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    Asphd1 aspartate beta-hydroxylase domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 233879, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Asphd1provided by MGI
    Official Full Name
    aspartate beta-hydroxylase domain containing 1provided by MGI
    Primary source
    MGI:MGI:2685014
    See related
    Ensembl:ENSMUSG00000046378 AllianceGenome:MGI:2685014
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gm168; A830007L07Rik
    Summary
    Predicted to enable dioxygenase activity. Predicted to be located in membrane. Orthologous to human ASPHD1 (aspartate beta-hydroxylase domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in cortex adult (RPKM 7.6), cerebellum adult (RPKM 7.5) and 7 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Asphd1 in Genome Data Viewer
    Location:
    7 F3; 7 69.25 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (126545159..126548754, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (126945987..126949582, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 219 Neighboring gene predicted gene, 23445 Neighboring gene STARR-positive B cell enhancer ABC_E10477 Neighboring gene potassium channel tetramerisation domain containing 13 Neighboring gene seizure related 6 homolog like 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:134119536-134119823 Neighboring gene CDIP transferase, opposite strand

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene. Mattiske T, et al. Hum Mol Genet, 2016 Dec 15. PMID 27798109
    2. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, Free PMC Article
    3. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article
    4. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
    5. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (1) 

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC130534

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables dioxygenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    aspartate beta-hydroxylase domain-containing protein 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_001039645.2 → NP_001034734.1  aspartate beta-hydroxylase domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001034734.1

      Status: VALIDATED

      Source sequence(s)
      AK043553, BC111101, BE950878
      Consensus CDS
      CCDS40134.1
      UniProtKB/Swiss-Prot
      Q2TA57
      Related
      ENSMUSP00000101946.2, ENSMUST00000106339.2
      Conserved Domains (1) summary
      pfam05118
      Location:1 → 91
      Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase

    2. NM_001347657.2 → NP_001334586.1  aspartate beta-hydroxylase domain-containing protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC122863
      Consensus CDS
      CCDS85417.1
      UniProtKB/Swiss-Prot
      Q2TA57
      Related
      ENSMUSP00000101947.2, ENSMUST00000106340.8

    3. NM_001361488.1 → NP_001348417.1  aspartate beta-hydroxylase domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK043553, BE950878
      Consensus CDS
      CCDS40134.1
      Related
      ENSMUSP00000049848.6, ENSMUST00000052937.12
      Conserved Domains (1) summary
      pfam05118
      Location:1 → 91
      Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      126545159..126548754 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2TA57.2 GenPept UniProtKB/Swiss-Prot:Q2TA57

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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