RBCC Red Blood Cell Collection

PVRL1_HUMAN

Source: PM23856902
BD_CD
BSc_CH
PM22954596
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)
Gene names: PVRL1 , HVEC, PRR1
Protein names and data: PVRL1_HUMAN , Poliovirus receptor-related protein 1 , Herpes virus entry mediator C; Herpesvirus entry mediator C; HveC; Herpesvirus Ig-like receptor; HIgR; Nectin-1; CD111; Flags: Precursor Lenght: 517 a.a.
Mass: 57158 Da
fasta formatted sequence
Function: Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between PVRL1/nectin-1 and PVRL3/nectin-3 and between PVRL1/nectin-1 and PVRL4/nectin-4. Functions as an entry receptor for herpes simplex virus and pseudorabies virus.
Disease: ( OMIM: 225060 600644 ) Ectodermal dysplasia, Margarita Island type (EDMI) [MIM:225060]: An autosomal recessive form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is a syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails. Note=The disease is caused by mutations affecting the gene represented in this entry. Non-syndromic orofacial cleft 7 (OFC7) [MIM:225060]: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Isoform Alpha: Cell membrane; Single-pass type I membrane protein. Isoform Delta: Cell membrane; Single-pass type I membrane protein. Isoform Gamma: Secreted.

Database cross-references

UniProt: Q15223
Ensembl: ENST00000264025
Ensembl: ENST00000340882
Ensembl: ENST00000341398
MIM: 225060
MIM: 600644
neXtProt: NX_Q15223
Antibodypedia: Q15223 (may not find the protein thus also not any antibody)
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