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Aliases for FAT1 Gene

Aliases for FAT1 Gene

  • FAT Atypical Cadherin 1 2 3
  • FAT 3 4 6
  • 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 Tumor Suppressor Homolog 1 (Drosophila) 2
  • FAT Tumor Suppressor (Drosophila) Homolog 2
  • FAT Tumor Suppressor Homolog 1 3
  • 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 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

Genomic Location for FAT1 Gene

Start:
186,587,783 bp from pter
End:
186,726,722 bp from pter
Size:
138,940 bases
Orientation:
Minus strand

Genomic View for FAT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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
    Secondary Accessions:

    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 Lys637, Lys686, Lys1568, Lys2600, Lys3736, Lys3841, Lys3992, and Lys4219
  • Glycosylation at Asn40, Asn333, Asn660, Asn740, Asn791, Asn998, Ser1188, Asn1426, Asn1551, Asn1748, Asn1864, Asn1902, Asn1940, Asn1991, Asn2325, Asn2464, Asn3324, Asn3422, Asn3444, Asn3613, Asn3640, Asn3716, and Asn4152
  • Modification sites at PhosphoSitePlus

Other Protein References for FAT1 Gene

No data available for DME Specific Peptides for FAT1 Gene

Domains for FAT1 Gene

Gene Families for FAT1 Gene

HGNC:
  • CDHR :Cadherins / Cadherin-related

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 :
  • Q14517
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.

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

miRNA for FAT1 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
nucleus 5
plasma membrane 5
extracellular 2
cytosol 1
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15922730
GO:0005886 plasma membrane IDA 15922730
GO:0005887 integral component of plasma membrane TAS 8586420
GO:0005911 cell-cell junction IDA 15148305
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with FAT1: view

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

No data available for Pathways by source for FAT1 Gene

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

Integrated Proteomics: protein expression 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 expressions with FAT1: view

No data available for mRNA differential expression in normal tissues 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 35
  • 99 (n)
  • 98.71 (a)
FAT1 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia FAT1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 64 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fat1 35
  • 82.93 (n)
  • 88.16 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.9028 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fat1 35
  • 70.31 (n)
  • 72.65 (a)
Str.11926 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

Selected 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 MAF
rs162062 -- 186,661,052(-) TTGAT(G/T)AATTA intron-variant
rs162063 -- 186,672,412(+) ATGTA(C/T)AATTT intron-variant
rs162180 -- 186,656,230(-) cacca(C/T)ctgtg intron-variant
rs162181 -- 186,683,275(+) TTTCT(C/T)CTCAT intron-variant
rs162182 -- 186,668,449(-) TTAAG(A/G)ACAAG intron-variant

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

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

MalaCards: The human disease database. (2) Diseases for FAT1 Gene including...

Search for FAT1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for FAT1 Gene

(2) Novoseek inferred disease relationships for FAT1 Gene

Disease -log(P) Hits PubMed IDs
breast cancer 3.12 3
tumors 0 1

Relevant External Links for FAT1

Genetic Association Database (GAD)
FAT1
Human Genome Epidemiology (HuGE) Navigator
FAT1
genes like me logo Genes that share disorders with FAT1: view

No data available for UniProtKB/Swiss-Prot 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
  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 23
  3. Atrophin proteins interact with the Fat1 cadherin and regulate migration and orientation in vascular smooth muscle cells. (PMID: 19131340) Hou R. … Sibinga N.E. (J. Biol. Chem. 2009) 3 4
  4. 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 48
  5. No influence of FAT polymorphisms in response to aripiprazole. (PMID: 19893579) Pae C.U. … Serretti A. (J. Hum. Genet. 2010) 3 48

Products for FAT1 Gene

Sources for FAT1 Gene

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