Tchem ASPH Aspartyl/asparaginyl beta-hydroxylase

Protein Summary

Description

Isoform 1: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins. 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. 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]

Uniprot Accession IDs

• Q12797
• A0A0A0MSK8
• A6NDF4
• A6NHI2
• B4DIC9
• B4E2K4
• B7ZM95
• E5RGP5
• F5H667
• Q6NXR7
• Q8TB28
• Q9H291
• Q9H2C4
• Q9NRI0
• Q9NRI1
• Q9Y4J0

Gene Name

• ASPH

Ensembl ID

• ENST00000356457
• ENSP00000348841
• ENSG00000198363
• ENST00000379449
• ENSP00000368762
• ENST00000379454
• ENSP00000368767
• ENST00000389204
• ENSP00000373856
• ENST00000445642
• ENSP00000394013
• ENST00000517847
• ENSP00000429954
• ENST00000517903
• ENSP00000430245
• ENST00000518068
• ENSP00000429286
• ENST00000522603
• ENSP00000436188
• ENST00000522835
• ENSP00000429160
• ENST00000541428
• ENSP00000437864

Symbol

• BAH
• AAH
• BAH
• HAAH
• JCTN
• FDLAB
• junctin
• CASQ2BP1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor perturbation	1
interacting protein	0.99
kinase perturbation	0.95
small molecule perturbation	0.88
transcription factor binding site profile	0.88

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 472.26   (req: < 5)

Gene RIFs: 40   (req: <= 3)

Antibodies: 300   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 472.26   (req: >= 5)

Gene RIFs: 40   (req: > 3)

Antibodies: 300   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 33

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 2

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 1