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Aliases for FAT1 Gene

Aliases for FAT1 Gene

  • FAT Atypical Cadherin 1 2 3 5
  • Cadherin-Related Tumor Suppressor Homolog 3 4
  • Cadherin-Related Family Member 8 2 3
  • Cadherin Family Member 7 3 4
  • Protein Fat Homolog 3 4
  • CDHF7 3 4
  • FAT 3 4
  • FAT Tumor Suppressor Homolog 1 (Drosophila) 2
  • FAT Tumor Suppressor (Drosophila) Homolog 2
  • FAT Tumor Suppressor 1 3
  • Protocadherin Fat 1 3
  • Cadherin ME5 3
  • CDHR8 3
  • HFat1 3
  • ME5 3

External Ids for FAT1 Gene

Previous HGNC Symbols for FAT1 Gene

  • FAT

Previous GeneCards Identifiers for FAT1 Gene

  • GC04M187746
  • GC04M187508
  • GC04M183256

Summaries for FAT1 Gene

Entrez Gene Summary for FAT1 Gene

  • 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]

GeneCards Summary for FAT1 Gene

FAT1 (FAT Atypical Cadherin 1) is a Protein Coding gene. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is FAT3.

UniProtKB/Swiss-Prot for FAT1 Gene

  • Plays an essential role for cellular polarization, directed cell migration and modulating cell-cell contact.

Gene Wiki entry for FAT1 Gene

Additional gene information for FAT1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAT1 Gene

Genomics for FAT1 Gene

GeneHancer (GH) Regulatory Elements for FAT1 Gene

Promoters and enhancers for FAT1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J186722 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 662 +0.5 546 8.4 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 CBX5 ZNF143 FAT1 GC04M186621
GH04J186889 Promoter/Enhancer 1.4 EPDnew FANTOM5 650.1 -162.3 -162318 0.2 HDAC1 PKNOX1 ATF1 TAF9B RB1 NFXL1 ZBTB40 E2F8 EGR1 ARID2 ENSG00000250829 FAT1 LOC102723906
GH04J186595 Promoter/Enhancer 0.7 EPDnew dbSUPER 650.1 +131.1 131145 0.1 FAT1 GC04M186588 GC04M186621
GH04J186697 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.7 +26.7 26709 6.2 ELF3 FOXA2 ARID4B RAD21 DNMT3B ZNF48 RARA SCRT2 THAP11 MIXL1 FAT1 GC04M186621
GH04J186734 Enhancer 1 ENCODE dbSUPER 8.4 -9.0 -8952 2.3 FOXA2 RAD21 ETS1 ZNF366 SCRT2 ATF7 FOS CREM KLF13 ZNF362 FAT1 LOC102723906
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAT1 gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • ATF
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3

Genomic Locations for FAT1 Gene

Genomic Locations for FAT1 Gene
139,133 bases
Minus strand
138,940 bases
Minus strand

Genomic View for FAT1 Gene

Genes around FAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAT1 Gene

Proteins for FAT1 Gene

  • Protein details for FAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protocadherin Fat 1
    Protein Accession:

    Protein attributes for FAT1 Gene

    4588 amino acids
    Molecular mass:
    506273 Da
    Quaternary structure:
    • Interacts (via the C-terminus 4300-4400 AA) with ATN1. Interacts with RERE. Interacts (via EVH1 domains) with ENAH (By similarity). Interacts (via cytoplasmic domain) with CTNNB1 (By similarity).

neXtProt entry for FAT1 Gene

Post-translational modifications for FAT1 Gene

  • Undergoes proteolytic cleavage. The extracellular domain is cleaved off and the cytoplasmic domain (about 400 AA) shuttles to the nucleus.
  • Glycosylation at isoforms=4152, isoforms=3716, Asn3640, isoforms=3613, Asn3444, Asn3422, isoforms=3415, isoforms=3324, Asn2464, Asn2325, isoforms=1991, isoforms=1940, isoforms=1902, Asn1864, Asn1748, Asn1551, Asn1426, isoforms=1188, Asn998, Asn791, isoforms=740, Asn660, Asn333, and Asn40
  • Ubiquitination at Lys4219, Lys3992, isoforms=3841, isoforms=3736, Lys2600, isoforms=1568, isoforms=686, and Lys637
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FAT1 Gene

