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

Gene ID: 233879, updated on 5-Mar-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 involved in peptidyl-amino acid modification. Predicted to be located in membrane. Predicted to be integral component of membrane. Orthologous to human ASPHD1 (aspartate beta-hydroxylase domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
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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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. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
  4. 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
  5. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073

See all (12) 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)
  • Targeted (1) 
  • Endonuclease-mediated (2) 

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
  
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in peptidyl-amino acid modification IEA
Inferred from Electronic Annotation
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

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