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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 Homolog 1 3
  • FAT Tumor Suppressor 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 and precursor b-cell acute lymphoblastic leukemia. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is FAT4.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAT1 Gene

Genomics for FAT1 Gene

Regulatory Elements for FAT1 Gene

Enhancers for FAT1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around FAT1 on UCSC Golden Path with GeneCards custom track

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 StructureGene Density

RefSeq DNA sequence for FAT1 Gene

Proteins for FAT1 Gene

  • 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

Proteomics data for FAT1 Gene at MOPED

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 Lys 637, Lys 686, Lys 1568, Lys 2600, Lys 3736, Lys 3841, Lys 3992, and Lys 4219
  • Glycosylation at Asn 40, Asn 333, Asn 660, Asn 740, Asn 791, Asn 998, Ser 1188, Asn 1426, Asn 1551, Asn 1748, Asn 1864, Asn 1902, Asn 1940, Asn 1991, Asn 2325, Asn 2464, Asn 3324, Asn 3415, Asn 3422, Asn 3444, Asn 3613, Asn 3640, Asn 3716, and Asn 4152
  • Modification sites at PhosphoSitePlus

Other Protein References for FAT1 Gene

No data available for DME Specific Peptides for FAT1 Gene

Domains & Families for FAT1 Gene

Gene Families for FAT1 Gene

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).
  • Contains 33 cadherin domains.
  • Contains 5 EGF-like domains.
  • Contains 1 laminin G-like domain.
genes like me logo Genes that share domains with FAT1: view

Function for FAT1 Gene

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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for FAT1 Gene COMPARTMENTS Subcellular localization image for FAT1 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 5
peroxisome 2
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030027 lamellipodium IEA --
GO:0030054 cell junction IEA --
GO:0048471 perinuclear region of cytoplasm IDA 15922730
genes like me logo Genes that share ontologies with FAT1: view

Pathways & Interactions for FAT1 Gene

SuperPathways for FAT1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA,TAS 8586420
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0016477 cell migration ISS --
genes like me logo Genes that share ontologies with FAT1: view

No data available for Pathways by source and SIGNOR curated interactions for FAT1 Gene

Drugs & Compounds for FAT1 Gene

No Compound Related Data Available

Transcripts for FAT1 Gene

Unigene Clusters for FAT1 Gene

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

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

mRNA expression in normal human tissues 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, MOPED, and MaxQB for FAT1 Gene



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.
genes like me logo Genes that share expression patterns with FAT1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia FAT1 35
  • 84.18 (n)
  • 89.93 (a)
FAT1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAT1 35
  • 86.94 (n)
  • 91.17 (a)
FAT1 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fat1 35
  • 82.53 (n)
  • 88.19 (a)
Fat1 16
Fat1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAT1 35
  • 99 (n)
  • 98.71 (a)
FAT1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fat1 35
  • 82.93 (n)
  • 88.16 (a)
oppossum
(Monodelphis domestica)
Mammalia FAT1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves FAT1 35
  • 76.35 (n)
  • 81.43 (a)
FAT1 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAT1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fat1 35
  • 70.31 (n)
  • 72.65 (a)
Str.11926 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.9028 35
zebrafish
(Danio rerio)
Actinopterygii fat1 35
  • 60.39 (n)
  • 55.73 (a)
FAT1 (2 of 2) 36
  • 55 (a)
OneToMany
fat1a 36
  • 65 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011526 35
  • 48.58 (n)
  • 41.07 (a)
fruit fly
(Drosophila melanogaster)
Insecta kug 35
  • 48.01 (n)
  • 38.99 (a)
kug 36
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cdh-4 35
  • 44.39 (n)
  • 31.06 (a)
Species with no ortholog for FAT1:
  • 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

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
rs3733415 - 186,709,436(+) TTCGC(A/G)CCTCC reference, missense
rs874111 - 186,636,219(-) TGACA(A/G)TGGTC reference, missense
rs2304867 - 186,628,274(-) TCACC(A/G)CTTCC reference, missense
rs6836935 - 186,621,773(+) AATAT(C/T)TCCTG reference, missense
rs11731738 - 186,602,986(+) CCTCA(G/T)GGCAC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv525719 CNV Gain 19592680
nsv290499 CNV Loss 16902084
nsv291790 CNV Loss 16902084
esv2728950 CNV Deletion 23290073
esv2728952 CNV Deletion 23290073
esv2728953 CNV Deletion 23290073
esv2728954 CNV Deletion 23290073
esv2659002 CNV Deletion 23128226
esv2728955 CNV Deletion 23290073
esv2728956 CNV Deletion 23290073
dgv910e201 CNV Deletion 23290073
esv2664653 CNV Deletion 23128226
esv2664697 CNV Deletion 23128226
nsv881509 CNV Gain 21882294
dgv5855n71 CNV Gain 21882294
esv2728957 CNV Deletion 23290073
esv2670303 CNV Deletion 23128226
esv2728958 CNV Deletion 23290073
esv2728959 CNV Deletion 23290073
esv2728960 CNV Deletion 23290073
dgv917n67 CNV Gain 20364138
nsv822894 CNV Gain 20364138

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

HapMap Linkage Disequilibrium report
FAT1
Human Gene Mutation Database (HGMD)
FAT1

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

Disorders for FAT1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
dentin caries
  • compound dental caries
precursor b-cell acute lymphoblastic leukemia
  • b-all
facioscapulohumeral muscular dystrophy 1
  • facioscapulohumeral muscular dystrophy
- 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 23 67
  2. Differentially spliced isoforms of FAT1 are asymmetrically distributed within migrating cells. (PMID: 17500054) Braun G.S. … Moeller M.J. (J. Biol. Chem. 2007) 3 23
  3. The intracellular domain of the human protocadherin hFat1 interacts with Homer signalling scaffolding proteins. (PMID: 16979624) Schreiner D. … Hofer H.W. (FEBS Lett. 2006) 3 23
  4. 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 23
  5. Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype. (PMID: 25615407) Puppo F. … LAcvy N. (Hum. Mutat. 2015) 3

Products for FAT1 Gene

Sources for FAT1 Gene

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