Domains & Families for FAT1 Gene

Gene Families for FAT1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for FAT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • A PTB-like motif (DNXYH sequence) is required for the targeting to the leading edge. This motif represents a minimal protein-protein interaction core motif that is not regulated by tyrosine phosphorylation (By similarity).
  • A PTB-like motif (DNXYH sequence) is required for the targeting to the leading edge. This motif represents a minimal protein-protein interaction core motif that is not regulated by tyrosine phosphorylation (By similarity).
genes like me logo Genes that share domains with FAT1: view

Function for FAT1 Gene

Molecular function for FAT1 Gene

UniProtKB/Swiss-Prot Function:
Plays an essential role for cellular polarization, directed cell migration and modulating cell-cell contact.
GENATLAS Biochemistry:
Drosophila tumor suppressor fat homolog,expressed in many epithelial and some endothelial cells,putative adhesion molecule,cadherin superfamilily

Phenotypes From GWAS Catalog for FAT1 Gene

Gene Ontology (GO) - Molecular Function for FAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 16979624
genes like me logo Genes that share ontologies with FAT1: view
genes like me logo Genes that share phenotypes with FAT1: view

Animal Models for FAT1 Gene

MGI Knock Outs for FAT1:

Animal Model Products

CRISPR Products

miRNA for FAT1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAT1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAT1 Gene

Localization for FAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAT1 Gene

Cell membrane; Single-pass type I membrane protein. Nucleus. Cytoplasm, perinuclear region.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAT1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
peroxisome 2
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for FAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 15922730
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IDA,IEA 15922730
GO:0005887 integral component of plasma membrane TAS 8586420
GO:0005911 cell-cell junction IDA 15148305
genes like me logo Genes that share ontologies with FAT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FAT1 Gene

Pathways & Interactions for FAT1 Gene

genes like me logo Genes that share pathways with FAT1: view

Pathways by source for FAT1 Gene

1 BioSystems pathway for FAT1 Gene

Gene Ontology (GO) - Biological Process for FAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007015 actin filament organization ISS,IEA --
GO:0007155 cell adhesion TAS,IEA 8586420
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007163 establishment or maintenance of cell polarity IEA,ISS --
GO:0007267 cell-cell signaling TAS 8586420
genes like me logo Genes that share ontologies with FAT1: view

No data available for SIGNOR curated interactions for FAT1 Gene

Drugs & Compounds for FAT1 Gene

No Compound Related Data Available

Transcripts for FAT1 Gene

mRNA/cDNA for FAT1 Gene

Unigene Clusters for FAT1 Gene

FAT tumor suppressor homolog 1 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAT1

Alternative Splicing Database (ASD) splice patterns (SP) for FAT1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20a · 20b ^
SP6: -

ExUns: 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b
SP8: - -
SP9: -
SP10: -

Relevant External Links for FAT1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAT1 Gene

This gene is overexpressed in Monocytes (37.4), Platelet (9.8), and Esophagus (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FAT1 Gene:


SOURCE GeneReport for Unigene cluster for FAT1 Gene:


mRNA Expression by UniProt/SwissProt for FAT1 Gene:

Tissue specificity: Expressed in many epithelial and some endothelial and smooth muscle cells.

Evidence on tissue expression from TISSUES for FAT1 Gene

  • Blood(4.5)
  • Liver(4.5)
  • Nervous system(3.4)
  • Intestine(3.3)
  • Lung(2.5)
  • Kidney(2.4)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with FAT1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAT1 Gene

Orthologs for FAT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FAT1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAT1 34 33
  • 99 (n)
(Canis familiaris)
Mammalia FAT1 34 33
  • 86.94 (n)
(Bos Taurus)
Mammalia FAT1 34 33
  • 84.18 (n)
(Monodelphis domestica)
Mammalia FAT1 34
  • 84 (a)
(Rattus norvegicus)
Mammalia Fat1 33
  • 82.93 (n)
(Mus musculus)
Mammalia Fat1 16 34 33
  • 82.53 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 64 (a)
-- 34
  • 59 (a)
(Gallus gallus)
Aves FAT1 34 33
  • 76.35 (n)
(Anolis carolinensis)
Reptilia FAT1 34
  • 78 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fat1 33
  • 70.31 (n)
Str.11926 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.9028 33
(Danio rerio)
Actinopterygii fat1a 34
  • 65 (a)
fat1 33
  • 60.39 (n)
FAT1 (2 of 2) 34
  • 55 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011526 33
  • 48.58 (n)
fruit fly
(Drosophila melanogaster)
Insecta kug 34 33
  • 48.01 (n)
(Caenorhabditis elegans)
Secernentea cdh-4 33
  • 44.39 (n)
Species where no ortholog for FAT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FAT1 Gene

