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  2. CD1D - CD1d molecule Gene

CD1D - CD1d molecule Gene

中文名称:CD1d 分子

种属: Homo sapiens

同用名: R3; CD1A; R3G1

基因 ID: 912 | 基因类型: protein coding

关于 CD1D

Cytogenetic location: 1q23.1 Genomic coordinates (GRCh38): 1:158,178,030-158,186,427 (from NCBI)

This gene has 7 transcripts (splice variants), 429 orthologues and 22 paralogues. Broad expression in appendix (RPKM 5.0), spleen (RPKM 5.0) and 17 other tissues.

功能概要

该基因编码跨膜糖蛋白 CD1 家族的不同成员,这些成员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通过细胞质尾部的基于酪氨酸的基序定位于晚期内体和溶酶体。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2016 年 1 月]

This gene encodes a divergent 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 to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

CD1D 基因产物(5)

mRNA Protein Name
NM_001319145.2 NP_001306074.1 antigen-presenting glycoprotein CD1d isoform 2 precursor
NM_001371761.1 NP_001358690.1 antigen-presenting glycoprotein CD1d isoform 3
NM_001371762.2 NP_001358691.1 antigen-presenting glycoprotein CD1d isoform 1 precursor
NM_001371763.1 NP_001358692.1 antigen-presenting glycoprotein CD1d isoform 1 precursor
NM_001766.4 NP_001757.1 antigen-presenting glycoprotein CD1d isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cell adhesion molecule binding IPI
IPI: 通过物理相互作用推断
19124746 GOA
enables exogenous lipid antigen binding IDA
IDA: 通过直接分析推断
10523605 GOA
enables lipid antigen binding IDA
IDA: 通过直接分析推断
19124746 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
30126976 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in antigen processing and presentation, endogenous lipid antigen via MHC class Ib IDA
IDA: 通过直接分析推断
10523605 GOA
involved in positive regulation of T cell proliferation IDA
IDA: 通过直接分析推断
19124746 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
19124746 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
19124746 GOA
located in lysosome IDA
IDA: 通过直接分析推断
21802320 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CD1D 蛋白结构

C1-set

C1-set: Immunoglobulin C1-set domain (221 - 287)

  • 0
  • 100
  • 200
  • 300
  • 335 a.a.
蛋白主名 其他名称

antigen-presenting glycoprotein CD1d

CD1D antigen, d polypeptide

重组 CD1D 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74326 CD1D-B2M Heterodimer Protein, Human (HEK293, His) P15813 (E20-S301)&P61769 (I21-M119) ≥95%

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

Langerhans Cell Sarcoma

Malignant Langerhans Cell Sarcoma

Histiocytic And Dendritic Cell Cancer

Histiocytic And Dendritic Cell

Juvenile Xanthogranuloma

Multiple Eruptive Juvenile Xanthogranuloma

Naevoxanthoendothelioma

Xanthoma Neviforme

Xanthogranuloma, Juvenile

Interdigitating Dendritic Cell Sarcoma

Interdigitating Cell Sarcoma

Dendritic Cell Sarcoma, Interdigitating

Reticulum Cell Sarcoma

Adult Xanthogranuloma
Multicentric Reticulohistiocytosis

Lipoid Dermatoarthritis

Giant Cell Histiocytomatosis

Rhinoscleroma
Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease

Reticulohistiocytic Granuloma

Reticulohistiocytoma

Solitary Reticulohistiocytoma

Solitary Histiocytoma

Solitary Reticulohistiocytosis

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

Fibrosarcoma Of Bone

Malignant Histiocytosis

Malignant Fibroxanthoma

Malignant Fibrous Histiocytoma

Histiocytic Medullary Reticulosis

Nasal Type Extranodal Nk/T-Cell Lymphoma

Histiocytic Sarcoma

Granuloma Annulare

Granulome Annulare

Ga - [Granuloma Annulare]

