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Asph Gene Detail
Summary
  • Symbol
    Asph
  • Name
    aspartate-beta-hydroxylase
  • Synonyms
    2310005F16Rik, 3110001L23Rik, aspartyl beta-hydroxylase, BAH, calsequestrin-binding protein, cI-37, jumbug, junctate, Junctin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914186
    NCBI Gene: 65973
  • Gene Overview
    MyGene.info: ASPH
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:9449085-9669344 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 4.17 cM, cytoband A1
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2213 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914186
protein coding gene Chr4:9448069-9669344 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028042
protein coding gene Chr4:6079032-6302747 (-)
A/J MGP_AJ_G0028000
protein coding gene Chr4:5924516-6143796 (-)
AKR/J MGP_AKRJ_G0027966
protein coding gene Chr4:6005963-6222853 (-)
BALB/cJ MGP_BALBcJ_G0028012
protein coding gene Chr4:5915821-6127180 (-)
C3H/HeJ MGP_C3HHeJ_G0027742
protein coding gene Chr4:6182625-6404493 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028455
protein coding gene Chr4:6405644-6633231 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025799
protein coding gene Chr4:5603668-5810091 (-)
CAST/EiJ MGP_CASTEiJ_G0027196
protein coding gene Chr4:6028727-6248205 (-)
CBA/J MGP_CBAJ_G0027717
protein coding gene Chr4:6504549-6738999 (-)
DBA/2J MGP_DBA2J_G0027857
protein coding gene Chr4:5899480-6108365 (-)
FVB/NJ MGP_FVBNJ_G0027824
protein coding gene Chr4:5775111-5986637 (-)
LP/J MGP_LPJ_G0027968
protein coding gene Chr4:6105013-6319716 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027857
protein coding gene Chr4:6694911-6928635 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028514
protein coding gene Chr4:5999370-6224843 (-)
PWK/PhJ MGP_PWKPhJ_G0026917
protein coding gene Chr4:5923801-6131447 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026747
protein coding gene Chr4:5964361-6178134 (-)
WSB/EiJ MGP_WSBEiJ_G0027275
protein coding gene Chr4:6118607-6330426 (-)



Homology
more
  • Human Ortholog
    ASPH, aspartate beta-hydroxylase
  • Vertebrate Orthologs
    7
  • Human Ortholog
    ASPH, aspartate beta-hydroxylase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AAH, BAH, CASQ2BP1, FDLAB, HAAH, JCTN, junctin
  • Links
    NCBI Gene ID: 444
    neXtProt AC: NX_Q12797
    UniProt: Q12797

  • Chr Location
    8q12.3; chr8:61500556-61714640 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 2 alleles in 3 genetic backgrounds
    2 phenotypes from multigenic genotypes
    1 images
    9 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for a mutation lacking aspartyl beta-hydroxylase expression exhibit syndactyly, facial dysmorphology, mild hard palate defects, and reduced female fertility.
Gene Ontology
(GO)
Classifications
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  • 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 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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 65973 NCBI Gene Model | MGI Sequence Detail 220260 C57BL/6J ±  kb
    transcript NM_023066 RefSeq | MGI Sequence Detail 6688 C57BL/6  
    polypeptide Q8BSY0 UniProt | EBI | MGI Sequence Detail 741 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 32
      cDNA 28
      Primer pair 3
      Other 1

      Microarray probesets 14
    Other
    Accession IDs
    less
    MGI:1917495, MGI:1930795, MGI:2135556, MGI:2140566
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 7
      Gene Ontology 7
      Phenotypes 9
    • Earliest
      J:68975 Jones LR, et al., Purification, primary structure, and immunological characterization of the 26-kDa calsequestrin binding protein (junctin) from cardiac junctional sarcoplasmic reticulum. J Biol Chem. 1995 Dec 22;270(51):30787-96
    • Latest
      J:238763 Choo HJ, et al., Karyopherin Alpha 1 Regulates Satellite Cell Proliferation and Survival by Modulating Nuclear Import. Stem Cells. 2016 Nov;34(11):2784-2797

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory