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FAT1 Gene(Protein Coding)

FAT Atypical Cadherin 1

GCID:
GC04M186587
GIFtS:
54
Genes Participants
UDN Logo

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. Diseases associated with FAT1 include Dentin Caries. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS. 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

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

Genomics for FAT1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for FAT1 Gene

Enhancers for FAT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G186722 1.7 FANTOM5 ENCODE dbSUPER 12 +0.5 546 8.4 HNRNPUL1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 CBX5 FAT1 GC04M186621
GH04G186697 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.7 +26.7 26710 6.2 ELF3 FOXA2 ARID4B RAD21 DNMT3B ZNF48 RARA SCRT2 MIXL1 THAP11 FAT1 GC04M186621
GH04G186734 1.1 ENCODE dbSUPER 8.4 -9.0 -8952 2.3 SOX13 DRAP1 FOXA2 SAP130 JUN ZNF384 RAD21 ZNF7 TEAD3 HIC1 FAT1 LOC102723906
GH04G186682 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.2 +40.6 40619 7.3 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF2 GATA2 FOS SP5 FAT1 GC04M186621
GH04G186738 1 ENCODE dbSUPER 6.3 -13.1 -13083 2.0 TAL1 ZNF140 ZNF426 ZNF394 MNT ZNF781 ZNF518A ZNF697 TCF12 ARID1B FAT1 LOC102723906
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAT1 on UCSC Golden Path with GeneCards custom track

Promoters for FAT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000177181 1815 5001 HNRNPUL1 ARNT ZFP64 ARID4B SIN3A YY1 CBX5 ZNF143 FOS SP3

Transcription factor binding sites by QIAGEN in the FAT1 gene promoter:

Genomic Location for FAT1 Gene

Chromosome:
4
Start:
186,587,783 bp from pter
End:
186,726,915 bp from pter
Size:
139,133 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for FAT1 Gene

Proteins for FAT1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    Q14517-FAT1_HUMAN
    Recommended name:
    Protocadherin Fat 1
    Protein Accession:
    Q14517

    Protein attributes for FAT1 Gene

    Size:
    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

Protein Expression for FAT1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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.
  • Ubiquitination at Lys637, Lys686, Lys1568, isoforms=2600, isoforms=3736, Lys3841, Lys3992, and Lys4219
  • Glycosylation at isoforms=40, isoforms=333, isoforms=660, Asn740, Asn791, Asn998, isoforms=1188, isoforms=1426, Asn1551, Asn1748, isoforms=1864, isoforms=1902, Asn1940, isoforms=1991, isoforms=2325, Asn2464, Asn3324, Asn3415, isoforms=3422, isoforms=3444, Asn3613, Asn3640, isoforms=3716, and isoforms=4152
  • Modification sites at PhosphoSitePlus

Other Protein References for FAT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAT1 Gene

Domains & Families for FAT1 Gene

Gene Families for FAT1 Gene

HGNC:

Protein Domains for FAT1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FAT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14517

UniProtKB/Swiss-Prot:

FAT1_HUMAN :
  • 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).
Domain:
  • 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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for FAT1 Gene

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

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

miRTarBase miRNAs that target FAT1

Inhibitory RNA Products

Flow Cytometry Products

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

COMPARTMENTS
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
mitochondrion 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

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 IEA,ISS --
GO:0007155 cell adhesion IEA,TAS 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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for FAT1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for FAT1 Gene

(4) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(293) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FAT1 Gene

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

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - -
SP9: -
SP10: -
SP11:

Relevant External Links for FAT1 Gene

GeneLoc Exon Structure for
FAT1
ECgene alternative splicing isoforms for
FAT1

Expression for FAT1 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for FAT1 Gene
mRNA expression by BioGPS for FAT1 GenemRNA expression by GTEx 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, PaxDb, MaxQB, and MOPED for FAT1 Gene



NURSA nuclear receptor signaling pathways regulating expression of FAT1 Gene:

FAT1

SOURCE GeneReport for Unigene cluster for FAT1 Gene:

Hs.481371

mRNA Expression by UniProt/SwissProt for FAT1 Gene:

Q14517-FAT1_HUMAN
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(2.6)
  • Kidney(2.4)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with FAT1: view

Primer Products

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
chimpanzee
(Pan troglodytes)
 Mammalia FAT1 34 35
  • 99 (n)
dog
(Canis familiaris)
 Mammalia FAT1 34 35
  • 86.94 (n)
cow
(Bos Taurus)
 Mammalia FAT1 34 35
  • 84.18 (n)
oppossum
(Monodelphis domestica)
 Mammalia FAT1 35
  • 84 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Fat1 34
  • 82.93 (n)
mouse
(Mus musculus)
 Mammalia Fat1 34 16 35
  • 82.53 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 64 (a)
 OneToMany
-- 35
  • 59 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves FAT1 34 35
  • 76.35 (n)
lizard
(Anolis carolinensis)
 Reptilia FAT1 35
  • 78 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia fat1 34
  • 70.31 (n)
Str.11926 34
African clawed frog
(Xenopus laevis)
 Amphibia Xl.9028 34
zebrafish
(Danio rerio)
 Actinopterygii fat1a 35
  • 65 (a)
 OneToMany
fat1 34
  • 60.39 (n)
FAT1 (2 of 2) 35
  • 55 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011526 34
  • 48.58 (n)
fruit fly
(Drosophila melanogaster)
 Insecta kug 34 35
  • 48.01 (n)
worm
(Caenorhabditis elegans)
 Secernentea cdh-4 34
  • 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

ENSEMBL:
Gene Tree for FAT1 (if available)
TreeFam:
Gene Tree for FAT1 (if available)

Paralogs for FAT1 Gene

Paralogs for FAT1 Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
rs200828005 Likely benign 186,628,751(+) TATTA(C/T)TTTGA upstream-variant-2KB, reference, missense
rs200613891 Uncertain significance 186,621,599(+) AGAGG(A/C/T)GTTGT downstream-variant-500B, reference, missense
rs1000003270 -- 186,688,408(+) GTTCA(C/T)AAGGT intron-variant
rs1000007580 -- 186,724,267(+) TTCTG(A/G)GAGCC intron-variant, upstream-variant-2KB
rs1000010747 -- 186,589,455(+) TGTAC(A/G)CAACT 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)

Relevant External Links for FAT1 Gene

Human Gene Mutation Database (HGMD)
FAT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAT1

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

Disorders for FAT1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAT1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dentin caries
  • compound dental caries
- elite association - COSMIC cancer census association via MalaCards
Search FAT1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FAT1

Genetic Association Database (GAD)
FAT1
Human Genome Epidemiology (HuGE) Navigator
FAT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAT1
genes like me logo Genes that share disorders with FAT1: view

No data available for 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 M.J. (Genomics 1995) 2 3 4 22 64
  2. Processing of the human protocadherin Fat1 and translocation of its cytoplasmic domain to the nucleus. (PMID: 15922730) Magg T. … Hofer H.W. (Exp. Cell Res. 2005) 3 4 22 64
  3. A genome-wide association study on obesity and obesity-related traits. (PMID: 21552555) Wang K. … Price R.A. (PLoS ONE 2011) 3 46 64
  4. No influence of FAT polymorphisms in response to aripiprazole. (PMID: 19893579) Pae C.U. … Serretti A. (J. Hum. Genet. 2010) 3 46 64
  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. (J Affect Disord 2009) 3 46 64

Products for FAT1 Gene

Sources for FAT1 Gene

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