InnateDB Protein
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IDBP-477623.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ASPH
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Protein Name
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aspartate beta-hydroxylase
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Synonyms
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AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN; junctin;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000429160
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InnateDB Gene
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IDBG-23064 (ASPH)
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Protein Structure
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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}.
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Subcellular Localization |
Isoform 1: Endoplasmic reticulum membrane; Single-pass type II membrane protein.Isoform 8: Endoplasmic reticulum membrane; Single-pass type II membrane protein.
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Disease Associations |
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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}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
10
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
GO:0005513
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detection of calcium ion
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GO:0006936
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muscle contraction
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GO:0010524
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positive regulation of calcium ion transport into cytosol
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GO:0010649
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regulation of cell communication by electrical coupling
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GO:0010880
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regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
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GO:0010881
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regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
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GO:0031585
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regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
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GO:0032237
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activation of store-operated calcium channel activity
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GO:0033198
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response to ATP
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GO:0045862
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positive regulation of proteolysis
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GO:0045893
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positive regulation of transcription, DNA-templated
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GO:0055114
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oxidation-reduction process
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GO:0060314
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regulation of ryanodine-sensitive calcium-release channel activity
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GO:0060316
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positive regulation of ryanodine-sensitive calcium-release channel activity
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GO:0070588
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calcium ion transmembrane transport
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GO:0071277
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cellular response to calcium ion
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GO:0090316
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positive regulation of intracellular protein transport
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GO:0097202
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activation of cysteine-type endopeptidase activity
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Cellular Component |
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PDB ID |
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InterPro |
IPR007943
Aspartyl beta-hydroxylase/Triadin domain
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PFAM |
PF05279
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q12797
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PhosphoSite |
PhosphoSite-Q12797
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
444
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UniGene |
Hs.733252
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RefSeq |
NP_001158225
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HUGO |
HGNC:757
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OMIM |
600582
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CCDS |
CCDS55235
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HPRD |
08996
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IMGT |
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EMBL |
AC067881
AC090094
AF184241
AF224468
AF224469
AF289489
AF306765
AK295528
AK304314
BC025236
BC066929
BC142967
BC144362
CH471068
S83325
U03109
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GenPept |
AAA82108
AAB50779
AAF82246
AAF82247
AAG16983
AAG40811
AAG42257
AAH25236
AAH66929
AAI42968
AAI44363
BAG58441
BAG65166
EAW86840
EAW86841
EAW86847
EAW86848
EAW86849
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