Homo sapiens Protein: ASPH
Summary
InnateDB Protein IDBP-474189.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ASPH
Protein Name aspartate beta-hydroxylase
Synonyms AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN; junctin;
Species Homo sapiens
Ensembl Protein ENSP00000429286
InnateDB Gene IDBG-23064 (ASPH)
Protein Structure
UniProt Annotation
Function Isoform 1: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins. {ECO:0000269PubMed:22586105}.Isoform 8: membrane-bound Ca(2+)-sensing protein, which is a structural component of the ER-plasma membrane junctions. Isoform 8 regulates the activity of Ca(+2) released-activated Ca(+2) (CRAC) channels in T-cells. {ECO:0000269PubMed:22586105}.
Subcellular Localization Isoform 1: Endoplasmic reticulum membrane; Single-pass type II membrane protein.Isoform 8: Endoplasmic reticulum membrane; Single-pass type II membrane protein.
Disease Associations
Tissue Specificity Isoform 1 is detected in all tissues tested. Isoform 8 is mainly expressed in pancreas, heart, brain, kidney and liver. Isoform 8 is expressed in kidney (at protein level). {ECO:0000269PubMed:11007777}.
Comments
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: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:0031585 regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
GO:0032237 activation of store-operated calcium channel activity
GO:0033198 response to ATP
GO:0045862 positive regulation of proteolysis
GO:0045893 positive regulation of transcription, DNA-templated
GO:0055114 oxidation-reduction process
GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity
GO:0060316 positive regulation of ryanodine-sensitive calcium-release channel activity
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
Cellular Component
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
Protein Structure and Domains
PDB ID
InterPro IPR007943 Aspartyl beta-hydroxylase/Triadin domain
PFAM PF05279
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q12797
PhosphoSite PhosphoSite-Q12797
TrEMBL
UniProt Splice Variant
Entrez Gene 444
UniGene Hs.733252
RefSeq NP_001158227
HUGO HGNC:757
OMIM 600582
CCDS CCDS55237
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