UniProt functional annotation for Q9UBV7



	UniProt functional annotation for Q9UBV7

UniProt code: Q9UBV7.

Organism: Homo sapiens (Human).

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

Function: Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts. {ECO:0000269|PubMed:24052259}.

Catalytic activity: Reaction=3-O-(beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-galactose = 3-O-(beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:15297, Rhea:RHEA-COMP:12567, Rhea:RHEA- COMP:12570, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:132085, ChEBI:CHEBI:132088; EC=2.4.1.133; Evidence={ECO:0000269|PubMed:24052259};

Cofactor: Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000269|PubMed:24052259};

Pathway: Protein modification; protein glycosylation.

Subcellular location: Golgi apparatus, Golgi stack membrane; Single- pass type II membrane protein. Note=Cis cisternae of Golgi stack.

Tissue specificity: High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung.

Disease: Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1) [MIM:130070]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome. {ECO:0000269|PubMed:10506123}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the glycosyltransferase 7 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:		Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts. {ECO:0000269\|PubMed:24052259}.


Catalytic activity:		Reaction=3-O-(beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-galactose = 3-O-(beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:15297, Rhea:RHEA-COMP:12567, Rhea:RHEA- COMP:12570, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:132085, ChEBI:CHEBI:132088; EC=2.4.1.133; Evidence={ECO:0000269\|PubMed:24052259};
Cofactor:		Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000269\|PubMed:24052259};
Pathway:		Protein modification; protein glycosylation.
Subcellular location:		Golgi apparatus, Golgi stack membrane; Single- pass type II membrane protein. Note=Cis cisternae of Golgi stack.
Tissue specificity:		High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung.
Disease:		Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1) [MIM:130070]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome. {ECO:0000269\|PubMed:10506123}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the glycosyltransferase 7 family. {ECO:0000305}.