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    Asph aspartate-beta-hydroxylase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 312981, updated on 2-Nov-2024

    Summary

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    Symbol
    Asphprovided by RGD
    Full Name
    aspartate-beta-hydroxylaseprovided by RGD
    Primary source
    RGD:1312000
    See related
    EnsemblRapid:ENSRNOG00000007445 AllianceGenome:RGD:1312000
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable calcium ion binding activity and peptidyl-aspartic acid 3-dioxygenase activity. Involved in regulation of cytosolic calcium ion concentration. Predicted to be located in endoplasmic reticulum subcompartment; myofibril; and plasma membrane. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in cholangiocarcinoma. Orthologous to human ASPH (aspartate beta-hydroxylase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Muscle (RPKM 178.5), Heart (RPKM 126.0) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Asph in Genome Data Viewer
    Location:
    5q13
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 5 NC_086023.1 (27398933..27611519, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 5 NC_051340.1 (22601581..22814107, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 5 NC_005104.4 (22577680..22799333, complement)

    Chromosome 5 - NC_086023.1Genomic Context describing neighboring genes Neighboring gene U6 spliceosomal RNA Neighboring gene clavesin 1 Neighboring gene uncharacterized LOC134486920 Neighboring gene uncharacterized LOC120102822 Neighboring gene uncharacterized LOC120102823 Neighboring gene uncharacterized LOC134486921 Neighboring gene uncharacterized LOC103692300 Neighboring gene growth differentiation factor 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Immunization with aspartate-β-hydroxylase-loaded dendritic cells produces antitumor effects in a rat model of intrahepatic cholangiocarcinoma. Noda T, et al. Hepatology, 2012 Jan. PMID 21898484, Free PMC Article
    2. Junctin is a prominent regulator of contractility in cardiomyocytes. Fan GC, et al. Biochem Biophys Res Commun, 2007 Jan 19. PMID 17150191, Free PMC Article
    3. Myocyte enhancer factor 2 activates promoter sequences of the human AbetaH-J-J locus, encoding aspartyl-beta-hydroxylase, junctin, and junctate. Feriotto G, et al. Mol Cell Biol, 2005 Apr. PMID 15798210, Free PMC Article
    4. Junctate is a key element in calcium entry induced by activation of InsP3 receptors and/or calcium store depletion. Treves S, et al. J Cell Biol, 2004 Aug 16. PMID 15302852, Free PMC Article
    5. On the role of junctin in cardiac Ca2+ handling, contractility, and heart failure. Gergs U, et al. Am J Physiol Heart Circ Physiol, 2007 Jul. PMID 17400717

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables peptidyl-aspartic acid 3-dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptidyl-aspartic acid 3-dioxygenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in activation of cysteine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in activation of store-operated calcium channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in calcium ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in calcium ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to calcium ion ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within face morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within limb morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within pattern specification process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in peptidyl-aspartic acid hydroxylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within peptidyl-aspartic acid hydroxylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of calcium ion transport into cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of intracellular protein transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of proteolysis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of cytosolic calcium ion concentration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cytosolic calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of protein depolymerization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of protein stability ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to ATP ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within roof of mouth development ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cortical endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in junctional sarcoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in myofibril ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sarcoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    aspartyl/asparaginyl beta-hydroxylase
    Names
    junctate
    junctin
    NP_001091709.1
    NP_001388868.1
    XP_006237921.1
    XP_006237922.1
    XP_006237923.1
    XP_006237924.1
    XP_006237925.1
    XP_008761797.1
    XP_038965701.1
    XP_063143596.1
    XP_063143597.1
    XP_063143598.1
    XP_063143599.1
    XP_063143600.1
    XP_063143601.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001098239.1 → NP_001091709.1  aspartyl/asparaginyl beta-hydroxylase isoform 2

      Status: VALIDATED

      Source sequence(s)
      BC085901
      UniProtKB/TrEMBL
      Q5U2Q8
      Conserved Domains (1) summary
      pfam05279
      Location:25 → 187
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    2. NM_001401939.1 → NP_001388868.1  aspartyl/asparaginyl beta-hydroxylase isoform 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000005
      UniProtKB/TrEMBL
      A0A096MKE0
      Related
      ENSRNOP00000068479.1, ENSRNOT00000076426.4

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086023.1 Reference GRCr8

      Range
      27398933..27611519 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006237861.5 → XP_006237923.1  aspartyl/asparaginyl beta-hydroxylase isoform X3

