Human Gene ASPH (ENST00000379454.9_12) from GENCODE V47lift37
  Description: aspartate beta-hydroxylase, transcript variant 1 (from RefSeq NM_004318.4)
Gencode Transcript: ENST00000379454.9_12
Gencode Gene: ENSG00000198363.18_14
Transcript (Including UTRs)
   Position: hg19 chr8:62,413,115-62,627,151 Size: 214,037 Total Exon Count: 25 Strand: -
Coding Region
   Position: hg19 chr8:62,415,918-62,626,930 Size: 211,013 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:62,413,115-62,627,151)mRNA (may differ from genome)Protein (758 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ASPH_HUMAN
DESCRIPTION: RecName: Full=Aspartyl/asparaginyl beta-hydroxylase; EC=1.14.11.16; AltName: Full=Aspartate beta-hydroxylase; Short=ASP beta-hydroxylase; AltName: Full=Peptide-aspartate beta-dioxygenase;
FUNCTION: Isoform 1: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins.
FUNCTION: 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.
CATALYTIC ACTIVITY: Peptide L-aspartate + 2-oxoglutarate + O(2) = peptide 3-hydroxy-L-aspartate + succinate + CO(2).
COFACTOR: Iron.
SUBUNIT: Monomer (By similarity). Isoform 8 interacts with ORAI1 and STIM1.
SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum membrane; Single-pass type II membrane protein.
SUBCELLULAR LOCATION: Isoform 8: Endoplasmic reticulum membrane; Single-pass type II membrane protein.
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).
SIMILARITY: Belongs to the aspartyl/asparaginyl beta-hydroxylase family.
SIMILARITY: Contains 4 TPR repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ASPH
Diseases sorted by gene-association score: traboulsi syndrome* (1568), combat disorder (9), in situ pulmonary adenocarcinoma (8), catecholaminergic polymorphic ventricular tachycardia (7), regular astigmatism (7), interstitial pneumonitis, desquamative, familial (6), acute stress disorder (6), cholangiocarcinoma, susceptibility to (6), meier-gorlin syndrome 1 (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 38.80 RPKM in Cells - Cultured fibroblasts
Total median expression: 605.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -106.70221-0.483 Picture PostScript Text
3' UTR -671.202803-0.239 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007943 - Asp-B-hydro/Triadin_dom
IPR007803 - Asp_Arg_b-Hydrxlase
IPR013026 - TPR-contain_dom
IPR011990 - TPR-like_helical
IPR019734 - TPR_repeat

Pfam Domains:
PF05118 - Aspartyl/Asparaginyl beta-hydroxylase
PF05279 - Aspartyl beta-hydroxylase N-terminal region
PF13174 - Tetratricopeptide repeat
PF13181 - Tetratricopeptide repeat
PF13432 - Tetratricopeptide repeat

SCOP Domains:
81901 - HCP-like
48439 - Protein prenylyltransferase
48452 - TPR-like
51197 - Clavaminate synthase-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3RCQ - X-ray


ModBase Predicted Comparative 3D Structure on Q12797
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
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:0016491 oxidoreductase activity
GO:0044325 ion channel binding
GO:0046872 metal ion binding
GO:0051213 dioxygenase activity

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:0022900 electron transport chain
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:0034220 ion transmembrane transport
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
GO:1903779 regulation of cardiac conduction

Cellular Component:
GO:0005623 cell
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:0016529 sarcoplasmic reticulum
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


