1. Gene
  2. FAT1 - FAT atypical cadherin 1 Gene

FAT1 - FAT atypical cadherin 1 Gene

中文名称:FAT 非典型钙粘蛋白 1

种属: Homo sapiens

同用名: FAT; ME5; CDHF7; CDHR8; hFat1

基因 ID: 2195 | 基因类型: protein coding

关于 FAT1

Cytogenetic location: 4q35.2 Genomic coordinates (GRCh38): 4:186,587,794-186,726,696 (from NCBI)

This gene has 11 transcripts (splice variants), 241 orthologues, 6 paralogues and is associated with 162 phenotypes. Broad expression in colon (RPKM 17.7), kidney (RPKM 13.3) and 21 other tissues.

功能概要

该基因是果蝇脂肪基因的直向同源基因,该基因编码的肿瘤抑制因子对于控制果蝇发育过程中的细胞增殖至关重要。该基因产物是钙粘蛋白超家族的成员,钙粘蛋白超家族是一组完整的膜蛋白,其特征在于存在钙粘蛋白型重复序列。除了含有 34 个串联钙粘蛋白型重复序列外,该基因产物还有 5 个表皮生长因子 (EGF) 样重复序列和 1 个层粘连蛋白 AG 结构域。该基因在许多胎儿上皮细胞中以高水平表达。其产物可能作为粘附分子和/或信号受体发挥作用,并且可能在发育过程和细胞通讯中起重要作用。存在源自替代剪接和/或替代启动子使用的转录变体,但尚未对其进行充分描述。[RefSeq 提供,2008 年 7 月]

This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq, Jul 2008]

FAT1 基因产物(1)

mRNA Protein Name
NM_005245.4 NP_005236.2 protocadherin Fat 1 precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
16979624 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell-cell junction IDA
IDA: 通过直接分析推断
15148305 GOA
located in nucleus IDA
IDA: 通过直接分析推断
15922730 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
15922730 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
15922730 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

FAT1 蛋白结构

Cadherin

Cadherin: Cadherin domain (154 - 247)

Cadherin

Cadherin: Cadherin domain (468 - 558)

Cadherin

Cadherin: Cadherin domain (724 - 809)

Cadherin

Cadherin: Cadherin domain (827 - 917)

Cadherin

Cadherin: Cadherin domain (932 - 1022)

Cadherin

Cadherin: Cadherin domain (1041 - 1130)

Cadherin

Cadherin: Cadherin domain (1147 - 1236)

Cadherin

Cadherin: Cadherin domain (1266 - 1344)

Cadherin

Cadherin: Cadherin domain (1387 - 1440)

Cadherin

Cadherin: Cadherin domain (1461 - 1552)

Cadherin

Cadherin: Cadherin domain (1567 - 1658)

Cadherin

Cadherin: Cadherin domain (1672 - 1755)

Cadherin

Cadherin: Cadherin domain (1790 - 1867)

Cadherin

Cadherin: Cadherin domain (1895 - 1969)

Cadherin

Cadherin: Cadherin domain (1984 - 2071)

Cadherin

Cadherin: Cadherin domain (2093 - 2174)

Cadherin

Cadherin: Cadherin domain (2187 - 2265)

Cadherin

Cadherin: Cadherin domain (2288 - 2381)

Cadherin

Cadherin: Cadherin domain (2395 - 2482)

Cadherin

Cadherin: Cadherin domain (2497 - 2585)

Cadherin

Cadherin: Cadherin domain (2601 - 2694)

Cadherin

Cadherin: Cadherin domain (2708 - 2799)

Cadherin

Cadherin: Cadherin domain (2814 - 2909)

Cadherin

Cadherin: Cadherin domain (2923 - 3013)

Cadherin

Cadherin: Cadherin domain (3031 - 3112)

Cadherin

Cadherin: Cadherin domain (3130 - 3221)

Cadherin

Cadherin: Cadherin domain (3236 - 3326)

