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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
    gene 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
    18
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 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
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ASPHD1, aspartate beta-hydroxylase domain containing 1
  • Links
    NCBI Gene ID: 253982
    neXtProt AC: NX_Q5U4P2
    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
    9 phenotypes from 1 allele in 1 genetic background
    43 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
    2
  • GO References
    2
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

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

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
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
    708
  • 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 65
      Developmental Gene Expression 1
      Diseases 3
      Gene Ontology 2
      Phenotypes 43
    • 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:349484 Henis M, et al., The autism susceptibility kinase, TAOK2, phosphorylates eEF2 and modulates translation. Sci Adv. 2024 Apr 12;10(15):eadf7001
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory