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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 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, HAAH, JCTN, junctin
Human Chr (Location)  8q12.1; chr8:61500556-61714640 (-)  GRCh38
Alleles
and
phenotypes
All 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)
Gene Ontology
(GO)
classifications
All GO classifications: (35 annotations)
Process activation of cysteine-type endopeptidase activity, activation of store-operated calcium channel activity, ...
Component cortical endoplasmic reticulum, cytoplasm, ...
Function calcium ion binding, dioxygenase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (18)    Tissues (12)    Images (1)
Theiler Stages: 11, 13, 17, 20, 22, 24, 26, 28
Assay TypeResults
RT-PCR 18
cDNA source data(26)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(30) cDNA(27) Primer pair(3)
Microarray probesets(14)
Other database
links
VEGA Gene ModelOTTMUSG00000004455 (Evidence)
Ensembl Gene ModelENSMUSG00000028207 (Evidence)
Entrez Gene65973 (Evidence)
DFCITC1575362, TC1580698, TC1586445, TC1586737, TC1590772, TC1590810, TC1591296, TC1594406, TC1595697, TC1604773, TC1614971, TC1631616, TC1637228, TC1709562, TC1736530
EC1.14.11.16
Consensus CDS ProjectCCDS17959.1, CCDS38690.1, CCDS51111.1, CCDS51112.1, CCDS51113.1, CCDS51114.1, CCDS51115.1, CCDS51116.1, CCDS51117.1, CCDS51118.1, CCDS71341.1
International Mouse Knockout Project StatusAsph
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(53)
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
07/15/2014
MGI 5.18
The Jackson Laboratory