,2
    C--57902037(+) ATAACA/GGAAGT 2 -- ut312Minor allele frequency- G:0.07WA 120
    rs115391051,2
    C--57902846(+) AAAAGG/TGTCAA 2 -- ut312Minor allele frequency- T:0.05WA 120
    rs784108791,2
    --57903035(+) TTCTTA/GTATCT 2 -- ut311Minor allele frequency- G:0.01NA 120
    rs726570801,2
    C,F--57903073(+) ATATAC/GAAAAT 2 -- ut311Minor allele frequency- G:0.03NA 120
    rs736850711,2
    C--57903117(+) TGATCG/ATCTTT 2 -- ut311Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for ASPH (62413115 - 62627199 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ASPH
         2 CNVs: 95470 65150

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ASPH for disorders           About GeneDecksing

    OMIM gene information: 600582    OMIM disorders: --

    20/25 diseases for ASPH (see all 25):    About MalaCards
    catecholaminergic polymorphic ventricular tachycardia    regular astigmatism    ventricular tachycardia    non-small cell lung carcinoma
    malignant hyperthermia    malignant hyperthermia susceptibility    bile duct cancer    conn's syndrome
    adrenal hyperplasia    intrahepatic cholangiocarcinoma    alcoholic hepatitis    cholangiocarcinoma
    bipolar disorder    hepatocellular carcinoma    lung carcinoma    alcoholism
    colon cancer    gastric cancer    myopathy    carcinoma

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

    5 Novoseek 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)


    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)
    About This Section

    PubMed articles for ASPH gene, integrated from 9 sources (see all 96):
    (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. 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)
    10. The role of calsequestrin, triadin, and junctin in conferring cardiac ryanodine receptor responsiveness to luminal calcium. (PubMed id 15041652)1, 9 Gyorke I....Gyorke S. (2004)

    (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)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for ASPH  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ASPH   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ASPH  
     OriGene Protein Over-expression Lysate for ASPH   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for ASPH   OriGene 3'-UTR Clone for ASPH  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ASPH   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ASPH  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for ASPH   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ASPH   OriGene Custom Protein Services for ASPH  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ASPH
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ASPH
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASPH
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ASPH
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASPH
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ASPH
     GenScript Custom Purified and Recombinant Proteins Services for ASPH GenScript cDNA clones with any tag delivered in your preferred vector for ASPH
     GenScript Custom Assay Services for ASPH GenScript Custom Superior Antibodies Services for ASPH
     GenScript Custom overexpressing Cell Line Services for ASPH CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in ASPH promoter
     Search Chromatin IP Primers for ASPH
     RT2 qPCR Primer Assay in human, mouse, rat ASPH
     GNC Network for ASPH
     SABiosciences Custom PCR Arrays for ASPH
     Search Tocris compounds for ASPH
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ASPH antibodies
     ASPH proteins
     ASPH lysates
     Antibodies for ASPH
     See all of Abcam's Antibodies, Kits and Proteins for ASPH
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for ASPH




     ASPH Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for ASPH
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPH
     SwitchGear 3'UTR luciferase reporter plasmids for ASPH
     SwitchGear Promoter luciferase reporter plasmids for ASPH
     Search ThermoFisher Antibodies for ASPH
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPH
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ASPH
    Sirion Biotech Customized:
     stable knockdown cell line services for ASPH
     inducible knockdown cell line services for ASPH
     design and validation of potent shRNA sequences against ASPH
     adenovirus for potent knockdown of ASPH
     adenovirus for overexpression of ASPH
     stable overexpressing cell line services for ASPH
     inducible overexpressing cell line services for ASPH
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ASPH gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4