UniProt functional annotation for P22105



	UniProt functional annotation for P22105

UniProt code: P22105.

Organism: Homo sapiens (Human).

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

Function: Appears to mediate interactions between cells and the extracellular matrix. Substrate-adhesion molecule that appears to inhibit cell migration. Accelerates collagen fibril formation. May play a role in supporting the growth of epithelial tumors. {ECO:0000269|PubMed:17033827}.

Subunit: Homotrimer. Interacts with type I, III and V collagens and tropoelastin via its 29th fibronectin type-III domain. {ECO:0000269|PubMed:17033827, ECO:0000269|PubMed:17263730}.

Subcellular location: Secreted, extracellular space, extracellular matrix.

Tissue specificity: Highly expressed in fetal adrenal, in fetal testis, fetal smooth, striated and cardiac muscle. Isoform XB-short is only expressed in the adrenal gland.

Developmental stage: Expression levels are lower in adults than in children. {ECO:0000269|PubMed:17263730}.

Disease: Ehlers-Danlos syndrome, classic-like (EDSCLL) [MIM:606408]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCLL patients lack atrophic scars, a major diagnostic criteria for classic Ehlers-Danlos syndrome. Delayed wound healing is only present in a subset of patients. EDSCLL inheritance is autosomal recessive. {ECO:0000269|PubMed:11642233, ECO:0000269|PubMed:15733269, ECO:0000269|PubMed:23768946}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Vesicoureteral reflux 8 (VUR8) [MIM:615963]: A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease. {ECO:0000269|PubMed:23620400}. Note=The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous: [Isoform 4]: May be due to competing acceptor splice site in exon 24.

Miscellaneous: [Isoform 5]: May be due to competing donor splice site in exon 1. {ECO:0000305}.

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

Sequence caution: Sequence=AAB47488.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAB67981.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAB89296.1; Type=Erroneous gene model prediction; 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:		Appears to mediate interactions between cells and the extracellular matrix. Substrate-adhesion molecule that appears to inhibit cell migration. Accelerates collagen fibril formation. May play a role in supporting the growth of epithelial tumors. {ECO:0000269\|PubMed:17033827}.


Subunit:		Homotrimer. Interacts with type I, III and V collagens and tropoelastin via its 29th fibronectin type-III domain. {ECO:0000269\|PubMed:17033827, ECO:0000269\|PubMed:17263730}.
Subcellular location:		Secreted, extracellular space, extracellular matrix.
Tissue specificity:		Highly expressed in fetal adrenal, in fetal testis, fetal smooth, striated and cardiac muscle. Isoform XB-short is only expressed in the adrenal gland.
Developmental stage:		Expression levels are lower in adults than in children. {ECO:0000269\|PubMed:17263730}.
Disease:		Ehlers-Danlos syndrome, classic-like (EDSCLL) [MIM:606408]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCLL patients lack atrophic scars, a major diagnostic criteria for classic Ehlers-Danlos syndrome. Delayed wound healing is only present in a subset of patients. EDSCLL inheritance is autosomal recessive. {ECO:0000269\|PubMed:11642233, ECO:0000269\|PubMed:15733269, ECO:0000269\|PubMed:23768946}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Vesicoureteral reflux 8 (VUR8) [MIM:615963]: A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease. {ECO:0000269\|PubMed:23620400}. Note=The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous:		[Isoform 4]: May be due to competing acceptor splice site in exon 24.
Miscellaneous:		[Isoform 5]: May be due to competing donor splice site in exon 1. {ECO:0000305}.
Similarity:		Belongs to the tenascin family. {ECO:0000305}.
Sequence caution:		Sequence=AAB47488.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAB67981.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAB89296.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};