Version 5.4
Mus musculus Gene: Asph
Summary
InnateDB Gene IDBG-128916.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Asph
Gene Name aspartate-beta-hydroxylase
Synonyms 2310005F16Rik; 3110001L23Rik; AI848629; AW261690; AW561901; BAH; C79816; cI-37
Species Mus musculus
Ensembl Gene ENSMUSG00000028207
Encoded Proteins
IDBP-128918
aspartate-beta-hydroxylase
IDBP-128922
aspartate-beta-hydroxylase
IDBP-128930
aspartate-beta-hydroxylase
IDBP-128932
aspartate-beta-hydroxylase
IDBP-128934
aspartate-beta-hydroxylase
IDBP-128938
aspartate-beta-hydroxylase
IDBP-264733
aspartate-beta-hydroxylase
IDBP-264735
aspartate-beta-hydroxylase
IDBP-264737
aspartate-beta-hydroxylase
IDBP-264739
aspartate-beta-hydroxylase
IDBP-264741
aspartate-beta-hydroxylase
IDBP-264743
aspartate-beta-hydroxylase
IDBP-540608
aspartate-beta-hydroxylase
IDBP-539188
aspartate-beta-hydroxylase
IDBP-539717
aspartate-beta-hydroxylase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000198363:
This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:9448069-9669344
Strand Reverse strand
Band A1
Transcripts
ENSMUST00000078139 ENSMUSP00000077273
ENSMUST00000084915 ENSMUSP00000081978
ENSMUST00000098275 ENSMUSP00000095876
ENSMUST00000038564 ENSMUSP00000049018
ENSMUST00000103004 ENSMUSP00000100069
ENSMUST00000084912 ENSMUSP00000081975
ENSMUST00000108340 ENSMUSP00000103977
ENSMUST00000108339 ENSMUSP00000103976
ENSMUST00000108337 ENSMUSP00000103974
ENSMUST00000108335 ENSMUSP00000103972
ENSMUST00000108334 ENSMUSP00000103971
ENSMUST00000108333 ENSMUSP00000103970
ENSMUST00000151232
ENSMUST00000124408
ENSMUST00000152058
ENSMUST00000152526 ENSMUSP00000116874
ENSMUST00000146441 ENSMUSP00000116899
ENSMUST00000131605 ENSMUSP00000118518
ENSMUST00000137375
ENSMUST00000130617
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004597 peptide-aspartate beta-dioxygenase activity
GO:0005515 protein binding
GO:0046872 metal ion binding
Biological Process
GO:0007389 pattern specification process
GO:0008285 negative regulation of cell proliferation
GO:0010524 positive regulation of calcium ion transport into cytosol
GO:0018193 peptidyl-amino acid modification
GO:0031585 regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
GO:0031647 regulation of protein stability
GO:0032237 activation of store-operated calcium channel activity
GO:0033198 response to ATP
GO:0035108 limb morphogenesis
GO:0042264 peptidyl-aspartic acid hydroxylation
GO:0045862 positive regulation of proteolysis
GO:0045893 positive regulation of transcription, DNA-templated
GO:0055114 oxidation-reduction process
GO:0060021 palate development
GO:0060325 face morphogenesis
GO:0070588 calcium ion transmembrane transport
GO:0071277 cellular response to calcium ion
GO:0090316 positive regulation of intracellular protein transport
GO:0097202 activation of cysteine-type endopeptidase activity
GO:1901879 regulation of protein depolymerization
Cellular Component
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0032541 cortical endoplasmic reticulum
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000198363
View Gene Order
ENSBTAG00000026283
Not yet available
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL A2AL77 Q9EQ69
UniProt Splice Variant
Entrez Gene 65973
UniGene Mm.222206 Mm.446224 Mm.467674
RefSeq NM_001177849 NM_001177850 NM_001177851 NM_001177852 NM_001177853 NM_001177854 NM_001177855 NM_001177856 NM_001290367 NM_023066 NM_133723 XM_006538153 XM_006538155 XM_006538156 XM_006538157
OMIM
CCDS CCDS17959 CCDS38690 CCDS51111 CCDS51112 CCDS51113 CCDS51114 CCDS51115 CCDS51116 CCDS51117 CCDS51118 CCDS71341
HPRD
IMGT
MGI ID MGI:1914186
MGI Symbol Asph
EMBL AF289199 AL671970 AL732508 AL773548
GenPept AAG40804
RNA Seq Atlas 65973

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca