CD1E - CD1e molecule Gene

Also Known as R2; CD1A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 913

About CD1E

Cytogenetic location: 1q23.1 Genomic coordinates (GRCh38): 1:158,353,894-158,357,553 (from NCBI)

This gene has 15 transcripts (splice variants), 406 orthologues and 22 paralogues. Broad expression in skin (RPKM 3.1), esophagus (RPKM 2.3) and 18 other tissues.

Summary

This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes within Golgi compartments, endosomes, and lysosomes, and is cleaved into a stable soluble form. The soluble form is required for the intracellular processing of some glycolipids into a form that can be presented by Other CD1 family members. Many alternatively spliced transcript variants encoding different isoforms have been described. Additional transcript variants have been found; however, their biological validity has not been determined. [provided by RefSeq, Jun 2010]

CD1E Products (13)

mRNA	Protein	Name
NM_001042583.3	NP_001036048.1	T-cell surface glycoprotein CD1e, membrane-associated isoform b precursor
NM_001042584.3	NP_001036049.1	T-cell surface glycoprotein CD1e, membrane-associated isoform c precursor
NM_001042585.3	NP_001036050.1	T-cell surface glycoprotein CD1e, membrane-associated isoform d precursor
NM_001042586.3	NP_001036051.1	T-cell surface glycoprotein CD1e, membrane-associated isoform e precursor
NM_001042587.3	NP_001036052.1	T-cell surface glycoprotein CD1e, membrane-associated isoform f precursor
NM_001185107.2	NP_001172036.1	T-cell surface glycoprotein CD1e, membrane-associated isoform g precursor
NM_001185108.2	NP_001172037.1	T-cell surface glycoprotein CD1e, membrane-associated isoform i precursor
NM_001185110.2	NP_001172039.1	T-cell surface glycoprotein CD1e, membrane-associated isoform l precursor
NM_001185112.2	NP_001172041.1	T-cell surface glycoprotein CD1e, membrane-associated isoform j precursor
NM_001185113.2	NP_001172042.1	T-cell surface glycoprotein CD1e, membrane-associated isoform k precursor
NM_001185114.2	NP_001172043.1	T-cell surface glycoprotein CD1e, membrane-associated isoform m precursor
NM_001185115.2	NP_001172044.1	T-cell surface glycoprotein CD1e, membrane-associated isoform h precursor
NM_030893.4	NP_112155.2	T-cell surface glycoprotein CD1e, membrane-associated isoform a precursor

CD1E Protein Structure

C1-set

0
100
200
300
388 a.a.

Protein Preferred Names	Protein Names
T-cell surface glycoprotein CD1e, membrane-associated	CD1E antigen, e polypeptide

