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Asph
Gene Detail
Symbol

Name
ID
Asph
aspartate-beta-hydroxylase
MGI:1914186
Synonyms
2310005F16Rik, 3110001L23Rik, aspartyl beta-hydroxylase, BAH, calsequestrin-binding protein, cI-37, jumbug, junctate, Junctin
Feature Type
protein coding gene
Genetic Map
Chromosome 4
4.17 cM, cytoband A1
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr4:9448069-9669344 bp, - strand
From VEGA annotation of GRCm38

  221276 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20910  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 chicken

Protein SuperFamily: peptide-aspartate beta-dioxygenase
Gene Tree: Asph

Human
homologs
Human Homolog ASPH, aspartate beta-hydroxylase
NCBI Gene ID 444
neXtProt AC  NX_Q12797
Human Synonyms  AAH, BAH, CASQ2BP1, FDLAB, HAAH, JCTN, junctin
Human Chr (Location)  8q12.1; chr8:61500556-61714640 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human ASPH
Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(10) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a mutation lacking aspartyl beta-hydroxylase expression exhibit syndactyly, facial dysmorphology, mild hard palate defects, and reduced female fertility.
 
Phenotype Images(1)
Interactions
Asph interacts with 454 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (5 records)
Data Summary: Results (18)    Tissues (13)    Images (1)    Tissue x Stage Matrix (view)
Assay TypeResults
RT-PCR 18
cDNA source data(26)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(30) cDNA(27) Primer pair(3)
Microarray probesets(14)
Sequences
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 sequences
All sequences(224) RefSeq(44) UniProt(26)
Polymorphisms
SNPs within 2kb(2231 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR007803 Aspartyl/Asparaginyl beta-hydroxylase
InterPro IPR007943 Aspartyl beta-hydroxylase/Triadin domain
InterPro IPR027443 Isopenicillin N synthase-like
InterPro IPR011990 Tetratricopeptide-like helical
InterPro IPR019734 Tetratricopeptide repeat
InterPro IPR013026 Tetratricopeptide repeat-containing domain
InterPro IPR013105 Tetratricopeptide TPR2
Protein Ontology PR:000004380 aspartyl/asparaginyl beta-hydroxylase
References
(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:193822 Lumayag S, et al., Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):E507-16
All references(54)
Other
accession IDs
MGI:1917495, MGI:1930795, MGI:2135556, MGI:2140566

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
10/08/2014
MGI 5.20
The Jackson Laboratory