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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
Location & Maps
more
  • Sequence Map
    Chr4:9448069-9669344 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      221276 bp   ±  kb flank

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

  • Chr Location
    8q12.1; chr8:61500556-61714640 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human ASPH associations

Human Disease Mouse Models
       Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs; FDLAB   OMIM: 601552
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
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000004455 VEGA Gene Model | MGI Sequence Detail 221276 C57BL/6J ±  kb
transcript OTTMUST00000010073 VEGA | MGI Sequence Detail 6694 Not Applicable  
polypeptide OTTMUSP00000004808 VEGA | MGI Sequence Detail 741 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    2222 from dbSNP Build 142
Protein
Information
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  • UniProt
    25 Sequences
  • Protein Ontology
    PR:000004380 aspartyl/asparaginyl beta-hydroxylase
  • EC
  • InterPro Domains
    IPR007803 Aspartyl/asparaginy/proline hydroxylase
    IPR007943 Aspartyl beta-hydroxylase/Triadin domain
    IPR027443 Isopenicillin N synthase-like
    IPR011990 Tetratricopeptide-like helical domain
    IPR019734 Tetratricopeptide repeat
    IPR013105 Tetratricopeptide repeat 2
    IPR013026 Tetratricopeptide repeat-containing domain
Molecular
Reagents
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  • All nucleic 30
    cDNA 27
    Primer pair 3

    Microarray probesets 14
Other
Accession IDs
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MGI:1917495, MGI:1930795, MGI:2135556, MGI:2140566
References
more
  • Summaries
    All 53
    Developmental Gene Expression 6
    Gene Ontology 7
    Phenotypes 9
  • Earliest
    J:66238 Dinchuk JE, et al., Aspartyl beta -hydroxylase (Asph) and an evolutionarily conserved isoform of asph missing the catalytic domain share exons with junctin. J Biol Chem. 2000 Dec 15;275(50):39543-54
  • Latest
    J:223139 Ye J, et al., hnRNP U protein is required for normal pre-mRNA splicing and postnatal heart development and function. Proc Natl Acad Sci U S A. 2015 Jun 9;112(23):E3020-9

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
04/19/2016
MGI 6.03
The Jackson Laboratory