Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	5818
Gene name	Nectin cell adhesion molecule 1
Gene symbol	NECTIN1
Synonyms (NCBI Gene)	CD111CLPED1ED4HIgRHV1SHVECOFC7PRRPRR1PVRL1PVRRPVRR1SK-12nectin-1
Chromosome	11
Chromosome location	11q23.3
Summary	This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium(2+)-independent cell-cell adhesion molecule that belongs to the immunoglobu

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894281	C>T	Pathogenic	Coding sequence variant, stop gained
rs876657374	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs878853255	->A	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (71)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001618	Function	Virus receptor activity	IBA
GO:0001618	Function	Virus receptor activity	IDA	22146396, 25231300, 28542478, 34587223
GO:0001618	Function	Virus receptor activity	IEA
GO:0002089	Process	Lens morphogenesis in camera-type eye	IEA
GO:0002934	Process	Desmosome organization	IEA
GO:0005515	Function	Protein binding	IPI	11277703, 21982860, 22902367, 26787460, 32296183, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21325282, 34587223
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IDA	10225955
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	NAS	12885915
GO:0006826	Process	Iron ion transport	IEA
GO:0006955	Process	Immune response	NAS	10932188
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	NAS	12764381
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IDA	21325282
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	ISS
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IDA	21325282
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS
GO:0007411	Process	Axon guidance	IEA
GO:0015026	Function	Coreceptor activity	TAS	9616127
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10932188
GO:0016020	Component	Membrane	TAS	9616127
GO:0030246	Function	Carbohydrate binding	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0032584	Component	Growth cone membrane	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	21982860, 22902367
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043296	Component	Apical junction complex	IBA
GO:0043296	Component	Apical junction complex	IEA
GO:0044291	Component	Cell-cell contact zone	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045202	Component	Synapse	IEA
GO:0046718	Process	Symbiont entry into host cell	IDA	22146396, 25231300, 28542478
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0046718	Process	Symbiont entry into host cell	NAS	12885915
GO:0046790	Function	Virion binding	IEA
GO:0048593	Process	Camera-type eye morphogenesis	IEA
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0050807	Process	Regulation of synapse organization	IEA
GO:0050839	Function	Cell adhesion molecule binding	IPI	12438620
GO:0051963	Process	Regulation of synapse assembly	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070166	Process	Enamel mineralization	IEA
GO:0090103	Process	Cochlea morphogenesis	IEA
GO:0090103	Process	Cochlea morphogenesis	ISS
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	NAS	12885915
GO:0098631	Function	Cell adhesion mediator activity	IBA
GO:0098631	Function	Cell adhesion mediator activity	IDA	21325282
GO:0098631	Function	Cell adhesion mediator activity	IEA
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:1902414	Process	Protein localization to cell junction	IBA
GO:1902414	Process	Protein localization to cell junction	IEA

MIM	HGNC	e!Ensembl
600644	9706	ENSG00000110400

Q15223

Protein name

Nectin-1 (Herpes virus entry mediator C) (Herpesvirus entry mediator C) (HveC) (Herpesvirus Ig-like receptor) (HIgR) (Nectin cell adhesion molecule 1) (Poliovirus receptor-related protein 1) (CD antigen CD111)

Protein function

Cell adhesion molecule that promotes cell-cell contacts and plays important roles in the development of the nervous system (PubMed:21325282). Acts by forming homophilic or heterophilic trans-dimers (PubMed:21325282). Heterophilic interactions ha

PDB

3ALP , 3SKU , 3U82 , 3U83 , 4FMF , 4MYW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07686	V-set	34 → 143	Immunoglobulin V-set domain	Domain
PF08205	C2-set_2	148 → 237	CD80-like C2-set immunoglobulin domain	Domain
PF13927	Ig_3	246 → 320		Domain