Gene Tree for FAT1 (if available)
Gene Tree for FAT1 (if available)
Evolutionary constrained regions (ECRs) for FAT1: view image

Paralogs for FAT1 Gene

Paralogs for FAT1 Gene

(12) SIMAP similar genes for FAT1 Gene using alignment to 7 proteins:

  • H0Y8F5_HUMAN
  • H0Y9C8_HUMAN
  • H0Y9H4_HUMAN
  • L8E7S1_HUMAN Pseudogenes for FAT1 Gene

genes like me logo Genes that share paralogs with FAT1: view

Variants for FAT1 Gene

Sequence variations from dbSNP and Humsavar for FAT1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs200828005 likely-benign, Anophthalmia - microphthalmia, Peters anomaly 186,628,751(-) C/T coding_sequence_variant, missense_variant
rs201450896 likely-benign, not provided 186,707,187(-) G/A coding_sequence_variant, missense_variant
rs778221022 likely-benign, not provided 186,706,992(-) T/C coding_sequence_variant, missense_variant
rs180820128 uncertain-significance, not provided 186,707,265(-) C/T coding_sequence_variant, missense_variant
rs1000003270 -- 186,688,408(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAT1 Gene

Variant ID Type Subtype PubMed ID
dgv2976n106 CNV deletion 24896259
dgv5494n100 CNV gain 25217958
dgv5495n100 CNV gain 25217958
dgv863e201 CNV deletion 23290073
dgv917n67 CNV gain 20364138
esv2659002 CNV deletion 23128226
esv2664653 CNV deletion 23128226
esv2664697 CNV deletion 23128226
esv2670303 CNV deletion 23128226
esv2728950 CNV deletion 23290073
esv2728952 CNV deletion 23290073
esv2728953 CNV deletion 23290073
esv2728954 CNV deletion 23290073
esv2728955 CNV deletion 23290073
esv2728956 CNV deletion 23290073
esv2728957 CNV deletion 23290073
esv2728958 CNV deletion 23290073
esv2728959 CNV deletion 23290073
esv2728960 CNV deletion 23290073
esv3565207 CNV deletion 23714750
esv3565209 CNV deletion 23714750
esv3603538 CNV loss 21293372
esv3603540 CNV loss 21293372
nsv1015619 CNV gain 25217958
nsv1022361 CNV gain 25217958
nsv1025244 CNV gain 25217958
nsv1073401 CNV deletion 25765185
nsv1111286 CNV tandem duplication 24896259
nsv1126153 CNV deletion 24896259
nsv1128121 CNV deletion 24896259
nsv1135947 CNV deletion 24896259
nsv290499 CNV deletion 16902084
nsv291790 CNV deletion 16902084
nsv525719 CNV gain 19592680
nsv596417 CNV gain 21841781
nsv596440 CNV gain 21841781
nsv822894 CNV gain 20364138
nsv958223 CNV deletion 24416366

Variation tolerance for FAT1 Gene

Residual Variation Intolerance Score: 99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 24.11; 99.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAT1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAT1 Gene

Disorders for FAT1 Gene

Additional Disease Information for FAT1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for FAT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAT1 Gene

Publications for FAT1 Gene

  1. Molecular cloning and tissue expression of FAT, the human homologue of the Drosophila fat gene that is located on chromosome 4q34-q35 and encodes a putative adhesion molecule. (PMID: 8586420) Dunne J … Owen MJ (Genomics 1995) 2 3 4 22 58
  2. Processing of the human protocadherin Fat1 and translocation of its cytoplasmic domain to the nucleus. (PMID: 15922730) Magg T … Hofer HW (Experimental cell research 2005) 3 4 22 58
  3. A genome-wide association study on obesity and obesity-related traits. (PMID: 21552555) Wang K … Price RA (PloS one 2011) 3 44 58
  4. No influence of FAT polymorphisms in response to aripiprazole. (PMID: 19893579) Pae CU … Serretti A (Journal of human genetics 2010) 3 44 58
  5. Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population. (PMID: 19328558) Yosifova A … Nakamura Y (Journal of affective disorders 2009) 3 44 58

Products for FAT1 Gene

Sources for FAT1 Gene

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