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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
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:9449085-9669344 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 4.17 cM, cytoband A1
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6961 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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ASPH, aspartate beta-hydroxylase
  • 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
Human Diseases
more
  • Diseases
    1 with human ASPH associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

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
    11 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.
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
less
  • All GO Annotations
    39
  • GO References
    9
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
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
    737
  • Tissues
    24
  • cDNA Data
    27
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    • UniProt
      24 Sequences
    • Protein Ontology
      PR:000004380 aspartyl/asparaginyl beta-hydroxylase
      (term hierarchy)
    • EC
      1.14.11.16
    • InterPro Domains
      IPR039038 Aspartyl/asparaginyl beta-hydroxylase family
      IPR007803 Aspartyl/asparaginy/proline hydroxylase
      IPR007943 Aspartyl beta-hydroxylase/Triadin domain
      IPR027443 Isopenicillin N synthase-like superfamily
      IPR011990 Tetratricopeptide-like helical domain superfamily
      IPR019734 Tetratricopeptide repeat
    • GlyGen
      Q8BSY0 6 sites, 6 N-linked glycans (5 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 34
      cDNA 28
      Primer pair 5
      Other 1

      Microarray probesets 14
    Other
    Accession IDs
    less
    MGI:1917495, MGI:1930795, MGI:2135556, MGI:2140566
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 8
      Gene Ontology 9
      Phenotypes 11
    • 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:281311 Nakano Y, et al., Overlapping Activities of Two Neuronal Splicing Factors Switch the GABA Effect from Excitatory to Inhibitory by Regulating REST. Cell Rep. 2019 Apr 16;27(3):860-871.e8
    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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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory