FAT1 - FAT atypical cadherin 1 Gene

Also Known as FAT; ME5; CDHF7; CDHR8; hFat1

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 2195

About 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.

Summary

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 Products (1)

mRNA	Protein	Name
NM_005245.4	NP_005236.2	protocadherin Fat 1 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	16979624	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in cell-cell junction	IDA IDA: Inferred from direct assay	15148305	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15922730	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	15922730	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	15922730	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FAT1 Protein Structure

Cadherin

Laminin_G_2

EGF

EGF_CA

0
800
1600
2400
3200
4000
4588 a.a.

Protein Preferred Names	Protein Names
protocadherin Fat 1	FAT tumor suppressor 1

FAT1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	FAT1	Q14517	ENAH	Homo sapiens	Q8N8S7	ELISA	16979624
Cross	FAT1	Q14517	Homer3	Mus musculus	Q99JP6	Pull Down	16979624
Intra	FAT1	Q14517	HOMER3	Homo sapiens	Q9NSC5	ELISA	16979624

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (14)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-115319	CP-24879 hydrochloride		99.59%	Unkown
HY-113422	Tetrahydrocorticosterone		99.90%	Unkown
HY-124141	Myristelaidic acid		99.80%	Unkown
HY-W160407	9-Decenoic acid		98.56%	Unkown
HY-135297	Mono-and diglycerides		97.50%	Unkown
HY-113422S2	Tetrahydrocorticosterone-d3-1		/	Unkown
HY-B1567	Bromocyclen		/	Unkown
HY-RS04760	FAT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-Y0781S6	Pyruvic acid-13C-4		/	Unkown
HY-116846	Methyldymron		/	Unkown
HY-166088	Myristelaidic acid sodium		/	Unkown
HY-168386	1,2-Dipalmitoyl-3-Myristoyl-rac-glycerol		99.29%	Unkown
HY-RS18131	Fat1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24605	Fat1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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