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  2. CD1E - CD1e molecule Gene

CD1E - CD1e molecule Gene

中文名称:CD1e 分子

种属: Homo sapiens

同用名: R2; CD1A

基因 ID: 913 | 基因类型: protein coding

关于 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.

功能概要

该基因编码跨膜糖蛋白 CD1 家族的成员,其在结构上与主要组织相容性复合体 (MHC) 蛋白相关,并与 β-2-微球蛋白形成异二聚体。 CD1 蛋白介导自身或微生物来源的主要脂质和糖脂抗原向 T 细胞的呈递。人类基因组包含五个 CD1 家族基因,它们在 1 号染色体上排列成簇。CD1 家族成员被认为在细胞定位和对特定脂质配体的特异性方面存在差异。由该基因编码的蛋白质位于高尔基体区室、核内体和溶酶体中,并被切割成稳定的可溶形式。某些糖脂在细胞内加工成可由其他 CD1 家族成员呈递的形式需要可溶性形式。已经描述了许多编码不同亚型的可变剪接转录物变体。已发现其他转录本变体;然而,它们的生物学有效性尚未确定。[RefSeq 提供,2010 年 6 月]

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 基因产物(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 蛋白结构

C1-set

C1-set: Immunoglobulin C1-set domain (226 - 293)

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  • 388 a.a.
蛋白主名 其他名称

T-cell surface glycoprotein CD1e, membrane-associated

CD1E antigen, e polypeptide

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Macaca fascicularis CD1E NCBI NCBI:102139678