      See identical proteins and their annotated locations for XP_006237923.1

      UniProtKB/TrEMBL
      A0A096MJA9, A0A8I5ZX44
      Related
      ENSRNOP00000082407.2, ENSRNOT00000118158.2
      Conserved Domains (6) summary
      PHA02664
      Location:130 → 224
      PHA02664; hypothetical protein; Provisional
      pfam05279
      Location:61 → 264
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
      sd00006
      Location:399 → 423
      TPR; TPR repeat [structural motif]
      pfam05118
      Location:532 → 685
      Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
      pfam13428
      Location:286 → 325
      TPR_14; Tetratricopeptide repeat
      pfam13432
      Location:286 → 356
      TPR_16; Tetratricopeptide repeat

    2. XM_006237862.5 → XP_006237924.1  aspartyl/asparaginyl beta-hydroxylase isoform X4

      See identical proteins and their annotated locations for XP_006237924.1

      UniProtKB/TrEMBL
      A0A0G2K2B5
      Conserved Domains (6) summary
      PHA02664
      Location:109 → 203
      PHA02664; hypothetical protein; Provisional
      pfam05279
      Location:25 → 243
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
      sd00006
      Location:378 → 402
      TPR; TPR repeat [structural motif]
      pfam05118
      Location:511 → 664
      Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
      pfam13428
      Location:265 → 304
      TPR_14; Tetratricopeptide repeat
      pfam13432
      Location:265 → 335
      TPR_16; Tetratricopeptide repeat

    3. XM_006237859.5 → XP_006237921.1  aspartyl/asparaginyl beta-hydroxylase isoform X1

      See identical proteins and their annotated locations for XP_006237921.1

      UniProtKB/TrEMBL
      A0A0G2K2B5
      Conserved Domains (6) summary
      PHA02664
      Location:92 → 241
      PHA02664; hypothetical protein; Provisional
      pfam05279
      Location:25 → 281
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
      sd00006
      Location:416 → 440
      TPR; TPR repeat [structural motif]
      pfam05118
      Location:549 → 702
      Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
      pfam13428
      Location:303 → 342
      TPR_14; Tetratricopeptide repeat
      pfam13432
      Location:303 → 373
      TPR_16; Tetratricopeptide repeat

    4. XM_063287526.1 → XP_063143596.1  aspartyl/asparaginyl beta-hydroxylase isoform X5

    5. XM_006237860.5 → XP_006237922.1  aspartyl/asparaginyl beta-hydroxylase isoform X2

      See identical proteins and their annotated locations for XP_006237922.1

      UniProtKB/TrEMBL
      A0A0G2K2B5
      Related
      ENSRNOP00000072176.3, ENSRNOT00000083779.3
      Conserved Domains (6) summary
      PHA02664
      Location:77 → 226
      PHA02664; hypothetical protein; Provisional
      pfam05279
      Location:25 → 266
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
      sd00006
      Location:401 → 425
      TPR; TPR repeat [structural motif]
      pfam05118
      Location:534 → 687
      Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
      pfam13428
      Location:288 → 327
      TPR_14; Tetratricopeptide repeat
      pfam13432
      Location:288 → 358
      TPR_16; Tetratricopeptide repeat

    6. XM_063287527.1 → XP_063143597.1  aspartyl/asparaginyl beta-hydroxylase isoform X6

    7. XM_063287529.1 → XP_063143599.1  aspartyl/asparaginyl beta-hydroxylase isoform X9

      UniProtKB/TrEMBL
      A0A096MK70

    8. XM_039109773.2 → XP_038965701.1  aspartyl/asparaginyl beta-hydroxylase isoform X7

      Conserved Domains (1) summary
      pfam05279
      Location:61 → 377
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    9. XM_063287528.1 → XP_063143598.1  aspartyl/asparaginyl beta-hydroxylase isoform X8

    10. XM_006237863.5 → XP_006237925.1  aspartyl/asparaginyl beta-hydroxylase isoform X10

      See identical proteins and their annotated locations for XP_006237925.1

      Conserved Domains (1) summary
      pfam05279
      Location:61 → 223
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    11. XM_063287530.1 → XP_063143600.1  aspartyl/asparaginyl beta-hydroxylase isoform X11

    12. XM_008763575.4 → XP_008761797.1  aspartyl/asparaginyl beta-hydroxylase isoform X12

      See identical proteins and their annotated locations for XP_008761797.1

      UniProtKB/TrEMBL
      A0A8I5ZX27
      Conserved Domains (1) summary
      pfam05279
      Location:61 → 153
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

    13. XM_063287531.1 → XP_063143601.1  aspartyl/asparaginyl beta-hydroxylase isoform X13

    RNA

    1. XR_010066377.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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