UniProt functional annotation for Q9UDY2



	UniProt functional annotation for Q9UDY2

UniProt code: Q9UDY2.

Organism: Homo sapiens (Human).

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

Function: Plays a role in tight junctions and adherens junctions.

Subunit: Homodimer, and heterodimer with ZO1. Interacts with occludin, SAFB and UBN1. Interaction with SAFB occurs in the nucleus. Interacts with SCRIB. Interacts with USP53 (via the C-terminal region) (By similarity). {ECO:0000250|UniProtKB:Q9Z0U1, ECO:0000269|PubMed:15975580, ECO:0000269|PubMed:17897942, ECO:0000269|PubMed:18823282}.

Subcellular location: Cell junction, adherens junction. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cell junction, tight junction {ECO:0000250|UniProtKB:Q9Z0U1}. Nucleus {ECO:0000250}. Note=Also nuclear under environmental stress conditions and in migratory endothelial cells and subconfluent epithelial cell cultures. {ECO:0000250}.

Tissue specificity: This protein is found in epithelial cell junctions. Isoform A1 is abundant in the heart and brain. Detected in brain and skeletal muscle. It is present almost exclusively in normal tissues. Isoform C1 is expressed at high level in the kidney, pancreas, heart and placenta. Not detected in brain and skeletal muscle. Found in normal as well as in most neoplastic tissues. {ECO:0000269|PubMed:11018256}.

Disease: Familial hypercholanemia (FHCA) [MIM:607748]: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. {ECO:0000269|PubMed:12704386}. Note=The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry.

Disease: Cholestasis, progressive familial intrahepatic, 4 (PFIC4) [MIM:615878]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. {ECO:0000269|PubMed:24614073}. Note=The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous: [Isoform A1]: Produced by alternative promoter usage.

Miscellaneous: [Isoform A2]: Produced by alternative splicing of isoform A1. {ECO:0000305}.

Miscellaneous: [Isoform A3]: Produced by alternative splicing of isoform A1. {ECO:0000305}.

Miscellaneous: [Isoform C1]: Produced by alternative promoter usage. {ECO:0000305}.

Miscellaneous: [Isoform C2]: Produced by alternative splicing of isoform C1. {ECO:0000305}.

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

Sequence caution: Sequence=AAA61300.1; Type=Frameshift; Evidence={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 tight junctions and adherens junctions.


Subunit:		Homodimer, and heterodimer with ZO1. Interacts with occludin, SAFB and UBN1. Interaction with SAFB occurs in the nucleus. Interacts with SCRIB. Interacts with USP53 (via the C-terminal region) (By similarity). {ECO:0000250\|UniProtKB:Q9Z0U1, ECO:0000269\|PubMed:15975580, ECO:0000269\|PubMed:17897942, ECO:0000269\|PubMed:18823282}.
Subcellular location:		Cell junction, adherens junction. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cell junction, tight junction {ECO:0000250\|UniProtKB:Q9Z0U1}. Nucleus {ECO:0000250}. Note=Also nuclear under environmental stress conditions and in migratory endothelial cells and subconfluent epithelial cell cultures. {ECO:0000250}.
Tissue specificity:		This protein is found in epithelial cell junctions. Isoform A1 is abundant in the heart and brain. Detected in brain and skeletal muscle. It is present almost exclusively in normal tissues. Isoform C1 is expressed at high level in the kidney, pancreas, heart and placenta. Not detected in brain and skeletal muscle. Found in normal as well as in most neoplastic tissues. {ECO:0000269\|PubMed:11018256}.
Disease:		Familial hypercholanemia (FHCA) [MIM:607748]: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. {ECO:0000269\|PubMed:12704386}. Note=The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry.
Disease:		Cholestasis, progressive familial intrahepatic, 4 (PFIC4) [MIM:615878]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. {ECO:0000269\|PubMed:24614073}. Note=The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous:		[Isoform A1]: Produced by alternative promoter usage.
Miscellaneous:		[Isoform A2]: Produced by alternative splicing of isoform A1. {ECO:0000305}.
Miscellaneous:		[Isoform A3]: Produced by alternative splicing of isoform A1. {ECO:0000305}.
Miscellaneous:		[Isoform C1]: Produced by alternative promoter usage. {ECO:0000305}.
Miscellaneous:		[Isoform C2]: Produced by alternative splicing of isoform C1. {ECO:0000305}.
Similarity:		Belongs to the MAGUK family. {ECO:0000305}.
Sequence caution:		Sequence=AAA61300.1; Type=Frameshift; Evidence={ECO:0000305};