InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EDA

Summary

InnateDB Protein

IDBP-585174.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EDA

Protein Name

ectodysplasin A

Synonyms

ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2; EDA1; EDA2; HED; HED1; ODT1; STHAGX1; XHED; XLHED;

Species

Homo sapiens

Ensembl Protein

ENSP00000434195

InnateDB Gene

IDBG-74170 (EDA)

Protein Structure

UniProt Annotation

Function

Seems to be involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Isoform 1 binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor XEDAR.

Subcellular Localization

Cell membrane; Single-pass type II membrane protein.Ectodysplasin-A, secreted form: Secreted.

Disease Associations

Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias. {ECO:0000269PubMed:10469321, ECO:0000269PubMed:10951256, ECO:0000269PubMed:11279189, ECO:0000269PubMed:11295832, ECO:0000269PubMed:11343303, ECO:0000269PubMed:11378824, ECO:0000269PubMed:12225002, ECO:0000269PubMed:12932274, ECO:0000269PubMed:17256800, ECO:0000269PubMed:18231121, ECO:0000269PubMed:19127222, ECO:0000269PubMed:19438931, ECO:0000269PubMed:20486090, ECO:0000269PubMed:20979233, ECO:0000269PubMed:22008666, ECO:0000269PubMed:22350046, ECO:0000269PubMed:8696334, ECO:0000269PubMed:9507389, ECO:0000269PubMed:9630076, ECO:0000269PubMed:9683615, ECO:0000269PubMed:9736768}. Note=The disease is caused by mutations affecting the gene represented in this entry.Tooth agenesis selective X-linked 1 (STHAGX1) [MIM:313500]: A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). {ECO:0000269PubMed:16583127, ECO:0000269PubMed:18657636}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Not abundant; expressed in specific cell types of ectodermal (but not mesodermal) origin of keratinocytes, hair follicles, sweat glands. Also in adult heart, liver, muscle, pancreas, prostate, fetal liver, uterus, small intestine and umbilical chord. {ECO:0000269Ref.6}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005102	receptor binding
GO:0005164	tumor necrosis factor receptor binding
GO:0005515	protein binding

Biological Process

GO:0006955	immune response
GO:0007165	signal transduction
GO:0007398	ectoderm development
GO:0030154	cell differentiation
GO:0051092	positive regulation of NF-kappaB transcription factor activity

Cellular Component

GO:0005576	extracellular region
GO:0005581	collagen trimer
GO:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0043231	intracellular membrane-bounded organelle