FAT1 - FAT atypical cadherin 1 Gene

Homo sapiens

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

Gene ID: 2195 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16979624	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
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

Related Diseases

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

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-115319	CP-24879 hydrochloride		98.00%	Unkown
HY-124141	Myristelaidic acid		≥98.0%	Unkown
HY-135297	Mono-and diglycerides		97.50%	Unkown
HY-B1567	Bromocyclen		/	Unkown
HY-RS04760	FAT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-W753983	Pyruvic acid-13C3		/	Unkown

Orthologs Information

Species	Symbol	Source	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

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