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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
    genome feature page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:126545159-126548754 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 69.25 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    104 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2685014
 protein coding gene Chr7:126544739-126548754 (-)
129S1/SvImJ ENSMUSG00200025125
 protein coding gene Chr7:113056410-113060425 (-)
A/J ENSMUSG00195043264
 protein coding gene Chr7:117572077-117576078 (-)
AKR/J ENSMUSG00220020529
 protein coding gene Chr7:111004771-111008787 (-)
BALB/cJ ENSMUSG00180012858
 protein coding gene Chr7:114245601-114249617 (-)
C3H/HeJ ENSMUSG00175014467
 protein coding gene Chr7:114973114-114977129 (-)
C57BL/6NJ ENSMUSG00215023907
 protein coding gene Chr7:114253067-114257082 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030475
 protein coding gene Chr7:128982472-128986804 (-)
CAST/EiJ ENSTCUG00005046767
 protein coding gene Chr7:117470991-117474977 (-)
CBA/J ENSMUSG00210022818
 protein coding gene Chr7:114734180-114738195 (-)
DBA/2J ENSMUSG00185049195
 protein coding gene Chr7:119047029-119051044 (-)
FVB/NJ ENSMUSG00205020264
 protein coding gene Chr7:114692642-114696657 (-)
JF1/MsJ ENSUMUG00000023767
 protein coding gene Chr7:124100749-124104742 (-)
LP/J ENSMUSG00230052811
 protein coding gene Chr7:125156402-125160417 (-)
NOD/ShiLtJ ENSMUSG00190013367
 protein coding gene Chr7:114893189-114897203 (-)
NZO/HlLtJ ENSMUSG00225012076
 protein coding gene Chr7:123385883-123389898 (-)
PWK/PhJ ENSLUMG00010031947
 protein coding gene Chr7:113240473-113244487 (-)
SPRET/EiJ ENSMSPG00010009667
 protein coding gene Chr7:114511762-114515757 (-)
WSB/EiJ ENSIUOG00005024311
 protein coding gene Chr7:115595048-115599069 (-)



Homology
more
  • Human Ortholog
    ASPHD1, aspartate beta-hydroxylase domain containing 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ASPHD1, aspartate beta-hydroxylase domain containing 1
  • Links
    NCBI Gene ID: 253982
    UniProt: Q5U4P2

  • Chr Location
    16p11.2; chr16:29900363-29919864 (+)  GRCh38
Human Diseases
less
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 1 allele in 1 genetic background
    56 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    1
  • GO References
    1
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
Biological Process

No experimental evidence to support Biological Process annotation, following literature review. See J:73796.
Cellular Component

Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    599
  • Tissues
    1
  • cDNA Data
    8
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 233879 NCBI Gene Model | MGI Sequence Detail 3596 C57BL/6J ±  kb
    transcript NM_001347657 RefSeq | MGI Sequence Detail 1227 C57BL/6  
    polypeptide Q2TA57 UniProt | EBI | MGI Sequence Detail 360 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000029287 aspartate beta-hydroxylase domain-containing protein 1
      (term hierarchy)
    • EC
      1.14.11.-
    • InterPro Domains
      IPR051821 Aspartyl/Asparaginyl beta-hydroxylase domain-containing protein
      IPR007803 Aspartyl/asparaginy/proline hydroxylase
      IPR027443 Isopenicillin N synthase-like superfamily
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 8
      Primer pair 1

      Microarray probesets 2
    References
    more
    • Summaries
      All 78
      Developmental Gene Expression 1
      Diseases 3
      Gene Ontology 1
      Phenotypes 56
    • 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:389705 Hao L, et al., Heart rate and sleep history encode ultradian REM sleep timing. Curr Biol. 2026 Mar 23;36(6):1422-1434.e5
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory