InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CD3D

Summary

InnateDB Protein

IDBP-73630.5

Last Modified

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

Gene Symbol

CD3D

Protein Name

CD3d molecule, delta (CD3-TCR complex)

Synonyms

CD3-DELTA; IMD19; T3D;

Species

Homo sapiens

Ensembl Protein

ENSP00000300692

InnateDB Gene

IDBG-73628 (CD3D)

Protein Structure

UniProt Annotation

Function

The CD3 complex mediates signal transduction.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Severe combined immunodeficiency autosomal recessive T- cell-negative/B-cell-positive/NK-cell-positive (T(-)B(+)NK(+) SCID) [MIM:608971]: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. {ECO:0000269PubMed:14602880}. Note=The disease is caused by mutations affecting the gene represented in this entry.Immunodeficiency 19 (IMD19) [MIM:615617]: An autosomal recessive form of severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T-cell negative, B-cell positive, NK- cell positive phenotype. {ECO:0000269PubMed:15546002, ECO:0000269PubMed:21883749}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	13 [view]
Protein-Protein	12 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003713	transcription coactivator activity
GO:0004888	transmembrane signaling receptor activity
GO:0005515	protein binding
GO:0046982	protein heterodimerization activity

Biological Process

GO:0007166	cell surface receptor signaling pathway
GO:0030217	T cell differentiation
GO:0031295	T cell costimulation
GO:0045059	positive thymic T cell selection
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0050776	regulation of immune response
GO:0050852	T cell receptor signaling pathway

Cellular Component

GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0042101	T cell receptor complex
GO:0042105	alpha-beta T cell receptor complex