-  Descriptions from all associated GenBank mRNAs
  EU718494 - Homo sapiens aspartate beta-hydroxylase isoform f (ASPH) mRNA, complete cds, alternatively spliced.
KJ905691 - Synthetic construct Homo sapiens clone ccsbBroadEn_15361 ASPH gene, encodes complete protein.
LF206384 - JP 2014500723-A/13887: Polycomb-Associated Non-Coding RNAs.
AK304314 - Homo sapiens cDNA FLJ54576 complete cds, highly similar to Aspartyl/asparaginyl beta-hydroxylase (EC 1.14.11.16).
U03109 - Human aspartyl beta-hydroxylase mRNA, complete cds.
LP895600 - Sequence 464 from Patent EP3253886.
S83325 - aspartyl(asparaginyl)beta-hydroxylase [human, hepatoblastoma cell line HepG2, mRNA Partial, 2324 nt].
BC166658 - Synthetic construct Homo sapiens clone IMAGE:100066384, MGC:195521 aspartate beta-hydroxylase (ASPH) mRNA, encodes complete protein.
FJ461473 - Homo sapiens aspartate beta-hydroxylase (ASPH) mRNA, partial cds.
MA441961 - JP 2018138019-A/13887: Polycomb-Associated Non-Coding RNAs.
AF339775 - Homo sapiens clone IMAGE:1338238, mRNA sequence.
AK096383 - Homo sapiens cDNA FLJ39064 fis, clone NT2RP7014583.
LF353749 - JP 2014500723-A/161252: Polycomb-Associated Non-Coding RNAs.
LF353750 - JP 2014500723-A/161253: Polycomb-Associated Non-Coding RNAs.
LF353751 - JP 2014500723-A/161254: Polycomb-Associated Non-Coding RNAs.
LF353752 - JP 2014500723-A/161255: Polycomb-Associated Non-Coding RNAs.
LF353753 - JP 2014500723-A/161256: Polycomb-Associated Non-Coding RNAs.
LF353754 - JP 2014500723-A/161257: Polycomb-Associated Non-Coding RNAs.
LF353755 - JP 2014500723-A/161258: Polycomb-Associated Non-Coding RNAs.
LF353756 - JP 2014500723-A/161259: Polycomb-Associated Non-Coding RNAs.
LF353757 - JP 2014500723-A/161260: Polycomb-Associated Non-Coding RNAs.
LF353758 - JP 2014500723-A/161261: Polycomb-Associated Non-Coding RNAs.
LF353759 - JP 2014500723-A/161262: Polycomb-Associated Non-Coding RNAs.
LF353760 - JP 2014500723-A/161263: Polycomb-Associated Non-Coding RNAs.
LF353761 - JP 2014500723-A/161264: Polycomb-Associated Non-Coding RNAs.
JD223662 - Sequence 204686 from Patent EP1572962.
JD200492 - Sequence 181516 from Patent EP1572962.
JD341904 - Sequence 322928 from Patent EP1572962.
JD065963 - Sequence 46987 from Patent EP1572962.
JD204931 - Sequence 185955 from Patent EP1572962.
JD540322 - Sequence 521346 from Patent EP1572962.
JD534001 - Sequence 515025 from Patent EP1572962.
JD369909 - Sequence 350933 from Patent EP1572962.
LF353762 - JP 2014500723-A/161265: Polycomb-Associated Non-Coding RNAs.
LF353763 - JP 2014500723-A/161266: Polycomb-Associated Non-Coding RNAs.
LF353764 - JP 2014500723-A/161267: Polycomb-Associated Non-Coding RNAs.
LF353765 - JP 2014500723-A/161268: Polycomb-Associated Non-Coding RNAs.
LF353773 - JP 2014500723-A/161276: Polycomb-Associated Non-Coding RNAs.
LF353774 - JP 2014500723-A/161277: Polycomb-Associated Non-Coding RNAs.
LF353775 - JP 2014500723-A/161278: Polycomb-Associated Non-Coding RNAs.
LF353779 - JP 2014500723-A/161282: Polycomb-Associated Non-Coding RNAs.
MA589326 - JP 2018138019-A/161252: Polycomb-Associated Non-Coding RNAs.
MA589327 - JP 2018138019-A/161253: Polycomb-Associated Non-Coding RNAs.
MA589328 - JP 2018138019-A/161254: Polycomb-Associated Non-Coding RNAs.
MA589329 - JP 2018138019-A/161255: Polycomb-Associated Non-Coding RNAs.
MA589330 - JP 2018138019-A/161256: Polycomb-Associated Non-Coding RNAs.
MA589331 - JP 2018138019-A/161257: Polycomb-Associated Non-Coding RNAs.
MA589332 - JP 2018138019-A/161258: Polycomb-Associated Non-Coding RNAs.
MA589333 - JP 2018138019-A/161259: Polycomb-Associated Non-Coding RNAs.
MA589334 - JP 2018138019-A/161260: Polycomb-Associated Non-Coding RNAs.
MA589335 - JP 2018138019-A/161261: Polycomb-Associated Non-Coding RNAs.
MA589336 - JP 2018138019-A/161262: Polycomb-Associated Non-Coding RNAs.
MA589337 - JP 2018138019-A/161263: Polycomb-Associated Non-Coding RNAs.
MA589338 - JP 2018138019-A/161264: Polycomb-Associated Non-Coding RNAs.
MA589339 - JP 2018138019-A/161265: Polycomb-Associated Non-Coding RNAs.
MA589340 - JP 2018138019-A/161266: Polycomb-Associated Non-Coding RNAs.
MA589341 - JP 2018138019-A/161267: Polycomb-Associated Non-Coding RNAs.
MA589342 - JP 2018138019-A/161268: Polycomb-Associated Non-Coding RNAs.
MA589350 - JP 2018138019-A/161276: Polycomb-Associated Non-Coding RNAs.