Related Diseases

Diseases	Alias
Follicular Dendritic Cell Sarcoma	Dendritic Cell Sarcoma Dendritic Cell Sarcoma, Follicular Follicular Dendritic Cell Tumour Dendritic Cell Sarcoma, Interdigitating Dendritic Cell Sarcoma, Not Otherwise Specified
Non-Langerhans-Cell Histiocytosis	Histiocytosis, Non-Langerhans-Cell Non-Langerhans Cell Histiocytosis
Adult Xanthogranuloma
Interdigitating Dendritic Cell Sarcoma	Interdigitating Cell Sarcoma Dendritic Cell Sarcoma, Interdigitating Reticulum Cell Sarcoma
Reticulohistiocytic Granuloma	Reticulohistiocytoma Solitary Reticulohistiocytoma Solitary Histiocytoma Solitary Reticulohistiocytosis
Rhinoscleroma
Histiocytic And Dendritic Cell Cancer	Histiocytic And Dendritic Cell
Cobblestone Retinal Degeneration	Paving Stone Retinal Degeneration Paving Stone Degeneration Of Retina
Langerhans Cell Sarcoma	Malignant Langerhans Cell Sarcoma
Multicentric Reticulohistiocytosis	Lipoid Dermatoarthritis Giant Cell Histiocytomatosis
Juvenile Xanthogranuloma	Multiple Eruptive Juvenile Xanthogranuloma Naevoxanthoendothelioma Xanthoma Neviforme Xanthogranuloma, Juvenile
Mastocytosis, Cutaneous	Urticaria Pigmentosa Cutaneous Mastocytosis Diffuse Cutaneous Mastocytosis Maculopapular Cutaneous Mastocytosis Mastocytosis, Diffuse Cutaneous MASTC Mastocytosis, Maculopapular Cutaneous Mastocytosis, Systemic, Somatic Mastocytoma Dcm Diffuse Cutaneous Maculopapulous Mastocytosis Up/Mpcm Cm Mastocytosis, Systemic MASTSYS Mast Cell Disease Mast-Cell Disease Mast Cell Leukemia Mastocytosis, Indolent Mastocytosis With Associated Hematologic Disorder Mast Cell Neoplasm Benign Mastocytoma
Spongiotic Dermatitis
Mixed Type Thymoma	Thymoma, Mixed Type Thymoma, Type Ab
Orbital Cancer	Malignant Neoplasm Of Orbit Orbital Tumor Orbital Neoplasms Neoplasm Of Orbit Proper Orbit Cancer Primary Malignant Neoplasm Of Orbit Intraorbital Cancer
Fibrosarcoma Of Bone	Malignant Histiocytosis Malignant Fibroxanthoma Malignant Fibrous Histiocytoma Histiocytic Medullary Reticulosis Nasal Type Extranodal Nk/T-Cell Lymphoma Histiocytic Sarcoma
Erdheim-Chester Disease	Ecd Erdheim Chester Disease Lipoid Granulomatosis Lipid Granulomatosis Polyostotic Sclerosing Histiocytosis
Granuloma Annulare	Granulome Annulare Ga - [Granuloma Annulare]
Langerhans Cell Histiocytosis	Histiocytosis X Lch Langerhans Cell Granulomatosis Langerhans-Cell Histiocytosis Letterer-Siwe Disease Hashimoto-Pritzger Disease Histiocytosis, Langerhans-Cell Langerhan'S Cell Histiocytosis Letterer-Siwe Disease Involving Intra-Abdominal Lymph Nodes Letterer-Siwe Disease Involving Intrapelvic Lymph Nodes Letterer-Siwe Disease Involving Intrathoracic Lymph Nodes Letterer-Siwe Disease Involving Lymph Nodes Of Axilla And Upper Limb Letterer-Siwe Disease Involving Lymph Nodes Of Head, Face And Neck Letterer-Siwe Disease Involving Lymph Nodes Of Head, Face, And Neck Letterer-Siwe Disease Involving Lymph Nodes Of Inguinal Region And Lower Limb Letterer-Siwe Disease Involving Lymph Nodes Of Multiple Sites Letterer-Siwe Disease Involving Spleen Letterer-Siwe Disease Of Intra-Abdominal Lymph Nodes Letterer-Siwe Disease Of Intrapelvic Lymph Nodes Letterer-Siwe Disease Of Intrathoracic Lymph Nodes Letterer-Siwe Disease Of Lymph Nodes Of Axilla And Upper Limb Letterer-Siwe Disease Of Lymph Nodes Of Axilla And/Or Upper Limb Letterer-Siwe Disease Of Lymph Nodes Of Head, Face And Neck Letterer-Siwe Disease Of Lymph Nodes Of Head, Face And/Or Neck Letterer-Siwe Disease Of Lymph Nodes Of Inguinal Region Amd/Or Lower Limb Letterer-Siwe Disease Of Lymph Nodes Of Inguinal Region And Lower Limb Letterer-Siwe Disease Of Lymph Nodes Of Inguinal Region And/Or Lower Limb Letterer-Siwe Disease Of Lymph Nodes Of Multiple Sites Letterer-Siwe Disease Of Spleen Familial Letterer-Siwe Disease Langerhans-Cell Histiocytosis Nos
Mixed Phenotype Acute Leukemia, T/Myeloid	Doid:0081039
