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Asphd1 Gene Detail
Summary
  • Symbol
    Asphd1
  • Name
    aspartate beta-hydroxylase domain containing 1
  • Synonyms
    A830007L07Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2685014
    NCBI Gene: 233879
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:126945567-126949582 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 69.25 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    40 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2685014
protein coding gene Chr7:126945567-126950322 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033009
protein coding gene Chr7:131255899-131261280 (-)
A/J MGP_AJ_G0032992
protein coding gene Chr7:127773244-127777245 (-)
AKR/J MGP_AKRJ_G0032924
protein coding gene Chr7:131007338-131011187 (-)
BALB/cJ MGP_BALBcJ_G0032997
protein coding gene Chr7:127436322-127440335 (-)
C3H/HeJ MGP_C3HHeJ_G0032707
protein coding gene Chr7:130946810-130951792 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033503
protein coding gene Chr7:136360935-136364921 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030475
protein coding gene Chr7:128982472-128986804 (-)
CAST/EiJ MGP_CASTEiJ_G0032036
protein coding gene Chr7:122735054-122739040 (-)
CBA/J MGP_CBAJ_G0032680
protein coding gene Chr7:140947167-140951143 (-)
DBA/2J MGP_DBA2J_G0032832
protein coding gene Chr7:125747463-125751312 (-)
FVB/NJ MGP_FVBNJ_G0032785
protein coding gene Chr7:125597509-125601487 (-)
LP/J MGP_LPJ_G0032926
protein coding gene Chr7:132720345-132725614 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032817
protein coding gene Chr7:142114976-142118989 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033522
protein coding gene Chr7:130022982-130027402 (-)
PWK/PhJ MGP_PWKPhJ_G0031743
protein coding gene Chr7:118742746-118746717 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031589
protein coding gene Chr7:116862634-116866602 (-)
WSB/EiJ MGP_WSBEiJ_G0032148
protein coding gene Chr7:130999547-131003567 (-)



Homology
more
  • Human Ortholog
    ASPHD1, aspartate beta-hydroxylase domain containing 1
  • Human Ortholog
    ASPHD1, aspartate beta-hydroxylase domain containing 1
    Orthology source: HGNC
  • Links
    NCBI Gene ID: 253982
    neXtProt AC: NX_Q5U4P2
    UniProt: Q5U4P2

  • Chr Location
    16p11.2; chr16:29900392-29919860 (+)  GRCh38.p7

Human Diseases
less
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    18 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000046378 Ensembl Gene Model | MGI Sequence Detail 4016 C57BL/6J ±  kb
transcript ENSMUST00000106340 Ensembl | MGI Sequence Detail 1647 Not Applicable  
polypeptide ENSMUSP00000101947 Ensembl | MGI Sequence Detail 360 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 8
    cDNA 8

    Microarray probesets 2
References
more
  • Summaries
    All 40
    Developmental Gene Expression 1
    Diseases 3
    Gene Ontology 2
    Phenotypes 18
  • Earliest
    J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
  • Latest
    J:271893 Antoine MW, et al., Increased Excitation-Inhibition Ratio Stabilizes Synapse and Circuit Excitability in Four Autism Mouse Models. Neuron. 2019 Feb 20;101(4):648-661.e4

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory