UniProt functional annotation for Q9UBH6



	UniProt functional annotation for Q9UBH6

UniProt code: Q9UBH6.

Organism: Homo sapiens (Human).

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

Function: Plays a role in phosphate homeostasis. Mediates phosphate export from the cell (PubMed:23791524, PubMed:25938945). Binds inositol hexakisphosphate (Ins6P) and similar inositol polyphosphates, such as 5-diphospho-inositol pentakisphosphate (5-InsP7); these are important intracellular signaling molecules (PubMed:27080106). {ECO:0000250|UniProtKB:Q9Z0U0, ECO:0000269|PubMed:23791524, ECO:0000269|PubMed:25938945, ECO:0000269|PubMed:27080106}.

Subcellular location: Cell membrane {ECO:0000269|PubMed:23791524}; Multi-pass membrane protein {ECO:0000305}.

Tissue specificity: Widely expressed. Detected in spleen, lymph node, thymus, leukocytes, bone marrow, heart, kidney, pancreas and skeletal muscle. {ECO:0000269|PubMed:9927670, ECO:0000269|PubMed:9990033}.

Developmental stage: Expressed in fetal liver. {ECO:0000269|PubMed:9927670, ECO:0000269|PubMed:9990033}.

Domain: The SPX domain has high affinity for inositol polyphosphates, such as myo-inositol hexakisphosphate and 5-diphospho-myo-inositol pentakisphosphate (5-InsP7). Its affinity for inorganic phosphate is tow to three orders of magnitude lower. {ECO:0000269|PubMed:27080106}.

Disease: Basal ganglia calcification, idiopathic, 6 (IBGC6) [MIM:616413]: A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. {ECO:0000269|PubMed:25938945}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the SYG1 (TC 2.A.94) 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:		Plays a role in phosphate homeostasis. Mediates phosphate export from the cell (PubMed:23791524, PubMed:25938945). Binds inositol hexakisphosphate (Ins6P) and similar inositol polyphosphates, such as 5-diphospho-inositol pentakisphosphate (5-InsP7); these are important intracellular signaling molecules (PubMed:27080106). {ECO:0000250\|UniProtKB:Q9Z0U0, ECO:0000269\|PubMed:23791524, ECO:0000269\|PubMed:25938945, ECO:0000269\|PubMed:27080106}.


Subcellular location:		Cell membrane {ECO:0000269\|PubMed:23791524}; Multi-pass membrane protein {ECO:0000305}.
Tissue specificity:		Widely expressed. Detected in spleen, lymph node, thymus, leukocytes, bone marrow, heart, kidney, pancreas and skeletal muscle. {ECO:0000269\|PubMed:9927670, ECO:0000269\|PubMed:9990033}.
Developmental stage:		Expressed in fetal liver. {ECO:0000269\|PubMed:9927670, ECO:0000269\|PubMed:9990033}.
Domain:		The SPX domain has high affinity for inositol polyphosphates, such as myo-inositol hexakisphosphate and 5-diphospho-myo-inositol pentakisphosphate (5-InsP7). Its affinity for inorganic phosphate is tow to three orders of magnitude lower. {ECO:0000269\|PubMed:27080106}.
Disease:		Basal ganglia calcification, idiopathic, 6 (IBGC6) [MIM:616413]: A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. {ECO:0000269\|PubMed:25938945}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the SYG1 (TC 2.A.94) family. {ECO:0000305}.