Nectin-1 (PVRL1)

The protein contains 517 amino acids for an estimated molecular weight of 57158 Da.

 

Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between NECTIN1 and NECTIN3 and between NECTIN1 and NECTIN4. Has some neurite outgrowth-promoting activity.', '(Microbial infection) Acts as a receptor for herpes simplex virus 1/HHV-1, herpes simplex virus 2/HHV-2, and pseudorabies virus/PRV. (updated: Oct. 25, 2017)

Protein identification was indicated in the following studies:

  1. Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
  2. Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
  3. Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
  4. D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.

Methods

The following articles were analysed to gather the proteome content of erythrocytes.

The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.

PublicationIdentification 1Uniprot mapping 2Not mapped /
Obsolete		TrEMBLSwiss-Prot
Goodman (2013)2289 (gene list)227853205992269
Lange (2014)123412347281224
Hegedus (2015)2638262202352387
Wilson (2016)165815281702911068
d'Alessandro (2017)18261817201815
Bryk (2017)20902060101081942
Chu (2018)18531804553621387

1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry

The compilation of older studies can be retrieved from the Red Blood Cell Collection database.

The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.

No sequence conservation computed yet.
Protein sequence (FASTA)
Protein coevolution profile (FreeContact)
Multiple Sequence Alignment (Muscle)

This protein is annotated as membranous in Gene Ontology, is annotated as membranous in UniProt, is predicted to be membranous by TOPCONS.

Topcons

Interpro domains
Total structural coverage: 65%
Model score: 42
MODL_I-TASSER-3.0

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No binding partner found

The reference OMIM entry for this protein is 225060

Cleft lip/palate-ectodermal dysplasia syndrome; clped1
Zlotogora-ogur syndrome
Ectodermal dysplasia, margarita island type
Ectodermal dysplasia, type 4; ed4
Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly orofac

A number sign (#) is used with this entry because of evidence that the phenotype of syndactyly, ectodermal dysplasia, and cleft lip/palate is due to mutations in the gene encoding the cell-cell adhesion molecule/herpesvirus receptor, PVRL1 (600644). Mutation in the PVRL1 gene has also been found in a form of orofacial cleft (OFC7).

CLINICAL FEATURES

Zlotogora et al. (1987) reported 2 sibs with a syndrome including cleft lip and palate, sparse scalp hair, malformed protruding ears, and partial syndactyly of the fingers and toes. An older sib also had mental retardation and pili torti. The parents were consanguineous. In 2 Turkish sibs, products of a second-cousin marriage, Ogur and Yuksel (1988) found the combination of tetramelic syndactyly, ectodermal dysplasia, cleft lip and palate, renal anomalies, and mental retardation. In 3 Brazilian brothers and a half brother, all born of first-cousin matings in a Brazilian kindred, Rodini and Richieri-Costa (1990) described a syndrome which they proposed to call the Zlotogora-Ogur syndrome on the basis of the reports by Zlotogora et al. (1987) and Ogur and Yuksel (1988). The features were ectodermal dysplasia, bilateral cleft lip/palate, mental retardation, and syndactyly of fingers 2 and 3. In the Caribbean island of Margarita off the coast of northeastern Venezuela (Nueva Esparta State), Bustos et al. (1991) identified a form of ectodermal dysplasia in 15 females and 12 males in 7 families, each with considerable consanguinity. It was considered likely that the 7 families were related to each other. The patients had scanty eyebrows and eyelashes, sparse, short and dry scalp hair, and striking changes in the teeth, which showed hypodontia mainly of the upper lateral incisors and changes in size and shape. Cleft lip/palate (in 7), syndactyly of fingers and toes (in 13), and onychodysplasia were often also observed. Males and females were affected to an equal degree, although in general severity was variable. Notably, sweating was normal in all. Zlotogora (1994) gave a review of the syndrome of syndactyly, ectodermal dysplasia, and cleft lip/palate in which he proposed that the disorder called Zlotogora-Ogur syndrome (Zlotogora and Ogur, 1988) is the same as that reported by Bustos et al. (1991) and referred to here as the Margarita form of ectodermal dysplasia. Mental retardation was present in those families described as having Zlotogora-Ogur syndrome but absent in the Margarita families. Zlotogora (1994) noted that mental development may differ from family to family. Zlotogora (1994) and Rodini and Richieri-Costa (1990) considered this to be a separate disorder from that described by Rosselli and Gulienetti (1961) (see 225000) and from other clefting-ectodermal dysplasia syndromes with limb involvement. Suzuki et al. (1998) pointed out that Columbus discovered Isla de Margarita, a group of 3 islands in the south-central Caribbean, in 1498 and that one of the earliest Spanish colonies in the New World was established there. They also commented that the philtrum is strikingly broad and flat in many Margarita Island ectodermal dysplasia (ED) obligate heterozygotes, who would be expected to number perhaps 1 in 22 among the indigenous population of the island. The incidence of nonsyndromic cleft lip/cleft palate is quite high on Margarita Island, approximately 5.4 per 1,000. Although this high incidence might result from environmental factors, such as lack of dietary folate, it is also ... More on the omim web site

Subscribe to this protein entry history

Feb. 10, 2018: Protein entry updated
Automatic update: Entry updated from uniprot information.

Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated

Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated

Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated

March 16, 2016: Protein entry updated
Automatic update: OMIM entry 225060 was added.

Jan. 24, 2016: Protein entry updated
Automatic update: model status changed