Cadherin

Cadherin: Cadherin domain (3340 - 3430)

Cadherin

Cadherin: Cadherin domain (3445 - 3535)

Laminin_G_2

Laminin_G_2: Laminin G domain (3859 - 3985)

EGF

EGF: EGF-like domain (4017 - 4046)

EGF

EGF: EGF-like domain (4093 - 4123)

EGF_CA

EGF_CA: Calcium-binding EGF domain (4127 - 4158)

  • 0
  • 800
  • 1600
  • 2400
  • 3200
  • 4000
  • 4588 a.a.
蛋白主名 其他名称

protocadherin Fat 1

FAT tumor suppressor 1

FAT1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
FAT1 Q14517 ENAH Homo sapiens Q8N8S7 16979624
种属间
FAT1 Q14517 Homer3 Mus musculus Q99JP6 16979624
种属内
FAT1 Q14517 HOMER3 Homo sapiens Q9NSC5 16979624
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Myasthenic Syndrome, Congenital, 12

Congenital Myasthenic Syndrome 12

CMS12

Myasthenic Syndrome, Congenital, With Tubular Aggregates 1

Cmsta1

Myasthenia, Congenital, 12, With Tubular Aggregates

Congenital Myasthenia 12 With Tubular Aggregates

Limb-Girdle Myasthenia With Tubular Aggregates

Myasthenia, Congenital, With Tubular Aggregates 1

Myasthenic Syndrome, Congenital, With Tubular Aggregates, 1

Nephrotic Syndrome, Type 1

Finnish Congenital Nephrosis

NPHS1

Cnf

Finnish Congenital Nephrotic Syndrome

Nephrotic Syndrome Type 1

Nephrosis, Congenital

Congenital Nephrotic Syndrome

Nephrotic Syndrome, Congenital

Congenital Nephrotic Syndrome Finnish Type

Congenital Nephrotic Syndrome 1

Nephrosis 1, Congenital, Finnish Type

Congenital Nephrotic Syndrome, Finnish Type

Nephrotic Syndrome 1

Congenital Nephrotic Syndrome Of The Finnish Type

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Squamous Cell Carcinoma

Epidermoid Carcinoma

Squamous Cell Cancer

Carcinoma, Squamous Cell

Squamous Cell Skin Cancer

Malignant Squamous Cell Tumor

Squamous Carcinoma

Squamous Cell Epithelioma

Carcinoma Squamous Cell

Neoplasms, Squamous Cell

Squamous Cell Carcinoma - Category

Malignant Squamous Cell Neoplasm

Squamous Cell Carcinoma Of Skin

Plasma Cell Neoplasm

Plasma Cell Dyscrasia

Paraproteinemias

Plasma Cell Tumour

Plasmacytic Tumor

Multiple Myeloma

Plasmacytoma

Plasma Cell Tumours

Plasma Cells Dyscrasia

Endocervical Adenocarcinoma

Endocervical Carcinoma

Myeloma, Multiple

Multiple Myeloma

Plasma Cell Myeloma

Kahler Disease

Myelomatosis

Medullary Plasmacytoma

Multiple Myeloma, Resistance To

Myeloma

Plasma Cell Dyscrasia

Kahler'S Disease

Multiple Myeloma, Susceptibility To

Myeloma - Multiple

Kahler-Bozzolo Disease

Plasma Cell Myelomas

MM

Plasma Cell Neoplasm

Primary Systemic Amyloidosis

Primary Amyloidosis

Immunoglobulin Deposition Disease

Plasmacytic Myeloma

Multiple Myelomata

Multiple Myeloma Nos

Multiple Myeloma Without Mention Of Remission

Monostotic Plasma Cell Myeloma

Mm - [Multiple Myeloma]

