UniProt functional annotation for Q96NY8



	UniProt functional annotation for Q96NY8

UniProt code: Q96NY8.

Organism: Homo sapiens (Human).

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

Function: Seems to be involved in cell adhesion through trans- homophilic and -heterophilic interactions, the latter including specifically interactions with NECTIN1. Does not act as receptor for alpha-herpesvirus entry into cells.

Function: (Microbial infection) Acts as a receptor for measles virus. {ECO:0000269|PubMed:22048310, ECO:0000269|PubMed:23202587}.

Subunit: Self-associates. Interacts via its Ig-like V-type domain with NECTIN1 Ig-like V-type domain. Interacts via its C-terminus with AFDN. {ECO:0000269|PubMed:11544254, ECO:0000269|PubMed:12011057, ECO:0000269|PubMed:22902367}.

Subunit: (Microbial infection) Interacts with measles virus Hemagglutinin protein (PubMed:22048310, PubMed:23202587). {ECO:0000269|PubMed:22048310, ECO:0000269|PubMed:23202587}.

Subcellular location: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell junction, adherens junction {ECO:0000269|PubMed:11544254}. Note=Colocalizes with AFDN at cadherin- based adherens junctions (PubMed:11544254).

Subcellular location: [Processed poliovirus receptor-related protein 4]: Secreted {ECO:0000269|PubMed:15784625}. Note=The secreted form is found in breast tumor patients (PubMed:15784625).

Tissue specificity: Predominantly expressed in placenta. Not detected in normal breast epithelium but expressed in breast carcinoma. {ECO:0000269|PubMed:11544254, ECO:0000269|PubMed:17474988}.

Ptm: The soluble form is produced by proteolytic cleavage at the cell surface (shedding), probably by ADAM17/TACE. {ECO:0000269|PubMed:15784625}.

Disease: Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) [MIM:613573]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSS1 is characterized by the association of hair and teeth abnormalities with cutaneous syndactyly of the hands and/or feet. Hair morphologic abnormalities include twists at irregular intervals (pilli torti) and swelling along the shafts, particularly associated with areas of breakage. Dental findings consist of abnormally widely spaced teeth, with peg-shaped and conical crowns. Patients have normal sweating. {ECO:0000269|PubMed:20691405}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the nectin 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:		Seems to be involved in cell adhesion through trans- homophilic and -heterophilic interactions, the latter including specifically interactions with NECTIN1. Does not act as receptor for alpha-herpesvirus entry into cells.



Function:		(Microbial infection) Acts as a receptor for measles virus. {ECO:0000269\|PubMed:22048310, ECO:0000269\|PubMed:23202587}.


Subunit:		Self-associates. Interacts via its Ig-like V-type domain with NECTIN1 Ig-like V-type domain. Interacts via its C-terminus with AFDN. {ECO:0000269\|PubMed:11544254, ECO:0000269\|PubMed:12011057, ECO:0000269\|PubMed:22902367}.
Subunit:		(Microbial infection) Interacts with measles virus Hemagglutinin protein (PubMed:22048310, PubMed:23202587). {ECO:0000269\|PubMed:22048310, ECO:0000269\|PubMed:23202587}.
Subcellular location:		Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell junction, adherens junction {ECO:0000269\|PubMed:11544254}. Note=Colocalizes with AFDN at cadherin- based adherens junctions (PubMed:11544254).
Subcellular location:		[Processed poliovirus receptor-related protein 4]: Secreted {ECO:0000269\|PubMed:15784625}. Note=The secreted form is found in breast tumor patients (PubMed:15784625).
Tissue specificity:		Predominantly expressed in placenta. Not detected in normal breast epithelium but expressed in breast carcinoma. {ECO:0000269\|PubMed:11544254, ECO:0000269\|PubMed:17474988}.
Ptm:		The soluble form is produced by proteolytic cleavage at the cell surface (shedding), probably by ADAM17/TACE. {ECO:0000269\|PubMed:15784625}.
Disease:		Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) [MIM:613573]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSS1 is characterized by the association of hair and teeth abnormalities with cutaneous syndactyly of the hands and/or feet. Hair morphologic abnormalities include twists at irregular intervals (pilli torti) and swelling along the shafts, particularly associated with areas of breakage. Dental findings consist of abnormally widely spaced teeth, with peg-shaped and conical crowns. Patients have normal sweating. {ECO:0000269\|PubMed:20691405}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the nectin family. {ECO:0000305}.