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  2. CLDN1 - claudin 1 Gene

CLDN1 - claudin 1 Gene

中文名称:密蛋白 1

种属: Homo sapiens

同用名: CLD1; SEMP1; ILVASC

基因 ID: 9076 | 基因类型: protein coding

关于 CLDN1

Cytogenetic location: 3q28 Genomic coordinates (GRCh38): 3:190,305,707-190,322,446 (from NCBI)

This gene has 2 transcripts (splice variants), 245 orthologues, 22 paralogues and is associated with 3 phenotypes. Biased expression in skin (RPKM 138.8), liver (RPKM 107.2) and 6 other tissues.

功能概要

紧密连接代表上皮或内皮细胞片中细胞间粘附的一种模式,在细胞周围形成连续密封,并作为物理屏障防止溶质和水自由通过细胞旁空间。这些连接由面向外的细胞质小叶中的多组连续网络链组成,在面向内的胞质外小叶中具有互补的凹槽。由该基因编码的蛋白质是密蛋白家族的一员,是一种完整的膜蛋白,是紧密连接链的一个组成部分。功能缺失突变导致新生儿鱼鳞病-硬化性胆管炎综合征。[RefSeq 提供,2008 年 7 月]

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. Loss of function mutations result in neonatal ichthyosis-sclerosing cholangitis syndrome. [provided by RefSeq, Jul 2008]

CLDN1 基因产物(1)

mRNA Protein Name
NM_021101.5 NP_066924.1 claudin-1

CLDN1 蛋白结构

PMP22_Claudin

PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (5 - 182)

  • 0
  • 100
  • 211 a.a.
蛋白主名 其他名称

claudin-1

senescence-associated epithelial membrane protein 1

关联疾病

疾病名称 别名
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis

Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome

Nisch Syndrome

ILVASC

Ichthyosis-Sclerosing Cholangitis Syndrome

Ihsc

Ichthyosis-Hypotrichosis-Sclerosing Cholangitis Syndrome

Ichthyosis-Sclerosing Cholangitis Neonatal Syndrome

NISCH

Ichthyosis With Leukocyte Vacuoles, Alopecia And Sclerosing Cholangitis

Sclerosing Cholangitis

Fibrosing Cholangitis

Cholangitis, Sclerosing

Primary Sclerosing Cholangitis

Cholangitis

Acute Cholangiolitis

Ascending Cholangitis

Cholangiolitis

Cholangitis Nos

Chronic Cholangiolitis

Hepatic Duct Inflammation

Acute Cholangitis

Bile Duct Inflammation

Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis

Alopecia
Adenocarcinoma In Situ
Sclerosing Cholangitis, Neonatal

NSC

Perineurioma

Soft Tissue Perineurioma

Hepatitis C Virus

Hepatitis C Virus, Susceptibility To

Hepatitis C Virus Infection, Response To Therapy Of

Hcv

Hcv, Susceptibility To

Hepatitis C Virus, Resistance To

Hepatitis C Virus, Response To Therapy Of

Resistance To Hepatitis C Virus

Dengue Virus

Dengue Virus, Susceptibility To

Dengue Fever, Protection Against

Dengue Fever

Meckel Diverticulum

Meckel'S Diverticulum

Persistent Vitelline Duct

Prostate Transitional Cell Carcinoma

Transitional Cell Carcinoma Of Prostate

Primary Prostate Urothelial Carcinoma

Hypotrichosis
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Barth Syndrome

3-Methylglutaconic Aciduria Type 2

BTHS

Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

Mga Type Ii

Mga2

Mgca2

Mga Type 2

3-Methylglutaconic Aciduria Type Ii

3-Methylglutaconic Aciduria, Type Ii

Mga, Type Ii

3-Methylglutaconicaciduria Type 2

3-Methylglutaconicaciduria Type Ii

Taz Defect

3 Methylglutaconic Aciduria, Type Ii

Dnajc19 Defect

Cardioskeletal Myopathy-Neutropenia Syndrome

X-Linked Cardioskeletal Myopathy And Neutropenia

3-Alpha-Methylglutaconic Aciduria Type 2

Agm2

Cardioskeletal Myopathy-Neutropenia

Invm

Left Ventricular Non-Compaction Isolated X-Linked

Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

Agammaglobulinemia 2, Autosomal Recessive

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

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
Bos taurus CLDN1 VGNC VGNC:27402
Canis familiaris CLDN1 VGNC VGNC:39308
Macaca mulatta CLDN1 VGNC VGNC:71242
Felis catus CLDN1 VGNC VGNC:102670
Rattus norvegicus CLDN1 RGD RGD:68422
Mus musculus CLDN1 MGD MGI:1276109
Macaca fascicularis CLDN1 NCBI NCBI:102136275
Others CLDN1 NCBI