UniProt functional annotation for Q86YT5



	UniProt functional annotation for Q86YT5

UniProt code: Q86YT5.

Organism: Homo sapiens (Human).

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

Function: High-affinity sodium/citrate cotransporter that mediates citrate entry into cells. The transport process is electrogenic; it is the trivalent form of citrate rather than the divalent form that is recognized as a substrate. May facilitate the utilization of circulating citrate for the generation of metabolic energy and for the synthesis of fatty acids and cholesterol. {ECO:0000269|PubMed:12445824, ECO:0000269|PubMed:26384929}.

Subcellular location: Membrane; Multi-pass membrane protein. Cell membrane {ECO:0000269|PubMed:26384929}.

Tissue specificity: Expressed most predominantly in the liver, with moderate expression detectable in the brain and testis. {ECO:0000269|PubMed:12445824}.

Disease: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta (DEE25) [MIM:615905]: An autosomal recessive disease characterized by subclinical seizures appearing in the first days of life, evolving to severe epileptic disease. Affected individuals have profound or severe delayed development with lack of speech, and most patients do not acquire the ability to sit. Additional variable features include axial hypotonia, peripheral hypertonia, and abnormal involuntary movements such as dystonia and choreoathetosis. Dental abnormalities, including delayed eruption, hypodontia, tooth hypoplasia, yellow discoloration, thin enamel, and enamel chipping are observed in most patients. {ECO:0000269|PubMed:24995870, ECO:0000269|PubMed:26384929}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily. {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:		High-affinity sodium/citrate cotransporter that mediates citrate entry into cells. The transport process is electrogenic; it is the trivalent form of citrate rather than the divalent form that is recognized as a substrate. May facilitate the utilization of circulating citrate for the generation of metabolic energy and for the synthesis of fatty acids and cholesterol. {ECO:0000269\|PubMed:12445824, ECO:0000269\|PubMed:26384929}.


Subcellular location:		Membrane; Multi-pass membrane protein. Cell membrane {ECO:0000269\|PubMed:26384929}.
Tissue specificity:		Expressed most predominantly in the liver, with moderate expression detectable in the brain and testis. {ECO:0000269\|PubMed:12445824}.
Disease:		Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta (DEE25) [MIM:615905]: An autosomal recessive disease characterized by subclinical seizures appearing in the first days of life, evolving to severe epileptic disease. Affected individuals have profound or severe delayed development with lack of speech, and most patients do not acquire the ability to sit. Additional variable features include axial hypotonia, peripheral hypertonia, and abnormal involuntary movements such as dystonia and choreoathetosis. Dental abnormalities, including delayed eruption, hypodontia, tooth hypoplasia, yellow discoloration, thin enamel, and enamel chipping are observed in most patients. {ECO:0000269\|PubMed:24995870, ECO:0000269\|PubMed:26384929}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily. {ECO:0000305}.