MA589351 - JP 2018138019-A/161277: Polycomb-Associated Non-Coding RNAs.
MA589352 - JP 2018138019-A/161278: Polycomb-Associated Non-Coding RNAs.
MA589356 - JP 2018138019-A/161282: Polycomb-Associated Non-Coding RNAs.
BC025236 - Homo sapiens aspartate beta-hydroxylase, mRNA (cDNA clone IMAGE:5090911), complete cds.
AF289489 - Homo sapiens aspartyl beta-hydroxylase 2.8 kb transcript mRNA, complete cds; alternatively spliced.
BC144362 - Homo sapiens aspartate beta-hydroxylase, mRNA (cDNA clone IMAGE:9052883), complete cds.
BC144363 - Homo sapiens aspartate beta-hydroxylase, mRNA (cDNA clone IMAGE:9052884), complete cds.
AF306765 - Homo sapiens junctate mRNA, complete cds.
AK291836 - Homo sapiens cDNA FLJ77157 complete cds, highly similar to Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 3, mRNA.
AK295528 - Homo sapiens cDNA FLJ59002 complete cds, highly similar to Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 2, mRNA.
AK298577 - Homo sapiens cDNA FLJ54075 complete cds, highly similar to Aspartyl/asparaginyl beta-hydroxylase (EC 1.14.11.16).
LF353795 - JP 2014500723-A/161298: Polycomb-Associated Non-Coding RNAs.
HQ447761 - Synthetic construct Homo sapiens clone IMAGE:100071092; CCSB012718_02 aspartate beta-hydroxylase (ASPH) gene, encodes complete protein.
KJ890721 - Synthetic construct Homo sapiens clone ccsbBroadEn_00115 ASPH gene, encodes complete protein.
BC015518 - Homo sapiens aspartate beta-hydroxylase, mRNA (cDNA clone IMAGE:3887962), partial cds.
LF353796 - JP 2014500723-A/161299: Polycomb-Associated Non-Coding RNAs.
LF353797 - JP 2014500723-A/161300: Polycomb-Associated Non-Coding RNAs.
LF353798 - JP 2014500723-A/161301: Polycomb-Associated Non-Coding RNAs.
LF353799 - JP 2014500723-A/161302: Polycomb-Associated Non-Coding RNAs.
LF353802 - JP 2014500723-A/161305: Polycomb-Associated Non-Coding RNAs.
AF184241 - Homo sapiens cardiac junctin mRNA, complete cds.
AF224469 - Homo sapiens junctin isoform 1 mRNA, complete cds.
AF224468 - Homo sapiens junctin mRNA, complete cds.
BC066929 - Homo sapiens aspartate beta-hydroxylase, mRNA (cDNA clone IMAGE:5264813), complete cds.
BC142967 - Homo sapiens aspartate beta-hydroxylase, mRNA (cDNA clone IMAGE:8860387), complete cds.
CU688200 - Synthetic construct Homo sapiens gateway clone IMAGE:100021013 5' read ASPH mRNA.
KX404984 - Homo sapiens isolate ASPH_exon_exclusion_F circular RNA circRNA, complete sequence.
KX404985 - Homo sapiens isolate ASPH_exon_inclusion_F circular RNA circRNA, complete sequence.
LF353817 - JP 2014500723-A/161320: Polycomb-Associated Non-Coding RNAs.
LF353828 - JP 2014500723-A/161331: Polycomb-Associated Non-Coding RNAs.
JD192264 - Sequence 173288 from Patent EP1572962.
MA589372 - JP 2018138019-A/161298: Polycomb-Associated Non-Coding RNAs.
MA589373 - JP 2018138019-A/161299: Polycomb-Associated Non-Coding RNAs.
MA589374 - JP 2018138019-A/161300: Polycomb-Associated Non-Coding RNAs.
MA589375 - JP 2018138019-A/161301: Polycomb-Associated Non-Coding RNAs.
MA589376 - JP 2018138019-A/161302: Polycomb-Associated Non-Coding RNAs.
MA589379 - JP 2018138019-A/161305: Polycomb-Associated Non-Coding RNAs.
MA589394 - JP 2018138019-A/161320: Polycomb-Associated Non-Coding RNAs.
MA589405 - JP 2018138019-A/161331: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_hifPathway - Hypoxia-Inducible Factor in the Cardiovascular System

Reactome (by CSHL, EBI, and GO)

Protein Q12797 (Reactome details) participates in the following event(s):

R-HSA-2855020 RYR tetramers transport Ca2+ from sarcoplasmic reticulum lumen to cytosol
R-HSA-2672351 Stimuli-sensing channels
R-HSA-5578775 Ion homeostasis
R-HSA-983712 Ion channel transport
R-HSA-5576891 Cardiac conduction
R-HSA-382551 Transport of small molecules
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: A0A0A0MSK8, A6NDF4, A6NHI2, ASPH_HUMAN, B4DIC9, B4E2K4, B7ZM95, BAH, E5RGP5, ENST00000379454.1, ENST00000379454.2, ENST00000379454.3, ENST00000379454.4, ENST00000379454.5, ENST00000379454.6, ENST00000379454.7, ENST00000379454.8, F5H667, NM_004318, Q12797, Q6NXR7, Q8TB28, Q9H291, Q9H2C4, Q9NRI0, Q9NRI1, Q9Y4J0, uc318ozi.1, uc318ozi.2
UCSC ID: ENST00000379454.9_12
RefSeq Accession: NM_004318.4
Protein: Q12797 (aka ASPH_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.