Histiocytosis-Lymphadenopathy Plus Syndrome	H Syndrome Histiocytosis With Joint Contractures And Sensorineural Deafness Faisalabad Histiocytosis Shml Hjcd Rosai-Dorfman Disease Pigmented Hypertrichosis With Insulin-Dependent Diabetes Mellitus Phid Sinus Histiocytosis And Massive Lymphadenopathy Familial Rosai-Dorfman Disease Slc29a3 Spectrum Disorder Sinus Histiocytosis With Massive Lymphadenopathy Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures, And/Or Deafness Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without Hearing Loss Rosai-Dorfman Disease, Familial Cutaneous Hyperpigmentation With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without Hearing Loss Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures And/Or Deafness Rdd Rosaï-Dorfman Disease Slc29a3 Disorder Destombes-Rosai-Dorfman Disease Rosai-Dorfman-Destombes Disease HLAS Cutaneous Hyperpigmentation With Hypertrichosis Hepatosplenomegaly Heart Anomalies And Hypogonadism With Or Without Hearing Loss Histiocytosis And Lymphadenopathy With Or Without Cutaneous Cardiac And/Or Endocrine Features Joint Contractures And/Or Deafness H Disease Sinus Histiocytosis
Polyclonal Hypergammaglobulinemia	Polyclonal Gammopathy
Malignant Histiocytic Disease	Histiocytic Disorders, Malignant
Lichen Nitidus	Pinkus' Disease
Exophthalmos	Proptosis
Dendritic Cell Thymoma	Epithelioid Thymoma Type B Thymoma
Inflamed Seborrheic Keratosis
B-Lymphoblastic Leukemia/Lymphoma With Hypodiploidy	B-All With Hypodiploidy Hypodiploid All
Orbital Disease	Orbit Orbital Diseases
Kimura Disease	Kimura'S Disease Eosinophilic Lymphogranuloma Eosinophilic Granuloma Of Soft Tissue Eosinophilic Hyperplastic Lymphogranuloma Eosinophilic Lymphofollicular Granuloma Eosinophilic Lymphofolliculosis
Histiocytic Sarcoma	Malignant Histiocytosis
Seborrheic Dermatitis	Seborrhoeic Dermatitis Seborrhea Seborrhoeic Eczema Skin Seborrheic Dermatitis, Seborrheic
Lymphoid Interstitial Pneumonia	Lymphocytic Interstitial Pneumonia Lip Disease Lip Diseases LIP Disease Of Lips
Granulomatous Dermatitis
Central Diabetes Insipidus	Neurogenic Diabetes Insipidus Diabetes Insipidus Cranial Type Diabetes Insipidus Neurogenic Diabetes Insipidus Neurohypophyseal Neurohypophyseal Diabetes Insipidus Pituitary Diabetes Insipidus Cdi Doid:0081055 Diabetes Insipidus Di - [Diabetes Insipidus] Adh - [Antidiuretic Hormone Secretion] Deficiency Diabetes Mellitus Insipidus Familial Diabetes Insipidus Antidiuretic Hormone Hyposecretion Vasopressin Deficiency Syndrome Primary Central Diabetes Insipidus Vasopressin Deficiency Vasopressin Hyposecretion Diabetes Insipidus Secondary To Vasopressin Deficiency
Verruciform Xanthoma Of Skin	Verruciform Xanthoma Cutaneous Verruciform Xanthoma
Epithelial Malignant Thymoma	Squamoid Thymoma Thymoma, Epithelial Well Differentiated Thymic Carcinoma Thymoma, Type B3
Large Cell Acanthoma
Predominantly Cortical Thymoma	Lymphocyte-Predominant Thymoma Thymoma, Organoid Thymoma, Type B1
Encapsulated Thymoma
Frontal Sinus Benign Neoplasm	Neoplasm Of Frontal Sinus Tumor Of The Frontal Sinus
Beach Ear	Acute Swimmer'S Ear Acute Bacterial Inflammation Of External Ear Acute Otitis Externa, Diffuse Acute Swimmers' Ear Tank Ear
Otorrhea	Discharging Ear
Cortical Thymoma	Polygonal Cell Thymoma Thymoma, Cortical Thymoma, Type B2
Chronic Laryngitis
Interstitial Pneumonitis, Desquamative, Familial	Desquamative Interstitial Pneumonia DIP Pneumonitis, Desquamative Interstitial, Familial Pneumonia, Desquamative Interstitial, Familial Interstitial Lung Disease, Desquamative Ild, Desquamative Familial Desquamative Interstitial Pneumonitis Rbild Respiratory Bronchiolitis-Associated Interstitial Lung Disease Respiratory Bronchiolitis Associated Interstitial Lung Disease
Necrobiosis Lipoidica	Oppenheim-Urbach Disease Necrobiosis Lipoidica Diabeticorum
