Tbio FAM126A Hyccin

Protein Summary

Description

Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (PubMed:26571211). FAM126A plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns(4)P (PubMed:26571211). Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system (PubMed:26571211, PubMed:16951682). May also have a role in the beta-catenin/Lef signaling pathway (Probable). The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]

Uniprot Accession IDs

• Q9BYI3
• A0A024RA06
• A4D145
• B8ZZJ1
• Q6N010
• Q75MR4
• Q7LDZ4
• Q96MX1
• Q96NQ6

Gene Name

• FAM126A

Ensembl ID

• ENST00000409923
• ENSP00000386246
• ENSG00000122591
• ENST00000432176
• ENSP00000403396

Symbol

• DRCTNNB1A
• HCC
• HLD5
• HYCC1
• DRCTNNB1A

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
microRNA	0.87
transcription factor binding site profile	0.84
transcription factor perturbation	0.84
gene perturbation	0.76
transcription factor	0.63

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: 105.43   (req: < 5)

Gene RIFs: 9   (req: <= 3)

Antibodies: 60   (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: 105.43   (req: >= 5)

Gene RIFs: 9   (req: > 3)

Antibodies: 60   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3

Tchem

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

Active Ligand: 0

Tclin

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

Active Drug: 0