UniProt functional annotation for Q9BYI3



	UniProt functional annotation for Q9BYI3

UniProt code: Q9BYI3.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: 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). {ECO:0000269|PubMed:16951682, ECO:0000269|PubMed:26571211, ECO:0000305|PubMed:10910037}.

Subunit: Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and FAM126 (FAM126A or FAM126B) (PubMed:26571211). Interacts with TTC7 (TTC7A or TTC7B), interaction is direct (PubMed:26571211). {ECO:0000269|PubMed:26571211}.

Subcellular location: Cytoplasm, cytosol {ECO:0000269|PubMed:10910037, ECO:0000269|PubMed:26571211}. Cell membrane {ECO:0000269|PubMed:16951682, ECO:0000269|PubMed:26571211}. Note=Localizes to the cytosol and is recruited to the plasma membrane following interaction with other components of the phosphatidylinositol 4-kinase (PI4K) complex. {ECO:0000269|PubMed:26571211}.

Tissue specificity: Widely expressed. Highest levels in heart, brain, placenta, spleen and testis. {ECO:0000269|PubMed:10910037}.

Induction: Down-regulated by beta-catenin. {ECO:0000269|PubMed:10910037}.

Disease: Leukodystrophy, hypomyelinating, 5 (HLD5) [MIM:610532]: A hypomyelinating leukodystrophy associated with congenital cataract. It is clinically characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. HLD5 shows clinical variability, but features of hypomyelination combined with increased periventricular white matter water content are consistently observed. {ECO:0000269|PubMed:16951682, ECO:0000269|PubMed:21911699, ECO:0000269|PubMed:23998934, ECO:0000269|PubMed:26571211}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the FAM126 family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		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). {ECO:0000269\|PubMed:16951682, ECO:0000269\|PubMed:26571211, ECO:0000305\|PubMed:10910037}.


Subunit:		Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and FAM126 (FAM126A or FAM126B) (PubMed:26571211). Interacts with TTC7 (TTC7A or TTC7B), interaction is direct (PubMed:26571211). {ECO:0000269\|PubMed:26571211}.
Subcellular location:		Cytoplasm, cytosol {ECO:0000269\|PubMed:10910037, ECO:0000269\|PubMed:26571211}. Cell membrane {ECO:0000269\|PubMed:16951682, ECO:0000269\|PubMed:26571211}. Note=Localizes to the cytosol and is recruited to the plasma membrane following interaction with other components of the phosphatidylinositol 4-kinase (PI4K) complex. {ECO:0000269\|PubMed:26571211}.
Tissue specificity:		Widely expressed. Highest levels in heart, brain, placenta, spleen and testis. {ECO:0000269\|PubMed:10910037}.
Induction:		Down-regulated by beta-catenin. {ECO:0000269\|PubMed:10910037}.
Disease:		Leukodystrophy, hypomyelinating, 5 (HLD5) [MIM:610532]: A hypomyelinating leukodystrophy associated with congenital cataract. It is clinically characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. HLD5 shows clinical variability, but features of hypomyelination combined with increased periventricular white matter water content are consistently observed. {ECO:0000269\|PubMed:16951682, ECO:0000269\|PubMed:21911699, ECO:0000269\|PubMed:23998934, ECO:0000269\|PubMed:26571211}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the FAM126 family. {ECO:0000305}.