Geographic Tongue	Benign Migratory Glossitis Glossitis Areata Exfoliativa Glossitis, Benign Migratory Pityriasis Linguae Ectopic Geographic Tongue Erythema Migrans Erythema Chronicum Migrans Benign Migrating Glossitis Geographical Tongue Lingua Geographica Erythema Migrans Of Tongue Wandering Rash Of Tongue
Igg4-Related Disease	Multifocal Fibrosclerosis Igg4-Related Sclerosing Disease Igg4-Related Systemic Disease Immunoglobulin G4-Related Sclerosing Disease Hyper-Igg4 Disease Igg4-Associated Disease Igg4-Positive Multiorgan Lymphoproliferative Syndrome Igg4-Related Autoimmune Disease Igg4-Related Systemic Sclerosing Disease Igg4-Syndrome Multifocal Idiopathic Fibrosclerosis Systemic Igg4-Related Plasmacytic Syndrome Systemic Igg4-Related Sclerosing Syndrome Mediastinal Fibrosis, Familial Retroperitoneal Fibrosis, Familial Igg4-Rd
Follicular Mucinosis	Alopecia Mucinosa Mucinosis, Follicular
Balloon Cell Malignant Melanoma
Connective Tissue Benign Neoplasm	Soft Tissue Neoplasms Mesenchymal Tissue Neoplasm Neoplasm Of Soft Tissue Neoplasm Of Soft Tissues Soft Tissue Benign Neoplasm Tumor Of The Soft Tissue Soft Tissue Neoplasm
Pityriasis Rosea	Pityriasis Circinata Gibert Pityriasis
Vulvar Proximal-Type Epithelioid Sarcoma
Central Epithelioid Sarcoma	Proximal-Type Epithelioid Sarcoma
Lobomycosis	Cutaneous Blastomycosis Cutaneous Lobomycosis Infection By Loboa Loboi Lobo Disease
Diencephalic Astrocytoma	Astrocytoma Of Diencephalon
Scabies	Sarcoptic Itch Infestation By Sarcoptes Scabiei Infestation By Sarcoptes Scabiei Var Hominis Infestation By Sarcoptes Scabiei Var. Hominis
Folliculitis
Lichen Disease
Keratosis, Seborrheic	Seborrheic Keratosis Keratosis, Seborrheic, Somatic Basal Cell Papilloma Keratosis Seborrheica KERSEB
Atrophic Glossitis	Atrophy Of Tongue Papillae Glossitis, Hunter'S Hunter'S Glossitis Smooth Atrophic Tongue Hunter Glossitis Central Papillary Atrophy Of The Tongue
Mite Infestation	Mite Infestations Acariasis Infestation By Mites Nos
T-Cell Prolymphocytic Leukemia	T Cell Prolymphocytic Leukemia Prolymphocytic Leukemia, T-Cell Type T-Pll T-Cell Chronic Lymphocytic Leukemia Lymphocytic Leukemia T-Cell Chronic Doid:0081042 Leukemia, T-Cell, Chronic Prolymphocytic Leukaemia Of T-Cell Type Without Mention Of Remission
Thymus Gland Disease	Disease Of Thymus Gland
Thymus Cancer	Thymic Neoplasm Thymic Tumor Thymus Neoplasm Thymus Neoplasms Malignant Neoplasm Of Thymus Neoplasm Of Thymus Thymic Neoplasms Thymoma, Familial Thymic Carcinoma Thymoma, Type C Cancer Of Thymus Malignant Tumour Of Thymus Primary Malignant Neoplasm Of Thymus Thymic Glandular Cancer Thymus Gland Cancer
Hypersensitivity Reaction Type Iv Disease	Immunoproliferative Disorders Immunoproliferative Disease
Nodular Tenosynovitis	Synovioma, Benign Benign Synovioma Benign Tumor Of Synovium Localized Giant Cell Tumor Of Tenosynovium Giant Cell Tumor Of Tendon Sheath
Leprosy 3	Leprosy Leprosy, Susceptibility To, 3 Hansen'S Disease Leprosy, Susceptibility To Hansen Disease Infection Due To Mycobacterium Leprae LPRS3 Leprosy, Type 3 Anaesthesia Leprosy Anaesthetic Leprosy Maculoanaesthetic Leprosy Macular Leprosy Leprosy Unspecified
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Meningioma, Familial	Meningioma Familial Meningioma Meningioma, Familial, Susceptibility To Meningeal Neoplasm Meningeal Neoplasms Meningiomas Meningioma, Nf2-Related, Somatic Meningioma, Sis-Related Meningothelial Cell Tumor Neoplasm Of The Meninges Primary Meningeal Tumor Familial Multiple Meningioma MNGMA Meningioma, Benign, No Icd-O Subtype Intracranial Meningioma Meningothelial Cell Neoplasm Supratentorial Meningioma Primary Neoplasm Of Spinal Meninges Benign Intracranial Meningioma Benign Meningioma Meningeal Tumours Meningeal Sarcoma Of Unspecified Site Meningothelial Sarcoma Of Unspecified Site

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02202	CD1D Human Pre-designed siRNA Set A	Inhibitor	/	Unkown