UniProt functional annotation for Q9UKB3



	UniProt functional annotation for Q9UKB3

UniProt code: Q9UKB3.

Organism: Homo sapiens (Human).

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

Subunit: Interacts with HSPA8. {ECO:0000269|PubMed:24122553}.

Subcellular location: [Isoform a]: Cytoplasm {ECO:0000269|PubMed:24122553}.

Tissue specificity: Expressed at high levels in brain, heart, and testis, and at reduced levels in kidney and stomach.

Induction: Up-regulated by ER stress. {ECO:0000269|PubMed:24122553}.

Disease: Hyperphenylalaninemia, mild, non-BH4-deficient (HPANBH4) [MIM:617384]: An autosomal recessive disorder characterized by increased serum phenylalanine, normal BH4 metabolism, and highly variable neurologic defects, including movement abnormalities and intellectual disability. {ECO:0000269|PubMed:28132689}. Note=The disease is caused by variants affecting the gene represented in this entry.

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.


Subunit:		Interacts with HSPA8. {ECO:0000269\|PubMed:24122553}.
Subcellular location:		[Isoform a]: Cytoplasm {ECO:0000269\|PubMed:24122553}.
Tissue specificity:		Expressed at high levels in brain, heart, and testis, and at reduced levels in kidney and stomach.
Induction:		Up-regulated by ER stress. {ECO:0000269\|PubMed:24122553}.
Disease:		Hyperphenylalaninemia, mild, non-BH4-deficient (HPANBH4) [MIM:617384]: An autosomal recessive disorder characterized by increased serum phenylalanine, normal BH4 metabolism, and highly variable neurologic defects, including movement abnormalities and intellectual disability. {ECO:0000269\|PubMed:28132689}. Note=The disease is caused by variants affecting the gene represented in this entry.