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  2. CD1C - CD1c molecule Gene

CD1C - CD1c molecule Gene

中文名称:CD1c 分子

种属: Homo sapiens

同用名: R7; CD1; CD1A; BDCA1

基因 ID: 911 | 基因类型: protein coding

关于 CD1C

Cytogenetic location: 1q23.1 Genomic coordinates (GRCh38): 1:158,289,923-158,294,774 (from NCBI)

This gene has 2 transcripts (splice variants), 381 orthologues and 22 paralogues. Broad expression in lymph node (RPKM 8.6), appendix (RPKM 6.9) and 15 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通过细胞质尾部的酪氨酸基序广泛分布于整个内吞系统。已观察到该基因的选择性剪接转录变体,但其全长性质尚不清楚。[RefSeq 提供,2008 年 7 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 is broadly distributed throughout the endocytic system via a tyrosine-based motif in the cytoplasmic tail. Alternatively spliced transcript variants of this gene have been observed, but their full-length nature is not known. [provided by RefSeq, Jul 2008]

CD1C 基因产物(1)

mRNA Protein Name
NM_001765.3 NP_001756.2 T-cell surface glycoprotein CD1c precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables endogenous lipid antigen binding IDA
IDA: 通过直接分析推断
21167756 GOA
enables exogenous lipid antigen binding IDA
IDA: 通过直接分析推断
21167756 GOA
enables glycolipid binding IDA
IDA: 通过直接分析推断
21167756 GOA
enables lipopeptide binding IDA
IDA: 通过直接分析推断
21167756 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in T cell activation involved in immune response IDA
IDA: 通过直接分析推断
21167756 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

CD1C 蛋白结构

C1-set

C1-set: Immunoglobulin C1-set domain (218 - 288)

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

T-cell surface glycoprotein CD1c

CD1C antigen, c polypeptide

关联疾病

疾病名称 别名
Histiocytosis

Chronic Histiocytosis X

Hand Schuller Christian Disease

Hand-Schüller-Christian Disease

Histiocytic Syndrome

Histiocytosis, Langerhans-Cell

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

Disease By Infectious Agent

Infectious Disease

Infectious Diseases

Langerhans Cell Sarcoma

Malignant Langerhans Cell Sarcoma

Histiocytic And Dendritic Cell Cancer

Histiocytic And Dendritic Cell

Adult Xanthogranuloma
Rhinoscleroma
Interdigitating Dendritic Cell Sarcoma

Interdigitating Cell Sarcoma

Dendritic Cell Sarcoma, Interdigitating

Reticulum Cell Sarcoma

Juvenile Xanthogranuloma

Multiple Eruptive Juvenile Xanthogranuloma

Naevoxanthoendothelioma

Xanthoma Neviforme

Xanthogranuloma, Juvenile

Reticulohistiocytic Granuloma

Reticulohistiocytoma

Solitary Reticulohistiocytoma

Solitary Histiocytoma

Solitary Reticulohistiocytosis

Cardiomyopathy, Dilated, 1c, With Or Without Left Ventricular Noncompaction

Left Ventricular Noncompaction 3

Dilated Cardiomyopathy 1c

CMD1C

Cardiomyopathy, Hypertrophic, 24

Dilated Cardiomyopathy With Left Ventricular Noncompaction

Cardiomyopathy, Dilated, 1c, With Or Without Lvnc

Cmdc1

Dilated Cardiomyopathy 1c With Or Without Left Ventricular Noncompaction

Cardiomyopathy, Dilated 1c, With Or Without Left Ventricular Non-Compaction

Cardiomyopathy Dilated With Left Ventricular Noncompaction

Cardiomyopathy, Familial Hypertrophic 24

CMH24

Left Ventricular Non-Compaction 3

LVNC3

Cardiomyopathy, Dilated 1c

Familial Hypertrophic Cardiomyopathy 24

Cardiomyopathy, Dilated, 1c

Multicentric Reticulohistiocytosis

Lipoid Dermatoarthritis

Giant Cell Histiocytomatosis

Erdheim-Chester Disease

Ecd

Erdheim Chester Disease

Lipoid Granulomatosis

Lipid Granulomatosis

Polyostotic Sclerosing Histiocytosis

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

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

Granuloma Annulare

Granulome Annulare

Ga - [Granuloma Annulare]

Mycosis Fungoides

Mycosis Fungoides Lymphoma

Alibert-Bazin Syndrome

Granuloma Fungoides

Classic Mycosis Fungoides

Mycosis Fungoides, Alibert-Bazin Type

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

Cobblestone Retinal Degeneration

Paving Stone Retinal Degeneration

Paving Stone Degeneration Of Retina

Spongiotic Dermatitis
Polyclonal Hypergammaglobulinemia

Polyclonal Gammopathy

Lymphoid Interstitial Pneumonia

Lymphocytic Interstitial Pneumonia

Lip Disease

Lip Diseases

LIP

Disease Of Lips

Granulomatous Dermatitis
Histiocytic Sarcoma

Malignant Histiocytosis

Exophthalmos

Proptosis

Seborrheic Dermatitis

Seborrhoeic Dermatitis

Seborrhea

Seborrhoeic Eczema

Skin Seborrheic

Dermatitis, Seborrheic

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

Orbital Disease

Orbit

Orbital Diseases

Malignant Histiocytic Disease

Histiocytic Disorders, Malignant

Dendritic Cell Thymoma

Epithelioid Thymoma

Type B Thymoma

Large Cell Acanthoma
Frontal Sinus Benign Neoplasm

Neoplasm Of Frontal Sinus

Tumor Of The Frontal Sinus

Lichen Disease
Otorrhea

Discharging Ear

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

Cervical Adenoid Cystic Carcinoma

Adenoid Cystic Carcinoma Of The Cervix Uteri

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

Balloon Cell Malignant Melanoma
Diencephalic Astrocytoma

Astrocytoma Of Diencephalon

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

Mycobacterium Tuberculosis 1

Tuberculosis

Tuberculoma

Tuberculosis, Susceptibility To

Mycobacterium Tuberculosis, Susceptibility To, 1

Mtbs1

TB

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

Vulvar Proximal-Type Epithelioid Sarcoma
Central Epithelioid Sarcoma

Proximal-Type Epithelioid Sarcoma

Hypersensitivity Reaction Type Iv Disease

Immunoproliferative Disorders

Immunoproliferative Disease

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

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 mulatta CD1C NCBI NCBI:717148