Spinocerebellar Ataxia 45

SCA45

Spinocerebellar Ataxia Type 45

Cervical Squamous Cell Carcinoma

Squamous Cell Carcinoma Of The Cervix Uteri

Squamous Cell Carcinoma Of Cervix

Gastric Fundus Cancer

Gastric Fundus Carcinoma

Ca Fundus - Stomach

Malignant Neoplasm Of Fundus Of Stomach

Malignant Tumor Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Carcinoma Of Fundus Of Stomach

Malignant Neoplasm Of Gastric Fundus

Uterine Corpus Endometrial Carcinoma
Lung Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Lung

Squamous Cell Lung Carcinoma

Epidermoid Cell Carcinoma Of The Lung

Squamous Cell Lung Cancer

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

Van Maldergem Syndrome

Van Maldergem Wetzburger Verloes Syndrome

Cerebro-Facio-Articular Syndrome

Cerebro-Facio-Articular Syndrome Of Van Maldergem

Cerebrofacioarticular Syndrome

Cerebro Facio Articular Syndrome

Van Maldergem-Wetzburger-Verloes Syndrome

Bladder Urothelial Carcinoma

Bladder Transitional Cell Carcinoma

Transitional Cell Carcinoma Of Bladder

Transitional Cell Carcinoma Of The Bladder

Urinary Bladder Urothelial Carcinoma

Urothelial Bladder Carcinoma

Carcinoma Transitional Cell Bladder

Tcc - [Transitional Cell Carcinoma] Of Bladder

Facioscapulohumeral Muscular Dystrophy 1

Facioscapulohumeral Muscular Dystrophy

Fshd

Landouzy-Dejerine Muscular Dystrophy

Muscular Dystrophy, Facioscapulohumeral

FSHD1

Fshd1a

Muscular Dystrophy, Facioscapulohumeral, Type 1a

Facioscapulohumeral Muscular Dystrophy Type 1a

Fsh Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy 1a

Facioscapulohumeral Atrophy

Facioscapulohumeral Myopathy

Muscular Dystrophy, Facioscapulohumeral, Type 1

Facioscapulohumeral Muscular Dystrophy Type 1

Landouzy Dejerine Muscular Dystrophy

Muscular Dystrophy, Landouzy-Dejerine

Fshmd1a

Facio-Scapulo-Humeral Dystrophy

Facioscapulohumeral Type Progressive Muscular Dystrophy

Facioscapuloperoneal Muscular Dystrophy

Facioscapulohumeral Dystrophy

Fsh Dystrophy

Landouzy-Dejerine Dystrophy

Landouzy-Dejerine Myopathy

Fmd

Facioscapulohumeral Muscular Dystrophy-1a

Muscular Dystrophy Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral, Type 1

Landouzy-Dejerine Disease

Landouzy-Déjerine Atrophy

Facioscapulohumeral Muscle Dystrophy

Fmd - [Facioscapulohumeral Muscular Dystrophy]

Fsh - [Facioscapulohumeral Muscular Dystrophy]

Fshd - [Facioscapulohumeral Muscular Dystrophy]

Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy

Landouzy-Déjérine Muscular Dystrophy

Spinocerebellar Ataxia, Autosomal Recessive 17

Autosomal Recessive Spinocerebellar Ataxia 17

SCAR17

Autosomal Recessive Cerebellar Ataxia Due To Cwf19l1 Deficiency

Spinocerebellar Ataxia Autosomal Recessive Type 17

Spinocerebellar Ataxia, Autosomal Recessive, 17

Ataxia, Spinocerebellar, Autosomal Recessive, Type 17

Anus Basaloid Carcinoma

Basaloid Carcinoma Of The Anus

Anal Basaloid Carcinoma

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
Mus musculus FAT1 MGD MGI:109168
Canis familiaris FAT1 VGNC VGNC:40742
Felis catus FAT1 VGNC VGNC:62157
Rattus norvegicus FAT1 RGD RGD:621254
Bos taurus FAT1 VGNC VGNC:52771
Macaca mulatta FAT1 VGNC VGNC:72617
Others FAT1 NCBI