Homo sapiens Gene: ASPH
Summary
InnateDB Gene IDBG-23064.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ASPH
Gene Name aspartate beta-hydroxylase
Synonyms AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN; junctin;
Species Homo sapiens
Ensembl Gene ENSG00000198363
Encoded Proteins
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
aspartate beta-hydroxylase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 8:61500556-61714640
Strand Reverse strand
Band q12.3
Transcripts
ENST00000379454 ENSP00000368767
ENST00000356457 ENSP00000348841
ENST00000389204 ENSP00000373856
ENST00000379449 ENSP00000368762
ENST00000445642 ENSP00000394013
ENST00000521909
ENST00000524173 ENSP00000479945
ENST00000521499
ENST00000522349 ENSP00000429718
ENST00000523897
ENST00000523927 ENSP00000478706
ENST00000522919 ENSP00000430516
ENST00000519234 ENSP00000427823
ENST00000518068 ENSP00000429286
ENST00000517903 ENSP00000430245
ENST00000518441
ENST00000522835 ENSP00000429160
ENST00000519678 ENSP00000483443
ENST00000517847 ENSP00000429954
ENST00000519264 ENSP00000479830
ENST00000518306 ENSP00000427877
ENST00000520198
ENST00000517856 ENSP00000429743
ENST00000517928
ENST00000522603 ENSP00000436188
ENST00000517661 ENSP00000428060
ENST00000522325
ENST00000522036
ENST00000522343
ENST00000541428 ENSP00000437864
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004597 peptide-aspartate beta-dioxygenase activity
GO:0005198 structural molecule activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008307 structural constituent of muscle
GO:0009055 electron carrier activity
GO:0044325 ion channel binding
Biological Process
GO:0005513 detection of calcium ion
GO:0006936 muscle contraction
GO:0007389 pattern specification process
GO:0008285 negative regulation of cell proliferation
GO:0010524 positive regulation of calcium ion transport into cytosol
GO:0010649 regulation of cell communication by electrical coupling
GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
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:0060314 regulation of ryanodine-sensitive calcium-release channel activity
GO:0060316 positive regulation of ryanodine-sensitive calcium-release channel activity
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:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0014701 junctional sarcoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0032541 cortical endoplasmic reticulum
GO:0033017 sarcoplasmic reticulum membrane
GO:0033018 sarcoplasmic reticulum lumen
GO:0034704 calcium channel complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
Hypoxia-inducible factor in the cardivascular system [Biocarta view]
PID NCI
Cross-References
SwissProt Q12797
TrEMBL
UniProt Splice Variant
Entrez Gene 444
UniGene Hs.332422 Hs.622390 Hs.685222 Hs.733252
RefSeq NM_001164755 NM_004318 NM_032466 NM_001164751 NM_001164752 NM_032468 NM_001164753 NM_020164 NM_032467 NM_001164756 NM_001164750 NM_001164754 XM_006716449 XM_006716448 XM_005251241 XM_005251240 XM_005251236 XM_005251235
HUGO HGNC:757
OMIM 600582
CCDS CCDS55237 CCDS34898 CCDS43742 CCDS55236 CCDS47866 CCDS55235 CCDS34900 CCDS34899 CCDS55238 CCDS55234 CCDS75746
HPRD 08996
IMGT
EMBL AC067881 AC090094 AF184241 AF224468 AF224469 AF289489 AF306765 AK295528 AK304314 BC025236 BC066929 BC142967 BC144362 CH471068 S83325 U03109
GenPept AAA82108 AAB50779 AAF82246 AAF82247 AAG16983 AAG40811 AAG42257 AAH25236 AAH66929 AAI42968 AAI44363 BAG58441 BAG65166 EAW86840 EAW86841 EAW86847 EAW86848 EAW86849
RNA Seq Atlas 444