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

Orbital Cancer

Malignant Neoplasm Of Orbit

Orbital Tumor

Orbital Neoplasms

Neoplasm Of Orbit Proper

Orbit Cancer

Primary Malignant Neoplasm Of Orbit

Intraorbital Cancer

Lymphoid Interstitial Pneumonia

Lymphocytic Interstitial Pneumonia

Lip Disease

Lip Diseases

LIP

Disease Of Lips

Chronic Laryngitis
Polyclonal Hypergammaglobulinemia

Polyclonal Gammopathy

Cobblestone Retinal Degeneration

Paving Stone Retinal Degeneration

Paving Stone Degeneration Of Retina

Spongiotic Dermatitis
Histiocytic Sarcoma

Malignant Histiocytosis

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

Exophthalmos

Proptosis

Periampullary Adenocarcinoma
Seborrheic Dermatitis

Seborrhoeic Dermatitis

Seborrhea

Seborrhoeic Eczema

Skin Seborrheic

Dermatitis, Seborrheic

Malignant Histiocytic Disease

Histiocytic Disorders, Malignant

Granulomatous Dermatitis
Multiple Sclerosis

MS

Multiple Sclerosis, Susceptibility To

Disseminated Sclerosis

Multiple Sclerosis, Disease Progression, Modifier Of

Insular Sclerosis

Multiple Sclerosis Modifier Of Disease Progression

Multiple Sclerosis, Susceptibility To 1

Multiple Sclerosis, Susceptibility To, 1

Multiple Sclerosis 1

Generalized Multiple Sclerosis

Multiple Sclerosis Variant

Multiple Sclerosis Susceptibility To

Cerebrospinal Sclerosis

Generalised Multiple Sclerosis

Ms - [Multiple Sclerosis]

Disseminated Cerebrospinal Sclerosis

Disseminated Multiple Sclerosis

Disseminated Nervous System Myelosclerosis

Multiple Cerebrospinal Sclerosis

Multiple Combined Sclerosis

Multiple Sclerosis Generalised

Disseminated Brain Sclerosis

Disseminated Spinal Sclerosis

Insular Brain Sclerosis

Miliary Brain Sclerosis

Multiple Combined Sclerosis Of Spinal Cord

Multiple Ascending Sclerosis

Multiple Brain Sclerosis

Multiple Sclerosis Of Brain Stem

Multiple Sclerosis Of The Brain Stem

Multiple Sclerosis Of Cord

Sclérose En Plaques

Plaque Sclerosis

Multiple Sclerosis Of The Spinal Cord

Large Cell Acanthoma
Orbital Disease

Orbit

Orbital Diseases

Frontal Sinus Benign Neoplasm

Neoplasm Of Frontal Sinus

Tumor Of The Frontal Sinus

Lichen Disease
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

Balloon Cell Malignant Melanoma
Diencephalic Astrocytoma

Astrocytoma Of Diencephalon

Beach Ear

Acute Swimmer'S Ear

Acute Bacterial Inflammation Of External Ear

Acute Otitis Externa, Diffuse

Acute Swimmers' Ear

Tank Ear

Keratosis, Seborrheic

Seborrheic Keratosis

Keratosis, Seborrheic, Somatic

Basal Cell Papilloma

Keratosis Seborrheica

KERSEB

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

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

Vulvar Proximal-Type Epithelioid Sarcoma
Central Epithelioid Sarcoma

Proximal-Type Epithelioid Sarcoma

Primary Biliary Cholangitis

Primary Biliary Cirrhosis

Biliary Liver Cirrhosis

Chronic Nonsuppurative Destructive Cholangitis

Familial Primary Biliary Cirrhosis

Pbc

Hanot Syndrome

Cholestatic Cirrhosis

Biliary Cirrhosis Primary

Liver Cirrhosis, Biliary

Hanot'S Cirrhosis

Biliary Cirrhosis

Pericholangiolic Biliary Cirrhosis

Tannhauser-Magendantz Syndrome

Hanot-Rossle Syndrome

Hypertrophic Cirrhosis

Todd Cirrhosis

Hanot Cirrhosis

Charcot Cirrhosis

Mahon-Tannhauser Syndrome

Toxic Cirrhosis

Hypertrophic Biliary Cirrhosis

Monolobular Cirrhosis

Unilobar Cirrhosis

Xanthomatous Biliary Cirrhosis

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

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
Canis familiaris CD1D VGNC VGNC:53116
Macaca mulatta CD1D VGNC VGNC:70757
Rattus norvegicus CD1D RGD RGD:2296
Mus musculus CD1D NCBI
Others CD1D NCBI