Sequence

MARMGLAGAAGRWWGLALGLTAFFLPGVHSQVVQVNDSMYGFIGTDVVLHCSFANPLPSV
KITQVTWQKSTNGSKQNVAIYNPSMGVSVLAPYRERVEFLRPSFTDGTIRLSRLELEDEG
VYICEFATFPTGNRESQLNLTVMAKPTNWIEGTQAVLRAKKGQDDKVLVATCTSANGKPP
SVVSWETRLKGEAEYQEIRNPNGTVTVISRYRLVPSREAHQQSLACIVNYHMDRFKESLT
LNVQYEPEVTIEGFDGNWYLQRMDVKLTCKADANPPATEYHWTTLNGSLPKGVEAQNRTL
FFKGPINYSLAGTYICEATNPIGTRSGQVEVNITEFPYTPSPPEHGRRAGPVPTAIIGGV
AGSILLVLIVVGGIVVALRRRRHTFKGDYSTKKHVYGNGYSKAGIPQHHPPMAQNLQYPD
DSDDEKKAGPLGGSSYEEEEEEEEGGGGGERKVGGPHPKYDEDAKRPYFTVDEAEARQDG
YGDRTLGYQYDPEQLDLAENMVSQNDGSFISKKEWYV

Sequence length

517

Interactions

View interactions

179

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cleft lip/palate-ectodermal dysplasia syndrome	Pathogenic; Likely pathogenic	rs769476648, rs104894281, rs876657374, rs878853255, rs778591472, rs2135551778	RCV002267572 RCV000009531 RCV000009533 RCV000009534 RCV003984996 RCV001376126
Orofacial cleft 7	Pathogenic	rs104894281	RCV000009532

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Likely benign	rs150553818	RCV005901061
Clear cell carcinoma of kidney	Benign; Likely benign	rs150553818	RCV005901062
Colon adenocarcinoma	Benign; Likely benign	rs150553818	RCV005901059
Malignant tumor of esophagus	Benign; Likely benign	rs150553818	RCV005901060
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs889179187	RCV005930320
NECTIN1-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs1177270293, rs78586273, rs58471168, rs111750499, rs1301703378, rs766791883, rs141063530, rs148089030, rs111847127, rs137909701, rs137991779, rs116441631, rs78809001, rs146919951, rs7131391, rs146113849, rs542760632 View all (2 more)	RCV003894253 RCV003907258 RCV003941892 RCV003961550 RCV003959228 RCV003961462 RCV003949124 RCV003946943 RCV003971625 RCV003978356 RCV003943183 RCV003920739 RCV003920537 RCV003930824 RCV003920740 RCV003968176 RCV003958234 RCV003977930

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arthritis Rheumatoid	Associate	19180502
Ascites	Associate	28038455
Atypical Squamous Cells of the Cervix	Inhibit	16879022
Breast Neoplasms	Associate	20543867, 24386110
Calcinosis Cutis	Stimulate	24386110
Carcinoma Adenoid Cystic	Associate	23583282
Carcinoma Hepatocellular	Associate	26058814
Carcinoma Squamous Cell	Inhibit	16879022
Carcinoma Squamous Cell	Associate	20855955
Cleft Lip	Associate	22455396, 9758630
Cleft Palate	Associate	19715471, 22455396, 36901988, 9758630
Cognition Disorders	Associate	38502899
Colonic Neoplasms	Associate	19129446
Diabetes Mellitus	Associate	36066992
Herpes Simplex	Associate	35119473
Infections	Associate	19129446, 21139972
Inflammation	Associate	28469996, 33052966
Inflammatory Bowel Diseases	Associate	26240347, 34353900
Keratitis Herpetic	Associate	35119473
Lupus Erythematosus Systemic	Associate	21886831
Nail dysplasia isolated congenital	Associate	9758630
Neonatal herpes	Associate	35119473
Neoplasm Invasiveness	Inhibit	16879022
Neoplasm Metastasis	Associate	28038455
Neoplasms	Inhibit	16879022
Neoplasms	Associate	23583282
Orofacial Cleft 1	Associate	17089422, 19715471, 25966106, 27527345
Retinal Dysplasia	Associate	16879022
Sepsis	Associate	34769069
Skin Neoplasms	Inhibit	16879022
Syndactyly	Associate	9758630
Urinary Bladder Neoplasms	Associate	34625065
Uterine Cervical Neoplasms	Associate	16879022
Virus Diseases	Associate	26041281, 34468169
Zlotogora Ogur syndrome	Associate	16740910, 17089422, 19715471, 22455396, 9758630

NECTIN1 (nectin cell adhesion molecule 1)